#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	957838	957838	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:957838G>A	ENST00000379370.2	+	2	509	c.459G>A	c.(457-459)gtG>gtA	p.V153V		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	153	NtA. {ECO:0000255|PROSITE- ProRule:PRU00443}.				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)	p.V153V(1)		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)		AGTTCTGTGTGGAAGGTGCGT	0.657																																						uc001ack.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(2)|breast(1)	3						c.(457-459)GTG>GTA		agrin precursor							54.0	57.0	56.0					1																	957838		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.chr1:957838G>A	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.459G>A	1.37:g.957838G>A							p.V153V	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)	2	509	+	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)	153			NtA.		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Silent	SNP	ENST00000379370.2	37	c.459G>A	CCDS30551.1																																																																																				0.657	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2		NM_198576		23	30	0	0	0	0.014323	0	23	30		
DFFB	1677	broad.mit.edu	37	1	3800260	3800260	+	Silent	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:3800260C>T	ENST00000378209.3	+	7	1295	c.972C>T	c.(970-972)ccC>ccT	p.P324P	AL691523.1_ENST00000579705.1_RNA	NM_004402.2	NP_004393.1	O76075	DFFB_HUMAN	DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)	324					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.P324P(1)		endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		TCTACAAACCCCAGACAAGGT	0.498																																						uc001alc.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(970-972)CCC>CCT		DNA fragmentation factor, 40 kD, beta							120.0	114.0	116.0					1																	3800260		2203	4300	6503	SO:0001819	synonymous_variant	1677				apoptotic chromosome condensation|DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction	cytosol|nucleoplasm	deoxyribonuclease activity|enzyme binding	g.chr1:3800260C>T		CCDS52.1, CCDS72693.1	1p36.3	2014-03-06	2002-08-29		ENSG00000169598	ENSG00000169598			2773	protein-coding gene	gene with protein product		601883				9108473, 9560346	Standard	NM_004402		Approved	CAD, CPAN, DFF-40, DFF40	uc001alc.3	O76075	OTTHUMG00000003525	ENST00000378209.3:c.972C>T	1.37:g.3800260C>T						DFFB_uc001ale.2_RNA|DFFB_uc009vlp.2_RNA|DFFB_uc001alb.2_RNA|DFFB_uc010nzn.1_Silent_p.P348P|DFFB_uc009vlq.2_RNA|DFFB_uc009vlr.2_Silent_p.P275P|DFFB_uc001ald.2_Silent_p.P260P	p.P324P	NM_004402	NP_004393	O76075	DFFB_HUMAN		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)	7	1295	+	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)	324					O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Silent	SNP	ENST00000378209.3	37	c.972C>T	CCDS52.1																																																																																				0.498	DFFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009821.2		NM_001282669		28	65	0	0	0	0.027356	0	28	65		
Unknown	0	broad.mit.edu	37	1	13183388	13183388	+	IGR	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:13183388G>C								RP13-221M14.3 (18920 upstream) : PRAMEF26 (32967 downstream)																							TCCACTCTTAGAATTGAAGCC	0.502																																						uc010obg.1		NaN																	0					0						c.(484-486)TCT>TGT		heterogeneous nuclear ribonucleoprotein C-like							47.0	38.0	41.0					1																	13183388		692	1591	2283	SO:0001628	intergenic_variant	440563					ribonucleoprotein complex	nucleic acid binding|nucleotide binding	g.chr1:13183388G>C																													1.37:g.13183388G>C							p.S162C	NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN			1	580	-			162						Missense_Mutation	SNP		37	c.485C>G																																																																																				0	0.502										79	496	0	0	0	0.01441	0	79	496		
EIF4G3	8672	broad.mit.edu	37	1	21226289	21226289	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:21226289G>A	ENST00000264211.8	-	10	1926	c.1732C>T	c.(1732-1734)Cgt>Tgt	p.R578C	EIF4G3_ENST00000602326.1_Missense_Mutation_p.R584C|EIF4G3_ENST00000536266.1_Missense_Mutation_p.R182C|EIF4G3_ENST00000374937.3_Missense_Mutation_p.R584C|EIF4G3_ENST00000544689.1_Missense_Mutation_p.R121C|EIF4G3_ENST00000537738.1_Missense_Mutation_p.R31C|EIF4G3_ENST00000374933.3_5'UTR|EIF4G3_ENST00000400422.1_Missense_Mutation_p.R578C|EIF4G3_ENST00000374935.3_Missense_Mutation_p.R298C	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	578					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.R578C(1)|p.R584C(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GCACCATTACGTACTGGCTCA	0.438																																						uc001bec.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	skin(1)	1						c.(1732-1734)CGT>TGT		eukaryotic translation initiation factor 4							310.0	311.0	311.0					1																	21226289		2203	4300	6503	SO:0001583	missense	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21226289G>A	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.1732C>T	1.37:g.21226289G>A	ENSP00000264211:p.Arg578Cys					EIF4G3_uc010odi.1_Missense_Mutation_p.R182C|EIF4G3_uc010odj.1_Missense_Mutation_p.R577C|EIF4G3_uc009vpz.2_Missense_Mutation_p.R298C|EIF4G3_uc001bed.2_Missense_Mutation_p.R578C|EIF4G3_uc001bef.2_Missense_Mutation_p.R577C|EIF4G3_uc001bee.2_Missense_Mutation_p.R584C	p.R578C	NM_003760	NP_003751	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	11	1988	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	578					B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	c.1732C>T	CCDS214.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.988713	0.74589	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266;ENST00000374933;ENST00000544689	T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94;0.94	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.44767	0.1309	N	0.08118	0	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.99;0.999	D;P;D;P;P	0.63192	0.912;0.732;0.911;0.53;0.863	T	0.54214	-0.8327	10	0.49607	T	0.09	-4.552	19.34	0.94337	0.0:0.0:1.0:0.0	.	773;298;182;584;578	Q59GJ0;Q504Z1;F5H564;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	C	578;774;578;298;31;584;182;121;121	ENSP00000264211:R578C;ENSP00000383274:R578C;ENSP00000364071:R298C;ENSP00000442010:R31C;ENSP00000364073:R584C;ENSP00000444693:R182C;ENSP00000444401:R121C	ENSP00000264211:R578C	R	-	1	0	EIF4G3	21098876	0.960000	0.32886	0.996000	0.52242	0.980000	0.70556	4.165000	0.58196	2.562000	0.86427	0.644000	0.83932	CGT		0.438	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3		NM_003760		15	271	0	0	0	0.020292	0	15	271		
PUM1	9698	broad.mit.edu	37	1	31478834	31478834	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:31478834G>C	ENST00000257075.5	-	5	679	c.586C>G	c.(586-588)Cag>Gag	p.Q196E	PUM1_ENST00000373747.3_Missense_Mutation_p.Q196E|PUM1_ENST00000373741.4_Missense_Mutation_p.Q232E|PUM1_ENST00000423018.2_Intron|PUM1_ENST00000424085.2_Intron|PUM1_ENST00000373742.2_Intron|PUM1_ENST00000426105.2_Missense_Mutation_p.Q196E|PUM1_ENST00000440538.2_Missense_Mutation_p.Q196E	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	196					membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)	p.Q196E(1)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TGGAAACTCTGACCAGGTCTT	0.468																																						uc001bsi.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(586-588)CAG>GAG		pumilio 1 isoform 2							122.0	116.0	118.0					1																	31478834		2203	4300	6503	SO:0001583	missense	9698				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding	g.chr1:31478834G>C	AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"""pumilio (Drosophila) homolog 1"", ""pumilio homolog 1 (Drosophila)"""				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.586C>G	1.37:g.31478834G>C	ENSP00000257075:p.Gln196Glu					PUM1_uc001bsg.1_Missense_Mutation_p.Q8E|PUM1_uc001bsh.1_Missense_Mutation_p.Q196E|PUM1_uc001bsj.1_Missense_Mutation_p.Q196E|PUM1_uc010oga.1_Intron|PUM1_uc001bsk.1_Missense_Mutation_p.Q232E|PUM1_uc010ogb.1_Intron	p.Q196E	NM_014676	NP_055491	Q14671	PUM1_HUMAN		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)	5	699	-		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	196					A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	ENST00000257075.5	37	c.586C>G	CCDS338.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.9|20.9	4.069607|4.069607	0.76301|0.76301	.|.	.|.	ENSG00000134644|ENSG00000134644	ENST00000257075;ENST00000373747;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000543952|ENST00000525843	T;T;T;T;T|.	0.17854|.	2.25;2.51;2.51;2.47;2.5|.	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.74642|.	0.3743|.	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	D;P;D;D;D|.	0.61080|.	0.98;0.726;0.989;0.98;0.989|.	D;B;D;D;D|.	0.69824|.	0.966;0.332;0.966;0.966;0.966|.	T|.	0.70956|.	-0.4731|.	10|.	0.72032|.	D|.	0.01|.	-4.5333|-4.5333	20.0637|20.0637	0.97700|0.97700	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	232;196;196;196;196|.	Q5T1Z8;Q14671-2;Q14671;E9PCJ0;Q5T1Z4|.	.;.;PUM1_HUMAN;.;.|.	E|X	196;196;196;196;232;196|212	ENSP00000257075:Q196E;ENSP00000362852:Q196E;ENSP00000391723:Q196E;ENSP00000401777:Q196E;ENSP00000362846:Q232E|.	ENSP00000257075:Q196E|.	Q|S	-|-	1|2	0|0	PUM1|PUM1	31251421|31251421	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.813000|9.813000	0.99286|0.99286	2.751000|2.751000	0.94390|0.94390	0.650000|0.650000	0.86243|0.86243	CAG|TCA		0.468	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1				10	36	0	0	0	0.006214	0	10	36		
GJA9	81025	broad.mit.edu	37	1	39341511	39341511	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:39341511G>A	ENST00000360786.3	-	1	512	c.260C>T	c.(259-261)tCa>tTa	p.S87L	MYCBP_ENST00000489803.1_5'UTR|GJA9_ENST00000454994.2_Missense_Mutation_p.S87L|RP5-864K19.4_ENST00000443161.1_RNA|RP5-864K19.4_ENST00000433671.2_RNA|MYCBP_ENST00000397572.2_5'Flank|GJA9_ENST00000357771.3_Missense_Mutation_p.S87L|RP5-864K19.4_ENST00000456813.1_RNA			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	87					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)		p.S87L(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			CAGGGATGGTGAAGACACAAA	0.473																																						uc001cct.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(259-261)TCA>TTA		gap junction protein, alpha 9, 59kDa							172.0	170.0	171.0					1																	39341511		2203	4300	6503	SO:0001583	missense	81025				cell communication	connexon complex|integral to membrane		g.chr1:39341511G>A	AF179597	CCDS432.1	1p34	2008-02-05	2007-11-06	2007-11-06	ENSG00000131233	ENSG00000131233		"""Ion channels / Gap junction proteins (connexins)"""	19155	protein-coding gene	gene with protein product	"""connexin 59"""	611923	"""gap junction protein, alpha 10, 59kDa"""	GJA10			Standard	NM_030772		Approved	CX59, CX58	uc021olr.1	P57773	OTTHUMG00000000482	ENST00000360786.3:c.260C>T	1.37:g.39341511G>A	ENSP00000354020:p.Ser87Leu					RRAGC_uc001ccr.2_5'Flank|MYCBP_uc001ccs.2_5'Flank	p.S87L	NM_030772	NP_110399	P57773	CXA9_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)		2	541	-	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	87			Helical; (Potential).		B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	ENST00000360786.3	37	c.260C>T	CCDS432.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.185539	0.78677	.	.	ENSG00000131233	ENST00000454994;ENST00000357771;ENST00000360786	D;D;D	0.99032	-5.35;-5.35;-5.35	4.55	2.65	0.31530	Connexin, N-terminal (1);	0.075929	0.56097	N	0.000039	D	0.97654	0.9231	N	0.11064	0.09	0.46437	D	0.999045	D	0.76494	0.999	D	0.81914	0.995	D	0.96858	0.9630	10	0.87932	D	0	.	9.9215	0.41468	0.1727:0.0:0.8273:0.0	.	87	P57773	CXA9_HUMAN	L	87	ENSP00000406846:S87L;ENSP00000350415:S87L;ENSP00000354020:S87L	ENSP00000350415:S87L	S	-	2	0	GJA9	39114098	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	5.405000	0.66351	0.605000	0.29947	0.650000	0.86243	TCA		0.473	GJA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001205.1		NM_030772		45	114	0	0	0	0.01441	0	45	114		
MAGOH	4116	broad.mit.edu	37	1	53699276	53699276	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:53699276C>T	ENST00000371470.3	-	3	357	c.196G>A	c.(196-198)Gac>Aac	p.D66N	MAGOH_ENST00000462941.1_5'UTR|MAGOH_ENST00000371466.4_Intron	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN	mago-nashi homolog, proliferation-associated (Drosophila)	66					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.D66N(1)		haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						ATTTCACTGTCGTCAATTATT	0.408																																					Colon(150;521 2416 7674 18129)	uc001cvf.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(196-198)GAC>AAC		mago-nashi homolog							274.0	239.0	251.0					1																	53699276		2203	4300	6503	SO:0001583	missense	4116				mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	protein binding|RNA binding	g.chr1:53699276C>T	AF035940	CCDS577.1	1p32.3	2010-04-16	2001-11-28		ENSG00000162385	ENSG00000162385			6815	protein-coding gene	gene with protein product		602603	"""mago-nashi (Drosophila) homolog, proliferation-associated"""			9479507	Standard	NM_002370		Approved	MAGOHA, MAGOH1	uc001cvf.2	P61326	OTTHUMG00000008932	ENST00000371470.3:c.196G>A	1.37:g.53699276C>T	ENSP00000360525:p.Asp66Asn					MAGOH_uc010ont.1_Intron	p.D66N	NM_002370	NP_002361	P61326	MGN_HUMAN			3	284	-			66	DSE->RSR: Slightly reduced nonsense- mediated decay activity.				B1ARP8|B2R5A2|O35169|P50606|Q5SW69	Missense_Mutation	SNP	ENST00000371470.3	37	c.196G>A	CCDS577.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408849	0.83340	.	.	ENSG00000162385	ENST00000371470	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.80849	0.4702	M	0.92691	3.335	0.80722	D	1	B	0.20887	0.049	B	0.28465	0.09	T	0.80582	-0.1318	9	0.59425	D	0.04	-2.8908	19.2175	0.93783	0.0:1.0:0.0:0.0	.	66	P61326	MGN_HUMAN	N	66	.	ENSP00000360525:D66N	D	-	1	0	MAGOH	53471864	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.308000	0.78929	2.556000	0.86216	0.555000	0.69702	GAC		0.408	MAGOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024730.1		NM_002370		47	103	0	0	0	0.01441	0	47	103		
CACHD1	57685	broad.mit.edu	37	1	65145288	65145288	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:65145288G>A	ENST00000371073.2	+	24	3255	c.3255G>A	c.(3253-3255)gtG>gtA	p.V1085V	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Silent_p.V1034V			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1085					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)		p.V1034V(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GTGATGAGGTGATCACATTAA	0.493																																						uc001dbo.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)	2						c.(3100-3102)GTG>GTA		cache domain containing 1							100.0	109.0	106.0					1																	65145288		2203	4300	6503	SO:0001819	synonymous_variant	57685				calcium ion transport	integral to membrane		g.chr1:65145288G>A	AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.3255G>A	1.37:g.65145288G>A						CACHD1_uc001dbp.1_Silent_p.V789V|CACHD1_uc001dbq.1_Silent_p.V789V|CACHD1_uc010opa.1_Silent_p.V278V	p.V1034V	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN			24	3207	+			1085			Extracellular (Potential).		Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Silent	SNP	ENST00000371073.2	37	c.3102G>A																																																																																					0.493	CACHD1-201	KNOWN	basic	protein_coding	protein_coding			NM_020925		31	64	0	0	0	0.009535	0	31	64		
LRRC7	57554	broad.mit.edu	37	1	70488897	70488897	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:70488897G>A	ENST00000035383.5	+	15	1550	c.1520G>A	c.(1519-1521)tGg>tAg	p.W507*	RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000310961.5_Nonsense_Mutation_p.W512*|RP11-181B18.1_ENST00000425754.1_RNA|LRRC7_ENST00000415775.2_Intron	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	507						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.W507*(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TGCACACCATGGGCCAGGTGT	0.587																																						uc001dep.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(1519-1521)TGG>TAG		leucine rich repeat containing 7							79.0	72.0	74.0					1																	70488897		2203	4300	6503	SO:0001587	stop_gained	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70488897G>A		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.1520G>A	1.37:g.70488897G>A	ENSP00000035383:p.Trp507*					LRRC7_uc009wbg.2_Intron	p.W507*	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			15	1550	+			507					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Nonsense_Mutation	SNP	ENST00000035383.5	37	c.1520G>A	CCDS645.1	.	.	.	.	.	.	.	.	.	.	G	37	6.480548	0.97603	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	.	.	.	5.86	5.86	0.93980	.	0.150888	0.46442	D	0.000297	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	15.6849	0.77402	0.0:0.0:1.0:0.0	.	.	.	.	X	512;507;330	.	ENSP00000035383:W507X	W	+	2	0	LRRC7	70261485	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.453000	0.60061	2.775000	0.95449	0.585000	0.79938	TGG		0.587	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1		NM_020794		20	34	0	0	0	0.012319	0	20	34		
ZZZ3	26009	broad.mit.edu	37	1	78045314	78045314	+	Splice_Site	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:78045314C>G	ENST00000370801.3	-	10	2456		c.e10-1		ZZZ3_ENST00000370798.1_Splice_Site|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3						chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.?(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						CCAGCTTTTTCTAAGCCATAC	0.333																																						uc001dhq.2		NaN																	1	Unknown(1)		urinary_tract(1)	ovary(4)|large_intestine(1)	5						c.e10-1		zinc finger, ZZ-type containing 3							139.0	134.0	136.0					1																	78045314		2203	4300	6503	SO:0001630	splice_region_variant	26009				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:78045314C>G	AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"""Zinc fingers, ZZ-type"""	24523	protein-coding gene	gene with protein product	"""ATAC component 1 homolog (Drosophila)"""					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.1981-1G>C	1.37:g.78045314C>G						ZZZ3_uc001dhr.2_Splice_Site_p.K167_splice|ZZZ3_uc001dhp.2_Splice_Site_p.K660_splice	p.K661_splice	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN			10	2457	-								B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Splice_Site	SNP	ENST00000370801.3	37	c.1981_splice	CCDS677.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.897109	0.52121	.	.	ENSG00000036549	ENST00000370801;ENST00000370798	.	.	.	5.43	4.53	0.55603	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8093	0.69982	0.0:0.9307:0.0:0.0693	.	.	.	.	.	-1	.	.	.	-	.	.	ZZZ3	77817902	1.000000	0.71417	1.000000	0.80357	0.562000	0.35680	7.337000	0.79256	1.452000	0.47756	-0.127000	0.14921	.		0.333	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1		NM_015534	Intron	37	70	0	0	0	0.025465	0	37	70		
PRMT6	55170	broad.mit.edu	37	1	107599800	107599800	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:107599800G>C	ENST00000370078.1	+	1	500	c.463G>C	c.(463-465)Gag>Cag	p.E155Q	PRMT6_ENST00000361318.5_Missense_Mutation_p.E96Q			Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	155	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				base-excision repair (GO:0006284)|histone H3-R2 methylation (GO:0034970)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	histone binding (GO:0042393)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H2A-R3 specific) (GO:0070612)|histone methyltransferase activity (H3-R2 specific) (GO:0070611)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)	p.E96Q(1)		biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		CATCGTGAGCGAGTGGATGGG	0.652																																						uc010ous.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(463-465)GAG>CAG		protein arginine methyltransferase 6							78.0	89.0	85.0					1																	107599800		2193	4293	6486	SO:0001583	missense	55170				base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr1:107599800G>C	AK001421	CCDS41360.1, CCDS41360.2	1p13.2	2008-02-05	2006-02-16	2006-02-16	ENSG00000198890	ENSG00000198890		"""Protein arginine methyltransferases"""	18241	protein-coding gene	gene with protein product		608274	"""HMT1 hnRNP methyltransferase-like 6 (S. cerevisiae)"""	HRMT1L6		11724789	Standard	NM_018137		Approved	FLJ10559	uc010ous.2	Q96LA8	OTTHUMG00000010964	ENST00000370078.1:c.463G>C	1.37:g.107599800G>C	ENSP00000359095:p.Glu155Gln						p.E155Q	NM_018137	NP_060607	Q96LA8	ANM6_HUMAN		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)	1	534	+		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)	155					A3KME1|B4DID8|Q5T5Y5|Q6DKI4|Q9NVR8	Missense_Mutation	SNP	ENST00000370078.1	37	c.463G>C	CCDS41360.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.93|15.93	2.979351|2.979351	0.53827|0.53827	.|.	.|.	ENSG00000198890|ENSG00000198890	ENST00000361318;ENST00000370078|ENST00000540389	T;T|.	0.24538|.	1.85;1.85|.	5.75|5.75	4.83|4.83	0.62350|0.62350	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.66665|0.66665	0.2812|0.2812	M|M	0.73217|0.73217	2.22|2.22	0.50039|0.50039	D|D	0.999842|0.999842	P|.	0.46064|.	0.872|.	D|.	0.67900|.	0.954|.	T|T	0.70550|0.70550	-0.4841|-0.4841	10|6	0.87932|0.87932	D|D	0|0	-4.1769|-4.1769	11.8005|11.8005	0.52124|0.52124	0.0837:0.0:0.9163:0.0|0.0837:0.0:0.9163:0.0	.|.	155|.	Q96LA8|.	ANM6_HUMAN|.	Q|P	96;155|48	ENSP00000355145:E96Q;ENSP00000359095:E155Q|.	ENSP00000355145:E96Q|ENSP00000440829:R48P	E|R	+|+	1|2	0|0	PRMT6|PRMT6	107401323|107401323	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.021000|0.021000	0.10359|0.10359	6.850000|6.850000	0.75420|0.75420	2.711000|2.711000	0.92665|0.92665	0.544000|0.544000	0.68410|0.68410	GAG|CGA		0.652	PRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030185.1		NM_018137		23	49	0	0	0	0.024334	0	23	49		
KCNA10	3744	broad.mit.edu	37	1	111060995	111060995	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:111060995C>G	ENST00000369771.2	-	1	802	c.415G>C	c.(415-417)Gat>Cat	p.D139H		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	139					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)	p.D139H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	AGGATTCCATCAAAACTGGGC	0.453																																						uc001dzt.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|large_intestine(1)	4						c.(415-417)GAT>CAT		potassium voltage-gated channel, shaker-related							55.0	61.0	59.0					1																	111060995		2203	4300	6503	SO:0001583	missense	3744					voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	g.chr1:111060995C>G	U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.415G>C	1.37:g.111060995C>G	ENSP00000358786:p.Asp139His						p.D139H	NM_005549	NP_005540	Q16322	KCA10_HUMAN		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	1	803	-		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	139						Missense_Mutation	SNP	ENST00000369771.2	37	c.415G>C	CCDS826.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889389	0.72524	.	.	ENSG00000143105	ENST00000369771	T	0.77877	-1.13	5.93	5.93	0.95920	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.88651	0.6494	M	0.85710	2.77	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89325	0.3643	10	0.87932	D	0	.	18.895	0.92420	0.0:1.0:0.0:0.0	.	139	Q16322	KCA10_HUMAN	H	139	ENSP00000358786:D139H	ENSP00000358786:D139H	D	-	1	0	KCNA10	110862518	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.818000	0.86416	2.797000	0.96272	0.655000	0.94253	GAT		0.453	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1		NM_005549		31	64	0	0	0	0.008361	0	31	64		
RSBN1	54665	broad.mit.edu	37	1	114310974	114310974	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:114310974G>C	ENST00000261441.5	-	5	1759	c.1696C>G	c.(1696-1698)Cgg>Ggg	p.R566G	RSBN1_ENST00000369581.2_5'Flank	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	566						nucleus (GO:0005634)		p.R566G(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCACTGGTCCGAGGTAGGTAC	0.428																																						uc001edq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1696-1698)CGG>GGG		round spermatid basic protein 1							128.0	125.0	126.0					1																	114310974		2203	4300	6503	SO:0001583	missense	54665					nucleus		g.chr1:114310974G>C	AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.1696C>G	1.37:g.114310974G>C	ENSP00000261441:p.Arg566Gly					RSBN1_uc001edr.2_RNA	p.R566G	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	1732	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	566					A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Missense_Mutation	SNP	ENST00000261441.5	37	c.1696C>G	CCDS862.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.155558	0.78114	.	.	ENSG00000081019	ENST00000261441	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.82001	0.4942	M	0.83603	2.65	0.80722	D	1	D	0.67145	0.996	D	0.79108	0.992	D	0.83775	0.0222	9	0.87932	D	0	-9.5539	19.8336	0.96646	0.0:0.0:1.0:0.0	.	566	Q5VWQ0	RSBN1_HUMAN	G	566	.	ENSP00000261441:R566G	R	-	1	2	RSBN1	114112497	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.199000	0.65152	2.692000	0.91855	0.655000	0.94253	CGG		0.428	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2		NM_018364		12	63	0	0	0	0.020292	0	12	63		
TTF2	8458	broad.mit.edu	37	1	117633211	117633211	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:117633211G>T	ENST00000369466.4	+	15	2598	c.2554G>T	c.(2554-2556)Gag>Tag	p.E852*		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	852					ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)	p.E852*(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TGAAGATGAAGAGACTGTTTA	0.368																																						uc001egy.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(1)	1						c.(2554-2556)GAG>TAG		transcription termination factor, RNA polymerase							124.0	119.0	120.0					1																	117633211		2203	4300	6503	SO:0001587	stop_gained	8458				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding	g.chr1:117633211G>T	AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 6"""	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.2554G>T	1.37:g.117633211G>T	ENSP00000358478:p.Glu852*						p.E852*	NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)	15	2574	+	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)	852					A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Nonsense_Mutation	SNP	ENST00000369466.4	37	c.2554G>T	CCDS892.1	.	.	.	.	.	.	.	.	.	.	G	38	7.116096	0.98074	.	.	ENSG00000116830	ENST00000369466	.	.	.	5.34	0.793	0.18632	.	0.431628	0.17194	N	0.183390	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-9.0691	5.49	0.16771	0.1967:0.4269:0.3764:0.0	.	.	.	.	X	852	.	ENSP00000358478:E852X	E	+	1	0	TTF2	117434734	0.996000	0.38824	0.423000	0.26634	0.997000	0.91878	1.022000	0.30052	0.296000	0.22592	0.655000	0.94253	GAG		0.368	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033277.3				17	51	1	0	4.35082e-09	0.010504	4.66417e-09	17	51		
RPRD2	23248	broad.mit.edu	37	1	150443792	150443792	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:150443792C>T	ENST00000369068.4	+	11	2372	c.2368C>T	c.(2368-2370)Cga>Tga	p.R790*	RPRD2_ENST00000401000.4_Nonsense_Mutation_p.R764*|RPRD2_ENST00000539519.1_Nonsense_Mutation_p.R764*|RPRD2_ENST00000492220.1_3'UTR	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	790	Ser-rich.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)		p.R790*(2)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						ATCTACATATCGACCCTTTGG	0.507																																						uc009wlr.2		NaN																	2	Substitution - Nonsense(2)		urinary_tract(2)	ovary(1)	1						c.(2368-2370)CGA>TGA		Regulation of nuclear pre-mRNA domain containing							84.0	76.0	79.0					1																	150443792		1878	4110	5988	SO:0001587	stop_gained	23248						protein binding	g.chr1:150443792C>T	BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.2368C>T	1.37:g.150443792C>T	ENSP00000358064:p.Arg790*					RPRD2_uc010pcc.1_Nonsense_Mutation_p.R764*|RPRD2_uc001eup.3_Nonsense_Mutation_p.R764*	p.R790*	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN			11	2569	+			790			Ser-rich.		A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Nonsense_Mutation	SNP	ENST00000369068.4	37	c.2368C>T	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.981654	0.93044	.	.	ENSG00000163125	ENST00000401000;ENST00000539519;ENST00000369068	.	.	.	5.0	5.0	0.66597	.	0.184499	0.36628	N	0.002490	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.988	18.5409	0.91027	0.0:1.0:0.0:0.0	.	.	.	.	X	764;764;790	.	ENSP00000358064:R790X	R	+	1	2	RPRD2	148710416	1.000000	0.71417	0.945000	0.38365	0.931000	0.56810	1.752000	0.38349	2.608000	0.88229	0.650000	0.86243	CGA		0.507	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1		NM_015203		17	40	0	0	0	0.028581	0	17	40		
ASH1L	55870	broad.mit.edu	37	1	155491121	155491121	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:155491121C>T	ENST00000368346.3	-	2	829	c.190G>A	c.(190-192)Gat>Aat	p.D64N	ASH1L_ENST00000392403.3_Missense_Mutation_p.D64N|ASH1L_ENST00000548830.1_Missense_Mutation_p.D64N			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	64					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.D64N(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GTCAAACCATCATCTTTCCCA	0.393																																						uc009wqq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11						c.(190-192)GAT>AAT		absent, small, or homeotic 1-like							285.0	287.0	286.0					1																	155491121		2203	4300	6503	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155491121C>T	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.190G>A	1.37:g.155491121C>T	ENSP00000357330:p.Asp64Asn					ASH1L_uc001fkt.2_Missense_Mutation_p.D64N|ASH1L_uc009wqr.1_Missense_Mutation_p.D64N	p.D64N	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		2	670	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		64					Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.190G>A		.	.	.	.	.	.	.	.	.	.	C	17.45	3.392956	0.62066	.	.	ENSG00000116539	ENST00000368346;ENST00000392403;ENST00000548830	D;D	0.90955	-2.76;-2.76	5.25	4.34	0.51931	.	0.292555	0.32918	N	0.005487	T	0.72534	0.3472	N	0.08118	0	0.38970	D	0.958722	B;B	0.33238	0.281;0.403	B;B	0.33890	0.083;0.172	T	0.76214	-0.3041	10	0.46703	T	0.11	.	13.6503	0.62308	0.0:0.925:0.0:0.075	.	64;64	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	N	64	ENSP00000357330:D64N;ENSP00000376204:D64N	ENSP00000357330:D64N	D	-	1	0	ASH1L	153757745	0.997000	0.39634	0.921000	0.36526	0.813000	0.45954	1.629000	0.37071	1.452000	0.47756	0.557000	0.71058	GAT		0.393	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1		NM_018489		188	399	0	0	0	0.01441	0	188	399		
NES	10763	broad.mit.edu	37	1	156641159	156641159	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:156641159C>T	ENST00000368223.3	-	4	2953	c.2821G>A	c.(2821-2823)Gag>Aag	p.E941K		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	941	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)	p.E941K(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGCGGCAGCTCCTGTCCCTCC	0.547																																						uc001fpq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(6)	6						c.(2821-2823)GAG>AAG		nestin							150.0	164.0	159.0					1																	156641159		2203	4300	6503	SO:0001583	missense	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156641159C>T	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.2821G>A	1.37:g.156641159C>T	ENSP00000357206:p.Glu941Lys						p.E941K	NM_006617	NP_006608	P48681	NEST_HUMAN			4	2954	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		941			Tail.		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	c.2821G>A	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.424537	0.62733	.	.	ENSG00000132688	ENST00000368223	D	0.87103	-2.21	4.5	2.6	0.31112	.	0.254375	0.20831	N	0.084883	T	0.77191	0.4094	M	0.61703	1.905	0.09310	N	1	P	0.51057	0.941	B	0.43658	0.426	T	0.70238	-0.4927	10	0.87932	D	0	.	8.2067	0.31458	0.0:0.7986:0.0:0.2014	.	941	P48681	NEST_HUMAN	K	941	ENSP00000357206:E941K	ENSP00000357206:E941K	E	-	1	0	NES	154907783	0.000000	0.05858	0.041000	0.18516	0.032000	0.12392	0.212000	0.17497	1.206000	0.43276	0.563000	0.77884	GAG		0.547	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2		NM_006617		105	185	0	0	0	0.01441	0	105	185		
CD1D	912	broad.mit.edu	37	1	158151886	158151886	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:158151886C>G	ENST00000368171.3	+	4	892	c.393C>G	c.(391-393)ttC>ttG	p.F131L		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	131					antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)	p.F131L(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CAAATAACTTCTTCCATGTAG	0.498																																						uc001frr.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(391-393)TTC>TTG		CD1D antigen precursor							127.0	140.0	135.0					1																	158151886		2203	4300	6503	SO:0001583	missense	912				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	g.chr1:158151886C>G	BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1637	protein-coding gene	gene with protein product		188410	"""CD1D antigen, d polypeptide"", ""CD1d antigen"""			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.393C>G	1.37:g.158151886C>G	ENSP00000357153:p.Phe131Leu					CD1D_uc009wsr.1_Missense_Mutation_p.F131L|CD1D_uc009wss.2_Missense_Mutation_p.F131L|CD1D_uc009wst.1_Missense_Mutation_p.F27L	p.F131L	NM_001766	NP_001757	P15813	CD1D_HUMAN			4	892	+	all_hematologic(112;0.0378)		131			Extracellular (Potential).		D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Missense_Mutation	SNP	ENST00000368171.3	37	c.393C>G	CCDS1173.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.096527	0.56075	.	.	ENSG00000158473	ENST00000368171	T	0.09630	2.96	4.74	1.23	0.21249	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.271806	0.26836	N	0.022257	T	0.20292	0.0488	M	0.89601	3.045	0.22562	N	0.998983	D	0.89917	1.0	D	0.80764	0.994	T	0.03394	-1.1041	10	0.87932	D	0	-13.4001	7.4824	0.27413	0.0:0.7401:0.0:0.2599	.	131	P15813	CD1D_HUMAN	L	131	ENSP00000357153:F131L	ENSP00000357153:F131L	F	+	3	2	CD1D	156418510	0.280000	0.24249	0.062000	0.19696	0.023000	0.10783	0.307000	0.19296	0.126000	0.18424	0.650000	0.86243	TTC		0.498	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1		NM_001766		104	223	0	0	0	0.01441	0	104	223		
POU2F1	5451	broad.mit.edu	37	1	167381395	167381395	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:167381395G>A	ENST00000541643.3	+	15	1848	c.1686G>A	c.(1684-1686)gtG>gtA	p.V562V	POU2F1_ENST00000367862.5_Silent_p.V574V|POU2F1_ENST00000420254.3_Silent_p.V562V|POU2F1_ENST00000367866.2_Silent_p.V585V|POU2F1_ENST00000429375.2_Silent_p.V522V|POU2F1_ENST00000367865.1_3'UTR			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	562					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V585V(1)|p.V562V(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						CCAGCCAGGTGATGGTGACAG	0.592																																						uc001gec.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	central_nervous_system(2)|skin(2)|breast(1)	5						c.(1684-1686)GTG>GTA		POU class 2 homeobox 1							95.0	63.0	74.0					1																	167381395		2203	4300	6503	SO:0001819	synonymous_variant	5451				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:167381395G>A	BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"""Homeoboxes / POU class"""	9212	protein-coding gene	gene with protein product		164175	"""POU domain class 2, transcription factor 1"""	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.1686G>A	1.37:g.167381395G>A						POU2F1_uc001ged.2_Silent_p.V560V|POU2F1_uc001gee.2_Silent_p.V562V|POU2F1_uc010plh.1_Silent_p.V499V|POU2F1_uc001gef.2_Silent_p.V574V|POU2F1_uc001geg.2_Silent_p.V460V|POU2F1_uc009wvg.1_RNA	p.V562V	NM_002697	NP_002688	P14859	PO2F1_HUMAN			15	1848	+			562					B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	Silent	SNP	ENST00000541643.3	37	c.1686G>A																																																																																					0.592	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_002697		11	32	0	0	0	0.013537	0	11	32		
ASTN1	460	broad.mit.edu	37	1	176903363	176903364	+	Missense_Mutation	DNP	CC	CC	TT	rs550682065		TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:176903363_176903364CC>TT	ENST00000367654.3	-	16	2830_2831	c.2619_2620GG>AA	c.(2617-2622)gaGGag>gaAAag	p.E874K	ASTN1_ENST00000281881.3_5'Flank|ASTN1_ENST00000424564.2_Missense_Mutation_p.E866K|ASTN1_ENST00000367657.3_Missense_Mutation_p.E866K|ASTN1_ENST00000361833.2_Missense_Mutation_p.E866K	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	874					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.E865E(1)|p.E866K(1)|p.E865>?(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GAACAGGACTCCTCAAAGCCGT	0.52																																						uc001glc.2		NaN																	3	Substitution - Missense(1)|Complex(1)|Substitution - coding silent(1)		urinary_tract(3)	ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(2593-2598)GAGGAG>GAAAAG		astrotactin isoform 1																																				SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176903363_176903364CC>TT	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2619_2620delinsTT	1.37:g.176903363_176903364delinsTT	ENSP00000356626:p.Glu874Lys					ASTN1_uc001glb.1_Missense_Mutation_p.E866K|ASTN1_uc001gld.1_Missense_Mutation_p.E866K	p.E866K	NM_004319	NP_004310	O14525	ASTN1_HUMAN			16	2807_2808	-			874					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	DNP	ENST00000367654.3	37	c.2595_2596GG>AA																																																																																					0.520	ASTN1-201	KNOWN	basic	protein_coding	protein_coding			NM_004319		9	61	0	0	0	0.004672	0	9	61		
NCF2	4688	broad.mit.edu	37	1	183542321	183542321	+	Splice_Site	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:183542321G>A	ENST00000367535.3	-	5	859	c.608C>T	c.(607-609)aCg>aTg	p.T203M	NCF2_ENST00000413720.1_Splice_Site_p.T158M|NCF2_ENST00000418089.1_Intron|NCF2_ENST00000367536.1_Splice_Site_p.T203M	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	203					aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)	p.T203M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	CCCACCTACCGTCGCCTTGCC	0.572																																						uc001gqj.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)	3						c.(607-609)ACG>ATG		neutrophil cytosolic factor 2							192.0	178.0	182.0					1																	183542321		2203	4300	6503	SO:0001630	splice_region_variant	4688				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding	g.chr1:183542321G>A	BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"""Tetratricopeptide (TTC) repeat domain containing"""	7661	protein-coding gene	gene with protein product	"""NADPH oxidase activator 2"", ""chronic granulomatous disease, autosomal 2"""	608515	"""neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"""				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.609+1C>T	1.37:g.183542321G>A						NCF2_uc010pod.1_Missense_Mutation_p.T158M|NCF2_uc010poe.1_Intron|NCF2_uc001gqk.3_Missense_Mutation_p.T203M	p.T203M	NM_000433	NP_000424	P19878	NCF2_HUMAN			5	883	-			203					B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Missense_Mutation	SNP	ENST00000367535.3	37	c.608C>T	CCDS1356.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.122334	0.37436	.	.	ENSG00000116701	ENST00000367536;ENST00000392014;ENST00000413720;ENST00000367535	T;T;T	0.66280	-0.2;-0.06;-0.2	5.15	5.15	0.70609	.	0.252582	0.45361	D	0.000364	T	0.42562	0.1208	L	0.29908	0.895	0.80722	D	1	P;B	0.48640	0.913;0.299	B;B	0.33890	0.172;0.018	T	0.46205	-0.9208	10	0.46703	T	0.11	-2.5438	9.1263	0.36816	0.171:0.0:0.829:0.0	.	158;203	E9PHX3;P19878	.;NCF2_HUMAN	M	203;231;158;203	ENSP00000356506:T203M;ENSP00000399294:T158M;ENSP00000356505:T203M	ENSP00000356505:T203M	T	-	2	0	NCF2	181808944	1.000000	0.71417	0.991000	0.47740	0.886000	0.51366	3.519000	0.53458	2.385000	0.81259	0.585000	0.79938	ACG		0.572	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085483.1		NM_000433	Missense_Mutation	90	130	0	0	0	0.01441	0	90	130		
SWT1	54823	broad.mit.edu	37	1	185144079	185144079	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:185144079G>C	ENST00000367500.4	+	5	965	c.800G>C	c.(799-801)aGa>aCa	p.R267T	SWT1_ENST00000367501.3_Missense_Mutation_p.R267T	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	267								p.R267T(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						CAGGAAGAAAGAGAATACCTG	0.368																																						uc001grg.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(799-801)AGA>ACA		hypothetical protein LOC54823							59.0	64.0	63.0					1																	185144079		2203	4300	6503	SO:0001583	missense	54823							g.chr1:185144079G>C	AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 26"""	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.800G>C	1.37:g.185144079G>C	ENSP00000356470:p.Arg267Thr					C1orf26_uc001grh.3_Missense_Mutation_p.R267T	p.R267T	NM_001105518	NP_001098988	Q5T5J6	SWT1_HUMAN			5	914	+			267					Q8NEK9|Q9BZQ7|Q9NXQ0	Missense_Mutation	SNP	ENST00000367500.4	37	c.800G>C	CCDS1367.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.460090	0.26248	.	.	ENSG00000116668	ENST00000367501;ENST00000367500	T;T	0.19532	2.14;2.14	5.17	-3.79	0.04320	.	0.498726	0.18306	N	0.145241	T	0.10165	0.0249	N	0.22421	0.69	0.09310	N	1	B	0.23735	0.09	B	0.18871	0.023	T	0.12785	-1.0534	10	0.56958	D	0.05	.	5.6693	0.17713	0.3048:0.4372:0.258:0.0	.	267	Q5T5J6	SWT1_HUMAN	T	267	ENSP00000356471:R267T;ENSP00000356470:R267T	ENSP00000356470:R267T	R	+	2	0	SWT1	183410702	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.210000	0.09345	-0.576000	0.05974	-0.956000	0.02647	AGA		0.368	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1		NM_017673		54	88	0	0	0	0.01441	0	54	88		
CRB1	23418	broad.mit.edu	37	1	197390429	197390429	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:197390429G>A	ENST00000367400.3	+	6	1606	c.1471G>A	c.(1471-1473)Gat>Aat	p.D491N	CRB1_ENST00000543483.1_Missense_Mutation_p.D190N|CRB1_ENST00000535699.1_Missense_Mutation_p.D422N|CRB1_ENST00000367397.1_De_novo_Start_OutOfFrame|CRB1_ENST00000544212.1_De_novo_Start_OutOfFrame|CRB1_ENST00000538660.1_Missense_Mutation_p.D491N|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000367399.2_Missense_Mutation_p.D379N	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	491	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.		D -> V (found in a patient with early- onset retinal dystrophy; unknown pathological significance). {ECO:0000269|PubMed:20683928}.		cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D491N(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ATTTGAGGGCGATGGCTTCCT	0.517																																						uc001gtz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(5)|skin(3)|large_intestine(1)	9						c.(1471-1473)GAT>AAT		crumbs homolog 1 precursor							108.0	97.0	101.0					1																	197390429		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197390429G>A		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.1471G>A	1.37:g.197390429G>A	ENSP00000356370:p.Asp491Asn					CRB1_uc010poz.1_Missense_Mutation_p.D422N|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.D379N|CRB1_uc010ppb.1_Missense_Mutation_p.D491N|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_5'UTR|CRB1_uc001gub.1_Missense_Mutation_p.D140N	p.D491N	NM_201253	NP_957705	P82279	CRUM1_HUMAN			6	1606	+			491			Extracellular (Potential).|Laminin G-like 1.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.1471G>A	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.762289	0.00651	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000543483;ENST00000367401	T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22	5.82	-0.494	0.12034	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	.	.	.	.	T	0.35828	0.0945	N	0.00193	-1.875	0.28017	N	0.934662	B;B;B;B;B	0.10296	0.002;0.0;0.003;0.001;0.001	B;B;B;B;B	0.06405	0.001;0.0;0.002;0.0;0.0	T	0.40701	-0.9549	9	0.11182	T	0.66	.	7.0169	0.24892	0.6755:0.112:0.2124:0.0	.	491;422;379;140;491	B7Z5T2;F5H0L2;P82279-3;P82279-4;P82279	.;.;.;.;CRUM1_HUMAN	N	422;491;491;379;190;140	ENSP00000438786:D422N;ENSP00000438091:D491N;ENSP00000356370:D491N;ENSP00000356369:D379N;ENSP00000439579:D190N	ENSP00000356369:D379N	D	+	1	0	CRB1	195657052	0.013000	0.17824	0.007000	0.13788	0.001000	0.01503	0.490000	0.22403	-0.339000	0.08401	-1.283000	0.01379	GAT		0.517	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2		NM_201253		31	47	0	0	0	0.010818	0	31	47		
DIEXF	27042	broad.mit.edu	37	1	210006542	210006542	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:210006542C>T	ENST00000491415.2	+	4	458	c.401C>T	c.(400-402)tCt>tTt	p.S134F		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	134	Glu-rich.				multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.S134F(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						GTAGCTTTATCTGCTGACCCT	0.398																																						uc001hhr.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(400-402)TCT>TTT		digestive-organ expansion factor homolog							45.0	44.0	44.0					1																	210006542		2203	4300	6503	SO:0001583	missense	27042				multicellular organismal development	nucleus		g.chr1:210006542C>T	BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 107"""	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.401C>T	1.37:g.210006542C>T	ENSP00000419005:p.Ser134Phe					C1orf107_uc009xcu.1_5'UTR	p.S134F	NM_014388	NP_055203	Q68CQ4	DIEXF_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0367)	4	477	+			134			Glu-rich.		O75992|Q4VY00|Q63HL9	Missense_Mutation	SNP	ENST00000491415.2	37	c.401C>T	CCDS1493.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.089556	0.36855	.	.	ENSG00000117597	ENST00000491415	T	0.46819	0.86	5.68	2.78	0.32641	.	1.280240	0.04916	N	0.454026	T	0.35422	0.0931	N	0.19112	0.55	0.09310	N	1	B	0.13594	0.008	B	0.10450	0.005	T	0.30534	-0.9975	10	0.56958	D	0.05	-0.0303	7.1408	0.25554	0.1463:0.7051:0.0:0.1486	.	134	Q68CQ4	DIEXF_HUMAN	F	134	ENSP00000419005:S134F	ENSP00000419005:S134F	S	+	2	0	DIEXF	208073165	0.004000	0.15560	0.002000	0.10522	0.391000	0.30476	0.329000	0.19698	0.333000	0.23563	0.650000	0.86243	TCT		0.398	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089127.2		NM_014388		24	40	0	0	0	0.016522	0	24	40		
ESRRG	2104	broad.mit.edu	37	1	216850784	216850784	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:216850784A>G	ENST00000408911.3	-	2	259	c.106T>C	c.(106-108)Tcg>Ccg	p.S36P	ESRRG_ENST00000493603.1_Missense_Mutation_p.S13P|ESRRG_ENST00000361525.3_Missense_Mutation_p.S13P|ESRRG_ENST00000361395.2_Missense_Mutation_p.S13P|ESRRG_ENST00000493748.1_Missense_Mutation_p.S13P|ESRRG_ENST00000391890.3_Missense_Mutation_p.S13P|ESRRG_ENST00000366938.2_Missense_Mutation_p.S13P|ESRRG_ENST00000366937.1_Missense_Mutation_p.S41P|ESRRG_ENST00000359162.2_Missense_Mutation_p.S13P|ESRRG_ENST00000366940.2_Missense_Mutation_p.S13P|ESRRG_ENST00000463665.1_Missense_Mutation_p.S13P|ESRRG_ENST00000487276.1_Missense_Mutation_p.S13P|ESRRG_ENST00000360012.3_Missense_Mutation_p.S13P	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	36					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.S36P(1)		endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	ATGAAGGACGAACAGCTGGAA	0.527																																						uc001hkw.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|kidney(1)	2						c.(106-108)TCG>CCG		estrogen-related receptor gamma isoform 1	Diethylstilbestrol(DB00255)						94.0	83.0	87.0					1																	216850784		2203	4300	6503	SO:0001583	missense	2104				positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:216850784A>G	AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"""Nuclear hormone receptors"""	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.106T>C	1.37:g.216850784A>G	ENSP00000386171:p.Ser36Pro					ESRRG_uc001hky.1_Missense_Mutation_p.S13P|ESRRG_uc009xdp.1_Missense_Mutation_p.S13P|ESRRG_uc001hkz.1_Missense_Mutation_p.S13P|ESRRG_uc010puc.1_Missense_Mutation_p.S13P|ESRRG_uc001hla.1_Missense_Mutation_p.S13P|ESRRG_uc001hlb.1_Missense_Mutation_p.S13P|ESRRG_uc010pud.1_Intron|ESRRG_uc001hlc.1_Missense_Mutation_p.S13P|ESRRG_uc001hld.1_Missense_Mutation_p.S13P|ESRRG_uc001hkx.1_Missense_Mutation_p.S41P|ESRRG_uc009xdo.1_Missense_Mutation_p.S13P|ESRRG_uc001hle.1_Missense_Mutation_p.S13P	p.S36P	NM_001438	NP_001429	P62508	ERR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	2	272	-			36					A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Missense_Mutation	SNP	ENST00000408911.3	37	c.106T>C	CCDS41468.1	.	.	.	.	.	.	.	.	.	.	A	15.66	2.899331	0.52227	.	.	ENSG00000196482	ENST00000361525;ENST00000366940;ENST00000366937;ENST00000408911;ENST00000359162;ENST00000361395;ENST00000366938;ENST00000360012;ENST00000493603;ENST00000391890;ENST00000463665;ENST00000487276;ENST00000354407;ENST00000493748;ENST00000475275;ENST00000469486;ENST00000459955;ENST00000481543	D;D;D;D;D;D;D;D;D;D;D;D;D;D;T;T;T	0.94650	-3.19;-3.19;-3.2;-3.21;-3.19;-3.19;-3.19;-3.19;-3.19;-3.22;-3.48;-3.19;-3.19;-3.02;0.79;0.77;0.75	6.16	6.16	0.99307	.	0.059434	0.64402	D	0.000001	D	0.86401	0.5924	N	0.03608	-0.345	0.50171	D	0.999859	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.0;0.003;0.0	T	0.82123	-0.0613	10	0.20046	T	0.44	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	13;41;36	E9PGB7;F8W8J3;P62508	.;.;ERR3_HUMAN	P	13;13;41;36;13;13;13;13;13;13;13;13;13;13;13;13;13;13	ENSP00000355225:S13P;ENSP00000355907:S13P;ENSP00000355904:S41P;ENSP00000386171:S36P;ENSP00000352077:S13P;ENSP00000354584:S13P;ENSP00000355905:S13P;ENSP00000353108:S13P;ENSP00000419594:S13P;ENSP00000375761:S13P;ENSP00000418629:S13P;ENSP00000419155:S13P;ENSP00000417374:S13P;ENSP00000419514:S13P;ENSP00000417900:S13P;ENSP00000420370:S13P;ENSP00000418895:S13P	ENSP00000346386:S13P	S	-	1	0	ESRRG	214917407	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.546000	0.53656	2.367000	0.80283	0.528000	0.53228	TCG		0.527	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2		NM_206595		29	32	0	0	0	0.007291	0	29	32		
MARK1	4139	broad.mit.edu	37	1	220825393	220825393	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:220825393C>T	ENST00000366917.4	+	15	1903	c.1637C>T	c.(1636-1638)tCa>tTa	p.S546L	MARK1_ENST00000402574.1_Missense_Mutation_p.S411L|MARK1_ENST00000366918.4_Missense_Mutation_p.S524L					MAP/microtubule affinity-regulating kinase 1									p.S546L(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		GCTGTCCCCTCAGCACGACCC	0.517																																						uc001hmn.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1)	10						c.(1636-1638)TCA>TTA		MAP/microtubule affinity-regulating kinase 1							103.0	95.0	98.0					1																	220825393		2203	4300	6503	SO:0001583	missense	4139				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:220825393C>T	AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.1637C>T	1.37:g.220825393C>T	ENSP00000355884:p.Ser546Leu					MARK1_uc009xdw.2_Missense_Mutation_p.S546L|MARK1_uc010pun.1_Missense_Mutation_p.S546L|MARK1_uc001hmm.3_Missense_Mutation_p.S524L	p.S546L	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN		GBM - Glioblastoma multiforme(131;0.0407)	15	2234	+			546						Missense_Mutation	SNP	ENST00000366917.4	37	c.1637C>T	CCDS31029.2	.	.	.	.	.	.	.	.	.	.	C	22.7	4.329322	0.81690	.	.	ENSG00000116141	ENST00000402574;ENST00000366918;ENST00000366917	T;T;T	0.32272	1.46;1.46;1.46	5.95	5.95	0.96441	.	0.066636	0.64402	D	0.000008	T	0.38957	0.1060	M	0.63428	1.95	0.80722	D	1	B;B;B;B	0.30236	0.146;0.274;0.001;0.217	B;B;B;B	0.33960	0.034;0.173;0.001;0.089	T	0.08700	-1.0709	10	0.36615	T	0.2	.	20.3748	0.98911	0.0:1.0:0.0:0.0	.	546;411;546;524	B4DIB3;Q9P0L2-2;Q9P0L2;Q9P0L2-3	.;.;MARK1_HUMAN;.	L	411;524;546	ENSP00000386017:S411L;ENSP00000355885:S524L;ENSP00000355884:S546L	ENSP00000355884:S546L	S	+	2	0	MARK1	218892016	1.000000	0.71417	0.991000	0.47740	0.984000	0.73092	7.466000	0.80914	2.817000	0.96982	0.563000	0.77884	TCA		0.517	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1				34	66	0	0	0	0.017118	0	34	66		
RYR2	6262	broad.mit.edu	37	1	237875065	237875065	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:237875065G>C	ENST00000366574.2	+	71	10568	c.10251G>C	c.(10249-10251)caG>caC	p.Q3417H	RYR2_ENST00000542537.1_Missense_Mutation_p.Q3401H|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.Q3415H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3417					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.Q3415H(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAGAAGAGCAGAACTTCGTTG	0.328																																						uc001hyl.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(10249-10251)CAG>CAC		cardiac muscle ryanodine receptor							51.0	50.0	50.0					1																	237875065		1823	4068	5891	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237875065G>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.10251G>C	1.37:g.237875065G>C	ENSP00000355533:p.Gln3417His					RYR2_uc010pxz.1_Missense_Mutation_p.Q372H	p.Q3417H	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		71	10371	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3417					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.10251G>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.098894	0.76870	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.97328	-4.34;-4.31;-4.34	4.97	4.06	0.47325	.	0.000000	0.56097	U	0.000034	D	0.98292	0.9434	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.98860	1.0762	10	0.87932	D	0	.	13.204	0.59785	0.0775:0.0:0.9225:0.0	.	3417	Q92736	RYR2_HUMAN	H	3417;3415;3401;372	ENSP00000355533:Q3417H;ENSP00000353174:Q3415H;ENSP00000443798:Q3401H	ENSP00000353174:Q3415H	Q	+	3	2	RYR2	235941688	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.871000	0.63042	1.095000	0.41419	0.591000	0.81541	CAG		0.328	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2		NM_001035		3	26	0	0	0	0.004672	0	3	26		
RGS7	6000	broad.mit.edu	37	1	240990424	240990424	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:240990424T>A	ENST00000407727.1	-	9	657	c.658A>T	c.(658-660)Atg>Ttg	p.M220L	RGS7_ENST00000366562.4_Missense_Mutation_p.M220L|RGS7_ENST00000366564.1_Missense_Mutation_p.M220L|RGS7_ENST00000331110.7_Missense_Mutation_p.M194L|RGS7_ENST00000401882.1_Missense_Mutation_p.M167L|RGS7_ENST00000446183.2_Missense_Mutation_p.M136L|RGS7_ENST00000366565.1_Missense_Mutation_p.M220L|RGS7_ENST00000366563.1_Missense_Mutation_p.M220L|RGS7_ENST00000348120.2_Missense_Mutation_p.M167L			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	220					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.M220L(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GGGTTTCTCATTCTGGATGAC	0.403																																						uc001hyv.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(4)|skin(2)|kidney(1)	7						c.(658-660)ATG>TTG		regulator of G-protein signaling 7							186.0	152.0	164.0					1																	240990424		2203	4300	6503	SO:0001583	missense	6000				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	g.chr1:240990424T>A	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.658A>T	1.37:g.240990424T>A	ENSP00000384428:p.Met220Leu					RGS7_uc010pyh.1_Missense_Mutation_p.M194L|RGS7_uc010pyj.1_Missense_Mutation_p.M136L|RGS7_uc001hyu.2_Missense_Mutation_p.M220L|RGS7_uc009xgn.1_Missense_Mutation_p.M167L|RGS7_uc001hyw.2_Missense_Mutation_p.M220L|RGS7_uc001hyt.2_Missense_Mutation_p.M52L	p.M220L	NM_002924	NP_002915	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		10	988	-		all_cancers(173;0.0131)	220					Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	ENST00000407727.1	37	c.658A>T		.	.	.	.	.	.	.	.	.	.	T	11.71	1.719658	0.30503	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000440928;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	T;T;T;T;T;T;T;T;T;T	0.32515	1.62;1.63;1.65;1.63;1.45;1.6;1.63;1.65;1.64;1.6	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.21921	0.0528	L	0.40543	1.245	0.49483	D	0.99979	B;B;B;B;B;B;B	0.09022	0.0;0.0;0.002;0.0;0.001;0.0;0.0	B;B;B;B;B;B;B	0.08055	0.001;0.001;0.003;0.003;0.003;0.001;0.001	T	0.06250	-1.0837	10	0.05436	T	0.98	-14.9632	12.0963	0.53757	0.0:0.0:0.0:1.0	.	136;194;167;220;220;220;220	B7Z223;B7Z257;P49802-4;P49802-2;P49802-5;P49802-3;P49802	.;.;.;.;.;.;RGS7_HUMAN	L	194;220;220;220;51;167;136;220;220;167	ENSP00000331485:M194L;ENSP00000355523:M220L;ENSP00000355522:M220L;ENSP00000355521:M220L;ENSP00000404399:M51L;ENSP00000341242:M167L;ENSP00000390138:M136L;ENSP00000355520:M220L;ENSP00000384428:M220L;ENSP00000385508:M167L	ENSP00000331485:M194L	M	-	1	0	RGS7	239057047	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.523000	0.73787	2.125000	0.65367	0.533000	0.62120	ATG		0.403	RGS7-204	KNOWN	basic	protein_coding	protein_coding			NM_002924		21	49	0	0	0	0.014323	0	21	49		
PLD5	200150	broad.mit.edu	37	1	242428713	242428713	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:242428713G>A	ENST00000536534.2	-	4	774	c.533C>T	c.(532-534)tCg>tTg	p.S178L	PLD5_ENST00000474177.1_5'UTR|PLD5_ENST00000427495.1_Missense_Mutation_p.S116L|PLD5_ENST00000442594.2_Missense_Mutation_p.S86L			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	178						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)	p.S178L(1)|p.S86L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			AATATTTTGCGAAGTCAGCTG	0.358																																						uc001hzn.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(6)	6						c.(532-534)TCG>TTG		RecName: Full=Inactive phospholipase D5;          Short=Inactive PLD 5; AltName: Full=Inactive choline phosphatase 5; AltName: Full=Inactive phosphatidylcholine-hydrolyzing phospholipase D5; AltName: Full=PLDc;							68.0	64.0	66.0					1																	242428713		2203	4300	6503	SO:0001583	missense	200150					integral to membrane	catalytic activity	g.chr1:242428713G>A	AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.533C>T	1.37:g.242428713G>A	ENSP00000440896:p.Ser178Leu					PLD5_uc001hzl.3_Missense_Mutation_p.S116L|PLD5_uc001hzm.3_5'UTR|PLD5_uc001hzo.1_Missense_Mutation_p.S86L	p.S178L			Q8N7P1	PLD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0329)		4	660	-	Melanoma(84;0.242)		178					A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	SNP	ENST00000536534.2	37	c.533C>T	CCDS1621.2	.	.	.	.	.	.	.	.	.	.	G	16.59	3.166091	0.57476	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534;ENST00000459864	T;T;T;T	0.49139	2.51;2.51;2.51;0.79	5.55	5.55	0.83447	.	0.256747	0.39475	N	0.001347	T	0.47266	0.1436	L	0.52011	1.625	0.45946	D	0.998774	P;P;D	0.55800	0.854;0.772;0.973	B;B;P	0.44623	0.308;0.105;0.455	T	0.37957	-0.9683	10	0.33141	T	0.24	-4.5304	16.5937	0.84789	0.0:0.0:1.0:0.0	.	86;178;116	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	L	116;86;178;116	ENSP00000401285:S116L;ENSP00000414188:S86L;ENSP00000440896:S178L;ENSP00000438191:S116L	ENSP00000401285:S116L	S	-	2	0	PLD5	240495336	0.995000	0.38212	0.943000	0.38184	0.951000	0.60555	6.013000	0.70776	2.768000	0.95171	0.655000	0.94253	TCG		0.358	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2		NM_152666		19	43	0	0	0	0.010504	0	19	43		
ZNF124	7678	broad.mit.edu	37	1	247323048	247323048	+	Missense_Mutation	SNP	G	G	A	rs376157968		TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:247323048G>A	ENST00000543802.2	-	2	187	c.98C>T	c.(97-99)tCc>tTc	p.S33F	ZNF124_ENST00000491356.1_Missense_Mutation_p.S33F|ZNF124_ENST00000340684.6_Missense_Mutation_p.S33F|ZNF124_ENST00000491848.1_5'UTR|ZNF124_ENST00000472531.1_Missense_Mutation_p.S33F			Q15973	ZN124_HUMAN	zinc finger protein 124	33	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S33F(1)		biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			ATTCTTCTGGGAAGGATCCAA	0.423													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17772	0.0		0.0	False		,,,				2504	0.0					uc001ick.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(1)	1						c.(97-99)TCC>TTC		zinc finger protein 124		G	PHE/SER	2,4404	4.2+/-10.8	0,2,2201	105.0	106.0	106.0		98	-0.4	1.0	1		106	0,8600		0,0,4300	no	missense	ZNF124	NM_003431.2	155	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	33/290	247323048	2,13004	2203	4300	6503	SO:0001583	missense	7678				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:247323048G>A	S54641	CCDS31089.1, CCDS58067.1, CCDS73057.1	1q44	2013-01-08	2006-06-13		ENSG00000196418	ENSG00000196418		"""Zinc fingers, C2H2-type"", ""-"""	12907	protein-coding gene	gene with protein product		194631	"""zinc finger protein 124 (HZF-16)"""			7916577	Standard	XM_005273256		Approved	HZF16, HZF-16	uc001icj.1	Q15973	OTTHUMG00000041112	ENST00000543802.2:c.98C>T	1.37:g.247323048G>A	ENSP00000440365:p.Ser33Phe					ZNF124_uc001ici.2_RNA|ZNF124_uc001icj.1_Missense_Mutation_p.S33F	p.S33F	NM_003431	NP_003422	Q15973	ZN124_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00739)		2	237	-	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		33			KRAB.		B3KNP3|J3KSE1|Q15974|Q4VAJ7|Q5T2V4	Missense_Mutation	SNP	ENST00000543802.2	37	c.98C>T		.	.	.	.	.	.	.	.	.	.	G	10.79	1.449204	0.26074	4.54E-4	0.0	ENSG00000196418	ENST00000340684	T	0.01887	4.58	0.646	-0.385	0.12470	Krueppel-associated box (4);	.	.	.	.	T	0.06645	0.0170	.	.	.	0.29793	N	0.833036	P;D	0.58970	0.843;0.984	P;D	0.63877	0.737;0.919	T	0.17992	-1.0351	7	0.48119	T	0.1	.	.	.	.	.	33;33	Q15973;Q15973-4	ZN124_HUMAN;.	F	33	ENSP00000340749:S33F	ENSP00000340749:S33F	S	-	2	0	ZNF124	245389671	0.000000	0.05858	0.991000	0.47740	0.990000	0.78478	-1.183000	0.03079	-0.191000	0.10448	0.467000	0.42956	TCC		0.423	ZNF124-009	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000447393.1		NM_003431		31	72	0	0	0	0.012213	0	31	72		
ZNF496	84838	broad.mit.edu	37	1	247464253	247464253	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:247464253G>A	ENST00000294753.4	-	9	1796	c.1332C>T	c.(1330-1332)ttC>ttT	p.F444F	ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Silent_p.F480F	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	444					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.F444F(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			CGCTGTCGCTGAACAGCTCCC	0.642																																						uc001ico.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(1330-1332)TTC>TTT		zinc finger protein 496							68.0	71.0	70.0					1																	247464253		2203	4300	6503	SO:0001819	synonymous_variant	84838				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:247464253G>A	BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.1332C>T	1.37:g.247464253G>A						ZNF496_uc009xgv.2_Silent_p.F480F|ZNF496_uc001icp.2_Silent_p.F444F	p.F444F	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00703)		9	1797	-	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		444			C2H2-type 2.		Q8TBS2	Silent	SNP	ENST00000294753.4	37	c.1332C>T	CCDS1631.1																																																																																				0.642	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098655.2		NM_032752		40	50	0	0	0	0.025465	0	40	50		
ITIH2	3698	broad.mit.edu	37	10	7785117	7785117	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr10:7785117G>A	ENST00000358415.4	+	17	2270	c.2104G>A	c.(2104-2106)Gac>Aac	p.D702N	ITIH2_ENST00000379587.4_Missense_Mutation_p.D691N	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	702					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.D702N(1)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						AGTTGAAAATGACCCACATTT	0.318																																						uc001ijs.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(2104-2106)GAC>AAC		inter-alpha globulin inhibitor H2 polypeptide							109.0	125.0	120.0					10																	7785117		2203	4299	6502	SO:0001583	missense	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7785117G>A	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.2104G>A	10.37:g.7785117G>A	ENSP00000351190:p.Asp702Asn						p.D702N	NM_002216	NP_002207	P19823	ITIH2_HUMAN			17	2266	+			702					Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	37	c.2104G>A	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	G	32	5.131609	0.94473	.	.	ENSG00000151655	ENST00000358415;ENST00000379587	T;T	0.03745	3.82;3.83	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.23611	0.0571	M	0.85630	2.765	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00695	-1.1606	10	0.72032	D	0.01	-28.5466	19.6457	0.95776	0.0:0.0:1.0:0.0	.	702	P19823	ITIH2_HUMAN	N	702;691	ENSP00000351190:D702N;ENSP00000368906:D691N	ENSP00000351190:D702N	D	+	1	0	ITIH2	7825123	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.194000	0.94962	2.620000	0.88729	0.655000	0.94253	GAC		0.318	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2		NM_002216		55	120	0	0	0	0.01441	0	55	120		
FAM107B	83641	broad.mit.edu	37	10	14572359	14572359	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr10:14572359G>C	ENST00000378470.1	-	2	386	c.100C>G	c.(100-102)Cac>Gac	p.H34D	FAM107B_ENST00000471815.1_5'UTR|FAM107B_ENST00000478076.1_Missense_Mutation_p.H34D|FAM107B_ENST00000479731.1_Missense_Mutation_p.H34D|FAM107B_ENST00000378465.3_Missense_Mutation_p.H34D|FAM107B_ENST00000496330.1_Missense_Mutation_p.H34D|FAM107B_ENST00000468747.1_Missense_Mutation_p.H34D|FAM107B_ENST00000378462.1_Missense_Mutation_p.H34D|FAM107B_ENST00000181796.2_Missense_Mutation_p.H209D|FAM107B_ENST00000378458.2_Missense_Mutation_p.H34D|FAM107B_ENST00000378467.4_Missense_Mutation_p.H34D	NM_001282695.1|NM_001282696.1|NM_001282697.1|NM_001282698.1|NM_001282700.1|NM_001282701.1|NM_001282702.1|NM_001282703.1	NP_001269624.1|NP_001269625.1|NP_001269626.1|NP_001269627.1|NP_001269629.1|NP_001269630.1|NP_001269631.1|NP_001269632.1	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	34					sensory perception of sound (GO:0007605)			p.H209D(1)		breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGTTCTCTGTGAAGATCTTGA	0.348																																						uc001imx.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(4)	4						c.(100-102)CAC>GAC		hypothetical protein LOC83641							117.0	115.0	116.0					10																	14572359		2203	4300	6503	SO:0001583	missense	83641							g.chr10:14572359G>C	AK127413	CCDS7102.1, CCDS60486.1	10p14	2006-01-17	2006-01-17	2005-11-20	ENSG00000065809	ENSG00000065809			23726	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 45"""	C10orf45		11230166	Standard	XM_005252616		Approved	FLJ45505, MGC11034	uc001ina.1	Q9H098	OTTHUMG00000017709	ENST00000378470.1:c.100C>G	10.37:g.14572359G>C	ENSP00000367731:p.His34Asp					FAM107B_uc001ina.1_Missense_Mutation_p.H209D|FAM107B_uc010qbu.1_RNA|FAM107B_uc009xjg.1_Missense_Mutation_p.H34D|FAM107B_uc001imy.1_Missense_Mutation_p.H34D|FAM107B_uc001imz.1_Missense_Mutation_p.H34D	p.H34D	NM_031453	NP_113641	Q9H098	F107B_HUMAN			2	345	-			34					A8K1P4|D3DRT2|Q5T9K7|Q5T9K8|Q6ZSI4	Missense_Mutation	SNP	ENST00000378470.1	37	c.100C>G		.	.	.	.	.	.	.	.	.	.	G	26.2	4.713289	0.89112	.	.	ENSG00000065809	ENST00000378470;ENST00000181796;ENST00000468747;ENST00000378467;ENST00000378465;ENST00000378458;ENST00000478076;ENST00000378462;ENST00000378461;ENST00000496330;ENST00000479731;ENST00000468492;ENST00000452706;ENST00000489100;ENST00000494865;ENST00000475786;ENST00000488576;ENST00000442012;ENST00000482277;ENST00000472095	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31	5.21	5.21	0.72293	.	0.092111	0.85682	D	0.000000	D	0.83022	0.5164	M	0.80332	2.49	0.80722	D	1	D;D	0.89917	1.0;0.982	D;P	0.85130	0.997;0.861	D	0.85555	0.1224	10	0.87932	D	0	-17.425	17.7337	0.88386	0.0:0.0:1.0:0.0	.	209;34	Q9H098-2;Q9H098	.;F107B_HUMAN	D	34;209;34;34;34;34;34;34;34;34;34;34;34;34;34;34;34;34;34;34	ENSP00000367731:H34D;ENSP00000181796:H209D;ENSP00000418120:H34D;ENSP00000367728:H34D;ENSP00000367726:H34D;ENSP00000367719:H34D;ENSP00000417782:H34D;ENSP00000367723:H34D;ENSP00000418330:H34D;ENSP00000419603:H34D;ENSP00000420444:H34D;ENSP00000413676:H34D;ENSP00000420249:H34D;ENSP00000418395:H34D;ENSP00000417242:H34D;ENSP00000420314:H34D;ENSP00000397949:H34D;ENSP00000417845:H34D;ENSP00000419064:H34D	ENSP00000181796:H209D	H	-	1	0	FAM107B	14612365	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.436000	0.82500	0.591000	0.81541	CAC		0.348	FAM107B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046899.1		NM_031453		34	57	0	0	0	0.012213	0	34	57		
ARHGAP12	94134	broad.mit.edu	37	10	32197217	32197217	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr10:32197217C>A	ENST00000344936.2	-	3	801	c.567G>T	c.(565-567)gaG>gaT	p.E189D	ARHGAP12_ENST00000396144.4_Missense_Mutation_p.E189D|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.E189D|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.E189D|ARHGAP12_ENST00000375250.5_Missense_Mutation_p.E189D	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	189					morphogenesis of an epithelial sheet (GO:0002011)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.E189D(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				AGCTAGTTTTCTCTACATCCA	0.433																																						uc001ivz.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(565-567)GAG>GAT		Rho GTPase activating protein 12							90.0	87.0	88.0					10																	32197217		2203	4300	6503	SO:0001583	missense	94134				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr10:32197217C>A	AY033594	CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1	10p11.22	2013-01-10			ENSG00000165322	ENSG00000165322		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16348	protein-coding gene	gene with protein product		610577				11854031	Standard	NM_001270695		Approved	FLJ20737, FLJ10971, FLJ21785	uc001ivz.2	Q8IWW6	OTTHUMG00000017911	ENST00000344936.2:c.567G>T	10.37:g.32197217C>A	ENSP00000345808:p.Glu189Asp					ARHGAP12_uc001ivy.1_Missense_Mutation_p.E187D|ARHGAP12_uc009xls.2_Missense_Mutation_p.E187D|ARHGAP12_uc001iwb.1_Missense_Mutation_p.E187D|ARHGAP12_uc001iwc.1_Missense_Mutation_p.E187D|ARHGAP12_uc009xlq.1_Missense_Mutation_p.E187D|ARHGAP12_uc001iwd.1_Missense_Mutation_p.E187D|ARHGAP12_uc009xlr.1_Missense_Mutation_p.E187D	p.E189D	NM_018287	NP_060757	Q8IWW6	RHG12_HUMAN			3	837	-		Prostate(175;0.0199)	189					B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76	Missense_Mutation	SNP	ENST00000344936.2	37	c.567G>T	CCDS7170.1	.	.	.	.	.	.	.	.	.	.	C	10.77	1.445407	0.25987	.	.	ENSG00000165322	ENST00000311380;ENST00000375250;ENST00000344936;ENST00000396144;ENST00000375245	T;T;T;T;T	0.08807	3.1;3.05;3.13;3.13;3.1	5.51	3.67	0.42095	.	0.190164	0.52532	D	0.000070	T	0.04952	0.0133	N	0.08118	0	0.38204	D	0.940272	P;P;P;P;P;P	0.49447	0.731;0.488;0.622;0.924;0.605;0.825	B;B;B;P;B;B	0.45276	0.175;0.155;0.295;0.475;0.155;0.327	T	0.53464	-0.8435	10	0.20519	T	0.43	.	8.9741	0.35924	0.0:0.7346:0.0:0.2654	.	189;189;189;189;189;189	Q1RLN5;B3KR88;Q8IWW6-2;Q504X1;Q8IWW6;Q8IWW6-3	.;.;.;.;RHG12_HUMAN;.	D	189	ENSP00000310984:E189D;ENSP00000364399:E189D;ENSP00000345808:E189D;ENSP00000379448:E189D;ENSP00000364394:E189D	ENSP00000310984:E189D	E	-	3	2	ARHGAP12	32237223	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.932000	0.28884	0.701000	0.31803	0.655000	0.94253	GAG		0.433	ARHGAP12-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047465.1				31	63	1	0	1.61788e-16	0.012213	1.77875e-16	31	63		
FAM13C	220965	broad.mit.edu	37	10	61022288	61022288	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr10:61022288G>A	ENST00000373868.2	-	10	1229	c.1142C>T	c.(1141-1143)cCg>cTg	p.P381L	FAM13C_ENST00000419214.2_Intron|FAM13C_ENST00000422313.2_Missense_Mutation_p.P381L|FAM13C_ENST00000373867.3_Missense_Mutation_p.P298L|FAM13C_ENST00000277705.6_Missense_Mutation_p.P402L|FAM13C_ENST00000468840.2_Missense_Mutation_p.P298L|FAM13C_ENST00000442566.3_Missense_Mutation_p.P402L|FAM13C_ENST00000435852.2_Missense_Mutation_p.P381L	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	381								p.P381L(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GCTTGGCTCCGGGCCCGCAGC	0.542																																						uc001jkn.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(1141-1143)CCG>CTG		hypothetical protein LOC220965 isoform 1							68.0	71.0	70.0					10																	61022288		2203	4300	6503	SO:0001583	missense	220965							g.chr10:61022288G>A	U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"""family with sequence similarity 13, member C1"""	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.1142C>T	10.37:g.61022288G>A	ENSP00000362975:p.Pro381Leu					FAM13C_uc001jko.2_Intron|FAM13C_uc010qid.1_Missense_Mutation_p.P298L|FAM13C_uc010qie.1_Missense_Mutation_p.P298L|FAM13C_uc010qif.1_Missense_Mutation_p.P403L|FAM13C_uc001jkp.2_Missense_Mutation_p.P298L	p.P381L	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN			11	1276	-			381					B7ZB77|Q5T631|Q6P2M3|Q99787	Missense_Mutation	SNP	ENST00000373868.2	37	c.1142C>T	CCDS7255.1	.	.	.	.	.	.	.	.	.	.	G	7.490	0.650456	0.14516	.	.	ENSG00000148541	ENST00000373867;ENST00000373868;ENST00000442566;ENST00000277705;ENST00000468840;ENST00000435852;ENST00000422313	T;T;T;T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96	5.93	5.02	0.67125	.	0.473844	0.21842	N	0.068318	T	0.62998	0.2474	L	0.27053	0.805	0.33532	D	0.593708	B;B;B;B	0.15473	0.013;0.0;0.007;0.008	B;B;B;B	0.09377	0.004;0.0;0.004;0.003	T	0.62891	-0.6758	10	0.29301	T	0.29	-2.7884	14.7326	0.69393	0.1395:0.0:0.8605:0.0	.	381;298;381;381	B7Z2K3;B7ZB77;Q8NE31-2;Q8NE31	.;.;.;FA13C_HUMAN	L	298;381;402;402;298;381;381	ENSP00000362974:P298L;ENSP00000362975:P381L;ENSP00000395661:P402L;ENSP00000277705:P402L;ENSP00000423896:P298L;ENSP00000392302:P381L;ENSP00000400241:P381L	ENSP00000277705:P402L	P	-	2	0	FAM13C	60692294	0.771000	0.28555	1.000000	0.80357	0.201000	0.24016	2.430000	0.44766	0.862000	0.35528	-1.119000	0.02030	CCG		0.542	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2				8	68	0	0	0	0.00308	0	8	68		
PRF1	5551	broad.mit.edu	37	10	72360409	72360409	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr10:72360409T>G	ENST00000441259.1	-	2	410	c.250A>C	c.(250-252)Acc>Ccc	p.T84P	PRF1_ENST00000373209.2_Missense_Mutation_p.T84P	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	84	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)	p.T84P(2)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						CGCTGGAGGGTGCCCTCCTGT	0.662			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis																													uc009xqg.2		NaN	yes	Rec			10	10q22	5551	M	perforin 1 (pore forming protein)		Type 2 familial hemophagocytic lymphohistiocytosis	L		various leukaemia|lymphoma			2	Substitution - Missense(2)		urinary_tract(1)|lung(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(250-252)ACC>CCC		perforin 1 precursor							31.0	31.0	31.0					10																	72360409		2203	4300	6503	SO:0001583	missense	5551	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity	g.chr10:72360409T>G	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"""Perforin"", ""perforin 1 (preforming protein)"""	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.250A>C	10.37:g.72360409T>G	ENSP00000398568:p.Thr84Pro					PRF1_uc001jrf.3_Missense_Mutation_p.T84P	p.T84P	NM_001083116	NP_001076585	P14222	PERF_HUMAN			2	411	-			84			MACPF.		B2R6X4|Q59F57|Q86WX7	Missense_Mutation	SNP	ENST00000441259.1	37	c.250A>C	CCDS7305.1	.	.	.	.	.	.	.	.	.	.	T	7.265	0.605903	0.14002	.	.	ENSG00000180644	ENST00000373209;ENST00000441259;ENST00000318971	D;D	0.91124	-2.79;-2.79	5.57	-1.68	0.08212	Membrane attack complex component/perforin (MACPF) domain (1);	1.046920	0.07443	N	0.897716	T	0.80121	0.4565	N	0.22421	0.69	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.63976	-0.6515	10	0.35671	T	0.21	-8.3892	2.3318	0.04238	0.1216:0.4276:0.1199:0.331	.	84	P14222	PERF_HUMAN	P	84	ENSP00000362305:T84P;ENSP00000398568:T84P	ENSP00000316746:T84P	T	-	1	0	PRF1	72030415	0.000000	0.05858	0.000000	0.03702	0.251000	0.25915	-0.892000	0.04131	-0.026000	0.13895	-0.441000	0.05720	ACC		0.662	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048517.2		NM_005041		7	23	0	0	0	0.006214	0	7	23		
NRG3	10718	broad.mit.edu	37	10	84738833	84738833	+	Missense_Mutation	SNP	G	G	A	rs564020344		TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr10:84738833G>A	ENST00000404547.1	+	8	1540	c.1540G>A	c.(1540-1542)Gaa>Aaa	p.E514K	NRG3_ENST00000545131.1_Missense_Mutation_p.E164K|NRG3_ENST00000372142.2_Missense_Mutation_p.E293K|NRG3_ENST00000372141.2_Missense_Mutation_p.E514K|NRG3_ENST00000404576.2_Missense_Mutation_p.E318K|NRG3_ENST00000537893.1_Missense_Mutation_p.E164K|NRG3_ENST00000556918.1_Missense_Mutation_p.E344K			P56975	NRG3_HUMAN	neuregulin 3	514					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.E514K(2)|p.E293K(2)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		TCAGCAACTCGAAGAATCAAG	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		18551	0.0		0.0	False		,,,				2504	0.001					uc001kco.2		NaN																	4	Substitution - Missense(4)		urinary_tract(2)|large_intestine(2)	lung(5)|breast(1)	6						c.(1540-1542)GAA>AAA		neuregulin 3 isoform 1							109.0	91.0	97.0					10																	84738833		2203	4300	6503	SO:0001583	missense	10718				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr10:84738833G>A	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.1540G>A	10.37:g.84738833G>A	ENSP00000384796:p.Glu514Lys					NRG3_uc010qlz.1_Missense_Mutation_p.E513K|NRG3_uc001kcp.2_Missense_Mutation_p.E293K|NRG3_uc001kcq.2_Missense_Mutation_p.E164K|NRG3_uc001kcr.2_Missense_Mutation_p.E164K	p.E514K	NM_001010848	NP_001010848	P56975	NRG3_HUMAN		GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)	8	1567	+			514			Cytoplasmic (Potential).		A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	ENST00000404547.1	37	c.1540G>A	CCDS31233.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768186	0.90020	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287;ENST00000372142;ENST00000404576;ENST00000556918;ENST00000545131;ENST00000537893	T;T;T;T;T;T;T	0.52295	1.44;1.27;1.28;0.67;0.67;0.67;0.67	5.79	5.79	0.91817	.	0.153130	0.44902	D	0.000403	T	0.64649	0.2617	L	0.50333	1.59	0.50313	D	0.999864	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.992;0.913;0.994;0.992	T	0.63875	-0.6538	10	0.59425	D	0.04	-0.0016	17.6117	0.88055	0.0:0.0:1.0:0.0	.	513;514;293;514	B9EGV5;P56975;P56975-3;P56975-4	.;NRG3_HUMAN;.;.	K	514;514;513;293;318;344;164;164	ENSP00000361214:E514K;ENSP00000384796:E514K;ENSP00000361215:E293K;ENSP00000385804:E318K;ENSP00000451376:E344K;ENSP00000441201:E164K;ENSP00000440377:E164K	ENSP00000361214:E514K	E	+	1	0	NRG3	84728813	0.998000	0.40836	0.960000	0.40013	0.761000	0.43186	2.977000	0.49297	2.759000	0.94783	0.558000	0.71614	GAA		0.493	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1		XM_166086		4	33	0	0	0	0.009096	0	4	33		
IFIT3	3437	broad.mit.edu	37	10	91099496	91099496	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr10:91099496C>T	ENST00000371818.4	+	2	1264	c.1084C>T	c.(1084-1086)Cag>Tag	p.Q362*	IFIT3_ENST00000371811.4_Nonsense_Mutation_p.Q362*|LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	362					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)	p.Q362*(1)		breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						ACAATCCCATCAGCGCTACTG	0.433																																						uc001kgf.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(1084-1086)CAG>TAG		interferon-induced protein with							78.0	74.0	76.0					10																	91099496		2203	4300	6503	SO:0001587	stop_gained	3437				type I interferon-mediated signaling pathway		protein binding	g.chr10:91099496C>T	U52513	CCDS7402.1, CCDS31241.1	10q23.31	2014-05-22	2004-07-16	2004-07-16	ENSG00000119917	ENSG00000119917		"""Tetratricopeptide (TTC) repeat domain containing"""	5411	protein-coding gene	gene with protein product		604650	"""interferon-induced protein with tetratricopeptide repeats 4"""	IFIT4		9828129, 9391139	Standard	NM_001031683		Approved	ISG60, RIG-G, CIG-49, IFI60, GARG-49, IRG2	uc001kgg.3	O14879	OTTHUMG00000018708	ENST00000371818.4:c.1084C>T	10.37:g.91099496C>T	ENSP00000360883:p.Gln362*					LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron|IFIT3_uc001kgg.2_Nonsense_Mutation_p.Q362*	p.Q362*	NM_001549	NP_001540	O14879	IFIT3_HUMAN			2	1313	+			362					Q99634|Q9BSK7	Nonsense_Mutation	SNP	ENST00000371818.4	37	c.1084C>T	CCDS7402.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.825229	0.71143	.	.	ENSG00000119917	ENST00000371818;ENST00000371811;ENST00000543062	.	.	.	4.48	2.43	0.29744	.	0.793468	0.12054	N	0.503796	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	0.0098	1.1166	0.01715	0.2585:0.389:0.1898:0.1627	.	.	.	.	X	362;362;183	.	ENSP00000360876:Q362X	Q	+	1	0	IFIT3	91089476	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.226000	0.09139	0.656000	0.30886	0.655000	0.94253	CAG		0.433	IFIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049294.1		NM_001549		39	51	0	0	0	0.027894	0	39	51		
CFAP58	159686	broad.mit.edu	37	10	106139898	106139898	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr10:106139898C>A	ENST00000369704.3	+	9	1419	c.1285C>A	c.(1285-1287)Cag>Aag	p.Q429K	CCDC147_ENST00000312902.5_Missense_Mutation_p.Q51K|CCDC147_ENST00000369703.1_Missense_Mutation_p.Q51K	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		429						extracellular space (GO:0005615)		p.Q429K(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GGATGAGGCTCAGAAGCAGAG	0.493																																						uc001kyh.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(1285-1287)CAG>AAG		coiled-coil domain containing 147							130.0	121.0	124.0					10																	106139898		2203	4300	6503	SO:0001583	missense	159686							g.chr10:106139898C>A																												ENST00000369704.3:c.1285C>A	10.37:g.106139898C>A	ENSP00000358718:p.Gln429Lys						p.Q429K	NM_001008723	NP_001008723	Q5T655	CC147_HUMAN		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)	9	1419	+		Colorectal(252;0.103)|Breast(234;0.122)	429			Potential.		D3DRA6|Q8NA27	Missense_Mutation	SNP	ENST00000369704.3	37	c.1285C>A	CCDS31282.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.101947	0.56183	.	.	ENSG00000120051	ENST00000369704;ENST00000312902;ENST00000369703	T	0.31769	1.48	5.31	5.31	0.75309	.	0.115086	0.64402	D	0.000007	T	0.25717	0.0626	L	0.41824	1.3	0.51012	D	0.999904	B	0.18741	0.03	B	0.18561	0.022	T	0.03673	-1.1014	10	0.36615	T	0.2	-25.2962	11.6017	0.51006	0.0:0.9177:0.0:0.0823	.	429	Q5T655	CC147_HUMAN	K	429;51;51	ENSP00000358718:Q429K	ENSP00000323620:Q51K	Q	+	1	0	CCDC147	106129888	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	5.974000	0.70465	2.485000	0.83878	0.557000	0.71058	CAG		0.493	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050216.1				12	59	1	0	3.27435e-08	0.020292	3.48125e-08	12	59		
TACC2	10579	broad.mit.edu	37	10	123847305	123847305	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr10:123847305C>T	ENST00000369005.1	+	4	5630	c.5290C>T	c.(5290-5292)Ctt>Ttt	p.L1764F	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.L1764F|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.L1764F|TACC2_ENST00000453444.2_Missense_Mutation_p.L1764F|TACC2_ENST00000515273.1_Missense_Mutation_p.L1764F	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1764					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)	p.L1764F(1)		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)				TACAGCTGCCCTTCATGGGGA	0.647																																						uc001lfv.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(5290-5292)CTT>TTT		transforming, acidic coiled-coil containing							30.0	29.0	29.0					10																	123847305		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123847305C>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.5290C>T	10.37:g.123847305C>T	ENSP00000358001:p.Leu1764Phe					TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Missense_Mutation_p.L1764F|TACC2_uc010qtv.1_Missense_Mutation_p.L1764F	p.L1764F	NM_206862	NP_996744	O95359	TACC2_HUMAN			4	5650	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	1764					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.5290C>T	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.693063	0.48202	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.05025	3.66;3.51;3.56;3.66;3.51	5.15	1.9	0.25705	.	1.176270	0.06765	N	0.782568	T	0.07818	0.0196	L	0.29908	0.895	0.09310	N	1	P;P;P	0.50943	0.94;0.94;0.94	P;P;P	0.48030	0.564;0.564;0.564	T	0.36529	-0.9744	10	0.66056	D	0.02	2.6025	5.3059	0.15803	0.0:0.6324:0.1654:0.2023	.	1764;1764;1764	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	F	1764;1764;1764;1764;1764;1754	ENSP00000358001:L1764F;ENSP00000424467:L1764F;ENSP00000427618:L1764F;ENSP00000334280:L1764F;ENSP00000395048:L1764F	ENSP00000334280:L1764F	L	+	1	0	TACC2	123837295	0.000000	0.05858	0.003000	0.11579	0.011000	0.07611	0.229000	0.17833	1.075000	0.40932	0.643000	0.83706	CTT		0.647	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1				4	8	0	0	0	0.009096	0	4	8		
C10orf120	399814	broad.mit.edu	37	10	124457887	124457887	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr10:124457887C>G	ENST00000329446.4	-	3	401	c.370G>C	c.(370-372)Gag>Cag	p.E124Q		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	124								p.E124Q(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				TTTTTATACTCCATTGCTTGT	0.438																																						uc001lgn.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	kidney(1)	1						c.(370-372)GAG>CAG		hypothetical protein LOC399814							171.0	178.0	176.0					10																	124457887		2203	4300	6503	SO:0001583	missense	399814							g.chr10:124457887C>G		CCDS31302.1	10q26.13	2012-06-12			ENSG00000183559	ENSG00000183559			25707	protein-coding gene	gene with protein product							Standard	NM_001010912		Approved	bA318C4.1	uc001lgn.3	Q5SQS8	OTTHUMG00000019187	ENST00000329446.4:c.370G>C	10.37:g.124457887C>G	ENSP00000331012:p.Glu124Gln						p.E124Q	NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN			3	402	-		all_neural(114;0.169)|Glioma(114;0.222)	124					B2RU17	Missense_Mutation	SNP	ENST00000329446.4	37	c.370G>C	CCDS31302.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.37|13.37	2.218190|2.218190	0.39201|0.39201	.|.	.|.	ENSG00000183559|ENSG00000183559	ENST00000329446|ENST00000432000	T|.	0.37584|.	1.19|.	4.82|4.82	1.93|1.93	0.25924|0.25924	.|.	0.552982|.	0.16287|.	N|.	0.221095|.	T|T	0.37758|0.37758	0.1015|0.1015	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	1|1	D|.	0.55385|.	0.971|.	P|.	0.58454|.	0.839|.	T|T	0.27571|0.27571	-1.0070|-1.0070	10|5	0.49607|.	T|.	0.09|.	-12.7121|-12.7121	4.6522|4.6522	0.12601|0.12601	0.0:0.6227:0.1822:0.1951|0.0:0.6227:0.1822:0.1951	.|.	124|.	Q5SQS8|.	CJ120_HUMAN|.	Q|C	124|116	ENSP00000331012:E124Q|.	ENSP00000331012:E124Q|.	E|W	-|-	1|3	0|0	C10orf120|C10orf120	124447877|124447877	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.006000|0.006000	0.05464|0.05464	-0.158000|-0.158000	0.10070|0.10070	0.323000|0.323000	0.23307|0.23307	0.603000|0.603000	0.83216|0.83216	GAG|TGG		0.438	C10orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050803.1		NM_001010912		121	165	0	0	0	0.01441	0	121	165		
FAM175B	23172	broad.mit.edu	37	10	126505169	126505169	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr10:126505169C>G	ENST00000298492.5	+	3	233	c.188C>G	c.(187-189)tCa>tGa	p.S63*	Y_RNA_ENST00000384763.1_RNA	NM_032182.3	NP_115558.3	Q15018	F175B_HUMAN	family with sequence similarity 175, member B	63	MPN-like.				cellular response to freezing (GO:0071497)	BRISC complex (GO:0070552)|cytoplasm (GO:0005737)	polyubiquitin binding (GO:0031593)	p.S63*(1)		NS(1)	1						CAGCCTTGTTCAAAACTTTTT	0.323																																						uc001lib.3		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)		0						c.(187-189)TCA>TGA		hypothetical protein LOC23172							100.0	95.0	96.0					10																	126505169		1812	4080	5892	SO:0001587	stop_gained	23172					BRISC complex	polyubiquitin binding	g.chr10:126505169C>G	D63877	CCDS31308.2	10q26.2	2013-01-24	2008-07-02	2008-07-02	ENSG00000165660	ENSG00000165660			28975	protein-coding gene	gene with protein product	"""Abraxas brother"""	611144	"""KIAA0157"""	KIAA0157		8590280	Standard	NM_032182		Approved	Em:AC068896.4, ABRO1	uc001lib.4	Q15018	OTTHUMG00000019218	ENST00000298492.5:c.188C>G	10.37:g.126505169C>G	ENSP00000298492:p.Ser63*						p.S63*	NM_032182	NP_115558	Q15018	F175B_HUMAN			3	233	+			63			MPN-like.		B4DKR2|Q96H11	Nonsense_Mutation	SNP	ENST00000298492.5	37	c.188C>G	CCDS31308.2	.	.	.	.	.	.	.	.	.	.	C	36	5.807881	0.96967	.	.	ENSG00000165660	ENST00000298492	.	.	.	5.61	5.61	0.85477	.	0.246105	0.35870	N	0.002940	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-25.3596	19.998	0.97395	0.0:1.0:0.0:0.0	.	.	.	.	X	63	.	ENSP00000298492:S63X	S	+	2	0	FAM175B	126495159	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.338000	0.79269	2.804000	0.96469	0.462000	0.41574	TCA		0.323	FAM175B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050891.2		NM_032182		31	49	0	0	0	0.013726	0	31	49		
TRIM34	53840	broad.mit.edu	37	11	5664543	5664543	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr11:5664543G>C	ENST00000514226.1	+	8	1408	c.1071G>C	c.(1069-1071)aaG>aaC	p.K357N	TRIM6-TRIM34_ENST00000457787.2_Missense_Mutation_p.K357N|HBG2_ENST00000380259.2_Intron|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.K711N|TRIM34_ENST00000429814.2_Missense_Mutation_p.K357N|TRIM34_ENST00000495668.1_3'UTR	NM_001003827.1	NP_001003827.1	Q9BYJ4	TRI34_HUMAN	tripartite motif containing 34	357	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.K357N(1)|p.K711N(1)		NS(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	17		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;5.72e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACGTGTCCAAGAAAACTGCCT	0.408																																						uc001mbf.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)	1						c.(2131-2133)AAG>AAC		tripartite motif-containing 6 and tripartite							79.0	76.0	77.0					11																	5664543		2201	4297	6498	SO:0001583	missense	445372					intracellular	zinc ion binding	g.chr11:5664543G>C	AB039902	CCDS31391.1	11p15	2013-01-09	2011-01-25	2001-11-23		ENSG00000258659		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10063	protein-coding gene	gene with protein product		605684	"""tripartite motif-containing 34"""	RNF21			Standard	NM_130390		Approved			Q9BYJ4	OTTHUMG00000066892	ENST00000514226.1:c.1071G>C	11.37:g.5664543G>C	ENSP00000422947:p.Lys357Asn					HBG2_uc001mak.1_Intron|TRIM34_uc001mbh.2_Missense_Mutation_p.K357N|TRIM34_uc009yeq.2_Missense_Mutation_p.K112N|TRIM34_uc001mbi.2_Missense_Mutation_p.K357N|TRIM78P_uc009yer.2_Intron	p.K711N	NM_001003819	NP_001003819	B2RNG4	B2RNG4_HUMAN		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)	14	2377	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	711					D3DQS7|Q9C016|Q9HCR0|Q9HCR1|Q9HCR2	Missense_Mutation	SNP	ENST00000514226.1	37	c.2133G>C	CCDS31391.1	.	.	.	.	.	.	.	.	.	.	G	0.809	-0.752765	0.03041	.	.	ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258588	ENST00000337072;ENST00000514226;ENST00000429814;ENST00000457787;ENST00000354852	T;T;T;T	0.60424	0.19;0.19;0.19;0.19	2.92	-3.05	0.05396	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.231123	0.22227	N	0.062880	T	0.29093	0.0723	N	0.21373	0.66	0.09310	N	0.999999	B;B	0.32968	0.02;0.392	B;B	0.33960	0.048;0.173	T	0.27054	-1.0085	10	0.13108	T	0.6	.	1.1166	0.01715	0.1937:0.3704:0.2489:0.187	.	357;711	Q9BYJ4;B2RNG4	TRI34_HUMAN;.	N	711;357;357;357;711	ENSP00000422947:K357N;ENSP00000402595:K357N;ENSP00000395982:K357N;ENSP00000346916:K711N	ENSP00000402595:K357N	K	+	3	2	TRIM34;TRIM6-TRIM34	5621119	0.001000	0.12720	0.001000	0.08648	0.388000	0.30384	-0.506000	0.06359	-0.652000	0.05408	-0.688000	0.03733	AAG		0.408	TRIM34-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143357.2		NM_001003827		22	12	0	0	0	0.016522	0	22	12		
PDE3B	5140	broad.mit.edu	37	11	14825541	14825541	+	Silent	SNP	G	G	A	rs569220462		TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr11:14825541G>A	ENST00000282096.4	+	5	1820	c.1467G>A	c.(1465-1467)ccG>ccA	p.P489P	PDE3B_ENST00000455098.2_Silent_p.P438P	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	489					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)	p.P489P(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	TGACTATCCCGAAGCAAAGGT	0.353													G|||	1	0.000199681	0.0	0.0	5008	,	,		16746	0.0		0.001	False		,,,				2504	0.0					uc001mln.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1465-1467)CCG>CCA		phosphodiesterase 3B							91.0	89.0	90.0					11																	14825541		2200	4294	6494	SO:0001819	synonymous_variant	5140				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding	g.chr11:14825541G>A	U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"""Phosphodiesterases"""	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.1467G>A	11.37:g.14825541G>A						PDE3B_uc010rcr.1_Silent_p.P438P	p.P489P	NM_000922	NP_000913	Q13370	PDE3B_HUMAN			5	1820	+			489					B7ZM37|O00639|Q14408|Q6SEI4	Silent	SNP	ENST00000282096.4	37	c.1467G>A	CCDS7817.1																																																																																				0.353	PDE3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386974.1		NM_000922		14	20	0	0	0	0.020292	0	14	20		
UEVLD	55293	broad.mit.edu	37	11	18586472	18586472	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr11:18586472G>A	ENST00000541984.1	-	4	341	c.279C>T	c.(277-279)ctC>ctT	p.L93L	UEVLD_ENST00000379387.4_Silent_p.L171L|UEVLD_ENST00000396197.3_Silent_p.L193L|UEVLD_ENST00000300038.7_Silent_p.L193L|UEVLD_ENST00000543987.1_Silent_p.L193L|UEVLD_ENST00000540666.1_5'UTR|UEVLD_ENST00000535484.1_Silent_p.L155L|UEVLD_ENST00000320750.6_Silent_p.L171L	NM_001261386.1	NP_001248315.1			UEV and lactate/malate dehyrogenase domains									p.L193L(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						AGGCAATACCGAGTTCTCCAC	0.373																																						uc001mot.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)		0						c.(577-579)CTC>CTT		ubiquitin-conjugating enzyme E2-like isoform a							170.0	148.0	155.0					11																	18586472		2199	4293	6492	SO:0001819	synonymous_variant	55293				cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	g.chr11:18586472G>A	AF503350	CCDS7843.1, CCDS41624.1, CCDS58122.1, CCDS58123.1, CCDS58124.1, CCDS58125.1, CCDS73266.1	11p15.1	2006-07-14			ENSG00000151116	ENSG00000151116			30866	protein-coding gene	gene with protein product		610985				12427560	Standard	NM_001040697		Approved	Attp, UEV3	uc001mot.4	Q8IX04	OTTHUMG00000167729	ENST00000541984.1:c.279C>T	11.37:g.18586472G>A						UEVLD_uc001mou.2_Silent_p.L193L|UEVLD_uc010rde.1_Silent_p.L63L|UEVLD_uc010rdf.1_Silent_p.L171L|UEVLD_uc010rdg.1_Silent_p.L63L|UEVLD_uc001mov.2_Silent_p.L171L|UEVLD_uc010rdh.1_Silent_p.L193L	p.L193L	NM_001040697	NP_001035787	Q8IX04	UEVLD_HUMAN			6	659	-			193			NAD (By similarity).			Silent	SNP	ENST00000541984.1	37	c.579C>T	CCDS58125.1																																																																																				0.373	UEVLD-015	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000395928.1		NM_018314		17	11	0	0	0	0.00499	0	17	11		
CAT	847	broad.mit.edu	37	11	34492549	34492549	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr11:34492549C>G	ENST00000241052.4	+	12	1568	c.1479C>G	c.(1477-1479)atC>atG	p.I493M	CAT_ENST00000534710.1_3'UTR	NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	493					aerobic respiration (GO:0009060)|cellular response to growth factor stimulus (GO:0071363)|cholesterol metabolic process (GO:0008203)|hemoglobin metabolic process (GO:0020027)|hydrogen peroxide catabolic process (GO:0042744)|menopause (GO:0042697)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleobase-containing small molecule metabolic process (GO:0055086)|osteoblast differentiation (GO:0001649)|positive regulation of cell division (GO:0051781)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to reactive oxygen species (GO:0000302)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)|ureteric bud development (GO:0001657)|UV protection (GO:0009650)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	aminoacylase activity (GO:0004046)|antioxidant activity (GO:0016209)|catalase activity (GO:0004096)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.I493M(1)		breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	GGAGCCACATCCAGGCTCTTC	0.507																																						uc001mvm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|pancreas(1)	3						c.(1477-1479)ATC>ATG		catalase	Fomepizole(DB01213)						147.0	144.0	145.0					11																	34492549		2202	4298	6500	SO:0001583	missense	847				hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity	g.chr11:34492549C>G	AY028632	CCDS7891.1	11p13	2012-10-02			ENSG00000121691	ENSG00000121691	1.11.1.6		1516	protein-coding gene	gene with protein product		115500					Standard	NM_001752		Approved		uc001mvm.3	P04040	OTTHUMG00000044353	ENST00000241052.4:c.1479C>G	11.37:g.34492549C>G	ENSP00000241052:p.Ile493Met					CAT_uc001mvn.2_Missense_Mutation_p.I102M	p.I493M	NM_001752	NP_001743	P04040	CATA_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000995)	12	1562	+		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)	493					A8K6C0|B2RCZ9|D3DR07|Q2M1U4|Q4VXX5|Q9BWT9|Q9UC85	Missense_Mutation	SNP	ENST00000241052.4	37	c.1479C>G	CCDS7891.1	.	.	.	.	.	.	.	.	.	.	C	8.400	0.841795	0.16963	.	.	ENSG00000121691	ENST00000241052	D	0.92545	-3.06	5.9	1.51	0.23008	Catalase domain (1);Catalase-related immune responsive (1);	0.205916	0.51477	D	0.000087	D	0.93671	0.7978	M	0.78285	2.405	0.50313	D	0.999863	B	0.31705	0.336	P	0.52514	0.701	D	0.90389	0.4394	10	0.87932	D	0	-12.9224	3.0581	0.06190	0.3059:0.3479:0.0:0.3462	.	493	P04040	CATA_HUMAN	M	493	ENSP00000241052:I493M	ENSP00000241052:I493M	I	+	3	3	CAT	34449125	0.823000	0.29233	0.982000	0.44146	0.027000	0.11550	-0.160000	0.10041	0.263000	0.21812	0.556000	0.70494	ATC		0.507	CAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103197.2		NM_001752		67	57	0	0	0	0.01441	0	67	57		
OR9Q2	219957	broad.mit.edu	37	11	57958523	57958523	+	Silent	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr11:57958523C>G	ENST00000311591.3	+	1	618	c.561C>G	c.(559-561)ctC>ctG	p.L187L		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	187						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L187L(1)		breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				TATTAAAACTCTCCTGTGGGG	0.448																																						uc010rka.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|breast(1)|central_nervous_system(1)	4						c.(559-561)CTC>CTG		olfactory receptor, family 9, subfamily Q,							125.0	128.0	127.0					11																	57958523		2201	4296	6497	SO:0001819	synonymous_variant	219957				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57958523C>G	AB065859	CCDS31544.1	11q12.1	2012-08-09		2004-03-10	ENSG00000186513	ENSG00000186513		"""GPCR / Class A : Olfactory receptors"""	15328	protein-coding gene	gene with protein product				OR9Q2P			Standard	NM_001005283		Approved		uc010rka.2	Q8NGE9	OTTHUMG00000167414	ENST00000311591.3:c.561C>G	11.37:g.57958523C>G							p.L187L	NM_001005283	NP_001005283	Q8NGE9	OR9Q2_HUMAN			1	561	+		Breast(21;0.0589)	187			Extracellular (Potential).			Silent	SNP	ENST00000311591.3	37	c.561C>G	CCDS31544.1																																																																																				0.448	OR9Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394540.1		NM_001005283		12	31	0	0	0	0.013537	0	12	31		
OR5B2	390190	broad.mit.edu	37	11	58189810	58189810	+	Silent	SNP	G	G	A	rs373422198		TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr11:58189810G>A	ENST00000302581.2	-	1	976	c.925C>T	c.(925-927)Cta>Tta	p.L309L		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	309						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L309L(1)		NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CAAACTTATAGAAATTTTTGC	0.383																																						uc010rkg.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)	3						c.(925-927)CTA>TTA		olfactory receptor, family 5, subfamily B,							43.0	44.0	43.0					11																	58189810		2201	4294	6495	SO:0001819	synonymous_variant	390190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58189810G>A	AB065852	CCDS31550.1	11q12.1	2012-08-09			ENSG00000172365	ENSG00000172365		"""GPCR / Class A : Olfactory receptors"""	8323	protein-coding gene	gene with protein product							Standard	NM_001005566		Approved	OST073	uc010rkg.2	Q96R09	OTTHUMG00000167517	ENST00000302581.2:c.925C>T	11.37:g.58189810G>A							p.L309L	NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN			1	925	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	309			Cytoplasmic (Potential).		B2RNJ6|B9EGY7|Q6IEV7|Q8NGF5	Silent	SNP	ENST00000302581.2	37	c.925C>T	CCDS31550.1																																																																																				0.383	OR5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394887.2		NM_001005566		21	32	0	0	0	0.010504	0	21	32		
CCDC86	79080	broad.mit.edu	37	11	60609623	60609623	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr11:60609623G>A	ENST00000227520.5	+	1	80	c.26G>A	c.(25-27)cGa>cAa	p.R9Q	RP11-804A23.4_ENST00000538705.1_RNA|RP11-804A23.2_ENST00000539897.1_RNA	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	9					viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R9Q(1)		endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						AGGCGCAGCCGACGGCTGGGA	0.637																																						uc001nqa.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(25-27)CGA>CAA		coiled-coil domain containing 86							14.0	15.0	15.0					11																	60609623		2185	4267	6452	SO:0001583	missense	79080				interspecies interaction between organisms	nucleus		g.chr11:60609623G>A	AK025974	CCDS7993.1	11q12.2	2006-03-16			ENSG00000110104	ENSG00000110104			28359	protein-coding gene	gene with protein product		611293					Standard	NM_024098		Approved	MGC2574	uc001nqa.2	Q9H6F5	OTTHUMG00000167706	ENST00000227520.5:c.26G>A	11.37:g.60609623G>A	ENSP00000227520:p.Arg9Gln					CCDC86_uc001nqb.2_5'UTR	p.R9Q	NM_024098	NP_077003	Q9H6F5	CCD86_HUMAN			1	195	+			9					B4DY99	Missense_Mutation	SNP	ENST00000227520.5	37	c.26G>A	CCDS7993.1	.	.	.	.	.	.	.	.	.	.	G	34	5.341867	0.95783	.	.	ENSG00000110104	ENST00000227520;ENST00000339492	T	0.66995	-0.24	4.8	4.8	0.61643	.	0.185714	0.27023	N	0.021311	T	0.77980	0.4212	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.77485	-0.2570	10	0.45353	T	0.12	-16.9935	13.2226	0.59896	0.0:0.0:1.0:0.0	.	9	Q9H6F5	CCD86_HUMAN	Q	9	ENSP00000227520:R9Q	ENSP00000227520:R9Q	R	+	2	0	CCDC86	60366199	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	3.971000	0.56831	2.501000	0.84356	0.561000	0.74099	CGA		0.637	CCDC86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395743.1		NM_024098		3	19	0	0	0	0.009096	0	3	19		
SLC22A10	387775	broad.mit.edu	37	11	63066993	63066993	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr11:63066993G>A	ENST00000332793.6	+	6	964	c.962G>A	c.(961-963)aGa>aAa	p.R321K	SLC22A10_ENST00000535888.1_Missense_Mutation_p.R111K|SLC22A10_ENST00000525620.1_3'UTR|SLC22A10_ENST00000526800.1_Missense_Mutation_p.R161K|SLC22A10_ENST00000544661.1_Missense_Mutation_p.R166K	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	321						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)	p.R321K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28					Conjugated Estrogens(DB00286)|Probenecid(DB01032)|Salicylic acid(DB00936)	AAGGTTGTAAGATCCACCATG	0.423																																						uc009yor.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(961-963)AGA>AAA		solute carrier family 22, member 10							112.0	110.0	111.0					11																	63066993		1990	4163	6153	SO:0001583	missense	387775					integral to membrane	transmembrane transporter activity	g.chr11:63066993G>A	AP003420	CCDS41661.1	11q12.3	2013-05-22	2008-01-11		ENSG00000184999	ENSG00000184999		"""Solute carriers"""	18057	protein-coding gene	gene with protein product		607580	"""solute carrier family 22 (organic anion/cation transporter), member 10"""			11327718	Standard	NM_001039752		Approved	OAT5, hOAT5	uc009yor.3	Q63ZE4	OTTHUMG00000165197	ENST00000332793.6:c.962G>A	11.37:g.63066993G>A	ENSP00000327569:p.Arg321Lys					SLC22A10_uc010rmo.1_RNA|SLC22A10_uc001nwu.3_RNA|SLC22A10_uc010rmp.1_Missense_Mutation_p.R161K	p.R321K	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN			6	1170	+			321			Extracellular (Potential).		Q68CJ0	Missense_Mutation	SNP	ENST00000332793.6	37	c.962G>A	CCDS41661.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.409370	0.25378	.	.	ENSG00000184999	ENST00000535888;ENST00000544661;ENST00000332793;ENST00000526800	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.05	4.46	1.48	0.22813	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	.	.	.	.	T	0.50854	0.1640	N	0.25245	0.725	0.09310	N	1	B;B	0.23128	0.051;0.08	B;B	0.32342	0.144;0.074	T	0.38950	-0.9637	9	0.08837	T	0.75	.	4.1786	0.10363	0.2865:0.1716:0.5419:0.0	.	161;321	E9PJB1;Q63ZE4	.;S22AA_HUMAN	K	111;166;321;161	ENSP00000444602:R111K;ENSP00000445667:R166K;ENSP00000327569:R321K;ENSP00000433908:R161K	ENSP00000327569:R321K	R	+	2	0	SLC22A10	62823569	0.004000	0.15560	0.001000	0.08648	0.278000	0.26855	-0.128000	0.10531	0.152000	0.19188	0.579000	0.79373	AGA		0.423	SLC22A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382622.3		NM_001039752		10	22	0	0	0	0.010729	0	10	22		
KLC2	64837	broad.mit.edu	37	11	66030506	66030506	+	Splice_Site	SNP	C	C	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr11:66030506C>A	ENST00000417856.1	+	5	994	c.751C>A	c.(751-753)Cgg>Agg	p.R251R	KLC2_ENST00000394066.2_Splice_Site_p.R174R|KLC2_ENST00000394078.1_Splice_Site_p.R251R|KLC2_ENST00000394067.2_Splice_Site_p.R251R|KLC2_ENST00000394065.2_Splice_Site_p.R112R|KLC2_ENST00000316924.5_Splice_Site_p.R251R|RP11-867G23.1_ENST00000530805.1_RNA|RP11-755F10.3_ENST00000533576.1_RNA|KLC2_ENST00000421552.1_Splice_Site_p.R174R	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2	251					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon cargo transport (GO:0008088)|blood coagulation (GO:0007596)|microtubule-based movement (GO:0007018)	ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinesin I complex (GO:0016938)|membrane (GO:0016020)|microtubule (GO:0005874)|neuron projection (GO:0043005)|protein complex (GO:0043234)	kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)	p.R251R(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						ACTGGTCTATCGGTGAGGACT	0.602																																						uc010rov.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(751-753)CGG>AGG		kinesin light chain 2 isoform 1							56.0	46.0	49.0					11																	66030506		2200	4295	6495	SO:0001630	splice_region_variant	64837				blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding	g.chr11:66030506C>A	AK022449	CCDS8130.1, CCDS44653.1	11q13.1	2013-01-10			ENSG00000174996	ENSG00000174996		"""Tetratricopeptide (TTC) repeat domain containing"""	20716	protein-coding gene	gene with protein product		611729				9624122	Standard	NM_022822		Approved	FLJ12387	uc001ohb.2	Q9H0B6	OTTHUMG00000133757	ENST00000417856.1:c.752+1C>A	11.37:g.66030506C>A						KLC2_uc010row.1_Silent_p.R251R|KLC2_uc009yra.2_Silent_p.R251R|KLC2_uc001ohb.2_Silent_p.R251R|KLC2_uc010rox.1_Silent_p.R174R|KLC2_uc001ohc.2_Silent_p.R251R|KLC2_uc001ohd.2_Silent_p.R174R|KLC2_uc001ohe.1_Silent_p.R112R	p.R251R	NM_001134775	NP_001128247	Q9H0B6	KLC2_HUMAN			5	994	+			251			TPR 2.		A8MXL7|B2RDY4|Q9H9C8|Q9HA20	Silent	SNP	ENST00000417856.1	37	c.751C>A	CCDS8130.1																																																																																				0.602	KLC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258200.1		NM_022822	Silent	7	21	1	0	2.7689e-08	0.001984	2.95196e-08	7	21		
CD248	57124	broad.mit.edu	37	11	66082600	66082600	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr11:66082600G>A	ENST00000311330.3	-	1	1915	c.1899C>T	c.(1897-1899)atC>atT	p.I633I	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	633	Pro-rich.				anatomical structure regression (GO:0060033)|cell migration (GO:0016477)|lymph node development (GO:0048535)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|extracellular matrix binding (GO:0050840)	p.I633I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						GTGTAGGGCTGATGGGTGAGG	0.632																																						uc001ohm.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	large_intestine(3)	3						c.(1897-1899)ATC>ATT		tumor endothelial marker 1 precursor	Cefalotin(DB00456)						39.0	46.0	44.0					11																	66082600		2200	4295	6495	SO:0001819	synonymous_variant	57124					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding	g.chr11:66082600G>A	AF279142	CCDS8134.1	11q13	2006-04-12	2006-03-28	2005-02-11	ENSG00000174807	ENSG00000174807		"""CD molecules"""	18219	protein-coding gene	gene with protein product	"""endosialin"", ""tumor endothelial marker 1"""	606064	"""CD164 sialomucin-like 1"", ""CD248 antigen, endosialin"""	CD164L1		10947988, 11084048	Standard	NM_020404		Approved	TEM1	uc001ohm.1	Q9HCU0	OTTHUMG00000167073	ENST00000311330.3:c.1899C>T	11.37:g.66082600G>A							p.I633I	NM_020404	NP_065137	Q9HCU0	CD248_HUMAN			1	1916	-			633			Pro-rich.|Extracellular (Potential).		Q2M2V5|Q3SX55|Q96KB6	Silent	SNP	ENST00000311330.3	37	c.1899C>T	CCDS8134.1																																																																																				0.632	CD248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392922.2		NM_020404		24	42	0	0	0	0.016522	0	24	42		
SYT12	91683	broad.mit.edu	37	11	66816082	66816082	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr11:66816082G>A	ENST00000393946.2	+	11	2282	c.1120G>A	c.(1120-1122)Gag>Aag	p.E374K	SYT12_ENST00000527043.1_Missense_Mutation_p.E374K|SYT12_ENST00000525457.1_Missense_Mutation_p.E374K			Q8IV01	SYT12_HUMAN	synaptotagmin XII	374	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|synapse (GO:0045202)		p.E374K(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						GACGGTGGCTGAGAGCAGCAG	0.607																																					Ovarian(65;2862 3307)	uc009yrl.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1120-1122)GAG>AAG		synaptotagmin XII							88.0	72.0	77.0					11																	66816082		2200	4295	6495	SO:0001583	missense	91683					cell junction|integral to membrane|synaptic vesicle membrane		g.chr11:66816082G>A	AK024280	CCDS8154.1	11q13.2	2014-07-02			ENSG00000173227	ENSG00000173227		"""Synaptotagmins"""	18381	protein-coding gene	gene with protein product		606436				8987811	Standard	NM_177963		Approved	SRG1	uc001oju.3	Q8IV01	OTTHUMG00000167101	ENST00000393946.2:c.1120G>A	11.37:g.66816082G>A	ENSP00000377520:p.Glu374Lys					SYT12_uc001oju.2_Missense_Mutation_p.E374K	p.E374K	NM_177963	NP_808878	Q8IV01	SYT12_HUMAN			8	1350	+			374			C2 2.|Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000393946.2	37	c.1120G>A	CCDS8154.1	.	.	.	.	.	.	.	.	.	.	G	34	5.302504	0.95601	.	.	ENSG00000173227	ENST00000393946;ENST00000525457;ENST00000527043	T;T;T	0.08102	3.13;3.13;3.13	4.59	4.59	0.56863	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.26521	0.0648	M	0.67953	2.075	0.80722	D	1	D	0.67145	0.996	D	0.69824	0.966	T	0.01205	-1.1419	10	0.87932	D	0	.	15.2877	0.73843	0.0:0.0:1.0:0.0	.	374	Q8IV01	SYT12_HUMAN	K	374	ENSP00000377520:E374K;ENSP00000431400:E374K;ENSP00000435316:E374K	ENSP00000377520:E374K	E	+	1	0	SYT12	66572658	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.713000	0.98740	2.270000	0.75569	0.462000	0.41574	GAG		0.607	SYT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393129.1		NM_177963		18	40	0	0	0	0.010504	0	18	40		
KDM2A	22992	broad.mit.edu	37	11	67021049	67021049	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr11:67021049C>T	ENST00000529006.2	+	19	3504	c.3058C>T	c.(3058-3060)Cgg>Tgg	p.R1020W	KDM2A_ENST00000398645.2_3'UTR|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000530342.1_Missense_Mutation_p.R581W|KDM2A_ENST00000308783.5_Missense_Mutation_p.R478W	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	1020					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.R1020W(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						CCCTCAAATTCGGGACTTGCT	0.552																																						uc001ojw.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|lung(3)|breast(1)|skin(1)	9						c.(3058-3060)CGG>TGG		F-box and leucine-rich repeat protein 11							98.0	98.0	98.0					11																	67021049		1976	4138	6114	SO:0001583	missense	22992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr11:67021049C>T	BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.3058C>T	11.37:g.67021049C>T	ENSP00000432786:p.Arg1020Trp					KDM2A_uc001ojx.2_RNA|KDM2A_uc001ojy.2_Missense_Mutation_p.R714W|KDM2A_uc001ojz.1_Missense_Mutation_p.R478W|KDM2A_uc001oka.2_Missense_Mutation_p.R144W	p.R1020W	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN			19	3922	+			1020					D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Missense_Mutation	SNP	ENST00000529006.2	37	c.3058C>T	CCDS44657.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.134723	0.77662	.	.	ENSG00000173120	ENST00000529006;ENST00000530342;ENST00000308783	T;T;T	0.37752	1.18;1.18;1.18	4.98	4.98	0.66077	.	0.058875	0.64402	D	0.000003	T	0.63022	0.2476	M	0.86953	2.85	0.58432	D	0.999999	D;D;D	0.89917	0.98;1.0;1.0	B;D;D	0.69654	0.425;0.965;0.924	T	0.69435	-0.5146	10	0.87932	D	0	-12.9643	13.4213	0.60998	0.1568:0.8432:0.0:0.0	.	581;478;1020	E9PIL6;D4QA03;Q9Y2K7	.;.;KDM2A_HUMAN	W	1020;581;478	ENSP00000432786:R1020W;ENSP00000435776:R581W;ENSP00000309302:R478W	ENSP00000309302:R478W	R	+	1	2	KDM2A	66777625	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.017000	0.49615	2.580000	0.87095	0.650000	0.86243	CGG		0.552	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2		NM_012308		59	76	0	0	0	0.01441	0	59	76		
NUMA1	4926	broad.mit.edu	37	11	71719867	71719867	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr11:71719867G>A	ENST00000393695.3	-	20	5414	c.5083C>T	c.(5083-5085)Cga>Tga	p.R1695*	NUMA1_ENST00000351960.6_Nonsense_Mutation_p.R559*|NUMA1_ENST00000358965.6_Nonsense_Mutation_p.R1681*	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1									p.R1695*(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CCCAGGTCTCGAAGCTGCTGG	0.582			T	RARA	APL																																	uc001orl.1		NaN		Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						c.(5083-5085)CGA>TGA		nuclear mitotic apparatus protein 1							69.0	73.0	72.0					11																	71719867		2200	4293	6493	SO:0001587	stop_gained	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71719867G>A	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.5083C>T	11.37:g.71719867G>A	ENSP00000377298:p.Arg1695*					NUMA1_uc001orj.2_5'UTR|NUMA1_uc009ysw.1_Nonsense_Mutation_p.R1244*|NUMA1_uc001ork.1_Nonsense_Mutation_p.R559*|NUMA1_uc001orm.1_Nonsense_Mutation_p.R1681*|NUMA1_uc001orn.2_Nonsense_Mutation_p.R1258*	p.R1695*	NM_006185	NP_006176	Q14980	NUMA1_HUMAN			20	5255	-			1695			Potential.			Nonsense_Mutation	SNP	ENST00000393695.3	37	c.5083C>T	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	G	47	13.517190	0.99747	.	.	ENSG00000137497	ENST00000351960;ENST00000358965;ENST00000393695;ENST00000359652;ENST00000536544	.	.	.	4.74	4.74	0.60224	.	0.000000	0.43110	D	0.000601	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.8772	0.88828	0.0:0.0:1.0:0.0	.	.	.	.	X	559;1681;1695;1244;650	.	ENSP00000260051:R559X	R	-	1	2	NUMA1	71397515	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.707000	0.74654	2.618000	0.88619	0.561000	0.74099	CGA		0.582	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1				17	80	0	0	0	0.028581	0	17	80		
NUMA1	4926	broad.mit.edu	37	11	71728852	71728852	+	Silent	SNP	G	G	A	rs200581089		TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr11:71728852G>A	ENST00000393695.3	-	13	1331	c.1000C>T	c.(1000-1002)Ctg>Ttg	p.L334L	RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Silent_p.L334L|NUMA1_ENST00000358965.6_Silent_p.L334L	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1									p.L334L(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						AGCTGCTGCAGATGACTGGCA	0.602			T	RARA	APL																																	uc001orl.1		NaN		Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						c.(1000-1002)CTG>TTG		nuclear mitotic apparatus protein 1							75.0	66.0	69.0					11																	71728852		2200	4293	6493	SO:0001819	synonymous_variant	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71728852G>A	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.1000C>T	11.37:g.71728852G>A						NUMA1_uc009ysw.1_5'Flank|NUMA1_uc001ork.1_Silent_p.L334L|NUMA1_uc001orm.1_Silent_p.L334L|NUMA1_uc001orn.2_5'Flank|NUMA1_uc009ysx.1_Silent_p.L334L|NUMA1_uc001oro.1_Silent_p.L334L|NUMA1_uc009ysy.1_Silent_p.L334L|NUMA1_uc001orp.2_Silent_p.L334L|NUMA1_uc001orq.2_Silent_p.L334L	p.L334L	NM_006185	NP_006176	Q14980	NUMA1_HUMAN			13	1172	-			334			Potential.			Silent	SNP	ENST00000393695.3	37	c.1000C>T	CCDS31633.1																																																																																				0.602	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1				16	28	0	0	0	0.028581	0	16	28		
MAP6	4135	broad.mit.edu	37	11	75298211	75298211	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr11:75298211G>C	ENST00000304771.3	-	4	3085	c.2335C>G	c.(2335-2337)Ctg>Gtg	p.L779V	MAP6_ENST00000526689.1_5'Flank|MAP6_ENST00000526740.1_Missense_Mutation_p.L450V|CTD-2530H12.4_ENST00000527803.1_RNA	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	779	Pro-rich.				dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|microtubule cytoskeleton organization (GO:0000226)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)		p.L779V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					TGAGTCTTCAGAGGTTCAGGG	0.532																																					Esophageal Squamous(181;1115 2007 8647 17065 22697)	uc001owu.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(2335-2337)CTG>GTG		microtubule-associated protein 6 isoform 1							95.0	89.0	91.0					11																	75298211		2200	4293	6493	SO:0001583	missense	4135					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding	g.chr11:75298211G>C	AK123340	CCDS31641.1, CCDS44686.1	11q13.5	2005-10-11			ENSG00000171533	ENSG00000171533			6868	protein-coding gene	gene with protein product		601783				10516426, 12231625	Standard	NM_207577		Approved	KIAA1878, STOP, FLJ41346	uc001owu.3	Q96JE9	OTTHUMG00000165343	ENST00000304771.3:c.2335C>G	11.37:g.75298211G>C	ENSP00000307093:p.Leu779Val						p.L779V	NM_033063	NP_149052	Q96JE9	MAP6_HUMAN			4	2400	-	Ovarian(111;0.11)		779			Pro-rich.		A7E2A1|Q6P3T0|Q6ZWB8	Missense_Mutation	SNP	ENST00000304771.3	37	c.2335C>G	CCDS31641.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.820459	0.50633	.	.	ENSG00000171533	ENST00000304771;ENST00000526740;ENST00000545476	T	0.60672	0.17	5.11	3.23	0.37069	.	0.000000	0.38897	N	0.001532	T	0.32793	0.0841	N	0.19112	0.55	0.80722	D	1	P	0.38597	0.639	B	0.37198	0.243	T	0.32508	-0.9904	10	0.02654	T	1	-11.7988	7.3559	0.26719	0.2733:0.0:0.7267:0.0	.	779	Q96JE9	MAP6_HUMAN	V	779;450;450	ENSP00000307093:L779V	ENSP00000307093:L779V	L	-	1	2	MAP6	74975859	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	0.723000	0.25939	0.827000	0.34685	0.655000	0.94253	CTG		0.532	MAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383527.1		NM_033063		37	55	0	0	0	0.021022	0	37	55		
MYO7A	4647	broad.mit.edu	37	11	76873170	76873170	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr11:76873170G>C	ENST00000409709.3	+	13	1620	c.1348G>C	c.(1348-1350)Gag>Cag	p.E450Q	MYO7A_ENST00000409893.1_Missense_Mutation_p.E450Q|MYO7A_ENST00000458637.2_Missense_Mutation_p.E450Q|MYO7A_ENST00000409619.2_Missense_Mutation_p.E439Q	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	450	Myosin motor.		E -> Q (in USH1B). {ECO:0000269|PubMed:8900236}.		actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)	p.E450Q(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CTGCAGCTTTGAGCAGCTCTG	0.572																																						uc001oyb.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|breast(1)	4	GRCh37	CM961013	MYO7A	M		c.(1348-1350)GAG>CAG		myosin VIIA isoform 1							59.0	59.0	59.0					11																	76873170		2196	4288	6484	SO:0001583	missense	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76873170G>C	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.1348G>C	11.37:g.76873170G>C	ENSP00000386331:p.Glu450Gln					MYO7A_uc010rsl.1_Missense_Mutation_p.E450Q|MYO7A_uc010rsm.1_Missense_Mutation_p.E439Q|MYO7A_uc001oyc.2_Missense_Mutation_p.E450Q	p.E450Q	NM_000260	NP_000251	Q13402	MYO7A_HUMAN			13	1620	+			450		E -> Q (in USH1B).	Myosin head-like.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	c.1348G>C	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.128222	0.77549	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000343419	D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98	5.15	5.15	0.70609	Myosin head, motor domain (3);	0.148435	0.44285	D	0.000474	D	0.97670	0.9236	H	0.97516	4.02	0.58432	D	0.999998	D;D;D	0.67145	0.996;0.986;0.98	D;P;D	0.74348	0.983;0.858;0.928	D	0.99239	1.0884	10	0.87932	D	0	.	18.6259	0.91338	0.0:0.0:1.0:0.0	.	450;450;450	B9A012;F8VUN5;Q13402	.;.;MYO7A_HUMAN	Q	450;450;450;439;449;449;372;449	ENSP00000386331:E450Q;ENSP00000386689:E450Q;ENSP00000392185:E450Q;ENSP00000386635:E439Q	ENSP00000345075:E372Q	E	+	1	0	MYO7A	76550818	1.000000	0.71417	0.995000	0.50966	0.897000	0.52465	9.869000	0.99810	2.420000	0.82092	0.491000	0.48974	GAG		0.572	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1		NM_000260		3	5	0	0	0	0.004672	0	3	5		
DLG2	1740	broad.mit.edu	37	11	83770465	83770465	+	Missense_Mutation	SNP	G	G	T	rs146925269		TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr11:83770465G>T	ENST00000532653.1	-	6	799	c.497C>A	c.(496-498)gCg>gAg	p.A166E	DLG2_ENST00000330014.6_Missense_Mutation_p.A105E|DLG2_ENST00000398301.2_Missense_Mutation_p.A205E|DLG2_ENST00000531015.1_Missense_Mutation_p.A133E|DLG2_ENST00000418306.2_Missense_Mutation_p.A115E|DLG2_ENST00000398309.2_Missense_Mutation_p.A166E|DLG2_ENST00000537455.1_5'UTR|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000376104.2_Missense_Mutation_p.A271E|DLG2_ENST00000524982.1_Missense_Mutation_p.A166E|DLG2_ENST00000543673.1_Missense_Mutation_p.A271E|DLG2_ENST00000280241.8_Missense_Mutation_p.A205E			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)	p.A205E(1)|p.A115E(1)|p.A271E(1)|p.A166E(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GGCTTCCACCGCTTTACTGTG	0.478																																						uc001paj.2		NaN																	4	Substitution - Missense(4)		urinary_tract(4)	ovary(3)|pancreas(2)|skin(1)	6						c.(496-498)GCG>GAG		chapsyn-110 isoform 2							98.0	90.0	92.0					11																	83770465		1919	4153	6072	SO:0001583	missense	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding	g.chr11:83770465G>T	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.497C>A	11.37:g.83770465G>T	ENSP00000435849:p.Ala166Glu					DLG2_uc001pai.2_Missense_Mutation_p.A115E|DLG2_uc010rsy.1_Missense_Mutation_p.A133E|DLG2_uc010rsz.1_Missense_Mutation_p.A166E|DLG2_uc010rta.1_Missense_Mutation_p.A166E|DLG2_uc001pak.2_Missense_Mutation_p.A271E|DLG2_uc010rtb.1_Missense_Mutation_p.A133E|DLG2_uc001pal.1_Missense_Mutation_p.A166E|DLG2_uc001pam.1_Missense_Mutation_p.A205E	p.A166E	NM_001364	NP_001355	Q15700	DLG2_HUMAN			6	800	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	166			PDZ 1.		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000532653.1	37	c.497C>A		.	.	.	.	.	.	.	.	.	.	G	33	5.207566	0.95033	.	.	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000418306;ENST00000543673;ENST00000280241;ENST00000330014;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015;ENST00000398301;ENST00000398299	T;T;T;T;T;T;T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88	5.17	5.17	0.71159	PDZ/DHR/GLGF (4);	0.000000	0.64402	D	0.000004	T	0.70448	0.3225	H	0.98936	4.375	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.84294	0.0501	9	.	.	.	.	18.6643	0.91483	0.0:0.0:1.0:0.0	.	133;166;166;105;205;271;166;115	E9PIW2;B7Z2T4;E9PN83;B7Z264;Q6ZSU2;Q15700-2;Q15700;Q15700-3	.;.;.;.;.;.;DLG2_HUMAN;.	E	166;271;115;271;205;105;166;166;271;133;205;83	ENSP00000381355:A166E;ENSP00000365272:A271E;ENSP00000402275:A115E;ENSP00000441994:A271E;ENSP00000280241:A205E;ENSP00000381353:A105E;ENSP00000432894:A166E;ENSP00000435849:A166E;ENSP00000433848:A133E;ENSP00000381346:A205E;ENSP00000381344:A83E	.	A	-	2	0	DLG2	83448113	1.000000	0.71417	0.955000	0.39395	0.960000	0.62799	9.476000	0.97823	2.420000	0.82092	0.460000	0.39030	GCG		0.478	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2		NM_001364		5	43	1	0	0.000602214	0.014758	0.000618188	5	43		
ZC3H12C	85463	broad.mit.edu	37	11	110035800	110035800	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr11:110035800C>A	ENST00000278590.3	+	6	2041	c.1990C>A	c.(1990-1992)Cac>Aac	p.H664N	ZC3H12C_ENST00000528673.1_Missense_Mutation_p.H665N|ZC3H12C_ENST00000453089.2_Missense_Mutation_p.H633N	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	664							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)	p.H664N(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		GAAGTGTCAACACATGCACCC	0.522																																						uc009yxw.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1990-1992)CAC>AAC		zinc finger CCCH-type containing 12C							155.0	164.0	161.0					11																	110035800		2039	4198	6237	SO:0001583	missense	85463						endonuclease activity|nucleic acid binding|zinc ion binding	g.chr11:110035800C>A		CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"""Zinc fingers, CCCH-type domain containing"""	29362	protein-coding gene	gene with protein product	"""MCP induced protein 3"""	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.1990C>A	11.37:g.110035800C>A	ENSP00000278590:p.His664Asn					ZC3H12C_uc010rwc.1_Missense_Mutation_p.H665N|ZC3H12C_uc010rwd.1_Missense_Mutation_p.H665N|ZC3H12C_uc001pkr.3_Missense_Mutation_p.H633N	p.H664N	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)	6	2041	+		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	664					B4DI65|B4DR47	Missense_Mutation	SNP	ENST00000278590.3	37	c.1990C>A	CCDS44727.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.878392	0.51801	.	.	ENSG00000149289	ENST00000278590;ENST00000528673;ENST00000453089	T;T;T	0.30714	1.52;1.52;1.53	6.04	6.04	0.98038	.	0.107611	0.64402	D	0.000008	T	0.54647	0.1871	L	0.56769	1.78	0.47698	D	0.99949	B;D;B	0.63880	0.115;0.993;0.115	B;D;B	0.70227	0.031;0.968;0.031	T	0.43669	-0.9377	10	0.48119	T	0.1	-25.813	20.5792	0.99380	0.0:1.0:0.0:0.0	.	665;664;664	B4DR47;B4DI65;Q9C0D7	.;.;ZC12C_HUMAN	N	664;665;633	ENSP00000278590:H664N;ENSP00000431821:H665N;ENSP00000413094:H633N	ENSP00000278590:H664N	H	+	1	0	ZC3H12C	109541010	0.980000	0.34600	0.972000	0.41901	0.993000	0.82548	2.747000	0.47475	2.873000	0.98535	0.561000	0.74099	CAC		0.522	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390491.1		NM_033390		57	57	1	0	2.08403e-16	0.01441	2.28476e-16	57	57		
PHLDB1	23187	broad.mit.edu	37	11	118529682	118529682	+	IGR	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr11:118529682G>A	ENST00000361417.2	+	0	5753				TREH_ENST00000264029.4_Nonsense_Mutation_p.Q493*|TREH_ENST00000397925.1_Nonsense_Mutation_p.Q462*|TREH_ENST00000529101.1_Nonsense_Mutation_p.Q493*|TREH_ENST00000525958.1_Nonsense_Mutation_p.Q462*|TREH_ENST00000530256.1_Nonsense_Mutation_p.Q370*	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1									p.Q370*(1)|p.Q493*(1)		breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TGAGCCAGCTGGAAAGCCACT	0.577											OREG0021385	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001pty.1		NaN																	2	Substitution - Nonsense(2)		urinary_tract(2)	pancreas(1)	1						c.(1477-1479)CAG>TAG		trehalase precursor							103.0	109.0	107.0					11																	118529682		2020	4168	6188	SO:0001628	intergenic_variant	11181				polysaccharide digestion|trehalose catabolic process	anchored to plasma membrane	alpha,alpha-trehalase activity	g.chr11:118529682G>A		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341		11.37:g.118529682G>A			OREG0021385	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1489	TREH_uc009zaj.1_Nonsense_Mutation_p.Q462*|TREH_uc001ptz.1_Nonsense_Mutation_p.Q370*	p.Q493*	NM_007180	NP_009111	O43280	TREA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.16e-05)	13	1522	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112)	493					B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Nonsense_Mutation	SNP	ENST00000361417.2	37	c.1477C>T	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	G	37	6.561913	0.97667	.	.	ENSG00000118094	ENST00000529101;ENST00000530256;ENST00000264029;ENST00000450700;ENST00000525958;ENST00000397925	.	.	.	5.3	5.3	0.74995	.	0.323020	0.33127	N	0.005243	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-30.4511	7.5239	0.27643	0.0859:0.1681:0.746:0.0	.	.	.	.	X	493;370;493;370;462;462	.	ENSP00000264029:Q493X	Q	-	1	0	TREH	118034892	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.705000	0.47127	2.750000	0.94351	0.655000	0.94253	CAG		0.577	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1		NM_015157		52	42	0	0	0	0.01441	0	52	42		
SRPR	6734	broad.mit.edu	37	11	126138751	126138751	+	5'UTR	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr11:126138751C>T	ENST00000332118.6	-	0	103				SRPR_ENST00000532259.1_5'UTR|FOXRED1_ENST00000263578.5_5'Flank|SRPR_ENST00000530680.1_5'UTR|FOXRED1_ENST00000442061.2_5'Flank|FOXRED1_ENST00000532125.1_5'Flank	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|signal recognition particle receptor complex (GO:0005785)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		AGGCCGCGTTCGCCGCCGCTT	0.677																																						uc001qdh.2		NaN																	0					0						c.e1-1		signal recognition particle receptor							8.0	10.0	9.0					11																	126138751		1306	2286	3592	SO:0001623	5_prime_UTR_variant	6734				SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding	g.chr11:126138751C>T	BC001162	CCDS31717.1, CCDS53722.1	11q24-q25	2012-10-02	2008-10-29		ENSG00000182934	ENSG00000182934			11307	protein-coding gene	gene with protein product		182180	"""signal recognition particle receptor ('docking protein')"""			3340536, 1312991	Standard	NM_001177842		Approved	SRP-alpha, Sralpha	uc001qdh.3	P08240	OTTHUMG00000165826	ENST00000332118.6:c.-52G>A	11.37:g.126138751C>T						SRPR_uc010sbm.1_Splice_Site|FOXRED1_uc001qdi.2_5'Flank|FOXRED1_uc010sbn.1_5'Flank|FOXRED1_uc010sbo.1_5'Flank|FOXRED1_uc010sbp.1_5'Flank|FOXRED1_uc010sbq.1_5'Flank|FOXRED1_uc001qdj.2_5'Flank|FOXRED1_uc010sbr.1_5'Flank|FOXRED1_uc001qdk.2_5'Flank		NM_003139	NP_003130	P08240	SRPR_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)	1	1	-	all_hematologic(175;0.145)							A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Splice_Site	SNP	ENST00000332118.6	37	c.-50_splice	CCDS31717.1																																																																																				0.677	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386425.2		NM_003139		10	12	0	0	0	0.006214	0	10	12		
C1RL	51279	broad.mit.edu	37	12	7249214	7249214	+	Missense_Mutation	SNP	C	C	T	rs369851400		TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr12:7249214C>T	ENST00000266542.4	-	6	1329	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K	C1RL_ENST00000504702.2_Intron|C1RL_ENST00000544702.1_3'UTR|C1RL_ENST00000545280.1_Intron	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	413	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)	p.E413K(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GAAAACACCTCGGGTCTCTGT	0.552																																						uc001qsn.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(1)	1						c.(1237-1239)GAG>AAG		complement component 1, r subcomponent-like		C	LYS/GLU	0,4406		0,0,2203	137.0	141.0	140.0		1237	5.0	0.9	12		140	1,8599	1.2+/-3.3	0,1,4299	no	missense	C1RL	NM_016546.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	413/488	7249214	1,13005	2203	4300	6503	SO:0001583	missense	51279				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity	g.chr12:7249214C>T	AF178985	CCDS8573.1, CCDS73431.1	12p13.31	2008-02-05				ENSG00000139178			21265	protein-coding gene	gene with protein product		608974				12838346	Standard	XM_005253385		Approved	C1r-LP, C1RL1	uc001qsn.3	Q9NZP8		ENST00000266542.4:c.1237G>A	12.37:g.7249214C>T	ENSP00000266542:p.Glu413Lys					C1RL_uc009zft.2_3'UTR	p.E413K	NM_016546	NP_057630	Q9NZP8	C1RL_HUMAN			6	1254	-			413			Peptidase S1.		Q53GX9	Missense_Mutation	SNP	ENST00000266542.4	37	c.1237G>A	CCDS8573.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.377380	0.24944	0.0	1.16E-4	ENSG00000139178	ENST00000266542;ENST00000396661	T	0.41758	0.99	4.98	4.98	0.66077	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.292726	0.30752	N	0.008943	T	0.25717	0.0626	N	0.10809	0.05	0.80722	D	1	P	0.35208	0.49	B	0.36845	0.234	T	0.08126	-1.0737	10	0.13853	T	0.58	.	15.782	0.78267	0.0:1.0:0.0:0.0	.	413	Q9NZP8	C1RL_HUMAN	K	413	ENSP00000266542:E413K	ENSP00000266542:E413K	E	-	1	0	C1RL	7140356	0.879000	0.30193	0.926000	0.36857	0.211000	0.24417	3.751000	0.55165	2.595000	0.87683	0.511000	0.50034	GAG		0.552	C1RL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398367.1		NM_016546		63	130	0	0	0	0.01441	0	63	130		
PLEKHA5	54477	broad.mit.edu	37	12	19407999	19407999	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr12:19407999C>T	ENST00000299275.6	+	5	338	c.332C>T	c.(331-333)tCt>tTt	p.S111F	PLEKHA5_ENST00000317589.4_Missense_Mutation_p.S111F|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.S3F|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.S111F|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.S111F|PLEKHA5_ENST00000309364.4_Missense_Mutation_p.S111F|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.S111F|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.S111F|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.S3F|PLEKHA5_ENST00000539256.1_5'UTR	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	111					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)	p.S111F(2)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					ACCATGACATCTGAAGAAAAG	0.378																																					Pancreas(196;329 2193 11246 14234 19524)	uc001reb.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)|kidney(1)|skin(1)	3						c.(331-333)TCT>TTT		pleckstrin homology domain containing, family A							110.0	104.0	106.0					12																	19407999		2203	4300	6503	SO:0001583	missense	54477						1-phosphatidylinositol binding|protein binding	g.chr12:19407999C>T	AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.332C>T	12.37:g.19407999C>T	ENSP00000299275:p.Ser111Phe					PLEKHA5_uc010sie.1_Missense_Mutation_p.S111F|PLEKHA5_uc001rea.2_Missense_Mutation_p.S111F|PLEKHA5_uc009zin.2_5'UTR|PLEKHA5_uc010sif.1_Missense_Mutation_p.S3F|PLEKHA5_uc010sig.1_Missense_Mutation_p.S3F|PLEKHA5_uc010sih.1_Missense_Mutation_p.S3F	p.S111F	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN			5	418	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)		111					A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	ENST00000299275.6	37	c.332C>T	CCDS8682.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.034320	0.75617	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000309364;ENST00000412219;ENST00000429027;ENST00000299275;ENST00000538714;ENST00000538305;ENST00000424268;ENST00000543806;ENST00000536974	T;T;T;T;T;T;T;T;T;T;T	0.32988	2.84;2.83;2.84;2.83;2.83;2.83;2.83;1.43;2.8;2.83;2.84	4.98	4.98	0.66077	.	0.486738	0.20897	N	0.083703	T	0.46718	0.1407	L	0.38175	1.15	0.80722	D	1	D;D;D;D;D;D	0.76494	0.994;0.999;0.998;0.993;0.997;0.999	D;D;D;P;P;D	0.74348	0.983;0.952;0.923;0.806;0.825;0.953	T	0.44620	-0.9316	10	0.87932	D	0	-9.1629	16.607	0.84832	0.0:1.0:0.0:0.0	.	111;3;3;111;111;111	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;Q9HAU0;Q9HAU0-2	.;.;.;.;PKHA5_HUMAN;.	F	111;111;111;111;111;111;111;111;111;3;3;3;3	ENSP00000325155:S111F;ENSP00000347560:S111F;ENSP00000352104:S111F;ENSP00000311239:S111F;ENSP00000404296:S111F;ENSP00000299275:S111F;ENSP00000439673:S111F;ENSP00000446308:S3F;ENSP00000400411:S3F;ENSP00000439837:S3F;ENSP00000440371:S3F	ENSP00000299275:S111F	S	+	2	0	PLEKHA5	19299266	1.000000	0.71417	0.992000	0.48379	0.974000	0.67602	4.610000	0.61155	2.576000	0.86940	0.467000	0.42956	TCT		0.378	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1		NM_019012		10	63	0	0	0	0.008291	0	10	63		
GYS2	2998	broad.mit.edu	37	12	21721862	21721862	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr12:21721862C>T	ENST00000261195.2	-	5	1014	c.760G>A	c.(760-762)Gtg>Atg	p.V254M		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	254					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)	p.V254M(1)		NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GTGGTGAACACGTGAGCGCAA	0.428																																					Colon(149;9 1820 3690 10544 50424)	uc001rfb.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(1)|skin(1)	2						c.(760-762)GTG>ATG		glycogen synthase 2							180.0	169.0	173.0					12																	21721862		2203	4300	6503	SO:0001583	missense	2998				glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity	g.chr12:21721862C>T		CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.760G>A	12.37:g.21721862C>T	ENSP00000261195:p.Val254Met						p.V254M	NM_021957	NP_068776	P54840	GYS2_HUMAN			5	1015	-			254					A0AVD8	Missense_Mutation	SNP	ENST00000261195.2	37	c.760G>A	CCDS8690.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.131201	0.77549	.	.	ENSG00000111713	ENST00000261195	T	0.70045	-0.45	5.16	4.27	0.50696	.	0.130212	0.51477	D	0.000085	D	0.83866	0.5347	M	0.91249	3.19	0.58432	D	0.999998	P	0.51449	0.945	D	0.64877	0.93	D	0.87515	0.2442	10	0.87932	D	0	-10.8854	13.7072	0.62646	0.0:0.926:0.0:0.074	.	254	P54840	GYS2_HUMAN	M	254	ENSP00000261195:V254M	ENSP00000261195:V254M	V	-	1	0	GYS2	21613129	1.000000	0.71417	0.135000	0.22099	0.907000	0.53573	4.645000	0.61404	1.400000	0.46741	0.655000	0.94253	GTG		0.428	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1		NM_021957		30	53	0	0	0	0.009535	0	30	53		
SYT10	341359	broad.mit.edu	37	12	33532824	33532824	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr12:33532824C>G	ENST00000228567.3	-	6	1739	c.1443G>C	c.(1441-1443)tgG>tgC	p.W481C	SYT10_ENST00000535526.1_Missense_Mutation_p.W300C	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	481					regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.W481C(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GCATTTCATTCCAGTGGTCTC	0.463																																						uc001rll.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(1441-1443)TGG>TGC		synaptotagmin X							252.0	207.0	222.0					12																	33532824		2203	4300	6503	SO:0001583	missense	341359					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr12:33532824C>G	AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"""Synaptotagmins"""	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.1443G>C	12.37:g.33532824C>G	ENSP00000228567:p.Trp481Cys					SYT10_uc009zju.1_Missense_Mutation_p.W291C	p.W481C	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN			6	1740	-	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)		481			Cytoplasmic (Potential).		Q495U2	Missense_Mutation	SNP	ENST00000228567.3	37	c.1443G>C	CCDS8732.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.205167	0.79127	.	.	ENSG00000110975	ENST00000228567;ENST00000535526	T;T	0.77358	-1.09;-1.09	4.3	4.3	0.51218	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.39341	U	0.001399	D	0.90607	0.7055	M	0.92784	3.345	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92771	0.6232	10	0.87932	D	0	.	17.0422	0.86492	0.0:1.0:0.0:0.0	.	481	Q6XYQ8	SYT10_HUMAN	C	481;300	ENSP00000228567:W481C;ENSP00000438691:W300C	ENSP00000228567:W481C	W	-	3	0	SYT10	33424091	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.329000	0.79170	2.679000	0.91253	0.650000	0.86243	TGG		0.463	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1		NM_198992		42	78	0	0	0	0.00874	0	42	78		
OR10AD1	121275	broad.mit.edu	37	12	48596451	48596451	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr12:48596451G>A	ENST00000310248.2	-	1	719	c.625C>T	c.(625-627)Ctc>Ttc	p.L209F		NM_001004134.1	NP_001004134.1	Q8NGE0	O10AD_HUMAN	olfactory receptor, family 10, subfamily AD, member 1	209						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L209F(1)		endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1)	9						ATGGGGCTGAGAATTACCACG	0.537																																						uc001rrl.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(625-627)CTC>TTC		olfactory receptor, family 10, subfamily AD,							80.0	67.0	71.0					12																	48596451		2203	4300	6503	SO:0001583	missense	121275				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:48596451G>A		CCDS31787.1	12q13.11	2013-09-24	2002-11-13	2002-11-15	ENSG00000172640	ENSG00000172640		"""GPCR / Class A : Olfactory receptors"""	14819	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily AD, member 1 pseudogene"""	OR10AD1P			Standard	NM_001004134		Approved		uc001rrl.1	Q8NGE0	OTTHUMG00000168027	ENST00000310248.2:c.625C>T	12.37:g.48596451G>A	ENSP00000308689:p.Leu209Phe						p.L209F	NM_001004134	NP_001004134	Q8NGE0	O10AD_HUMAN			1	625	-			209			Helical; Name=5; (Potential).		B9EGT9|Q6IFA8	Missense_Mutation	SNP	ENST00000310248.2	37	c.625C>T	CCDS31787.1	.	.	.	.	.	.	.	.	.	.	G	7.335	0.619726	0.14193	.	.	ENSG00000172640	ENST00000310248	T	0.39056	1.1	4.83	3.0	0.34707	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34986	N	0.003533	T	0.34803	0.0910	L	0.52759	1.655	0.21822	N	0.999524	B	0.15719	0.014	B	0.16289	0.015	T	0.31916	-0.9926	10	0.54805	T	0.06	-35.0666	8.9763	0.35937	0.1867:0.0:0.8133:0.0	.	209	Q8NGE0	O10AD_HUMAN	F	209	ENSP00000308689:L209F	ENSP00000308689:L209F	L	-	1	0	OR10AD1	46882718	0.013000	0.17824	1.000000	0.80357	0.133000	0.20885	0.315000	0.19451	1.401000	0.46761	0.561000	0.74099	CTC		0.537	OR10AD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397577.1				14	28	0	0	0	0.016723	0	14	28		
KRT74	121391	broad.mit.edu	37	12	52967248	52967248	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr12:52967248G>A	ENST00000305620.2	-	1	361	c.314C>T	c.(313-315)tCt>tTt	p.S105F	KRT74_ENST00000549343.1_Missense_Mutation_p.S105F	NM_175053.3	NP_778223.2	Q7RTS7	K2C74_HUMAN	keratin 74	105	Gly-rich.|Head.				intermediate filament cytoskeleton organization (GO:0045104)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	keratin filament binding (GO:1990254)|structural molecule activity (GO:0005198)	p.S105F(1)		kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		TGGGCACACAGACAAACATGC	0.637																																						uc001sap.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(313-315)TCT>TTT		keratin 6 irs4							67.0	72.0	71.0					12																	52967248		2203	4300	6503	SO:0001583	missense	121391					keratin filament	structural molecule activity	g.chr12:52967248G>A	BK000977	CCDS8832.1	12q13.13	2013-06-25			ENSG00000170484	ENSG00000170484		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28929	protein-coding gene	gene with protein product		608248				12648212, 16831889	Standard	NM_175053		Approved	K6IRS4, KRT5C, KRT6IRS4	uc001sap.1	Q7RTS7	OTTHUMG00000169658	ENST00000305620.2:c.314C>T	12.37:g.52967248G>A	ENSP00000307240:p.Ser105Phe						p.S105F	NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.191)	1	362	-			105			Head.|Gly-rich.		B5MD61|Q86Y45	Missense_Mutation	SNP	ENST00000305620.2	37	c.314C>T	CCDS8832.1	.	.	.	.	.	.	.	.	.	.	G	3.735	-0.054797	0.07362	.	.	ENSG00000170484	ENST00000549343;ENST00000305620	T;T	0.80653	-1.4;-1.4	4.39	4.39	0.52855	.	0.000000	0.34932	N	0.003573	T	0.80358	0.4608	M	0.81497	2.545	0.09310	N	1	B	0.20671	0.047	B	0.25614	0.062	T	0.73408	-0.3992	10	0.59425	D	0.04	.	10.2936	0.43610	0.0:0.2048:0.6624:0.1327	.	105	Q7RTS7	K2C74_HUMAN	F	105	ENSP00000447447:S105F;ENSP00000307240:S105F	ENSP00000307240:S105F	S	-	2	0	KRT74	51253515	.	.	0.045000	0.18777	0.013000	0.08279	.	.	2.378000	0.81104	0.555000	0.69702	TCT		0.637	KRT74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405324.1		NM_175053		35	48	0	0	0	0.015359	0	35	48		
MDM2	4193	broad.mit.edu	37	12	69207366	69207366	+	Silent	SNP	A	A	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr12:69207366A>G	ENST00000393410.1	+	2	114	c.114A>G	c.(112-114)ttA>ttG	p.L38L	MDM2_ENST00000393413.3_Intron|MDM2_ENST00000299252.4_Silent_p.L38L|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000517852.1_Silent_p.L38L|MDM2_ENST00000428863.2_Intron|MDM2_ENST00000356290.4_Silent_p.L38L|MDM2_ENST00000258149.5_Silent_p.L38L|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000462284.1_Silent_p.L44L|MDM2_ENST00000540827.1_Intron|MDM2_ENST00000258148.7_Silent_p.L44L|MDM2_ENST00000350057.5_Intron|MDM2_ENST00000544561.1_Silent_p.L38L|MDM2_ENST00000348801.2_Intron|MDM2_ENST00000360430.2_Intron|MDM2_ENST00000545204.1_Intron			Q00987	MDM2_HUMAN	MDM2 proto-oncogene, E3 ubiquitin protein ligase	38	Necessary for interaction with USP2.|SWIB.				cellular response to acid chemical (GO:0071229)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to estrogen stimulus (GO:0071391)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to UV-C (GO:0071494)|cellular response to vitamin B1 (GO:0071301)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of protein localization (GO:0045184)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein processing (GO:0010955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-lysine modification (GO:0018205)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein export from nucleus (GO:0046827)|protein complex assembly (GO:0006461)|protein destabilization (GO:0031648)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of protein catabolic process (GO:0042176)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ether (GO:0045472)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to morphine (GO:0043278)|synaptic transmission (GO:0007268)|traversing start control point of mitotic cell cycle (GO:0007089)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L44L(1)|p.L38L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TGAAGTTATTAAAGTCTGTTG	0.353			A		"""sarcoma, glioma, colorectal, other"""																																	uc001sui.2		NaN		Dom	yes		12	12q15	4193	A	Mdm2 p53 binding protein homolog			"""M, O, E, L"""			sarcoma|glioma|colorectal|other		2	Substitution - coding silent(2)		urinary_tract(2)	lung(2)|central_nervous_system(1)	3						c.(130-132)TTA>TTG		mouse double minute 2 homolog isoform MDM2							147.0	145.0	146.0					12																	69207366		1830	4089	5919	SO:0001819	synonymous_variant	4193				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:69207366A>G		CCDS8986.2, CCDS61189.1	12q13-q14	2014-06-26	2014-06-26		ENSG00000135679	ENSG00000135679			6973	protein-coding gene	gene with protein product		164785	"""mouse double minute 2, human homolog of; p53-binding protein"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)"", ""Mdm2 p53 binding protein homolog (mouse)"""			1614537, 16905769	Standard	NM_002392		Approved	HDM2, MGC5370	uc001sui.4	Q00987	OTTHUMG00000142827	ENST00000393410.1:c.114A>G	12.37:g.69207366A>G						MDM2_uc009zri.2_Silent_p.L44L|MDM2_uc009zqx.2_Silent_p.L44L|MDM2_uc009zqw.2_Silent_p.L44L|MDM2_uc001suk.2_Silent_p.L44L|MDM2_uc009zqy.1_Silent_p.L33L|MDM2_uc001sun.3_Silent_p.L33L|MDM2_uc009zqz.2_Silent_p.L38L|MDM2_uc009zra.2_Silent_p.L38L|MDM2_uc009zrb.1_RNA|MDM2_uc001sum.1_Silent_p.L33L|MDM2_uc009zrd.2_Intron|MDM2_uc009zrc.2_5'UTR|MDM2_uc009zre.2_Silent_p.L33L|MDM2_uc009zrf.2_Intron|MDM2_uc001suo.2_Intron|MDM2_uc009zrg.2_Intron|MDM2_uc009zrh.2_Intron	p.L44L	NM_002392	NP_002383	Q00987	MDM2_HUMAN	all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)		3	419	+	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		38			Necessary for interaction with USP2.|SWIB.		A6NL51|A8K2S6|Q13226|Q13297|Q13298|Q13299|Q13300|Q13301|Q53XW0|Q71TW9|Q8WYJ1|Q8WYJ2|Q9UGI3|Q9UMT8	Silent	SNP	ENST00000393410.1	37	c.132A>G																																																																																					0.353	MDM2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000286422.1		NM_006880		45	80	0	0	0	0.01441	0	45	80		
PTPRB	5787	broad.mit.edu	37	12	70986212	70986212	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr12:70986212G>A	ENST00000261266.5	-	5	1005	c.976C>T	c.(976-978)Cac>Tac	p.H326Y	PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000451516.2_Missense_Mutation_p.H326Y|PTPRB_ENST00000334414.6_Missense_Mutation_p.H544Y|PTPRB_ENST00000538708.1_Missense_Mutation_p.H326Y|PTPRB_ENST00000551525.1_Missense_Mutation_p.H543Y|PTPRB_ENST00000550857.1_Missense_Mutation_p.H326Y|PTPRB_ENST00000550358.1_Missense_Mutation_p.H544Y	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	326	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.H326Y(2)|p.H544Y(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GTCCCTTTGTGAGACAGGGTG	0.418																																						uc001swb.3		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	lung(2)|skin(1)	3						c.(976-978)CAC>TAC		protein tyrosine phosphatase, receptor type, B							72.0	66.0	68.0					12																	70986212		1853	4095	5948	SO:0001583	missense	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70986212G>A	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.976C>T	12.37:g.70986212G>A	ENSP00000261266:p.His326Tyr					PTPRB_uc010sto.1_Missense_Mutation_p.H326Y|PTPRB_uc010stp.1_Missense_Mutation_p.H326Y|PTPRB_uc001swc.3_Missense_Mutation_p.H544Y|PTPRB_uc001swa.3_Missense_Mutation_p.H544Y|PTPRB_uc001swd.3_Missense_Mutation_p.H543Y|PTPRB_uc009zrr.1_Missense_Mutation_p.H423Y|PTPRB_uc001swe.2_Missense_Mutation_p.H544Y	p.H326Y	NM_002837	NP_002828	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		5	1006	-	Renal(347;0.236)		326			Fibronectin type-III 4.|Extracellular (Potential).		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.976C>T	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	G	8.588	0.883845	0.17467	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000544694;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41	5.96	5.08	0.68730	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.219434	0.48286	N	0.000181	T	0.56381	0.1981	M	0.82323	2.585	0.21861	N	0.999503	B;B;B;B;B;B;B;B	0.17038	0.002;0.002;0.004;0.02;0.001;0.001;0.001;0.003	B;B;B;B;B;B;B;B	0.23852	0.005;0.005;0.013;0.049;0.005;0.005;0.005;0.007	T	0.54227	-0.8325	10	0.48119	T	0.1	.	10.7236	0.46055	0.0683:0.1311:0.8006:0.0	.	326;326;423;544;543;544;326;544	P23467-2;F5H3G6;Q6ZR19;Q6ZTX7;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;.;PTPRB_HUMAN;.	Y	544;326;544;544;326;326;326;543;423	ENSP00000334928:H544Y;ENSP00000393028:H326Y;ENSP00000448058:H544Y;ENSP00000438927:H326Y;ENSP00000447302:H326Y;ENSP00000261266:H326Y;ENSP00000448349:H543Y;ENSP00000446982:H423Y	ENSP00000261266:H326Y	H	-	1	0	PTPRB	69272479	1.000000	0.71417	0.999000	0.59377	0.046000	0.14306	1.630000	0.37081	1.541000	0.49316	0.655000	0.94253	CAC		0.418	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1				6	47	0	0	0	0.021553	0	6	47		
RASSF9	9182	broad.mit.edu	37	12	86199359	86199359	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr12:86199359G>A	ENST00000361228.3	-	2	797	c.429C>T	c.(427-429)ctC>ctT	p.L143L		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	143					endosomal transport (GO:0016197)|protein targeting (GO:0006605)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|trans-Golgi network transport vesicle membrane (GO:0012510)	transporter activity (GO:0005215)	p.L143L(2)		endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTGCTGGGCTGAGCTCCCACA	0.398																																						uc001taf.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(1)	1						c.(427-429)CTC>CTT		Ras association (RalGDS/AF-6) domain family							210.0	203.0	205.0					12																	86199359		1868	4109	5977	SO:0001819	synonymous_variant	9182				endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity	g.chr12:86199359G>A		CCDS44950.1	12q21.31	2008-02-22	2008-02-22	2008-02-22		ENSG00000198774			15739	protein-coding gene	gene with protein product		610383	"""peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor"""	PAMCI		9837933, 18272789	Standard	NM_005447		Approved	P-CIP1	uc001taf.1	O75901	OTTHUMG00000169831	ENST00000361228.3:c.429C>T	12.37:g.86199359G>A							p.L143L	NM_005447	NP_005438	O75901	RASF9_HUMAN			2	768	-			143					B3KMQ4|Q8N5U8	Silent	SNP	ENST00000361228.3	37	c.429C>T	CCDS44950.1																																																																																				0.398	RASSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406109.1				88	135	0	0	0	0.01441	0	88	135		
USP44	84101	broad.mit.edu	37	12	95918479	95918479	+	Silent	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr12:95918479G>C	ENST00000258499.3	-	4	1998	c.1710C>G	c.(1708-1710)ctC>ctG	p.L570L	USP44_ENST00000537435.2_Silent_p.L570L|USP44_ENST00000552440.1_3'UTR|USP44_ENST00000393091.2_Silent_p.L570L	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	570	USP.				mitotic nuclear division (GO:0007067)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deubiquitination (GO:0016579)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|regulation of spindle checkpoint (GO:0090231)	nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.L570L(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						GGTGCAGTCTGAGAACCTGAG	0.403																																						uc001teg.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	lung(1)|breast(1)|central_nervous_system(1)	3						c.(1708-1710)CTC>CTG		ubiquitin thiolesterase 44							178.0	165.0	169.0					12																	95918479		2203	4300	6503	SO:0001819	synonymous_variant	84101				anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr12:95918479G>C	AK027434	CCDS9053.1	12q21.33	2005-08-08	2005-08-08			ENSG00000136014		"""Ubiquitin-specific peptidases"""	20064	protein-coding gene	gene with protein product		610993	"""ubiquitin specific protease 44"""			12838346	Standard	NM_001278393		Approved	FLJ14528	uc001teg.3	Q9H0E7		ENST00000258499.3:c.1710C>G	12.37:g.95918479G>C						USP44_uc001teh.2_Silent_p.L570L|USP44_uc009zte.2_Silent_p.L567L	p.L570L	NM_001042403	NP_001035862	Q9H0E7	UBP44_HUMAN			4	1854	-			570					B2RDW3	Silent	SNP	ENST00000258499.3	37	c.1710C>G	CCDS9053.1																																																																																				0.403	USP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408312.1		NM_032147		33	35	0	0	0	0.013726	0	33	35		
BTBD11	121551	broad.mit.edu	37	12	108008937	108008937	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr12:108008937C>T	ENST00000280758.5	+	7	2527	c.1999C>T	c.(1999-2001)Cag>Tag	p.Q667*	BTBD11_ENST00000420571.2_Nonsense_Mutation_p.Q667*|RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000357167.4_Nonsense_Mutation_p.Q204*|BTBD11_ENST00000490090.2_Nonsense_Mutation_p.Q667*	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	667						integral component of membrane (GO:0016021)		p.Q667*(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TCCTGTAGTTCAGGTATTAAC	0.438																																						uc001tmk.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	skin(2)|ovary(1)	3						c.(1999-2001)CAG>TAG		BTB (POZ) domain containing 11 isoform a							175.0	154.0	161.0					12																	108008937		2203	4300	6503	SO:0001587	stop_gained	121551					integral to membrane	DNA binding	g.chr12:108008937C>T	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.1999C>T	12.37:g.108008937C>T	ENSP00000280758:p.Gln667*					BTBD11_uc009zut.1_Nonsense_Mutation_p.Q667*|BTBD11_uc001tmj.2_Nonsense_Mutation_p.Q667*|BTBD11_uc001tml.1_Nonsense_Mutation_p.Q204*	p.Q667*	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN			7	2520	+			667			ANK 2.		A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Nonsense_Mutation	SNP	ENST00000280758.5	37	c.1999C>T	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	C	40	8.219086	0.98712	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090;ENST00000357167	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	19.7698	0.96359	0.0:1.0:0.0:0.0	.	.	.	.	X	667;667;667;204	.	ENSP00000280758:Q667X	Q	+	1	0	BTBD11	106533067	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.803000	0.85983	2.659000	0.90383	0.655000	0.94253	CAG		0.438	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1		NM_152322		8	33	0	0	0	0.00308	0	8	33		
SDS	10993	broad.mit.edu	37	12	113830871	113830871	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr12:113830871C>T	ENST00000257549.4	-	8	984	c.862G>A	c.(862-864)Gag>Aag	p.E288K		NM_006843.2	NP_006834.2	P20132	SDHL_HUMAN	serine dehydratase	288					gluconeogenesis (GO:0006094)|L-serine catabolic process (GO:0006565)|pyruvate biosynthetic process (GO:0042866)|response to amino acid (GO:0043200)|response to cobalamin (GO:0033590)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	L-serine ammonia-lyase activity (GO:0003941)|L-threonine ammonia-lyase activity (GO:0004794)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)	p.E288K(1)		large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11					L-Serine(DB00133)	AGATTCCCCTCCAGTTGGAGC	0.652																																						uc001tvg.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(1)	1						c.(862-864)GAG>AAG		serine dehydratase	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						96.0	95.0	95.0					12																	113830871		2203	4300	6503	SO:0001583	missense	10993				gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr12:113830871C>T	J05037	CCDS9169.1	12q24.13	2014-06-24			ENSG00000135094	ENSG00000135094	4.3.1.17		10691	protein-coding gene	gene with protein product	"""L-serine ammonia-lyase"""	182128				2674117	Standard	NM_006843		Approved	SDH	uc001tvg.3	P20132	OTTHUMG00000169554	ENST00000257549.4:c.862G>A	12.37:g.113830871C>T	ENSP00000257549:p.Glu288Lys						p.E288K	NM_006843	NP_006834	P20132	SDHL_HUMAN			8	984	-			288					A8K9P5	Missense_Mutation	SNP	ENST00000257549.4	37	c.862G>A	CCDS9169.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.883288	0.33255	.	.	ENSG00000135094	ENST00000257549	D	0.96491	-4.03	4.6	2.66	0.31614	Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.321302	0.27176	N	0.020569	D	0.92609	0.7652	L	0.36672	1.1	0.34961	D	0.752218	B	0.15473	0.013	B	0.22753	0.041	D	0.89115	0.3499	10	0.27082	T	0.32	-30.603	12.506	0.55981	0.0:0.6774:0.3226:0.0	.	288	P20132	SDHL_HUMAN	K	288	ENSP00000257549:E288K	ENSP00000257549:E288K	E	-	1	0	SDS	112315254	0.968000	0.33430	0.257000	0.24404	0.098000	0.18820	2.832000	0.48152	0.471000	0.27319	0.561000	0.74099	GAG		0.652	SDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404790.1		NM_006843		57	92	0	0	0	0.01441	0	57	92		
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389562.2_Silent_p.Q2724Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	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.Q2724Q(16)|p.Q2725Q(1)		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)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					uc001ujn.2		NaN																	17	Substitution - coding silent(17)		prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12						c.(8173-8175)CAG>CAA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	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.chr12:132547087G>A	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.8283G>A	12.37:g.132547087G>A						EP400_uc001ujl.2_Silent_p.Q2724Q|EP400_uc001ujm.2_Silent_p.Q2644Q|EP400_uc001ujp.2_5'UTR	p.Q2725Q	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	8210	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Poly-Gln.|Interaction with ZNF42 (By similarity).		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8175G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_015409		7	42	0	0	0	0.00308	0	7	42		
PARP4	143	broad.mit.edu	37	13	25074482	25074482	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr13:25074482C>T	ENST00000381989.3	-	4	478	c.373G>A	c.(373-375)Gag>Aag	p.E125K		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	125					cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.E125K(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TCTTCCTCCTCTGTGGCACTG	0.398																																						uc001upl.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|skin(1)	4						c.(373-375)GAG>AAG		poly (ADP-ribose) polymerase family, member 4							123.0	117.0	119.0					13																	25074482		2203	4300	6503	SO:0001583	missense	143				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	g.chr13:25074482C>T	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.373G>A	13.37:g.25074482C>T	ENSP00000371419:p.Glu125Lys					PARP4_uc010tdc.1_Missense_Mutation_p.E125K	p.E125K	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	4	479	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	125					O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	ENST00000381989.3	37	c.373G>A	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	C	9.787	1.176810	0.21704	.	.	ENSG00000102699	ENST00000381989	T	0.43294	0.95	3.38	2.53	0.30540	.	1.343330	0.04553	N	0.390226	T	0.38852	0.1056	L	0.57536	1.79	0.09310	N	1	P	0.47762	0.9	B	0.39706	0.307	T	0.27673	-1.0067	10	0.28530	T	0.3	-6.4897	6.6099	0.22745	0.0:0.8686:0.0:0.1314	.	125	Q9UKK3	PARP4_HUMAN	K	125	ENSP00000371419:E125K	ENSP00000371419:E125K	E	-	1	0	PARP4	23972482	0.025000	0.19082	0.014000	0.15608	0.013000	0.08279	1.470000	0.35354	0.994000	0.38892	0.544000	0.68410	GAG		0.398	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1		NM_006437		26	55	0	0	0	0.007291	0	26	55		
N4BP2L2	10443	broad.mit.edu	37	13	33110210	33110210	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr13:33110210C>A	ENST00000267068.3	-	2	1119	c.955G>T	c.(955-957)Gta>Tta	p.V319L	N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000446957.2_Missense_Mutation_p.V319L|N4BP2L2_ENST00000357505.6_Intron|N4BP2L2_ENST00000399396.3_Intron	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	319					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)	p.V319L(1)		kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		CAATTATTTACATAATATCCA	0.348																																						uc001uuk.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(955-957)GTA>TTA		phosphonoformate immuno-associated protein 5							58.0	59.0	59.0					13																	33110210		2203	4300	6503	SO:0001583	missense	10443							g.chr13:33110210C>A	U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"""phosphonoformate immuno-associated protein 5"""	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000267068.3:c.955G>T	13.37:g.33110210C>A	ENSP00000267068:p.Val319Leu					N4BP2L2_uc010abe.1_Intron|N4BP2L2_uc010tdz.1_Intron|N4BP2L2_uc001uul.1_Missense_Mutation_p.V319L|N4BP2L2_uc001uum.2_5'Flank	p.V319L	NM_014887	NP_055702	Q92802	N42L2_HUMAN		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)	2	1133	-		Lung SC(185;0.0262)	319					A3KME8	Missense_Mutation	SNP	ENST00000267068.3	37	c.955G>T	CCDS9346.1	.	.	.	.	.	.	.	.	.	.	C	8.920	0.960785	0.18583	.	.	ENSG00000244754	ENST00000446957;ENST00000505213;ENST00000267068	T;T;T	0.47869	0.85;0.83;0.83	5.7	3.05	0.35203	.	.	.	.	.	T	0.36799	0.0980	L	0.56769	1.78	0.09310	N	0.999999	B;B	0.30406	0.278;0.278	B;B	0.21360	0.034;0.034	T	0.21008	-1.0258	9	0.20046	T	0.44	-9.5676	6.2122	0.20636	0.1298:0.6671:0.0:0.2031	.	319;319	D6R968;Q92802	.;N42L2_HUMAN	L	319	ENSP00000394239:V319L;ENSP00000423362:V319L;ENSP00000267068:V319L	ENSP00000267068:V319L	V	-	1	0	N4BP2L2	32008210	0.006000	0.16342	0.000000	0.03702	0.865000	0.49528	0.564000	0.23563	0.348000	0.23949	0.650000	0.86243	GTA		0.348	N4BP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044421.1		NM_014887		22	49	1	0	2.27731e-05	0.012319	2.37552e-05	22	49		
SUPT20H	55578	broad.mit.edu	37	13	37618294	37618294	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr13:37618294T>C	ENST00000350612.6	-	7	537	c.317A>G	c.(316-318)tAt>tGt	p.Y106C	SUPT20H_ENST00000356185.3_Missense_Mutation_p.Y107C|SUPT20H_ENST00000360252.4_Missense_Mutation_p.Y107C|SUPT20H_ENST00000475892.1_Missense_Mutation_p.Y106C|SUPT20H_ENST00000542180.1_Missense_Mutation_p.Y94C|SUPT20H_ENST00000470359.2_5'UTR|SUPT20H_ENST00000464744.1_Missense_Mutation_p.Y107C	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)	106					autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)	p.Y106C(1)									TCCTTCTTCATAGGGCAGTCG	0.338																																						uc001uwg.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(316-318)TAT>TGT		family with sequence similarity 48, member A							84.0	86.0	85.0					13																	37618294		2203	4300	6503	SO:0001583	missense	55578				autophagy|gastrulation	SAGA-type complex	protein binding	g.chr13:37618294T>C	AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710			20596	protein-coding gene	gene with protein product	"""p38 interacting protein"", ""transcription factor (p38 interacting protein)"""	613417	"""chromosome 13 open reading frame 19"", ""family with sequence similarity 48, member A"""	C13orf19, FAM48A		12070015 , 16685401	Standard	NM_001278480		Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000350612.6:c.317A>G	13.37:g.37618294T>C	ENSP00000218894:p.Tyr106Cys					FAM48A_uc010abt.2_Missense_Mutation_p.Y107C|FAM48A_uc001uwh.2_Missense_Mutation_p.Y107C|FAM48A_uc001uwi.2_Missense_Mutation_p.Y106C|FAM48A_uc001uwj.2_Missense_Mutation_p.Y107C|FAM48A_uc001uwk.2_Missense_Mutation_p.Y106C|FAM48A_uc010tes.1_Missense_Mutation_p.Y94C|FAM48A_uc001uwl.1_Missense_Mutation_p.Y106C	p.Y106C	NM_001014286	NP_001014308	Q8NEM7	FA48A_HUMAN		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)	7	565	-		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)	106					E7ER46|Q71RF3|Q9Y6A6	Missense_Mutation	SNP	ENST00000350612.6	37	c.317A>G	CCDS31959.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.261116	0.80246	.	.	ENSG00000102710	ENST00000360252;ENST00000475892;ENST00000350612;ENST00000356185;ENST00000536874;ENST00000464744;ENST00000542180;ENST00000497318	T;T;T;T;T;T;T	0.61510	0.1;0.1;0.1;0.1;0.1;0.1;0.1	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	T	0.80513	0.4637	M	0.88570	2.965	0.80722	D	1	D;D;D;D;D;D	0.89917	0.987;0.987;0.997;0.977;1.0;0.994	D;D;D;D;D;D	0.97110	0.928;0.928;0.978;0.957;1.0;0.942	D	0.84248	0.0476	10	0.87932	D	0	-17.1351	16.5285	0.84344	0.0:0.0:0.0:1.0	.	94;106;106;107;107;106	B4E2D5;B3KNI1;E7ER46;A8K8L1;Q8NEM7-2;Q8NEM7	.;.;.;.;.;FA48A_HUMAN	C	107;106;106;107;106;107;94;107	ENSP00000353388:Y107C;ENSP00000417510:Y106C;ENSP00000218894:Y106C;ENSP00000348512:Y107C;ENSP00000419754:Y107C;ENSP00000439000:Y94C;ENSP00000420170:Y107C	ENSP00000218894:Y106C	Y	-	2	0	FAM48A	36516294	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.642000	0.83385	2.307000	0.77673	0.528000	0.53228	TAT		0.338	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354766.1		NM_017569		26	27	0	0	0	0.007291	0	26	27		
FNDC3A	22862	broad.mit.edu	37	13	49752710	49752710	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr13:49752710G>A	ENST00000492622.2	+	14	1842	c.1537G>A	c.(1537-1539)Ggt>Agt	p.G513S	FNDC3A_ENST00000541916.1_Missense_Mutation_p.G513S|FNDC3A_ENST00000398316.3_Missense_Mutation_p.G457S	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	513	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)	p.G513S(1)		endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		CCAGGGATATGGTTTTAAGCC	0.338																																						uc001vcm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(2)	2						c.(1537-1539)GGT>AGT		fibronectin type III domain containing 3A							115.0	116.0	115.0					13																	49752710		2203	4300	6503	SO:0001583	missense	22862					Golgi membrane|integral to membrane		g.chr13:49752710G>A	AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"""Fibronectin type III domain containing"""	20296	protein-coding gene	gene with protein product		615794	"""fibronectin type III domain containing 3"""	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.1537G>A	13.37:g.49752710G>A	ENSP00000417257:p.Gly513Ser					FNDC3A_uc001vcn.2_Missense_Mutation_p.G513S|FNDC3A_uc001vco.2_RNA|FNDC3A_uc001vcp.1_Missense_Mutation_p.G439S|FNDC3A_uc001vcq.2_Missense_Mutation_p.G457S	p.G513S	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)	14	1842	+		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	513			Fibronectin type-III 3.		B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Missense_Mutation	SNP	ENST00000492622.2	37	c.1537G>A	CCDS41886.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.998520	0.54147	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.52526	0.66;0.66;0.66	5.37	5.37	0.77165	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000003	T	0.65647	0.2711	M	0.81341	2.54	0.80722	D	1	P;B;P	0.51240	0.746;0.336;0.943	P;B;P	0.59221	0.729;0.171;0.854	T	0.61569	-0.7036	10	0.12103	T	0.63	-28.2847	18.4565	0.90722	0.0:0.0:1.0:0.0	.	457;513;513	Q9Y2H6-2;G5E9X3;Q9Y2H6	.;.;FND3A_HUMAN	S	513;449;513;457	ENSP00000417257:G513S;ENSP00000441831:G513S;ENSP00000381362:G457S	ENSP00000338579:G449S	G	+	1	0	FNDC3A	48650711	1.000000	0.71417	1.000000	0.80357	0.380000	0.30137	9.167000	0.94773	2.659000	0.90383	0.655000	0.94253	GGT		0.338	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2		NM_014923		9	24	0	0	0	0.006214	0	9	24		
ABCC4	10257	broad.mit.edu	37	13	95726579	95726579	+	Splice_Site	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr13:95726579C>T	ENST00000376887.4	-	23	2921		c.e23-1		ABCC4_ENST00000474158.1_5'Flank|ABCC4_ENST00000412704.1_Splice_Site	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4						blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.?(2)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	AACCAAGCCTCTGAATTTGAG	0.458																																						uc001vmd.3		NaN																	2	Unknown(2)		urinary_tract(2)	central_nervous_system(3)|skin(1)	4						c.e23-1		ATP-binding cassette, sub-family C, member 4	Cefazolin(DB01327)						62.0	55.0	58.0					13																	95726579		2203	4300	6503	SO:0001630	splice_region_variant	10257				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	g.chr13:95726579C>T	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.2807-1G>A	13.37:g.95726579C>T						ABCC4_uc010afk.2_Splice_Site_p.E889_splice	p.E936_splice	NM_005845	NP_005836	O15439	MRP4_HUMAN			23	2926	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)							A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Splice_Site	SNP	ENST00000376887.4	37	c.2807_splice	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.452737	0.84209	.	.	ENSG00000125257	ENST00000412704;ENST00000376887	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0203	0.97492	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCC4	94524580	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.463000	0.80869	2.730000	0.93505	0.655000	0.94253	.		0.458	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2		NM_005845	Intron	7	15	0	0	0	0.001984	0	7	15		
DNAJC3	5611	broad.mit.edu	37	13	96361561	96361561	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr13:96361561G>A	ENST00000602402.1	+	2	280	c.163G>A	c.(163-165)Gat>Aat	p.D55N	DNAJC3_ENST00000376795.6_Missense_Mutation_p.D55N	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	55					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of protein kinase activity (GO:0006469)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum Sec complex (GO:0031205)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	protein kinase inhibitor activity (GO:0004860)	p.D55N(1)		NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			ACAGCTAGCTGATGCTTTATC	0.358																																						uc001vmq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(163-165)GAT>AAT		DnaJ (Hsp40) homolog, subfamily C, member 3							135.0	120.0	125.0					13																	96361561		2203	4300	6503	SO:0001583	missense	5611				protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding	g.chr13:96361561G>A	U28424	CCDS9479.1	13q32	2013-01-10			ENSG00000102580	ENSG00000102580		"""Heat shock proteins / DNAJ (HSP40)"", ""Tetratricopeptide (TTC) repeat domain containing"""	9439	protein-coding gene	gene with protein product		601184		PRKRI		7511204, 8824806	Standard	NM_006260		Approved	P58, P58IPK, HP58	uc001vmq.3	Q13217	OTTHUMG00000017227	ENST00000602402.1:c.163G>A	13.37:g.96361561G>A	ENSP00000473631:p.Asp55Asn					DNAJC3_uc001vmp.2_Missense_Mutation_p.D55N|DNAJC3_uc001vmr.2_Missense_Mutation_p.D55N	p.D55N	NM_006260	NP_006251	Q13217	DNJC3_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.126)		2	271	+	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		55			TPR 1.		Q86WT9|Q8N4N2	Missense_Mutation	SNP	ENST00000602402.1	37	c.163G>A	CCDS9479.1	.	.	.	.	.	.	.	.	.	.	G	34	5.349519	0.95830	.	.	ENSG00000102580	ENST00000376795	.	.	.	5.92	5.92	0.95590	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.83248	0.5213	M	0.80982	2.52	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.83052	-0.0152	9	0.51188	T	0.08	-3.4173	19.0962	0.93253	0.0:0.0:1.0:0.0	.	55;55	A8KA82;Q13217	.;DNJC3_HUMAN	N	55	.	ENSP00000365991:D55N	D	+	1	0	DNAJC3	95159562	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	8.529000	0.90602	2.818000	0.97014	0.655000	0.94253	GAT		0.358	DNAJC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045504.3				10	47	0	0	0	0.008291	0	10	47		
LIG4	3981	broad.mit.edu	37	13	108861189	108861189	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr13:108861189G>C	ENST00000356922.4	-	2	2700	c.2428C>G	c.(2428-2430)Ctc>Gtc	p.L810V	LIG4_ENST00000405925.1_Missense_Mutation_p.L810V|LIG4_ENST00000442234.1_Missense_Mutation_p.L810V	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	810	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.L810V(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					AACATACTGAGAGGAGAGCAA	0.403								Non-homologous end-joining																														uc001vqn.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(2428-2430)CTC>GTC	NHEJ	DNA ligase IV							82.0	79.0	80.0					13																	108861189		2203	4300	6503	SO:0001583	missense	3981				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	g.chr13:108861189G>C	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.2428C>G	13.37:g.108861189G>C	ENSP00000349393:p.Leu810Val					LIG4_uc001vqo.2_Missense_Mutation_p.L810V|LIG4_uc010agg.1_Missense_Mutation_p.L743V|LIG4_uc010agf.2_Missense_Mutation_p.L810V|LIG4_uc001vqp.2_Missense_Mutation_p.L810V	p.L810V	NM_002312	NP_002303	P49917	DNLI4_HUMAN			2	2701	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		810			BRCT 2.		Q8IY66|Q8TEU5	Missense_Mutation	SNP	ENST00000356922.4	37	c.2428C>G	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	G	8.291	0.817646	0.16607	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.62105	0.05;0.05;0.05	5.59	4.73	0.59995	BRCT (2);	0.196591	0.42294	D	0.000736	T	0.54886	0.1886	L	0.60455	1.87	0.36365	D	0.860968	B	0.19073	0.033	B	0.19391	0.025	T	0.55988	-0.8053	10	0.19147	T	0.46	.	10.1228	0.42632	0.0731:0.0:0.7892:0.1377	.	810	P49917	DNLI4_HUMAN	V	810	ENSP00000385955:L810V;ENSP00000402030:L810V;ENSP00000349393:L810V	ENSP00000349393:L810V	L	-	1	0	LIG4	107659190	1.000000	0.71417	0.407000	0.26434	0.848000	0.48234	3.863000	0.56016	1.336000	0.45506	0.440000	0.28878	CTC		0.403	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4		NM_002312		21	43	0	0	0	0.008871	0	21	43		
MCF2L	23263	broad.mit.edu	37	13	113730363	113730363	+	Silent	SNP	T	T	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr13:113730363T>A	ENST00000375608.3	+	13	1540	c.1482T>A	c.(1480-1482)gcT>gcA	p.A494A	MCF2L_ENST00000375597.4_Silent_p.A462A|MCF2L_ENST00000421756.1_Silent_p.A468A|MCF2L_ENST00000375604.2_Silent_p.A521A|MCF2L_ENST00000442652.2_Silent_p.A494A|MCF2L_ENST00000434480.2_Silent_p.A470A|MCF2L_ENST00000423482.2_Silent_p.A462A|MCF2L_ENST00000397030.1_Silent_p.A497A|MCF2L_ENST00000375601.3_Silent_p.A468A|MCF2L_ENST00000535094.2_Silent_p.A464A			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	494					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A521A(1)|p.A468A(1)		kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GCGCGGAGGCTGCCCTCCAGG	0.522																																						uc001vsu.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(1)|kidney(1)	2						c.(1561-1563)GCT>GCA		MCF.2 cell line derived transforming							72.0	68.0	69.0					13																	113730363		2203	4298	6501	SO:0001819	synonymous_variant	23263				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr13:113730363T>A	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.1482T>A	13.37:g.113730363T>A						MCF2L_uc001vsq.2_Silent_p.A521A|MCF2L_uc010tjr.1_Silent_p.A464A|MCF2L_uc001vsr.2_Silent_p.A468A|MCF2L_uc001vss.3_Silent_p.A462A|MCF2L_uc010tjs.1_Silent_p.A462A|MCF2L_uc001vst.1_Silent_p.A426A	p.A521A	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN			12	1585	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)	494					A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Silent	SNP	ENST00000375608.3	37	c.1563T>A		.	.	.	.	.	.	.	.	.	.	T	0.411	-0.913121	0.02415	.	.	ENSG00000126217	ENST00000397017	.	.	.	5.3	-10.6	0.00265	.	.	.	.	.	T	0.42494	0.1205	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72991	-0.4123	4	.	.	.	.	4.9497	0.14008	0.0988:0.3891:0.3189:0.1932	.	.	.	.	S	125	.	.	C	+	1	0	MCF2L	112778364	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-4.268000	0.00263	-7.780000	0.00000	-1.991000	0.00449	TGC		0.522	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4				12	15	0	0	0	0.010729	0	12	15		
CDC16	8881	broad.mit.edu	37	13	115008757	115008757	+	Silent	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr13:115008757C>T	ENST00000356221.3	+	7	675	c.567C>T	c.(565-567)ccC>ccT	p.P189P	CDC16_ENST00000252458.6_Silent_p.P95P|CDC16_ENST00000375310.1_Silent_p.P95P|CDC16_ENST00000375308.1_Silent_p.P95P|CDC16_ENST00000375312.3_Silent_p.P95P|CDC16_ENST00000252457.5_Silent_p.P188P|MIR548AR_ENST00000582191.1_RNA|CDC16_ENST00000360383.3_Silent_p.P189P			Q13042	CDC16_HUMAN	cell division cycle 16	189					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of mitosis (GO:0007088)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|spindle (GO:0005819)		p.P188P(1)		endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			AATCACTACCCCTTAGCAAGC	0.308																																						uc001vuk.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(565-567)CCC>CCT		anaphase-promoting complex, subunit 6							74.0	79.0	78.0					13																	115008757		2203	4297	6500	SO:0001819	synonymous_variant	8881				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	binding	g.chr13:115008757C>T	U18291	CCDS9542.2	13q34	2013-01-17	2013-01-17		ENSG00000130177	ENSG00000130177		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1720	protein-coding gene	gene with protein product	"""anaphase-promoting complex, subunit 6"""	603461	"""CDC16 (cell division cycle 16, S. cerevisiae, homolog)"", ""CDC16 cell division cycle 16 homolog (S. cerevisiae)"", ""cell division cycle 16 homolog (S. cerevisiae)"""			7736578	Standard	NM_001078645		Approved	APC6, ANAPC6, CUT9	uc001vul.1	Q13042	OTTHUMG00000017402	ENST00000356221.3:c.567C>T	13.37:g.115008757C>T						CDC16_uc010tkm.1_3'UTR|CDC16_uc001vul.1_Silent_p.P189P|CDC16_uc001vum.1_Silent_p.P95P|CDC16_uc001vun.1_Silent_p.P188P|CDC16_uc001vuo.1_Silent_p.P188P	p.P189P	NM_003903	NP_003894	Q13042	CDC16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.0886)		7	765	+	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	189					A2A365|Q5T8C8|Q96AE6|Q9Y564	Silent	SNP	ENST00000356221.3	37	c.567C>T	CCDS9542.2																																																																																				0.308	CDC16-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276737.1		NM_003903		21	58	0	0	0	0.01892	0	21	58		
RNASE9	390443	broad.mit.edu	37	14	21025034	21025034	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr14:21025034G>A	ENST00000557068.1	-	4	1920	c.195C>T	c.(193-195)gtC>gtT	p.V65V	RNASE9_ENST00000338904.3_Silent_p.V65V|RNASE9_ENST00000557209.1_Silent_p.V70V|RNASE9_ENST00000554964.1_Silent_p.V65V|RNASE9_ENST00000404716.3_Silent_p.V70V|RNASE9_ENST00000556208.1_Silent_p.V70V|RNASE9_ENST00000555230.1_Silent_p.V65V|RNASE9_ENST00000553541.1_Silent_p.V65V|RNASE9_ENST00000553706.1_Silent_p.V70V|RNASE9_ENST00000429244.2_Silent_p.V65V			P60153	RNAS9_HUMAN	ribonuclease, RNase A family, 9 (non-active)	65						extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)	p.V65V(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)		CACGTCTTTTGACTTTTTCTT	0.363																																						uc010aho.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)	2						c.(193-195)GTC>GTT		ribonuclease, RNase A family, 9 (non-active)							157.0	159.0	158.0					14																	21025034		2203	4300	6503	SO:0001819	synonymous_variant	390443					extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21025034G>A	AY665804	CCDS32036.1, CCDS53883.1, CCDS55904.1	14q11.2	2006-10-31				ENSG00000188655		"""Ribonucleases, RNase A"""	20673	protein-coding gene	gene with protein product		614014				15676279, 12920233	Standard	NM_001001673		Approved	h461	uc010ahu.3	P60153		ENST00000557068.1:c.195C>T	14.37:g.21025034G>A						RNASE9_uc001vxq.3_Silent_p.V70V|RNASE9_uc010ahp.2_Silent_p.V70V|RNASE9_uc010ahq.2_Silent_p.V70V|RNASE9_uc010ahr.2_Silent_p.V70V|RNASE9_uc010ahs.2_Silent_p.V65V|RNASE9_uc010aht.2_Silent_p.V65V|RNASE9_uc010ahu.2_Silent_p.V65V	p.V65V	NM_001110357	NP_001103827	P60153	RNAS9_HUMAN	Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)	4	354	-	all_cancers(95;0.00238)		65					A2RQR8|A8QJS1|Q5GAN7|Q6KG53	Silent	SNP	ENST00000557068.1	37	c.195C>T	CCDS32036.1																																																																																				0.363	RNASE9-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411094.1		NM_001001673		46	70	0	0	0	0.01441	0	46	70		
ARHGEF40	55701	broad.mit.edu	37	14	21556227	21556227	+	Silent	SNP	C	C	T	rs372260993		TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr14:21556227C>T	ENST00000298694.4	+	22	4615	c.4488C>T	c.(4486-4488)gcC>gcT	p.A1496A	RP11-998D10.7_ENST00000554733.2_lincRNA|ARHGEF40_ENST00000298693.3_Silent_p.A1448A			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	1496						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A1496A(1)		large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						CCACCCTGGCCAGTCGAGGGA	0.567																																						uc001vzp.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(4486-4488)GCC>GCT		hypothetical protein LOC55701							51.0	56.0	54.0					14																	21556227		2203	4300	6503	SO:0001819	synonymous_variant	55701				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr14:21556227C>T		CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"""Rho guanine nucleotide exchange factors"""	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.4488C>T	14.37:g.21556227C>T						FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_Silent_p.A734A	p.A1496A	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08)	GBM - Glioblastoma multiforme(265;0.0197)	22	4517	+	all_cancers(95;0.00185)		1496					A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Silent	SNP	ENST00000298694.4	37	c.4488C>T	CCDS32041.1																																																																																				0.567	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1				22	23	0	0	0	0.012319	0	22	23		
AKAP6	9472	broad.mit.edu	37	14	32902953	32902953	+	Missense_Mutation	SNP	G	G	A	rs148757348		TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr14:32902953G>A	ENST00000280979.4	+	2	424	c.254G>A	c.(253-255)cGa>cAa	p.R85Q	AKAP6_ENST00000557272.1_Missense_Mutation_p.R85Q|AKAP6_ENST00000557354.1_Missense_Mutation_p.R85Q|AKAP6_ENST00000554449.1_3'UTR	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	85					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)	p.R85Q(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GAGAGGGTCCGAGACCTAACC	0.502																																					Melanoma(49;821 1200 7288 13647 42351)	uc001wrq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21						c.(253-255)CGA>CAA		A-kinase anchor protein 6		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	114.0	99.0	104.0		254	6.1	1.0	14	dbSNP_134	104	0,8600		0,0,4300	no	missense	AKAP6	NM_004274.4	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	85/2320	32902953	1,13005	2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:32902953G>A	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.254G>A	14.37:g.32902953G>A	ENSP00000280979:p.Arg85Gln					AKAP6_uc010aml.2_Missense_Mutation_p.R82Q	p.R85Q	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	2	424	+	Breast(36;0.0388)|Prostate(35;0.15)		85					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.254G>A	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	G	31	5.078504	0.94000	2.27E-4	0.0	ENSG00000151320	ENST00000280979;ENST00000557354;ENST00000557102;ENST00000557272	T;T;T	0.23754	3.14;1.89;1.89	6.12	6.12	0.99158	.	0.060789	0.64402	D	0.000004	T	0.48277	0.1491	L	0.48642	1.525	0.43803	D	0.996354	D;D	0.89917	1.0;1.0	D;D	0.72075	0.944;0.976	T	0.30504	-0.9976	10	0.87932	D	0	-10.7334	20.8403	0.99726	0.0:0.0:1.0:0.0	.	85;85	A7E242;Q13023	.;AKAP6_HUMAN	Q	85	ENSP00000280979:R85Q;ENSP00000450531:R85Q;ENSP00000451247:R85Q	ENSP00000280979:R85Q	R	+	2	0	AKAP6	31972704	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	6.744000	0.74854	2.932000	0.99384	0.644000	0.83932	CGA		0.502	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2		NM_004274		20	17	0	0	0	0.007413	0	20	17		
CALM1	801	broad.mit.edu	37	14	90867659	90867659	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr14:90867659A>G	ENST00000356978.4	+	3	339	c.91A>G	c.(91-93)Aag>Gag	p.K31E	RP11-471B22.2_ENST00000555853.1_RNA|CALM1_ENST00000553542.1_5'UTR|CALM1_ENST00000544280.2_5'UTR|CALM1_ENST00000447653.3_Missense_Mutation_p.K32E	NM_006888.4	NP_008819.1	P62158	CALM_HUMAN	calmodulin 1 (phosphorylase kinase, delta)	31	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|detection of calcium ion (GO:0005513)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide metabolic process (GO:0046209)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cyclic nucleotide metabolic process (GO:0030801)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cytokinesis (GO:0032465)|regulation of heart rate (GO:0002027)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcomere (GO:0030017)|spindle microtubule (GO:0005876)|spindle pole (GO:0000922)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|N-terminal myristoylation domain binding (GO:0031997)|nitric-oxide synthase regulator activity (GO:0030235)|phospholipase binding (GO:0043274)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|protein phosphatase activator activity (GO:0072542)|protein serine/threonine kinase activator activity (GO:0043539)|thioesterase binding (GO:0031996)|titin binding (GO:0031432)	p.K31E(1)		central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	10		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.208)	Aprindine(DB01429)|Bepridil(DB01244)|Chlorpromazine(DB00477)|Cinchocaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Melatonin(DB01065)|Nicardipine(DB00622)|Nifedipine(DB01115)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)|Trifluoperazine(DB00831)	CATCACAACAAAGGAACTTGG	0.413																																						uc001xyl.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(91-93)AAG>GAG		calmodulin 1 isoform 1	Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)						157.0	137.0	143.0					14																	90867659		2203	4300	6503	SO:0001583	missense	801				activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding	g.chr14:90867659A>G		CCDS9892.1	14q32.11	2013-02-25			ENSG00000198668	ENSG00000198668	2.7.11.19	"""EF-hand domain containing"", ""Endogenous ligands"""	1442	protein-coding gene	gene with protein product	"""prepro-calmodulin 1"""	114180		CALML2		6385987	Standard	NM_006888		Approved	CAMI, PHKD, DD132	uc001xyl.2	P62158	OTTHUMG00000171044	ENST00000356978.4:c.91A>G	14.37:g.90867659A>G	ENSP00000349467:p.Lys31Glu					CALM1_uc010atq.1_Missense_Mutation_p.K32E|CALM1_uc010atr.1_RNA|CALM1_uc001xym.1_5'UTR	p.K31E	NM_006888	NP_008819	P62158	CALM_HUMAN		COAD - Colon adenocarcinoma(157;0.208)	3	293	+		all_cancers(154;0.13)	31			1.|EF-hand 1.		P02593|P70667|P99014|Q13942|Q53S29|Q61379|Q61380|Q96HK3	Missense_Mutation	SNP	ENST00000356978.4	37	c.91A>G	CCDS9892.1	.	.	.	.	.	.	.	.	.	.	A	14.90	2.674885	0.47781	.	.	ENSG00000198668	ENST00000356978;ENST00000447653	D;D	0.84146	-1.81;-1.81	4.62	4.62	0.57501	EF-hand-like domain (1);	0.000000	0.85682	U	0.000000	T	0.81772	0.4893	.	.	.	0.80722	D	1	B;B	0.13145	0.002;0.007	B;B	0.21360	0.031;0.034	T	0.80032	-0.1552	9	0.87932	D	0	.	14.3188	0.66470	1.0:0.0:0.0:0.0	.	32;31	E7ETZ0;P62158	.;CALM_HUMAN	E	31;32	ENSP00000349467:K31E;ENSP00000403491:K32E	ENSP00000349467:K31E	K	+	1	0	CALM1	89937412	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	1.848000	0.53677	0.455000	0.32223	AAG		0.413	CALM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411346.1				56	27	0	0	0	0.01441	0	56	27		
UNC79	57578	broad.mit.edu	37	14	94088400	94088400	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr14:94088400G>A	ENST00000393151.2	+	30	4821	c.4821G>A	c.(4819-4821)ctG>ctA	p.L1607L	UNC79_ENST00000555664.1_Silent_p.L1607L|UNC79_ENST00000553484.1_Silent_p.L1629L|UNC79_ENST00000256339.4_Silent_p.L1430L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1607					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L1430L(1)|p.L1629L(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ATTTAGATCTGATAGATCTAT	0.473																																						uc001ybv.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(10)|skin(4)|large_intestine(3)	17						c.(4354-4356)CTG>CTA		hypothetical protein LOC57578							70.0	74.0	73.0					14																	94088400		2203	4300	6503	SO:0001819	synonymous_variant	57578					integral to membrane		g.chr14:94088400G>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.4821G>A	14.37:g.94088400G>A						KIAA1409_uc001ybs.1_Silent_p.L1430L	p.L1452L	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	28	4439	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	1607					B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37	c.4356G>A																																																																																					0.473	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1		XM_028395		13	35	0	0	0	0.013537	0	13	35		
TCL1B	9623	broad.mit.edu	37	14	96152883	96152883	+	Missense_Mutation	SNP	G	G	A	rs201542434		TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr14:96152883G>A	ENST00000340722.7	+	1	130	c.79G>A	c.(79-81)Gag>Aag	p.E27K	RP11-1070N10.6_ENST00000461160.1_RNA	NM_004918.3	NP_004909.1	O95988	TCL1B_HUMAN	T-cell leukemia/lymphoma 1B	27								p.E27K(1)		cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		CTACGAAGATGAGGAGGGGAG	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		10740	0.0		0.001	False		,,,				2504	0.0					uc001yez.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(79-81)GAG>AAG		T-cell leukemia/lymphoma 1B							100.0	94.0	96.0					14																	96152883		2203	4300	6503	SO:0001583	missense	9623							g.chr14:96152883G>A	AB018563	CCDS32151.1	14q32.1	2008-09-05			ENSG00000213231	ENSG00000213231			11649	protein-coding gene	gene with protein product		603769				10077617	Standard	NM_004918		Approved	TML1	uc001yez.3	O95988	OTTHUMG00000028912	ENST00000340722.7:c.79G>A	14.37:g.96152883G>A	ENSP00000343223:p.Glu27Lys					TCL1B_uc001yew.2_Intron|TCL1B_uc001yex.2_Intron|TCL1B_uc010avj.2_Intron|TCL1B_uc001yfa.2_Missense_Mutation_p.E27K	p.E27K	NM_004918	NP_004909	O95988	TCL1B_HUMAN		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)	1	121	+		all_cancers(154;0.103)	27					A6NEK7|Q6IAR7|Q9UBQ4	Missense_Mutation	SNP	ENST00000340722.7	37	c.79G>A	CCDS32151.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	15.81	2.942435	0.53079	.	.	ENSG00000213231	ENST00000340722;ENST00000538038	T	0.56103	0.48	2.78	1.84	0.25277	.	.	.	.	.	T	0.62368	0.2422	M	0.79123	2.44	0.09310	N	1	D	0.61697	0.99	P	0.54238	0.746	T	0.52749	-0.8534	9	0.87932	D	0	.	7.5287	0.27671	0.0:0.2673:0.7327:0.0	.	27	O95988	TCL1B_HUMAN	K	27	ENSP00000343223:E27K	ENSP00000343223:E27K	E	+	1	0	TCL1B	95222636	0.121000	0.22262	0.168000	0.22838	0.003000	0.03518	1.402000	0.34600	0.703000	0.31848	0.455000	0.32223	GAG		0.642	TCL1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315123.2				22	25	0	0	0	0.012319	0	22	25		
PACS2	23241	broad.mit.edu	37	14	105859633	105859633	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr14:105859633C>G	ENST00000325438.8	+	23	3016	c.2512C>G	c.(2512-2514)Ctc>Gtc	p.L838V	PACS2_ENST00000447393.1_Missense_Mutation_p.L842V|PACS2_ENST00000458164.2_Missense_Mutation_p.L853V|PACS2_ENST00000430725.2_Missense_Mutation_p.L763V|PACS2_ENST00000547217.1_Missense_Mutation_p.L808V|PACS2_ENST00000551743.1_Missense_Mutation_p.L352V|PACS2_ENST00000551801.1_Missense_Mutation_p.L39V			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	838					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)		p.L838V(1)		endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		CATCAGCCGGCTCATCTGCAC	0.602																																						uc001yqt.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(1)	1						c.(2512-2514)CTC>GTC		phosphofurin acidic cluster sorting protein 2							85.0	70.0	75.0					14																	105859633		2202	4300	6502	SO:0001583	missense	23241				apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion		g.chr14:105859633C>G	AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"""phosphofurin acidic cluster sorting protein 1-like"""	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.2512C>G	14.37:g.105859633C>G	ENSP00000321834:p.Leu838Val					PACS2_uc001yqs.2_Missense_Mutation_p.L763V|PACS2_uc001yqv.2_Missense_Mutation_p.L842V|PACS2_uc001yqu.2_Missense_Mutation_p.L853V	p.L838V	NM_015197	NP_056012	Q86VP3	PACS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)	23	2687	+		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	838					A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	Missense_Mutation	SNP	ENST00000325438.8	37	c.2512C>G	CCDS32168.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.469356	0.63625	.	.	ENSG00000179364	ENST00000430725;ENST00000325438;ENST00000458164;ENST00000447393;ENST00000547217;ENST00000551743;ENST00000551801	T;T;T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29;0.29;0.29	4.28	3.08	0.35506	.	0.000000	0.64402	D	0.000003	T	0.74245	0.3691	M	0.86740	2.835	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;0.998	D;D;D;D	0.91635	0.999;0.999;0.999;0.991	T	0.76435	-0.2960	10	0.87932	D	0	-28.1638	6.7612	0.23542	0.0:0.7782:0.0:0.2218	.	842;853;838;839	E9PB38;Q86VP3-2;Q86VP3;Q86VP3-3	.;.;PACS2_HUMAN;.	V	763;838;853;842;808;352;39	ENSP00000393524:L763V;ENSP00000321834:L838V;ENSP00000399732:L853V;ENSP00000393559:L842V;ENSP00000449525:L808V;ENSP00000449254:L352V;ENSP00000447544:L39V	ENSP00000321834:L838V	L	+	1	0	PACS2	104930678	0.156000	0.22821	0.989000	0.46669	0.796000	0.44982	0.722000	0.25925	2.089000	0.63090	0.462000	0.41574	CTC		0.602	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000409209.1		XM_377355		16	23	0	0	0	0.00499	0	16	23		
OTUD7A	161725	broad.mit.edu	37	15	31862286	31862286	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr15:31862286C>T	ENST00000307050.4	-	2	358	c.266G>A	c.(265-267)cGa>cAa	p.R89Q	OTUD7A_ENST00000382902.1_Missense_Mutation_p.R89Q	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	89					protein K11-linked deubiquitination (GO:0035871)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.R89Q(1)		endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		CTGTGGCTCTCGCTCTGGCTG	0.642																																						uc001zfq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(1)|skin(1)	2						c.(265-267)CGA>CAA		OTU domain containing 7A							65.0	59.0	61.0					15																	31862286		2201	4300	6501	SO:0001583	missense	161725					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding	g.chr15:31862286C>T	AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918		"""OTU domain containing"""	20718	protein-coding gene	gene with protein product		612024	"""chromosome 15 open reading frame 16"", ""OTU domain containing 7"", ""OTU domain containing 7A"""	C15orf16, OTUD7		23827681	Standard	NM_130901		Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.266G>A	15.37:g.31862286C>T	ENSP00000305926:p.Arg89Gln					OTUD7A_uc001zfr.2_Missense_Mutation_p.R89Q|OTUD7A_uc001zfs.1_RNA|OTUD7A_uc010baa.1_Missense_Mutation_p.R89Q	p.R89Q	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)	2	359	-		all_lung(180;1.6e-09)	89					Q8IWK5	Missense_Mutation	SNP	ENST00000307050.4	37	c.266G>A	CCDS10026.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799206	0.70567	.	.	ENSG00000169918	ENST00000307050;ENST00000382902	T;T	0.30981	1.51;1.51	5.28	3.37	0.38596	.	0.529823	0.19151	N	0.121459	T	0.22044	0.0531	L	0.40543	1.245	0.26423	N	0.976071	B;B	0.24132	0.098;0.059	B;B	0.14578	0.011;0.005	T	0.13980	-1.0489	10	0.36615	T	0.2	-0.6117	7.4129	0.27027	0.0:0.7161:0.1382:0.1457	.	89;89	Q8TE49-2;Q8TE49	.;OTU7A_HUMAN	Q	89	ENSP00000305926:R89Q;ENSP00000372358:R89Q	ENSP00000305926:R89Q	R	-	2	0	OTUD7A	29649578	1.000000	0.71417	0.294000	0.24946	0.940000	0.58332	2.838000	0.48199	0.705000	0.31890	0.655000	0.94253	CGA		0.642	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251393.2		NM_130901		3	44	0	0	0	0.004672	0	3	44		
TGM5	9333	broad.mit.edu	37	15	43552715	43552715	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr15:43552715C>T	ENST00000220420.5	-	2	80	c.73G>A	c.(73-75)Gag>Aag	p.E25K	TGM5_ENST00000349114.4_Missense_Mutation_p.E25K	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	25					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.E25K(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	ACAGTGATCTCCTCCGTGTGG	0.582																																						uc001zrd.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(73-75)GAG>AAG		transglutaminase 5 isoform 1	L-Glutamine(DB00130)						116.0	119.0	118.0					15																	43552715		2202	4299	6501	SO:0001583	missense	9333				epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43552715C>T	AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"""Transglutaminases"""	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.73G>A	15.37:g.43552715C>T	ENSP00000220420:p.Glu25Lys					TGM5_uc001zre.1_Missense_Mutation_p.E25K	p.E25K	NM_201631	NP_963925	O43548	TGM5_HUMAN		GBM - Glioblastoma multiforme(94;4e-07)	2	81	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)	25					O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	ENST00000220420.5	37	c.73G>A	CCDS32212.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.899395	0.33535	.	.	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	D;D	0.84442	-1.85;-1.85	5.64	4.67	0.58626	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.119115	0.56097	D	0.000022	T	0.80534	0.4641	L	0.35644	1.08	0.09310	N	1	P;P	0.36712	0.493;0.566	B;B	0.40677	0.124;0.337	T	0.71902	-0.4452	10	0.30854	T	0.27	-26.1904	13.7541	0.62926	0.0:0.8448:0.1552:0.0	.	25;25	O43548-2;O43548	.;TGM5_HUMAN	K	25;25;24	ENSP00000220420:E25K;ENSP00000220419:E25K	ENSP00000220420:E25K	E	-	1	0	TGM5	41340007	1.000000	0.71417	0.741000	0.31004	0.011000	0.07611	4.715000	0.61909	2.664000	0.90586	0.555000	0.69702	GAG		0.582	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1		NM_004245		41	77	0	0	0	0.009718	0	41	77		
PARP6	56965	broad.mit.edu	37	15	72552924	72552924	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr15:72552924C>T	ENST00000569795.1	-	10	1338	c.651G>A	c.(649-651)atG>atA	p.M217I	PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000287196.9_Missense_Mutation_p.M217I|PARP6_ENST00000260376.7_Missense_Mutation_p.M217I			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	217							NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.M217I(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						TGGGGTTCTTCATGGTACAGG	0.587																																						uc002auc.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(649-651)ATG>ATA		poly (ADP-ribose) polymerase family, member 6							338.0	335.0	336.0					15																	72552924		1919	4121	6040	SO:0001583	missense	56965						NAD+ ADP-ribosyltransferase activity	g.chr15:72552924C>T	AL390093	CCDS10241.2	15q22	2010-02-16			ENSG00000137817	ENSG00000137817		"""Poly (ADP-ribose) polymerases"""	26921	protein-coding gene	gene with protein product						15273990	Standard	XM_005254557		Approved	pART17	uc002auc.3	Q2NL67	OTTHUMG00000133443	ENST00000569795.1:c.651G>A	15.37:g.72552924C>T	ENSP00000456348:p.Met217Ile					PARP6_uc002aua.2_Missense_Mutation_p.M82I|PARP6_uc002aub.2_RNA|PARP6_uc002aud.3_RNA|PARP6_uc002auf.1_Missense_Mutation_p.M217I	p.M217I	NM_020214	NP_064599	Q2NL67	PARP6_HUMAN			9	1110	-			217					Q9H7C5|Q9H9X6|Q9HAF3|Q9NPS6|Q9UFG4	Missense_Mutation	SNP	ENST00000569795.1	37	c.651G>A	CCDS10241.2	.	.	.	.	.	.	.	.	.	.	C	9.809	1.182550	0.21870	.	.	ENSG00000137817	ENST00000419739;ENST00000287196;ENST00000260376;ENST00000413097;ENST00000544520;ENST00000336471	.	.	.	4.93	4.93	0.64822	.	0.196102	0.53938	D	0.000058	T	0.32010	0.0815	N	0.12182	0.205	0.37347	D	0.910633	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.25502	-1.0130	9	0.23302	T	0.38	-21.8181	10.7322	0.46104	0.0:0.9131:0.0:0.0869	.	217;217;169	Q0VDG0;Q2NL67;A0PJ50	.;PARP6_HUMAN;.	I	217;217;217;82;82;217	.	ENSP00000260376:M217I	M	-	3	0	PARP6	70339978	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	5.673000	0.68109	2.277000	0.76020	0.585000	0.79938	ATG		0.587	PARP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257315.2		NM_020214		202	349	0	0	0	0.01441	0	202	349		
CCDC33	80125	broad.mit.edu	37	15	74588272	74588272	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr15:74588272G>A	ENST00000398814.3	+	11	1704	c.1273G>A	c.(1273-1275)Gag>Aag	p.E425K	CCDC33_ENST00000321288.5_Missense_Mutation_p.E628K|CCDC33_ENST00000563951.1_3'UTR	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	628								p.E425K(1)|p.E628K(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TCTGGTGCCTGAGATGTCCCA	0.587																																						uc002axo.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(3)|skin(2)	5						c.(1273-1275)GAG>AAG		coiled-coil domain containing 33 isoform 1							47.0	49.0	48.0					15																	74588272		2079	4204	6283	SO:0001583	missense	80125						protein binding	g.chr15:74588272G>A	BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"""cancer/testis antigen 61"""					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000398814.3:c.1273G>A	15.37:g.74588272G>A	ENSP00000381795:p.Glu425Lys					CCDC33_uc002axp.2_Missense_Mutation_p.E247K	p.E425K	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN			11	1667	+			628					A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Missense_Mutation	SNP	ENST00000398814.3	37	c.1273G>A	CCDS42058.1	.	.	.	.	.	.	.	.	.	.	G	7.097	0.573398	0.13623	.	.	ENSG00000140481	ENST00000321288;ENST00000398814	T;T	0.35421	1.31;2.35	3.72	1.47	0.22746	.	1.460060	0.04392	N	0.362596	T	0.25865	0.0630	L	0.40543	1.245	0.09310	N	1	B;B	0.14438	0.01;0.002	B;B	0.08055	0.003;0.003	T	0.17837	-1.0356	10	0.06236	T	0.91	.	5.4791	0.16713	0.1336:0.2317:0.6347:0.0	.	628;425	C9JFX2;Q8N5R6-6	.;.	K	628;425	ENSP00000325012:E628K;ENSP00000381795:E425K	ENSP00000325012:E628K	E	+	1	0	CCDC33	72375325	0.002000	0.14202	0.000000	0.03702	0.007000	0.05969	1.259000	0.32956	0.187000	0.20147	0.561000	0.74099	GAG		0.587	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419491.2		NM_182791		7	12	0	0	0	0.001984	0	7	12		
SH3GL3	6457	broad.mit.edu	37	15	84233946	84233946	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr15:84233946C>A	ENST00000427482.2	+	3	481	c.175C>A	c.(175-177)Cag>Aag	p.Q59K	SH3GL3_ENST00000434347.1_Missense_Mutation_p.Q67K|SH3GL3_ENST00000324537.5_Missense_Mutation_p.Q67K|SH3GL3_ENST00000535412.1_Missense_Mutation_p.Q59K	NM_003027.3	NP_003018.3	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	59	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)	p.Q67K(1)		central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						TGAATATCTTCAGCCAAATCC	0.294																																						uc002bjw.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(1)|central_nervous_system(1)|skin(1)	3						c.(175-177)CAG>AAG		SH3-domain GRB2-like 3							79.0	80.0	80.0					15																	84233946		2201	4299	6500	SO:0001583	missense	6457				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding	g.chr15:84233946C>A	AF036271	CCDS10325.2, CCDS73772.1	15q24	2006-11-24			ENSG00000140600	ENSG00000140600			10832	protein-coding gene	gene with protein product		603362				9169142	Standard	NR_026799		Approved	SH3D2C, SH3P13, CNSA3, EEN-B2, HsT19371	uc002bjw.3	Q99963	OTTHUMG00000147361	ENST00000427482.2:c.175C>A	15.37:g.84233946C>A	ENSP00000391372:p.Gln59Lys					SH3GL3_uc010bms.2_Missense_Mutation_p.Q59K|SH3GL3_uc010uot.1_Missense_Mutation_p.Q59K|SH3GL3_uc002bjx.2_5'UTR|SH3GL3_uc002bju.2_Missense_Mutation_p.Q67K|SH3GL3_uc002bjv.2_RNA	p.Q59K	NM_003027	NP_003018	Q99963	SH3G3_HUMAN			3	370	+			59			BAR.		O43553|O43554	Missense_Mutation	SNP	ENST00000427482.2	37	c.175C>A	CCDS10325.2	.	.	.	.	.	.	.	.	.	.	C	28.9	4.961483	0.92791	.	.	ENSG00000140600	ENST00000427482;ENST00000535412;ENST00000324537;ENST00000434347	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.27	5.27	0.74061	BAR (3);	0.000000	0.85682	D	0.000000	D	0.84964	0.5589	M	0.90595	3.13	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;0.998	D	0.85825	0.1388	10	0.38643	T	0.18	-21.4255	17.892	0.88875	0.0:1.0:0.0:0.0	.	59;59;59;67	Q8IVP1;Q99963-4;Q99963;Q99963-3	.;.;SH3G3_HUMAN;.	K	59;59;67;67	ENSP00000391372:Q59K;ENSP00000439239:Q59K;ENSP00000320092:Q67K;ENSP00000397871:Q67K	ENSP00000320092:Q67K	Q	+	1	0	SH3GL3	82024950	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.452000	0.80683	2.457000	0.83068	0.655000	0.94253	CAG		0.294	SH3GL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347797.1		NM_003027		16	34	1	0	1.99824e-07	0.00499	2.11868e-07	16	34		
ACAN	176	broad.mit.edu	37	15	89379446	89379446	+	Silent	SNP	T	T	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr15:89379446T>A	ENST00000561243.1	+	1	9	c.9T>A	c.(7-9)acT>acA	p.T3T	ACAN_ENST00000352105.7_Silent_p.T3T|ACAN_ENST00000439576.2_Silent_p.T3T|ACAN_ENST00000559004.1_Silent_p.T3T|ACAN_ENST00000558207.1_Silent_p.T3T			P16112	PGCA_HUMAN	aggrecan	3					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)	p.T3T(2)		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)			CTATGACCACTTTACTCTGGG	0.468																																						uc010upo.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(2)|central_nervous_system(1)	3						c.(7-9)ACT>ACA		aggrecan isoform 2 precursor							101.0	99.0	99.0					15																	89379446		2026	4186	6212	SO:0001819	synonymous_variant	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89379446T>A	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.9T>A	15.37:g.89379446T>A						ACAN_uc002bmx.2_Silent_p.T3T|ACAN_uc010upp.1_Silent_p.T3T|ACAN_uc002bna.2_RNA	p.T3T	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		2	383	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		3					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Silent	SNP	ENST00000561243.1	37	c.9T>A	CCDS53970.1																																																																																				0.468	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2		NM_001135		4	14	0	0	0	0.009096	0	4	14		
RHBDL1	9028	broad.mit.edu	37	16	726483	726483	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr16:726483G>A	ENST00000219551.2	+	1	409	c.382G>A	c.(382-384)Gag>Aag	p.E128K	LA16c-313D11.9_ENST00000571933.1_RNA|RHBDL1_ENST00000352681.3_Missense_Mutation_p.E63K|LA16c-313D11.9_ENST00000567091.1_RNA			O75783	RHBL1_HUMAN	rhomboid, veinlet-like 1 (Drosophila)	128					signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)	p.E128K(1)		endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9		Hepatocellular(780;0.0218)				CTGCTACCAGGAGCTGGTGGA	0.706																																						uc002cis.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(382-384)GAG>AAG		rhomboid protease 1							13.0	14.0	14.0					16																	726483		2181	4279	6460	SO:0001583	missense	9028				proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity	g.chr16:726483G>A	Y17108	CCDS61779.1	16p13.3	2008-02-05	2001-11-28	2003-04-11	ENSG00000103269	ENSG00000103269			10007	protein-coding gene	gene with protein product		603264	"""rhomboid (veinlet, Drosophila)-like"""	RHBDL		9662444	Standard	NM_001278720		Approved	RRP	uc002cis.1	O75783	OTTHUMG00000121141	ENST00000219551.2:c.382G>A	16.37:g.726483G>A	ENSP00000219551:p.Glu128Lys					RHBDL1_uc002cir.1_Missense_Mutation_p.E63K|RHBDL1_uc010uun.1_Missense_Mutation_p.E63K	p.E128K	NM_003961	NP_003952	O75783	RHBL1_HUMAN			1	409	+		Hepatocellular(780;0.0218)	128					A2IDC0|A2IDC1|Q0VAX4|Q9NQ85	Missense_Mutation	SNP	ENST00000219551.2	37	c.382G>A	CCDS10418.1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.962155	0.34659	.	.	ENSG00000103269	ENST00000352681;ENST00000450775;ENST00000219551	T;T	0.56275	0.47;0.47	4.48	3.48	0.39840	EF-hand-like domain (1);	0.093191	0.40385	N	0.001103	T	0.40719	0.1128	N	0.19112	0.55	0.40818	D	0.983485	B;B;B	0.32573	0.376;0.376;0.239	B;B;B	0.36845	0.164;0.114;0.234	T	0.44345	-0.9334	10	0.72032	D	0.01	-21.1387	12.7672	0.57399	0.0:0.1669:0.8331:0.0	.	63;128;63	B4DFK3;O75783;O75783-2	.;RHBL1_HUMAN;.	K	63;63;128	ENSP00000344206:E63K;ENSP00000219551:E128K	ENSP00000219551:E128K	E	+	1	0	RHBDL1	666484	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.217000	0.77982	0.826000	0.34661	0.462000	0.41574	GAG		0.706	RHBDL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000241619.1		NM_003961		9	9	0	0	0	0.013537	0	9	9		
RHBDL1	9028	broad.mit.edu	37	16	726497	726497	+	Splice_Site	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr16:726497G>A	ENST00000219551.2	+	1	423	c.396G>A	c.(394-396)ctG>ctA	p.L132L	LA16c-313D11.9_ENST00000571933.1_RNA|RHBDL1_ENST00000352681.3_Splice_Site_p.L67L|LA16c-313D11.9_ENST00000567091.1_RNA			O75783	RHBL1_HUMAN	rhomboid, veinlet-like 1 (Drosophila)	132					signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)	p.L132L(1)		endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9		Hepatocellular(780;0.0218)				TGGTGGACCTGGTCAGTGCCA	0.706																																						uc002cis.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(394-396)CTG>CTA		rhomboid protease 1							12.0	14.0	13.0					16																	726497		2186	4278	6464	SO:0001630	splice_region_variant	9028				proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity	g.chr16:726497G>A	Y17108	CCDS61779.1	16p13.3	2008-02-05	2001-11-28	2003-04-11	ENSG00000103269	ENSG00000103269			10007	protein-coding gene	gene with protein product		603264	"""rhomboid (veinlet, Drosophila)-like"""	RHBDL		9662444	Standard	NM_001278720		Approved	RRP	uc002cis.1	O75783	OTTHUMG00000121141	ENST00000219551.2:c.396+1G>A	16.37:g.726497G>A						RHBDL1_uc002cir.1_Silent_p.L67L|RHBDL1_uc010uun.1_Silent_p.L67L	p.L132L	NM_003961	NP_003952	O75783	RHBL1_HUMAN			1	423	+		Hepatocellular(780;0.0218)	132					A2IDC0|A2IDC1|Q0VAX4|Q9NQ85	Silent	SNP	ENST00000219551.2	37	c.396G>A	CCDS10418.1																																																																																				0.706	RHBDL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000241619.1		NM_003961	Silent	14	7	0	0	0	0.020292	0	14	7		
BAIAP3	8938	broad.mit.edu	37	16	1398294	1398294	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr16:1398294G>C	ENST00000324385.5	+	33	3610	c.3452G>C	c.(3451-3453)aGa>aCa	p.R1151T	BAIAP3_ENST00000562208.1_Missense_Mutation_p.R1093T|BAIAP3_ENST00000426824.3_Missense_Mutation_p.R1116T|BAIAP3_ENST00000397489.1_Missense_Mutation_p.R1133T|BAIAP3_ENST00000397488.2_Missense_Mutation_p.R1133T|BAIAP3_ENST00000421665.2_Missense_Mutation_p.R1080T|BAIAP3_ENST00000568887.1_Missense_Mutation_p.R1088T	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	1151					G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)	p.R1151T(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				TGCCGGCCCAGAGCCCAGGGT	0.731																																						uc002clk.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(1)	1						c.(3451-3453)AGA>ACA		BAI1-associated protein 3							11.0	15.0	13.0					16																	1398294		2179	4268	6447	SO:0001583	missense	8938				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	g.chr16:1398294G>C	AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.3452G>C	16.37:g.1398294G>C	ENSP00000324510:p.Arg1151Thr					BAIAP3_uc002clj.2_Missense_Mutation_p.R1133T|BAIAP3_uc010uuz.1_Missense_Mutation_p.R1116T|BAIAP3_uc010uva.1_Missense_Mutation_p.R1088T|BAIAP3_uc010uvc.1_Missense_Mutation_p.R1080T	p.R1151T	NM_003933	NP_003924	O94812	BAIP3_HUMAN			33	3452	+		Hepatocellular(780;0.0893)	1151					A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Missense_Mutation	SNP	ENST00000324385.5	37	c.3452G>C	CCDS10434.1	.	.	.	.	.	.	.	.	.	.	G	9.951	1.220147	0.22373	.	.	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	T;T;T;T;T	0.70986	-0.52;-0.52;-0.53;-0.52;-0.51	4.86	2.38	0.29361	.	0.060503	0.64402	D	0.000013	T	0.45498	0.1345	N	0.16903	0.455	0.30749	N	0.745358	B;B;B;B	0.26547	0.152;0.033;0.033;0.033	B;B;B;B	0.24974	0.057;0.028;0.028;0.028	T	0.28004	-1.0057	10	0.21014	T	0.42	-8.51	2.8686	0.05609	0.2452:0.2719:0.4829:0.0	.	1080;1093;1151;1133	E7EUB9;B4DIK3;O94812;A2A2B2	.;.;BAIP3_HUMAN;.	T	1116;1133;1151;1133;1080	ENSP00000407242:R1116T;ENSP00000380625:R1133T;ENSP00000324510:R1151T;ENSP00000380626:R1133T;ENSP00000409533:R1080T	ENSP00000324510:R1151T	R	+	2	0	BAIAP3	1338295	0.007000	0.16637	0.513000	0.27749	0.976000	0.68499	0.670000	0.25157	0.957000	0.37930	0.561000	0.74099	AGA		0.731	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3				2	12	0	0	0	0.004672	0	2	12		
CREBBP	1387	broad.mit.edu	37	16	3820792	3820792	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq;WGS			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr16:3820792G>A	ENST00000262367.5	-	14	3468	c.2659C>T	c.(2659-2661)Cag>Tag	p.Q887*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.Q849*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	887					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.Q887*(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)		GTTGATGGCTGAGTGGGAGCT	0.642			"""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 - Nonsense(1)		urinary_tract(1)	haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127						c.(2659-2661)CAG>TAG		CREB binding protein isoform a							83.0	73.0	76.0					16																	3820792		2197	4300	6497	SO:0001587	stop_gained	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.chr16:3820792G>A	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.2659C>T	16.37:g.3820792G>A	ENSP00000262367:p.Gln887*					CREBBP_uc002cvw.2_Nonsense_Mutation_p.Q849*	p.Q887*	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	14	2863	-		Ovarian(90;0.0266)	887					D3DUC9|O00147|Q16376|Q4LE28	Nonsense_Mutation	SNP	ENST00000262367.5	37	c.2659C>T	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	G	48	14.488944	0.99798	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	.	.	.	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-14.0335	16.4308	0.83841	0.0:0.1312:0.8688:0.0	.	.	.	.	X	887;917;849	.	ENSP00000262367:Q887X	Q	-	1	0	CREBBP	3760793	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	6.943000	0.75934	2.840000	0.97914	0.655000	0.94253	CAG		0.642	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2		NM_004380		40	14	0	0	0	0.025465	0	40	14		
CREBBP	1387	broad.mit.edu	37	16	3820952	3820952	+	Silent	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr16:3820952G>C	ENST00000262367.5	-	14	3308	c.2499C>G	c.(2497-2499)ctC>ctG	p.L833L	CREBBP_ENST00000382070.3_Silent_p.L795L	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	833					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.L833L(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)		CCAGCATGTTGAGAGGGTTAG	0.542			"""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 - coding silent(1)		urinary_tract(1)	haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127						c.(2497-2499)CTC>CTG		CREB binding protein isoform a							84.0	90.0	88.0					16																	3820952		2197	4300	6497	SO:0001819	synonymous_variant	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.chr16:3820952G>C	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.2499C>G	16.37:g.3820952G>C						CREBBP_uc002cvw.2_Silent_p.L795L	p.L833L	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	14	2703	-		Ovarian(90;0.0266)	833					D3DUC9|O00147|Q16376|Q4LE28	Silent	SNP	ENST00000262367.5	37	c.2499C>G	CCDS10509.1																																																																																				0.542	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2		NM_004380		58	27	0	0	0	0.01441	0	58	27		
GLYR1	84656	broad.mit.edu	37	16	4862198	4862198	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr16:4862198G>A	ENST00000321919.9	-	13	1247	c.1171C>T	c.(1171-1173)Cag>Tag	p.Q391*	GLYR1_ENST00000591451.1_Nonsense_Mutation_p.Q385*|GLYR1_ENST00000381983.3_Nonsense_Mutation_p.Q374*|GLYR1_ENST00000436648.5_Nonsense_Mutation_p.Q310*	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	391					pentose-phosphate shunt (GO:0006098)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)	p.Q391*(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						GACAGCTGCTGATTCCCTGAG	0.587																																						uc002cxx.3		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)		0						c.(1171-1173)CAG>TAG		cytokine-like nuclear factor n-pac							60.0	54.0	56.0					16																	4862198		2197	4300	6497	SO:0001587	stop_gained	84656				pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity	g.chr16:4862198G>A	AF244907	CCDS10524.1	16p13.3	2010-02-17			ENSG00000140632	ENSG00000140632			24434	protein-coding gene	gene with protein product	"""nuclear protein 60kDa"""	610660				16352664	Standard	NM_032569		Approved	BM045, HIBDL, NP60, N-PAC	uc002cxx.4	Q49A26	OTTHUMG00000129530	ENST00000321919.9:c.1171C>T	16.37:g.4862198G>A	ENSP00000322716:p.Gln391*					GLYR1_uc002cxy.2_RNA|GLYR1_uc002cxz.1_Nonsense_Mutation_p.Q305*|GLYR1_uc002cya.2_Nonsense_Mutation_p.Q385*|GLYR1_uc010uxv.1_Nonsense_Mutation_p.Q310*	p.Q391*	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN			13	1208	-			391					B4DL47|C9JJ40|C9JJ60|Q5U632|Q6P1Q2|Q6V3W7|Q9BTI1|Q9BXK2	Nonsense_Mutation	SNP	ENST00000321919.9	37	c.1171C>T	CCDS10524.1	.	.	.	.	.	.	.	.	.	.	G	35	5.462234	0.96240	.	.	ENSG00000140632	ENST00000321919;ENST00000381983;ENST00000436648	.	.	.	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.6361	17.2337	0.86992	0.0:0.0:1.0:0.0	.	.	.	.	X	391;374;310	.	ENSP00000322716:Q391X	Q	-	1	0	GLYR1	4802199	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.154000	0.94694	2.667000	0.90743	0.655000	0.94253	CAG		0.587	GLYR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251717.2		NM_032569		4	24	0	0	0	0.009096	0	4	24		
MKL2	57496	broad.mit.edu	37	16	14340888	14340888	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr16:14340888G>C	ENST00000341243.5	+	10	1738	c.1738G>C	c.(1738-1740)Gag>Cag	p.E580Q	MKL2_ENST00000318282.5_Missense_Mutation_p.E591Q|MKL2_ENST00000574045.1_Missense_Mutation_p.E591Q|MKL2_ENST00000571589.1_Missense_Mutation_p.E591Q			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	580	Required for interaction with itself and with MKL1.				blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.E591Q(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACTGGAACAAGAGCAGAAGCT	0.532																																						uc010uza.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|kidney(1)|pancreas(1)	5						c.(1771-1773)GAG>CAG		megakaryoblastic leukemia 2 protein							36.0	38.0	37.0					16																	14340888		2197	4300	6497	SO:0001583	missense	57496				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	g.chr16:14340888G>C	AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.1738G>C	16.37:g.14340888G>C	ENSP00000345841:p.Glu580Gln					MKL2_uc002dcg.2_Missense_Mutation_p.E591Q|MKL2_uc002dcj.2_5'Flank	p.E591Q	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN			12	1926	+			580			Required for interaction with itself and with MKL1.|Potential.		A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	ENST00000341243.5	37	c.1771G>C		.	.	.	.	.	.	.	.	.	.	G	31	5.085934	0.94100	.	.	ENSG00000186260	ENST00000318282;ENST00000341243	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.83885	0.5351	M	0.83223	2.63	0.58432	D	0.999998	D;D	0.89917	1.0;0.998	D;D	0.83275	0.996;0.994	D	0.84236	0.0469	9	0.52906	T	0.07	-29.4734	19.0942	0.93242	0.0:0.0:1.0:0.0	.	591;591	B4DGT8;Q9ULH7-4	.;.	Q	591;580	.	ENSP00000339086:E591Q	E	+	1	0	MKL2	14248389	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.807000	0.99171	2.758000	0.94735	0.655000	0.94253	GAG		0.532	MKL2-202	KNOWN	basic	protein_coding	protein_coding			NM_014048		7	38	0	0	0	0.00308	0	7	38		
PALB2	79728	broad.mit.edu	37	16	23646501	23646501	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr16:23646501C>G	ENST00000261584.4	-	4	1518	c.1366G>C	c.(1366-1368)Gag>Cag	p.E456Q		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	456	DNA-binding (with the preference D loop > dsDNA > ssDNA).				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E456Q(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TCAGTTTCCTCATTGGAAAGG	0.378			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks																														uc002dlx.1		NaN	yes	Rec		"""Fanconi anaemia N, breast cancer susceptibility """	16	16p12.1	79728	F|N|Mis	partner and localizer of BRCA2			"""L, O, E"""		Wilms tumor|medulloblastoma|AML ,breast			1	Substitution - Missense(1)		urinary_tract(1)	lung(3)|breast(3)|ovary(2)|skin(1)|kidney(1)|pancreas(1)	11						c.(1366-1368)GAG>CAG	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	partner and localizer of BRCA2							78.0	82.0	81.0					16																	23646501		2197	4300	6497	SO:0001583	missense	79728	Fanconi_Anemia_type_N|Fanconi_Anemia|PALB2-associated_Familial_Breast_and_Pancreatic_Cancer|Pancreatic_Cancer_Familial_Clustering_of			double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	g.chr16:23646501C>G		CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"""Fanconi anemia, complementation groups"""	26144	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group N"""	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.1366G>C	16.37:g.23646501C>G	ENSP00000261584:p.Glu456Gln						p.E456Q	NM_024675	NP_078951	Q86YC2	PALB2_HUMAN		GBM - Glioblastoma multiforme(48;0.0167)	4	1566	-			456					A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Missense_Mutation	SNP	ENST00000261584.4	37	c.1366G>C	CCDS32406.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.090718	0.36855	.	.	ENSG00000083093	ENST00000261584	T	0.15256	2.44	5.67	2.33	0.28932	.	0.281932	0.31051	N	0.008357	T	0.11623	0.0283	L	0.48877	1.53	0.09310	N	1	P	0.41673	0.759	B	0.37692	0.256	T	0.14504	-1.0470	10	0.20046	T	0.44	-6.2956	5.2343	0.15439	0.0:0.5993:0.2137:0.187	.	456	Q86YC2	PALB2_HUMAN	Q	456	ENSP00000261584:E456Q	ENSP00000261584:E456Q	E	-	1	0	PALB2	23554002	0.871000	0.30034	0.028000	0.17463	0.996000	0.88848	1.324000	0.33712	0.864000	0.35578	0.655000	0.94253	GAG		0.378	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2		NM_024675		33	86	0	0	0	0.013726	0	33	86		
ATP2A1	487	broad.mit.edu	37	16	28893844	28893844	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr16:28893844G>A	ENST00000357084.3	+	5	664	c.397G>A	c.(397-399)Gac>Aac	p.D133N	RP11-22P6.3_ENST00000561547.1_RNA|RP11-22P6.3_ENST00000566956.1_RNA|SNORA43_ENST00000516652.1_RNA|ATP2A1_ENST00000536376.1_Missense_Mutation_p.D8N|ATP2A1_ENST00000395503.4_Missense_Mutation_p.D133N	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	133					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)	p.D133N(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CTACCGGGCTGACCGCAAGTC	0.627																																						uc002dro.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(397-399)GAC>AAC		ATPase, Ca++ transporting, fast twitch 1 isoform							132.0	95.0	107.0					16																	28893844		2197	4300	6497	SO:0001583	missense	487				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	g.chr16:28893844G>A		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.397G>A	16.37:g.28893844G>A	ENSP00000349595:p.Asp133Asn					uc010vct.1_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.D133N|ATP2A1_uc002drp.1_Missense_Mutation_p.D8N	p.D133N	NM_173201	NP_775293	O14983	AT2A1_HUMAN			5	581	+			133			Cytoplasmic (By similarity).		A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	ENST00000357084.3	37	c.397G>A	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	g	18.72	3.684790	0.68157	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.89875	-2.58;-2.58;-2.34	5.14	5.14	0.70334	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.83450	0.5257	N	0.25094	0.71	0.58432	D	0.999997	B;B;B	0.11235	0.004;0.0;0.001	B;B;B	0.17433	0.011;0.002;0.018	T	0.79376	-0.1829	10	0.54805	T	0.06	.	17.3617	0.87353	0.0:0.0:1.0:0.0	.	8;133;133	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	N	133;133;170;8	ENSP00000349595:D133N;ENSP00000378879:D133N;ENSP00000443101:D8N	ENSP00000349595:D133N	D	+	1	0	ATP2A1	28801345	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	9.410000	0.97335	2.398000	0.81561	0.558000	0.71614	GAC		0.627	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2		NM_004320		14	44	0	0	0	0.020292	0	14	44		
CD19	930	broad.mit.edu	37	16	28950083	28950083	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr16:28950083G>A	ENST00000324662.3	+	13	1617	c.1573G>A	c.(1573-1575)Gag>Aag	p.E525K	CD19_ENST00000567541.1_Missense_Mutation_p.E526K|CD19_ENST00000538922.1_Missense_Mutation_p.E526K			P15391	CD19_HUMAN	CD19 molecule	525					B cell receptor signaling pathway (GO:0050853)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)	p.E525K(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						ACCCAATCATGAGGAAGGTGG	0.622																																						uc002drs.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)	3						c.(1573-1575)GAG>AAG		CD19 antigen precursor							63.0	59.0	60.0					16																	28950083		2197	4300	6497	SO:0001583	missense	930				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity	g.chr16:28950083G>A		CCDS10644.1, CCDS53998.1	16p11.2	2014-09-17	2006-03-28		ENSG00000177455	ENSG00000177455		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1633	protein-coding gene	gene with protein product		107265	"""CD19 antigen"""				Standard	NM_001770		Approved		uc010byo.2	P15391	OTTHUMG00000097049	ENST00000324662.3:c.1573G>A	16.37:g.28950083G>A	ENSP00000313419:p.Glu525Lys					uc010vct.1_Intron|CD19_uc010byo.1_Missense_Mutation_p.E526K	p.E525K	NM_001770	NP_001761	P15391	CD19_HUMAN			13	1635	+			525			Cytoplasmic (Potential).		A0N0P9|F5H635|Q96S68|Q9BRD6	Missense_Mutation	SNP	ENST00000324662.3	37	c.1573G>A	CCDS10644.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.403563	0.83230	.	.	ENSG00000177455	ENST00000538922;ENST00000380673;ENST00000324662;ENST00000537306	T;T	0.55234	0.53;0.53	5.09	5.09	0.68999	.	0.000000	0.47093	D	0.000253	T	0.63307	0.2500	L	0.36672	1.1	0.40299	D	0.978583	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.67011	-0.5778	10	0.87932	D	0	-26.8154	14.3735	0.66857	0.0:0.0:1.0:0.0	.	526;525	F5H635;P15391	.;CD19_HUMAN	K	526;332;525;374	ENSP00000437940:E526K;ENSP00000313419:E525K	ENSP00000313419:E525K	E	+	1	0	CD19	28857584	1.000000	0.71417	0.996000	0.52242	0.844000	0.47949	4.356000	0.59430	2.524000	0.85096	0.591000	0.81541	GAG		0.622	CD19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214152.2				21	31	0	0	0	0.014323	0	21	31		
PPP4C	5531	broad.mit.edu	37	16	30092610	30092610	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr16:30092610G>A	ENST00000279387.7	+	3	297	c.129G>A	c.(127-129)caG>caA	p.Q43Q	PPP4C_ENST00000561610.1_Silent_p.Q43Q	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	43					dephosphorylation (GO:0016311)|NIK/NF-kappaB signaling (GO:0038061)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein phosphatase 4 complex (GO:0030289)	metal ion binding (GO:0046872)|NF-kappaB-inducing kinase activity (GO:0004704)|protein serine/threonine phosphatase activity (GO:0004722)	p.Q43Q(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						GCAACGTGCAGAGGGTGGACT	0.567																																						uc002dwe.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(1)	1						c.(127-129)CAG>CAA		protein phosphatase 4, catalytic subunit							126.0	113.0	117.0					16																	30092610		2197	4300	6497	SO:0001819	synonymous_variant	5531				microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity	g.chr16:30092610G>A		CCDS10669.1	16p11.2	2010-03-17	2010-03-05		ENSG00000149923	ENSG00000149923	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9319	protein-coding gene	gene with protein product	"""protein phosphatase X, catalytic subunit"""	602035	"""protein phosphatase 4 (formerly X), catalytic subunit"""			9177794	Standard	NM_002720		Approved	PP4, PPX	uc002dwf.3	P60510	OTTHUMG00000132113	ENST00000279387.7:c.129G>A	16.37:g.30092610G>A						uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|PPP4C_uc002dwf.2_Silent_p.Q43Q|PPP4C_uc002dwg.2_RNA|PPP4C_uc002dwh.2_Intron	p.Q43Q	NM_002720	NP_002711	P60510	PP4C_HUMAN			3	273	+			43					P33172	Silent	SNP	ENST00000279387.7	37	c.129G>A	CCDS10669.1																																																																																				0.567	PPP4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255155.2		NM_002720		7	110	0	0	0	0.001984	0	7	110		
ITFG1	81533	broad.mit.edu	37	16	47347638	47347638	+	Splice_Site	SNP	A	A	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr16:47347638A>G	ENST00000320640.6	-	9	1126		c.e9+1		ITFG1_ENST00000568047.1_5'Flank|ITFG1_ENST00000544001.2_Splice_Site|Y_RNA_ENST00000410835.1_RNA|RP11-474B12.1_ENST00000564739.1_RNA	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1							extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.?(1)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				AACTTGATATACCTGCTTCAT	0.363																																						uc002eet.2		NaN																	1	Unknown(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.e9+1		integrin alpha FG-GAP repeat containing 1							106.0	94.0	98.0					16																	47347638		2202	4300	6502	SO:0001630	splice_region_variant	81533					extracellular region|integral to membrane		g.chr16:47347638A>G	AF503339	CCDS10728.1	16q12.1	2008-02-05			ENSG00000129636	ENSG00000129636			30697	protein-coding gene	gene with protein product	"""T cell immunomodulatory protein"""	611803				12598909	Standard	NM_030790		Approved	CDA08, TIP	uc002eet.3	Q8TB96	OTTHUMG00000133103	ENST00000320640.6:c.897+1T>C	16.37:g.47347638A>G						ITFG1_uc010vgg.1_Splice_Site_p.Q44_splice|ITFG1_uc010vgh.1_Splice_Site_p.Q186_splice	p.Q299_splice	NM_030790	NP_110417	Q8TB96	TIP_HUMAN			9	959	-		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)						Q96SR4|Q9BRE2|Q9H2V9	Splice_Site	SNP	ENST00000320640.6	37	c.897_splice	CCDS10728.1	.	.	.	.	.	.	.	.	.	.	A	11.07	1.529629	0.27387	.	.	ENSG00000129636	ENST00000320640;ENST00000542691;ENST00000544001	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3933	0.74767	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ITFG1	45905139	1.000000	0.71417	0.976000	0.42696	0.053000	0.15095	6.341000	0.72977	2.371000	0.80710	0.533000	0.62120	.		0.363	ITFG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256768.3		NM_030790	Intron	18	31	0	0	0	0.008871	0	18	31		
RBL2	5934	broad.mit.edu	37	16	53504333	53504333	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr16:53504333G>C	ENST00000262133.6	+	16	2421	c.2284G>C	c.(2284-2286)Gtc>Ctc	p.V762L	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Intron	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	762	Pocket; binds E1A.|Spacer.				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)	p.V762L(1)		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						ATTCTTCCCTGTCCAAGTCAA	0.502																																						uc002ehi.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						c.(2284-2286)GTC>CTC		retinoblastoma-like 2 (p130)							51.0	51.0	51.0					16																	53504333		2197	4300	6497	SO:0001583	missense	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.chr16:53504333G>C	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.2284G>C	16.37:g.53504333G>C	ENSP00000262133:p.Val762Leu					RBL2_uc002ehj.2_Missense_Mutation_p.V472L|RBL2_uc010vgw.1_Intron	p.V762L	NM_005611	NP_005602	Q08999	RBL2_HUMAN			16	2402	+			762			Spacer.|Pocket; binds E1A.		B7Z913|Q15073|Q16084|Q8NE70|Q92812	Missense_Mutation	SNP	ENST00000262133.6	37	c.2284G>C	CCDS10748.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.467708	0.43839	.	.	ENSG00000103479	ENST00000262133;ENST00000379935	D	0.89810	-2.57	5.7	5.7	0.88788	.	0.058443	0.64402	D	0.000003	D	0.86377	0.5918	L	0.46157	1.445	0.80722	D	1	B;B	0.29936	0.1;0.262	B;B	0.29524	0.103;0.034	T	0.82380	-0.0486	10	0.23302	T	0.38	-13.1644	19.8354	0.96655	0.0:0.0:1.0:0.0	.	472;762	E9PG04;Q08999	.;RBL2_HUMAN	L	762;472	ENSP00000262133:V762L	ENSP00000262133:V762L	V	+	1	0	RBL2	52061834	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.026000	0.76455	2.686000	0.91538	0.555000	0.69702	GTC		0.502	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3		NM_005611		12	36	0	0	0	0.010729	0	12	36		
FTO	79068	broad.mit.edu	37	16	53878094	53878094	+	Missense_Mutation	SNP	C	C	T	rs76762929		TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr16:53878094C>T	ENST00000471389.1	+	4	1001	c.779C>T	c.(778-780)tCt>tTt	p.S260F	FTO_ENST00000394647.3_5'UTR	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	260	Fe2OG dioxygenase domain.				adipose tissue development (GO:0060612)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|oxidative demethylation (GO:0070989)|oxidative single-stranded DNA demethylation (GO:0035552)|oxidative single-stranded RNA demethylation (GO:0035553)|regulation of lipid storage (GO:0010883)|regulation of multicellular organism growth (GO:0040014)|regulation of respiratory system process (GO:0044065)|regulation of white fat cell proliferation (GO:0070350)|RNA repair (GO:0042245)|temperature homeostasis (GO:0001659)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|oxidative DNA demethylase activity (GO:0035516)|oxidative RNA demethylase activity (GO:0035515)	p.S260F(1)		endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						GAGGATGACTCTCATCTCGAA	0.408																																						uc002ehr.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(778-780)TCT>TTT		fat mass and obesity associated							146.0	134.0	138.0					16																	53878094		2198	4300	6498	SO:0001583	missense	79068				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:53878094C>T	BC003583	CCDS32448.1	16q12.2	2013-11-15			ENSG00000140718	ENSG00000140718		"""Alkylation repair homologs"""	24678	protein-coding gene	gene with protein product	"""AlkB homolog 9"", ""alpha-ketoglutarate-dependent dioxygenase"""	610966				17434869, 17991826, 22002720	Standard	NM_001080432		Approved	KIAA1752, MGC5149, ALKBH9	uc002ehr.3	Q9C0B1	OTTHUMG00000158780	ENST00000471389.1:c.779C>T	16.37:g.53878094C>T	ENSP00000418823:p.Ser260Phe					FTO_uc010vha.1_5'UTR	p.S260F	NM_001080432	NP_001073901	Q9C0B1	FTO_HUMAN			4	1001	+			260			Fe2OG dioxygenase domain.		A2RUH1|B2RNS0|Q0P676|Q7Z785	Missense_Mutation	SNP	ENST00000471389.1	37	c.779C>T	CCDS32448.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.868729	0.32977	.	.	ENSG00000140718	ENST00000471389	T	0.65364	-0.15	5.81	3.21	0.36854	Alpha-ketoglutarate-dependent dioxygenase FTO, catalytic domain (1);	0.940200	0.09129	N	0.844670	T	0.43897	0.1268	N	0.22421	0.69	0.18873	N	0.999985	B	0.27316	0.175	B	0.29862	0.108	T	0.24941	-1.0146	9	.	.	.	-5.409	3.4838	0.07611	0.3185:0.4738:0.1222:0.0855	.	260	Q9C0B1	FTO_HUMAN	F	260	ENSP00000418823:S260F	.	S	+	2	0	FTO	52435595	0.000000	0.05858	0.013000	0.15412	0.503000	0.33858	0.612000	0.24283	2.756000	0.94617	0.655000	0.94253	TCT		0.408	FTO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352196.1		NM_001080432		21	34	0	0	0	0.012319	0	21	34		
IRX3	79191	broad.mit.edu	37	16	54319259	54319259	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr16:54319259G>A	ENST00000329734.3	-	2	1246	c.534C>T	c.(532-534)ttC>ttT	p.F178F		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	178					mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of neuron differentiation (GO:0045666)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)|transcription, DNA-templated (GO:0006351)	axon (GO:0030424)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.F178F(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						GCGCGTTGGCGAACCAGGTGG	0.622																																					GBM(143;1830 1866 4487 4646 37383)	uc002eht.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(532-534)TTC>TTT		iroquois homeobox 3							104.0	88.0	94.0					16																	54319259		2198	4300	6498	SO:0001819	synonymous_variant	79191				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:54319259G>A	U90308	CCDS10750.1	16q12.2	2011-06-20	2007-07-13		ENSG00000177508	ENSG00000177508		"""Homeoboxes / TALE class"""	14360	protein-coding gene	gene with protein product		612985					Standard	NM_024336		Approved	IRX-1	uc002eht.1	P78415	OTTHUMG00000133200	ENST00000329734.3:c.534C>T	16.37:g.54319259G>A							p.F178F	NM_024336	NP_077312	P78415	IRX3_HUMAN			2	950	-			178			Homeobox; TALE-type.		Q7Z4A4|Q7Z4A5|Q8IVC6	Silent	SNP	ENST00000329734.3	37	c.534C>T	CCDS10750.1																																																																																				0.622	IRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256910.2				24	52	0	0	0	0.00632	0	24	52		
AP1G1	164	broad.mit.edu	37	16	71805129	71805129	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr16:71805129G>A	ENST00000299980.4	-	5	936	c.495C>T	c.(493-495)atC>atT	p.I165I	AP1G1_ENST00000433195.2_Silent_p.I188I|AP1G1_ENST00000423132.2_Silent_p.I165I|AP1G1_ENST00000393512.3_Silent_p.I165I|AP1G1_ENST00000569748.1_Silent_p.I165I	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	165					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)	p.I165I(1)		breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				GAACTTTCCTGATGACATGAA	0.318																																						uc010cgg.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)	2						c.(493-495)ATC>ATT		adaptor-related protein complex 1, gamma 1							82.0	76.0	78.0					16																	71805129		2198	4300	6498	SO:0001819	synonymous_variant	164				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity	g.chr16:71805129G>A	Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"""gamma1-adaptin"""	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.495C>T	16.37:g.71805129G>A						AP1G1_uc002fba.2_Silent_p.I165I|AP1G1_uc002fbb.2_Silent_p.I188I|AP1G1_uc010vmg.1_RNA|AP1G1_uc010vmh.1_Silent_p.I247I	p.I165I	NM_001128	NP_001119	O43747	AP1G1_HUMAN			5	809	-		Ovarian(137;0.125)	165					O75709|O75842|Q9UG09|Q9Y3U4	Silent	SNP	ENST00000299980.4	37	c.495C>T	CCDS32480.1																																																																																				0.318	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434147.1				15	18	0	0	0	0.00499	0	15	18		
PMFBP1	83449	broad.mit.edu	37	16	72159145	72159145	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr16:72159145C>T	ENST00000237353.10	-	16	2674	c.2413G>A	c.(2413-2415)Gag>Aag	p.E805K	PMFBP1_ENST00000537465.1_Missense_Mutation_p.E810K|PMFBP1_ENST00000355636.6_Missense_Mutation_p.E660K|PMFBP1_ENST00000537792.1_5'Flank	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	810						cytoplasm (GO:0005737)		p.E805K(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				ACCTCCAGCTCACTCTCCTGG	0.498											OREG0023927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002fcc.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(2428-2430)GAG>AAG		polyamine modulated factor 1 binding protein 1							82.0	87.0	85.0					16																	72159145		2198	4300	6498	SO:0001583	missense	83449							g.chr16:72159145C>T	AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.2413G>A	16.37:g.72159145C>T	ENSP00000237353:p.Glu805Lys		OREG0023927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1135	PMFBP1_uc002fcd.2_Missense_Mutation_p.E805K|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Missense_Mutation_p.E660K|PMFBP1_uc010cgo.1_Missense_Mutation_p.E101K	p.E810K	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN			16	2600	-		Ovarian(137;0.179)	810			Potential.		B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	ENST00000237353.10	37	c.2428G>A	CCDS32483.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.653971	0.67472	.	.	ENSG00000118557	ENST00000537465;ENST00000237353;ENST00000355636	T;T;T	0.32988	1.43;1.43;1.43	5.5	5.5	0.81552	.	0.000000	0.47455	D	0.000227	T	0.53674	0.1811	M	0.68317	2.08	0.34528	D	0.708869	D;D;D	0.89917	0.996;1.0;0.996	D;D;D	0.87578	0.99;0.998;0.987	T	0.64651	-0.6357	10	0.51188	T	0.08	-27.219	14.9047	0.70709	0.0:1.0:0.0:0.0	.	810;805;810	Q8TBY8;Q8TBY8-2;G3V1Q7	PMFBP_HUMAN;.;.	K	810;805;660	ENSP00000443817:E810K;ENSP00000237353:E805K;ENSP00000347854:E660K	ENSP00000237353:E805K	E	-	1	0	PMFBP1	70716646	1.000000	0.71417	0.947000	0.38551	0.415000	0.31203	3.737000	0.55060	2.585000	0.87301	0.555000	0.69702	GAG		0.498	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396473.2		NM_031293		40	106	0	0	0	0.025465	0	40	106		
NECAB2	54550	broad.mit.edu	37	16	84028251	84028251	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr16:84028251G>C	ENST00000305202.4	+	8	770	c.753G>C	c.(751-753)caG>caC	p.Q251H	NECAB2_ENST00000565691.1_Missense_Mutation_p.Q168H|NECAB2_ENST00000567703.1_3'UTR	NM_019065.2	NP_061938.2	Q7Z6G3	NECA2_HUMAN	N-terminal EF-hand calcium binding protein 2	251						cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)	p.Q251H(1)		endometrium(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						TGGAAGCCCAGATCAGCCGCT	0.602																																						uc002fhd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(751-753)CAG>CAC		neuronal calcium-binding protein 2							58.0	59.0	59.0					16																	84028251		2200	4300	6500	SO:0001583	missense	54550				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity|protein binding	g.chr16:84028251G>C	AY299331	CCDS10940.1	16q23.3-q24.1	2013-01-10	2007-12-06	2007-12-06	ENSG00000103154	ENSG00000103154		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	23746	protein-coding gene	gene with protein product			"""EF-hand calcium binding protein 2"""	EFCBP2		12044471	Standard	NM_019065		Approved		uc002fhd.3	Q7Z6G3	OTTHUMG00000137636	ENST00000305202.4:c.753G>C	16.37:g.84028251G>C	ENSP00000307449:p.Gln251His					NECAB2_uc002fhe.2_Missense_Mutation_p.Q168H	p.Q251H	NM_019065	NP_061938	Q7Z6G3	NECA2_HUMAN			8	770	+			251					A2RRG3|O75547|Q6ZSK0	Missense_Mutation	SNP	ENST00000305202.4	37	c.753G>C	CCDS10940.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.336019	0.60853	.	.	ENSG00000103154	ENST00000305202	T	0.31247	1.5	4.64	3.69	0.42338	.	0.000000	0.85682	D	0.000000	T	0.48677	0.1513	M	0.84326	2.69	0.45342	D	0.998331	D	0.67145	0.996	P	0.55667	0.781	T	0.53947	-0.8366	10	0.87932	D	0	-24.5849	9.7834	0.40662	0.0965:0.0:0.9035:0.0	.	251	Q7Z6G3	NECA2_HUMAN	H	251	ENSP00000307449:Q251H	ENSP00000307449:Q251H	Q	+	3	2	NECAB2	82585752	1.000000	0.71417	0.888000	0.34837	0.789000	0.44602	3.555000	0.53727	0.928000	0.37168	0.561000	0.74099	CAG		0.602	NECAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269077.2		NM_019065		5	31	0	0	0	0.021553	0	5	31		
DNAAF1	123872	broad.mit.edu	37	16	84182710	84182710	+	Missense_Mutation	SNP	G	G	A	rs200440212		TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr16:84182710G>A	ENST00000378553.5	+	2	347	c.223G>A	c.(223-225)Gca>Aca	p.A75T	DNAAF1_ENST00000334315.5_Missense_Mutation_p.A75T	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	75			Missing (in CILD13). {ECO:0000269|PubMed:19944405}.		axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)	p.A75T(1)		NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						TGGTCACTTCGCACACCCAAG	0.478																																						uc002fhl.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(223-225)GCA>ACA		leucine rich repeat containing 50		G	THR/ALA	1,4399	2.1+/-5.4	0,1,2199	111.0	107.0	108.0		223	1.0	0.0	16		108	0,8600		0,0,4300	yes	missense	DNAAF1	NM_178452.4	58	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	benign	75/726	84182710	1,12999	2200	4300	6500	SO:0001583	missense	123872	Kartagener_syndrome			axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding	g.chr16:84182710G>A	BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"""outer row dynein assembly 7 homolog (Chlamydomonas)"""	613190	"""leucine rich repeat containing 50"""	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.223G>A	16.37:g.84182710G>A	ENSP00000367815:p.Ala75Thr					LRRC50_uc010chi.1_RNA	p.A75T	NM_178452	NP_848547	Q8NEP3	DAAF1_HUMAN			2	404	+			75		Missing (in CILD13).			B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Missense_Mutation	SNP	ENST00000378553.5	37	c.223G>A	CCDS10943.2	.	.	.	.	.	.	.	.	.	.	G	10.38	1.334148	0.24253	2.27E-4	0.0	ENSG00000154099	ENST00000334315;ENST00000378553	T;T	0.35048	1.33;1.74	4.33	0.981	0.19756	.	0.882556	0.09241	N	0.829185	T	0.18551	0.0445	N	0.16790	0.44	0.09310	N	1	B	0.26258	0.145	B	0.13407	0.009	T	0.23261	-1.0193	10	0.22109	T	0.4	-2.6017	5.6225	0.17465	0.1137:0.3947:0.4916:0.0	.	75	Q8NEP3	DAAF1_HUMAN	T	75	ENSP00000334593:A75T;ENSP00000367815:A75T	ENSP00000334593:A75T	A	+	1	0	DNAAF1	82740211	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.301000	0.08232	0.544000	0.28883	-0.226000	0.12346	GCA		0.478	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250328.3		NM_178452		33	48	0	0	0	0.010818	0	33	48		
TRPV3	162514	broad.mit.edu	37	17	3433367	3433367	+	Missense_Mutation	SNP	G	G	A	rs367883200		TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr17:3433367G>A	ENST00000576742.1	-	9	1517	c.1196C>T	c.(1195-1197)aCg>aTg	p.T399M	TRPV3_ENST00000572519.1_Missense_Mutation_p.T399M|TRPV3_ENST00000301365.4_Missense_Mutation_p.T399M	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	399					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)	p.T399M(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	TGAGTTGTCCGTGGTGGTGTC	0.607																																						uc002fvt.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)	4						c.(1195-1197)ACG>ATG		transient receptor potential cation channel,	Menthol(DB00825)						245.0	194.0	211.0					17																	3433367		2203	4300	6503	SO:0001583	missense	162514					integral to membrane	calcium channel activity	g.chr17:3433367G>A	AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.1196C>T	17.37:g.3433367G>A	ENSP00000461518:p.Thr399Met					TRPV3_uc002fvs.1_RNA|TRPV3_uc010vrh.1_Missense_Mutation_p.T383M|TRPV3_uc010vri.1_Missense_Mutation_p.T354M|TRPV3_uc010vrj.1_Missense_Mutation_p.T383M|TRPV3_uc010vrk.1_RNA|TRPV3_uc010vrl.1_Missense_Mutation_p.T383M|TRPV3_uc010vrm.1_RNA|TRPV3_uc002fvr.2_Missense_Mutation_p.T399M|TRPV3_uc002fvu.2_Missense_Mutation_p.T399M|TRPV3_uc010vrn.1_Translation_Start_Site	p.T399M	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN			9	1518	-			399			Cytoplasmic (Potential).		Q8NDW7|Q8NET9|Q8NFH2	Missense_Mutation	SNP	ENST00000576742.1	37	c.1196C>T	CCDS11029.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.331513	0.41297	.	.	ENSG00000167723	ENST00000381913;ENST00000301365;ENST00000430263	D	0.89746	-2.56	5.69	5.69	0.88448	.	0.412177	0.20134	U	0.098521	D	0.86838	0.6029	N	0.19112	0.55	0.09310	N	1	B;P;P;D;P;P;P	0.56968	0.233;0.955;0.923;0.978;0.872;0.798;0.872	B;P;B;P;B;B;B	0.49361	0.168;0.608;0.197;0.608;0.36;0.197;0.36	T	0.81720	-0.0804	10	0.62326	D	0.03	-2.9053	19.194	0.93679	0.0:0.0:1.0:0.0	.	383;383;399;383;399;399;399	E7EV24;B7ZKP9;Q2M3L1;B7ZKP6;Q8NET8-3;Q8NET8;Q8NET8-2	.;.;.;.;.;TRPV3_HUMAN;.	M	399;399;383	ENSP00000301365:T399M	ENSP00000301365:T399M	T	-	2	0	TRPV3	3380117	0.028000	0.19301	0.051000	0.19133	0.210000	0.24377	1.329000	0.33770	2.863000	0.98299	0.549000	0.68633	ACG		0.607	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207379.2		NM_145068		30	18	0	0	0	0.015359	0	30	18		
GPS2	2874	broad.mit.edu	37	17	7217458	7217458	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr17:7217458G>T	ENST00000380728.2	-	5	638	c.338C>A	c.(337-339)tCa>tAa	p.S113*	GPS2_ENST00000389167.5_Nonsense_Mutation_p.S113*|RP11-542C16.2_ENST00000575474.1_3'UTR|GPS2_ENST00000391950.3_Nonsense_Mutation_p.S113*			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	113					cell cycle (GO:0007049)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase inhibitor activity (GO:0005095)|transcription corepressor activity (GO:0003714)	p.S113*(1)		breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				GTATGCAGCTGATGTTAGGGT	0.488																																						uc002gfv.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(2)|pancreas(1)	3						c.(337-339)TCA>TAA		G protein pathway suppressor 2							183.0	168.0	173.0					17																	7217458		2203	4300	6503	SO:0001587	stop_gained	2874				cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity	g.chr17:7217458G>T	U28963	CCDS11100.1	17p13.1	2006-04-29			ENSG00000132522	ENSG00000132522			4550	protein-coding gene	gene with protein product		601935				8943324	Standard	NM_004489		Approved		uc002gfx.1	Q13227	OTTHUMG00000102198	ENST00000380728.2:c.338C>A	17.37:g.7217458G>T	ENSP00000370104:p.Ser113*					GPS2_uc002gfw.1_Nonsense_Mutation_p.S75*|GPS2_uc002gfx.1_Nonsense_Mutation_p.S113*|NEURL4_uc002gfy.1_RNA|GPS2_uc002gfz.1_Nonsense_Mutation_p.S113*	p.S113*	NM_004489	NP_004480	Q13227	GPS2_HUMAN			4	601	-		Prostate(122;0.157)	113					B4DXA1|Q6FHM8	Nonsense_Mutation	SNP	ENST00000380728.2	37	c.338C>A	CCDS11100.1	.	.	.	.	.	.	.	.	.	.	G	37	6.103536	0.97286	.	.	ENSG00000132522	ENST00000391950;ENST00000380728;ENST00000389167;ENST00000315601	.	.	.	4.88	4.88	0.63580	.	0.000000	0.56097	U	0.000027	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.9648	0.86282	0.0:0.0:1.0:0.0	.	.	.	.	X	113	.	ENSP00000319371:S113X	S	-	2	0	GPS2	7158182	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	8.256000	0.89848	2.548000	0.85928	0.655000	0.94253	TCA		0.488	GPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220048.4		NM_004489		54	36	1	0	1.93748e-29	0.01441	2.1423e-29	54	36		
MYH13	8735	broad.mit.edu	37	17	10219314	10219314	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr17:10219314A>G	ENST00000418404.3	-	27	3930	c.3767T>C	c.(3766-3768)gTa>gCa	p.V1256A	MYH13_ENST00000252172.4_Missense_Mutation_p.V1256A|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1256					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.V1256A(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TTGATCTTCTACCGTCCGGCA	0.428																																						uc002gmk.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(4)|skin(2)	6						c.(3766-3768)GTA>GCA		myosin, heavy polypeptide 13, skeletal muscle							169.0	161.0	164.0					17																	10219314		1955	4142	6097	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10219314A>G	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.3767T>C	17.37:g.10219314A>G	ENSP00000404570:p.Val1256Ala						p.V1256A	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			28	3857	-			1256			Potential.		O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.3767T>C	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	A	14.75	2.627643	0.46944	.	.	ENSG00000006788	ENST00000252172	T	0.76839	-1.05	4.38	3.3	0.37823	Myosin tail (1);	.	.	.	.	T	0.61211	0.2329	N	0.11201	0.11	0.29232	N	0.873205	B	0.09022	0.002	B	0.19946	0.027	T	0.58053	-0.7704	9	0.87932	D	0	.	9.8054	0.40791	0.9172:0.0:0.0828:0.0	.	1256	Q9UKX3	MYH13_HUMAN	A	1256	ENSP00000252172:V1256A	ENSP00000252172:V1256A	V	-	2	0	MYH13	10160039	0.783000	0.28701	0.910000	0.35882	0.721000	0.41392	5.190000	0.65104	0.650000	0.30769	0.460000	0.39030	GTA		0.428	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1		NM_003802		17	39	0	0	0	0.028581	0	17	39		
MYO18A	399687	broad.mit.edu	37	17	27437053	27437053	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr17:27437053C>T	ENST00000527372.1	-	19	3334	c.3154G>A	c.(3154-3156)Gag>Aag	p.E1052K	MYO18A_ENST00000531253.1_Missense_Mutation_p.E1052K|MYO18A_ENST00000354329.4_Missense_Mutation_p.E1052K|MYO18A_ENST00000533112.1_Missense_Mutation_p.E1052K	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1052	Myosin motor.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)	p.E1052K(2)		NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GCCCAGCCCTCAGCTACAGGC	0.647																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	uc002hdt.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(3154-3156)GAG>AAG		myosin 18A isoform a							33.0	43.0	40.0					17																	27437053		2185	4281	6466	SO:0001583	missense	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27437053C>T	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.3154G>A	17.37:g.27437053C>T	ENSP00000437073:p.Glu1052Lys					MYO18A_uc010wbc.1_Missense_Mutation_p.E594K|MYO18A_uc002hds.2_Missense_Mutation_p.E594K|MYO18A_uc010csa.1_Missense_Mutation_p.E1052K|MYO18A_uc002hdu.1_Missense_Mutation_p.E1052K|MYO18A_uc010wbd.1_Missense_Mutation_p.E721K	p.E1052K	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		19	3312	-			1052			Myosin head-like.		Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	c.3154G>A	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274484	0.59649	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000458428	T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59	5.15	5.15	0.70609	Myosin head, motor domain (1);	0.150792	0.64402	D	0.000017	T	0.67906	0.2943	L	0.47716	1.5	0.43613	D	0.99598	B;P;P;P;P	0.46142	0.012;0.873;0.873;0.873;0.837	B;B;B;B;B	0.42361	0.015;0.298;0.385;0.298;0.318	T	0.68428	-0.5411	10	0.36615	T	0.2	.	18.5878	0.91197	0.0:1.0:0.0:0.0	.	721;664;1052;1052;1052	Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;.;MY18A_HUMAN	K	1052;1052;1052;1052;1052;664	ENSP00000346291:E1052K;ENSP00000435932:E1052K;ENSP00000434228:E1052K;ENSP00000437073:E1052K	ENSP00000346291:E1052K	E	-	1	0	MYO18A	24461179	1.000000	0.71417	0.986000	0.45419	0.811000	0.45836	7.344000	0.79328	2.566000	0.86566	0.561000	0.74099	GAG		0.647	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1		NM_078471		8	24	0	0	0	0.004482	0	8	24		
ASIC2	40	broad.mit.edu	37	17	31344625	31344625	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr17:31344625C>G	ENST00000359872.6	-	8	2127	c.1366G>C	c.(1366-1368)Gag>Cag	p.E456Q	ASIC2_ENST00000225823.2_Missense_Mutation_p.E507Q	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	456					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)	p.E507*(1)|p.E456*(1)|p.E456Q(1)|p.E507Q(1)								Amiloride(DB00594)	AATCTTACCTCATAAATATAA	0.473																																						uc002hhu.2		NaN																	4	Substitution - Nonsense(2)|Substitution - Missense(2)	p.L456fs*2(1)	urinary_tract(2)|lung(2)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(1366-1368)GAG>CAG		amiloride-sensitive cation channel 1, neuronal	Amiloride(DB00594)						77.0	74.0	75.0					17																	31344625		2203	4300	6503	SO:0001583	missense	40				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr17:31344625C>G	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.1366G>C	17.37:g.31344625C>G	ENSP00000352934:p.Glu456Gln					ACCN1_uc002hht.2_Missense_Mutation_p.E507Q	p.E456Q	NM_001094	NP_001085	Q16515	ACCN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215)	8	1640	-		Breast(31;0.042)|Ovarian(249;0.202)	456			Cytoplasmic (By similarity).		E9PBX2|Q13553|Q6DJU1|Q8N3E2	Missense_Mutation	SNP	ENST00000359872.6	37	c.1366G>C	CCDS42296.1	.	.	.	.	.	.	.	.	.	.	c	18.77	3.695120	0.68386	.	.	ENSG00000108684	ENST00000225823;ENST00000359872	T;T	0.69040	-0.14;-0.37	4.45	4.45	0.53987	.	0.000000	0.85682	D	0.000000	T	0.65491	0.2696	M	0.64260	1.97	0.58432	D	0.999995	B;D	0.59357	0.156;0.985	B;B	0.43251	0.03;0.413	T	0.59920	-0.7363	10	0.36615	T	0.2	-14.1986	14.9461	0.71032	0.0:1.0:0.0:0.0	.	456;507	Q16515;E9PBX2	ACCN1_HUMAN;.	Q	507;456	ENSP00000225823:E507Q;ENSP00000352934:E456Q	ENSP00000225823:E507Q	E	-	1	0	ACCN1	28368738	1.000000	0.71417	0.998000	0.56505	0.898000	0.52572	7.632000	0.83247	-0.102000	0.12197	0.459000	0.35465	GAG		0.473	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1		NM_183377, NM_001094		13	24	0	0	0	0.020292	0	13	24		
ERBB2	2064	broad.mit.edu	37	17	37872839	37872839	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq;WGS			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr17:37872839C>T	ENST00000269571.5	+	14	1877	c.1718C>T	c.(1717-1719)tCa>tTa	p.S573L	ERBB2_ENST00000540042.1_Missense_Mutation_p.S543L|ERBB2_ENST00000406381.2_Missense_Mutation_p.S543L|ERBB2_ENST00000540147.1_Missense_Mutation_p.S543L|ERBB2_ENST00000541774.1_Missense_Mutation_p.S558L|ERBB2_ENST00000584450.1_Missense_Mutation_p.S573L|ERBB2_ENST00000578199.1_Missense_Mutation_p.S543L|ERBB2_ENST00000445658.2_Missense_Mutation_p.S297L|ERBB2_ENST00000584601.1_Missense_Mutation_p.S543L			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	573					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.S573L(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)	CAGAATGGCTCAGTGACCTGT	0.637		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												uc002hso.2		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		1	Substitution - Missense(1)		urinary_tract(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.(1717-1719)TCA>TTA		erbB-2 isoform a	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						68.0	58.0	61.0					17																	37872839		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.chr17:37872839C>T	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.1718C>T	17.37:g.37872839C>T	ENSP00000269571:p.Ser573Leu	TCGA GBM(5;<1E-08)				ERBB2_uc002hsm.2_Missense_Mutation_p.S543L|ERBB2_uc010cwa.2_Missense_Mutation_p.S558L|ERBB2_uc002hsp.2_Missense_Mutation_p.S376L|ERBB2_uc010cwb.2_Missense_Mutation_p.S573L|ERBB2_uc010wek.1_Missense_Mutation_p.S297L|ERBB2_uc002hsl.2_Missense_Mutation_p.S543L	p.S573L	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)	14	1956	+	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)	573			Extracellular (Potential).		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	c.1718C>T	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.749291	0.49257	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147;ENST00000540042	D;D;D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94;-1.94;-1.94	5.93	5.93	0.95920	Growth factor, receptor (1);	.	.	.	.	D	0.83454	0.5258	L	0.59436	1.845	0.47037	D	0.999295	B;P;P;B	0.42908	0.099;0.793;0.6;0.099	B;B;B;B	0.39185	0.043;0.293;0.201;0.043	T	0.81597	-0.0860	9	0.27082	T	0.32	.	18.9076	0.92469	0.0:1.0:0.0:0.0	.	297;543;558;573	B4DTR1;F5H1T4;P04626-4;P04626	.;.;.;ERBB2_HUMAN	L	543;558;297;573;543;543	ENSP00000385185:S543L;ENSP00000446466:S558L;ENSP00000404047:S297L;ENSP00000269571:S573L;ENSP00000443562:S543L;ENSP00000446382:S543L	ENSP00000269571:S573L	S	+	2	0	ERBB2	35126365	0.992000	0.36948	0.973000	0.42090	0.981000	0.71138	3.052000	0.49893	2.815000	0.96918	0.561000	0.74099	TCA		0.637	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2				10	19	0	0	0	0.010729	0	10	19		
KRTAP4-7	100132476	broad.mit.edu	37	17	39240627	39240627	+	Missense_Mutation	SNP	T	T	C	rs189343211		TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr17:39240627T>C	ENST00000391417.4	+	1	169	c.169T>C	c.(169-171)Tct>Cct	p.S57P		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	57	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.S57P(4)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						GTGCTGCCAGTCTGTGTGCTG	0.667																																						uc010wfn.1		NaN																	4	Substitution - Missense(4)		urinary_tract(2)|kidney(2)		0						c.(169-171)TCT>CCT		keratin associated protein 4-7							18.0	28.0	25.0					17																	39240627		691	1590	2281	SO:0001583	missense	100132476							g.chr17:39240627T>C	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"""Keratin associated proteins"""	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.169T>C	17.37:g.39240627T>C	ENSP00000375236:p.Ser57Pro						p.S57P	NM_033061	NP_149050					1	169	+								A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	ENST00000391417.4	37	c.169T>C	CCDS45673.1	.	.	.	.	.	.	.	.	.	.	.	0.387	-0.925721	0.02377	.	.	ENSG00000240871;ENSG00000212722	ENST00000391417;ENST00000377734	T	0.01272	5.07	3.6	-0.386	0.12466	.	1.254490	0.05892	N	0.628448	T	0.00695	0.0023	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.43572	-0.9383	9	0.02654	T	1	.	4.4551	0.11639	0.0:0.4346:0.1731:0.3923	.	57	Q9BYR0	KRA47_HUMAN	P	57	ENSP00000375236:S57P	ENSP00000375236:S57P	S	+	1	0	KRTAP4-9;KRTAP4-7	36494153	0.000000	0.05858	0.033000	0.17914	0.157000	0.22087	-0.806000	0.04525	0.004000	0.14682	0.374000	0.22700	TCT		0.667	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1				3	50	0	0	0	0.009096	0	3	50		
NBR1	4077	broad.mit.edu	37	17	41355748	41355748	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr17:41355748C>T	ENST00000422280.1	+	20	3131	c.2672C>T	c.(2671-2673)tCt>tTt	p.S891F	NBR1_ENST00000589872.1_Missense_Mutation_p.S891F|NBR1_ENST00000542611.1_Intron|NBR1_ENST00000389312.4_Missense_Mutation_p.S891F|NBR1_ENST00000590996.1_Missense_Mutation_p.S891F|NBR1_ENST00000341165.6_Missense_Mutation_p.S891F	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	891					macroautophagy (GO:0016236)|negative regulation of osteoblast differentiation (GO:0045668)|protein oligomerization (GO:0051259)|regulation of bone mineralization (GO:0030500)|regulation of stress-activated MAPK cascade (GO:0032872)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	mitogen-activated protein kinase binding (GO:0051019)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)	p.S891F(1)		NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		GGGGCTTTGTCTGTTGCTGCC	0.493																																						uc010czd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(2671-2673)TCT>TTT		neighbor of BRCA1 gene 1							84.0	77.0	79.0					17																	41355748		1568	3582	5150	SO:0001583	missense	4077				macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding	g.chr17:41355748C>T	X76952	CCDS45694.1	17q21.31	2008-02-01	2005-02-15	2005-02-16		ENSG00000188554			6746	protein-coding gene	gene with protein product		166945	"""membrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen CA125)"""	M17S2		8069304	Standard	XM_006721903		Approved	CA125, KIAA0049, 1A1-3B	uc010whv.2	Q14596		ENST00000422280.1:c.2672C>T	17.37:g.41355748C>T	ENSP00000411250:p.Ser891Phe					NBR1_uc010diz.2_Missense_Mutation_p.S891F|NBR1_uc010whu.1_Missense_Mutation_p.S891F|NBR1_uc010whv.1_Missense_Mutation_p.S891F|NBR1_uc010whw.1_Intron	p.S891F	NM_031862	NP_114068	Q14596	NBR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0934)	20	2812	+		Breast(137;0.00086)	891					Q13173|Q15026|Q5J7Q8|Q96GB6|Q9NRF7	Missense_Mutation	SNP	ENST00000422280.1	37	c.2672C>T	CCDS45694.1	.	.	.	.	.	.	.	.	.	.	C	33	5.200898	0.94997	.	.	ENSG00000188554	ENST00000422280;ENST00000537493;ENST00000341165;ENST00000389312;ENST00000389311	T;T;T	0.57907	0.37;0.37;0.38	5.87	5.87	0.94306	.	.	.	.	.	T	0.74974	0.3787	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.75445	-0.3315	9	0.87932	D	0	-11.3584	20.5827	0.99408	0.0:1.0:0.0:0.0	.	891;891	Q14596-2;Q14596	.;NBR1_HUMAN	F	891;142;891;891;891	ENSP00000411250:S891F;ENSP00000343479:S891F;ENSP00000373963:S891F	ENSP00000343479:S891F	S	+	2	0	NBR1	38711274	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.362000	0.66098	2.941000	0.99782	0.655000	0.94253	TCT		0.493	NBR1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453461.1		NM_005899		7	11	0	0	0	0.004482	0	7	11		
NBR1	4077	broad.mit.edu	37	17	41355760	41355760	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr17:41355760C>T	ENST00000422280.1	+	20	3143	c.2684C>T	c.(2683-2685)tCt>tTt	p.S895F	NBR1_ENST00000589872.1_Missense_Mutation_p.S895F|NBR1_ENST00000542611.1_Intron|NBR1_ENST00000389312.4_Missense_Mutation_p.S895F|NBR1_ENST00000590996.1_Missense_Mutation_p.S895F|NBR1_ENST00000341165.6_Missense_Mutation_p.S895F	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	895					macroautophagy (GO:0016236)|negative regulation of osteoblast differentiation (GO:0045668)|protein oligomerization (GO:0051259)|regulation of bone mineralization (GO:0030500)|regulation of stress-activated MAPK cascade (GO:0032872)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	mitogen-activated protein kinase binding (GO:0051019)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)	p.S895F(1)		NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		GTTGCTGCCTCTGCATACAAG	0.502																																						uc010czd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(2683-2685)TCT>TTT		neighbor of BRCA1 gene 1							81.0	74.0	76.0					17																	41355760		1568	3582	5150	SO:0001583	missense	4077				macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding	g.chr17:41355760C>T	X76952	CCDS45694.1	17q21.31	2008-02-01	2005-02-15	2005-02-16		ENSG00000188554			6746	protein-coding gene	gene with protein product		166945	"""membrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen CA125)"""	M17S2		8069304	Standard	XM_006721903		Approved	CA125, KIAA0049, 1A1-3B	uc010whv.2	Q14596		ENST00000422280.1:c.2684C>T	17.37:g.41355760C>T	ENSP00000411250:p.Ser895Phe					NBR1_uc010diz.2_Missense_Mutation_p.S895F|NBR1_uc010whu.1_Missense_Mutation_p.S895F|NBR1_uc010whv.1_Missense_Mutation_p.S895F|NBR1_uc010whw.1_Intron	p.S895F	NM_031862	NP_114068	Q14596	NBR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0934)	20	2824	+		Breast(137;0.00086)	895					Q13173|Q15026|Q5J7Q8|Q96GB6|Q9NRF7	Missense_Mutation	SNP	ENST00000422280.1	37	c.2684C>T	CCDS45694.1	.	.	.	.	.	.	.	.	.	.	C	33	5.222260	0.95139	.	.	ENSG00000188554	ENST00000422280;ENST00000537493;ENST00000341165;ENST00000389312;ENST00000389311	T;T;T	0.51071	0.72;0.72;0.73	5.87	5.87	0.94306	.	.	.	.	.	T	0.71567	0.3355	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.72110	-0.4389	9	0.87932	D	0	-10.9718	20.5827	0.99408	0.0:1.0:0.0:0.0	.	895;895	Q14596-2;Q14596	.;NBR1_HUMAN	F	895;146;895;895;895	ENSP00000411250:S895F;ENSP00000343479:S895F;ENSP00000373963:S895F	ENSP00000343479:S895F	S	+	2	0	NBR1	38711286	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.085000	0.76875	2.941000	0.99782	0.655000	0.94253	TCT		0.502	NBR1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453461.1		NM_005899		7	10	0	0	0	0.001984	0	7	10		
HEXIM1	10614	broad.mit.edu	37	17	43227360	43227360	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr17:43227360C>T	ENST00000332499.2	+	1	2677	c.803C>T	c.(802-804)tCg>tTg	p.S268L	AC002117.1_ENST00000452741.1_RNA|AC002117.1_ENST00000589950.1_RNA	NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	268					heart development (GO:0007507)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|snRNA binding (GO:0017069)	p.S268L(1)		breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CGGGACTTCTCGGAGACGTAC	0.602																																						uc002iig.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(802-804)TCG>TTG		hexamethylene bis-acetamide inducible 1							54.0	61.0	58.0					17																	43227360		2203	4300	6503	SO:0001583	missense	10614				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding	g.chr17:43227360C>T	AB021179	CCDS11495.1	17q21.31	2006-03-28				ENSG00000186834			24953	protein-coding gene	gene with protein product		607328				12119119, 12832472	Standard	NM_006460		Approved	CLP-1, HIS1, MAQ1, EDG1	uc002iig.3	O94992		ENST00000332499.2:c.803C>T	17.37:g.43227360C>T	ENSP00000328773:p.Ser268Leu						p.S268L	NM_006460	NP_006451	O94992	HEXI1_HUMAN			1	2677	+			268					B2R8Y5	Missense_Mutation	SNP	ENST00000332499.2	37	c.803C>T	CCDS11495.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.982705	0.93044	.	.	ENSG00000186834	ENST00000332499	.	.	.	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.79684	0.4488	M	0.77616	2.38	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.82782	-0.0287	9	0.87932	D	0	-10.2843	16.8693	0.86037	0.0:1.0:0.0:0.0	.	268	O94992	HEXI1_HUMAN	L	268	.	ENSP00000328773:S268L	S	+	2	0	HEXIM1	40583143	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.881000	0.69706	2.338000	0.79540	0.561000	0.74099	TCG		0.602	HEXIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449821.2		NM_006460		19	31	0	0	0	0.007413	0	19	31		
DLX3	1747	broad.mit.edu	37	17	48070801	48070801	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr17:48070801G>A	ENST00000434704.2	-	2	704	c.479C>T	c.(478-480)gCc>gTc	p.A160V	DLX3_ENST00000512495.2_Missense_Mutation_p.A40V	NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN	distal-less homeobox 3	160					blood vessel development (GO:0001568)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|placenta development (GO:0001890)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A160V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						GGCCAGCTCGGCGCGCTCGGG	0.711																																						uc002ipy.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(478-480)GCC>GTC		distal-less homeobox 3							24.0	24.0	24.0					17																	48070801		2200	4297	6497	SO:0001583	missense	1747					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:48070801G>A		CCDS11556.1	17q21.33	2011-06-20	2005-12-22			ENSG00000064195		"""Homeoboxes / ANTP class : NKL subclass"""	2916	protein-coding gene	gene with protein product		600525	"""distal-less homeo box 3"""			7613049	Standard	NM_005220		Approved		uc002ipy.3	O60479		ENST00000434704.2:c.479C>T	17.37:g.48070801G>A	ENSP00000389870:p.Ala160Val						p.A160V	NM_005220	NP_005211	O60479	DLX3_HUMAN			2	705	-			160			Homeobox.		B3KQL6	Missense_Mutation	SNP	ENST00000434704.2	37	c.479C>T	CCDS11556.1	.	.	.	.	.	.	.	.	.	.	G	33	5.276563	0.95459	.	.	ENSG00000064195	ENST00000434704;ENST00000512495	D;D	0.96300	-3.97;-3.97	3.83	3.83	0.44106	Homeobox, eukaryotic (1);Homeodomain-related (1);Helix-turn-helix motif, lambda-like repressor (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.64402	D	0.000001	D	0.95720	0.8608	N	0.20766	0.605	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96041	0.9024	10	0.62326	D	0.03	-18.1976	13.2782	0.60200	0.0:0.0:1.0:0.0	.	160	O60479	DLX3_HUMAN	V	160;40	ENSP00000389870:A160V;ENSP00000449976:A40V	ENSP00000389870:A160V	A	-	2	0	DLX3	45425800	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.413000	0.97351	1.961000	0.56991	0.462000	0.41574	GCC		0.711	DLX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366307.1				3	14	0	0	0	0.014758	0	3	14		
HLF	3131	broad.mit.edu	37	17	53345431	53345431	+	Missense_Mutation	SNP	G	G	C	rs193920793		TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr17:53345431G>C	ENST00000226067.5	+	2	908	c.435G>C	c.(433-435)caG>caC	p.Q145H	HLF_ENST00000575345.1_Missense_Mutation_p.Q60H|HLF_ENST00000430986.2_Missense_Mutation_p.Q60H|HLF_ENST00000573945.1_Missense_Mutation_p.Q60H	NM_002126.4	NP_002117.1	Q16534	HLF_HUMAN	hepatic leukemia factor	145					multicellular organismal development (GO:0007275)|rhythmic process (GO:0048511)|skeletal muscle cell differentiation (GO:0035914)|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)	p.Q145H(1)		large_intestine(1)|ovary(2)	3						ACTGTATGCAGAGCCCCATCA	0.582			T	TCF3	ALL																																	uc002iug.1		NaN		Dom	yes		17	17q22	3131	T	hepatic leukemia factor			L	TCF3		ALL		1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(433-435)CAG>CAC		hepatic leukemia factor							52.0	53.0	53.0					17																	53345431		2203	4300	6503	SO:0001583	missense	3131				multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:53345431G>C		CCDS11585.1	17q22	2011-05-19			ENSG00000108924	ENSG00000108924			4977	protein-coding gene	gene with protein product		142385				1386162	Standard	XM_005257269		Approved	MGC33822	uc002iug.1	Q16534		ENST00000226067.5:c.435G>C	17.37:g.53345431G>C	ENSP00000226067:p.Gln145His					HLF_uc010dce.1_Missense_Mutation_p.Q60H|HLF_uc002iuh.2_Missense_Mutation_p.Q60H|HLF_uc010wni.1_Missense_Mutation_p.R94T	p.Q145H	NM_002126	NP_002117	Q16534	HLF_HUMAN			2	960	+			145					A8K1X8|Q6FHS9	Missense_Mutation	SNP	ENST00000226067.5	37	c.435G>C	CCDS11585.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.074128	0.36566	.	.	ENSG00000108924	ENST00000226067;ENST00000430986	.	.	.	5.94	4.97	0.65823	.	0.141387	0.48767	D	0.000173	T	0.27967	0.0689	N	0.03608	-0.345	0.47245	D	0.999363	B	0.02656	0.0	B	0.01281	0.0	T	0.07790	-1.0754	9	0.34782	T	0.22	.	9.7456	0.40444	0.0734:0.1404:0.7862:0.0	.	145	Q16534	HLF_HUMAN	H	145;60	.	ENSP00000226067:Q145H	Q	+	3	2	HLF	50700430	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.015000	0.49599	1.505000	0.48720	0.655000	0.94253	CAG		0.582	HLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439185.1		NM_002126		34	61	0	0	0	0.013726	0	34	61		
LRRC37A3	374819	broad.mit.edu	37	17	62865278	62865278	+	Silent	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr17:62865278G>C	ENST00000584306.1	-	8	3443	c.2913C>G	c.(2911-2913)ctC>ctG	p.L971L	RN7SL404P_ENST00000582421.1_RNA|LRRC37A3_ENST00000400877.3_Silent_p.L9L|LRRC37A3_ENST00000339474.5_Silent_p.L89L|LRRC37A3_ENST00000319651.5_Silent_p.L971L	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	971						integral component of membrane (GO:0016021)		p.L971L(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GATTGTGATTGAGAATTCTGA	0.318																																						uc002jey.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(2911-2913)CTC>CTG		leucine rich repeat containing 37, member A3							83.0	104.0	97.0					17																	62865278		1506	2702	4208	SO:0001819	synonymous_variant	374819					integral to membrane		g.chr17:62865278G>C	AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.2913C>G	17.37:g.62865278G>C						LRRC37A3_uc010wqg.1_Silent_p.L89L|LRRC37A3_uc010wqf.1_Silent_p.L9L|LRRC37A3_uc010dek.1_5'UTR	p.L971L	NM_199340	NP_955372	O60309	L37A3_HUMAN			8	3444	-			971			Extracellular (Potential).|LRR 8.		Q49A01|Q49A80|Q8NB33	Silent	SNP	ENST00000584306.1	37	c.2913C>G	CCDS32708.1																																																																																				0.318	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445377.1		NM_199340		32	104	0	0	0	0.025465	0	32	104		
ABCA5	23461	broad.mit.edu	37	17	67270112	67270112	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr17:67270112G>A	ENST00000392676.3	-	20	2816	c.2752C>T	c.(2752-2754)Caa>Taa	p.Q918*	ABCA5_ENST00000392677.2_Nonsense_Mutation_p.Q918*|ABCA5_ENST00000588877.1_Nonsense_Mutation_p.Q918*			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	918					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.Q918*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	GCAGAATTTTGAAGAAGCAGA	0.393																																						uc002jif.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(2752-2754)CAA>TAA		ATP-binding cassette, sub-family A , member 5							109.0	109.0	109.0					17																	67270112		2203	4300	6503	SO:0001587	stop_gained	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67270112G>A	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.2752C>T	17.37:g.67270112G>A	ENSP00000376443:p.Gln918*					ABCA5_uc002jic.2_Nonsense_Mutation_p.Q141*|ABCA5_uc002jid.2_5'UTR|ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Nonsense_Mutation_p.Q918*|ABCA5_uc002jih.2_Nonsense_Mutation_p.Q918*|ABCA5_uc010dfe.2_Nonsense_Mutation_p.Q918*	p.Q918*	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN			19	3970	-	Breast(10;3.72e-11)		918					Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Nonsense_Mutation	SNP	ENST00000392676.3	37	c.2752C>T	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	G	50	16.886594	0.99874	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	.	.	.	5.53	4.56	0.56223	.	0.233115	0.30620	N	0.009235	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4366	0.67284	0.0721:0.0:0.9279:0.0	.	.	.	.	X	918	.	.	Q	-	1	0	ABCA5	64781707	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.938000	0.75904	1.469000	0.48083	0.585000	0.79938	CAA		0.393	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1		NM_018672		34	49	0	0	0	0.015359	0	34	49		
GGA3	23163	broad.mit.edu	37	17	73235955	73235955	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr17:73235955C>A	ENST00000245541.6	-	13	1714	c.1498G>T	c.(1498-1500)Gtc>Ttc	p.V500F	GGA3_ENST00000582717.1_Missense_Mutation_p.V428F|GGA3_ENST00000578348.1_Missense_Mutation_p.V378F|GGA3_ENST00000582486.1_Missense_Mutation_p.V428F|GGA3_ENST00000351904.7_Missense_Mutation_p.V467F|GGA3_ENST00000538886.1_Missense_Mutation_p.V378F	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	500	Unstructured hinge.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)	p.V500F(1)		breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			TGCCCAGGGACTGCGGGCTCA	0.617																																						uc002jni.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|breast(1)	2						c.(1498-1500)GTC>TTC		ADP-ribosylation factor binding protein 3							39.0	33.0	35.0					17																	73235955		2203	4300	6503	SO:0001583	missense	23163				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding	g.chr17:73235955C>A	AF190864	CCDS11716.1, CCDS11717.1, CCDS54164.1, CCDS58597.1	17q25	2010-02-12	2010-02-12			ENSG00000125447			17079	protein-coding gene	gene with protein product		606006				10747089, 10749927	Standard	NR_033345		Approved	KIAA0154	uc002jni.2	Q9NZ52		ENST00000245541.6:c.1498G>T	17.37:g.73235955C>A	ENSP00000245541:p.Val500Phe					GGA3_uc002jnj.1_Missense_Mutation_p.V467F|GGA3_uc010wrw.1_Missense_Mutation_p.V378F|GGA3_uc002jnk.1_Missense_Mutation_p.V428F|GGA3_uc010wrx.1_Missense_Mutation_p.V378F|GGA3_uc010wry.1_Missense_Mutation_p.V428F	p.V500F	NM_138619	NP_619525	Q9NZ52	GGA3_HUMAN	all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)		13	1507	-			500			Unstructured hinge.		B7Z7E2|B7Z7M9|J3KRN0|Q15017|Q6IS16|Q9UJY3	Missense_Mutation	SNP	ENST00000245541.6	37	c.1498G>T	CCDS11717.1	.	.	.	.	.	.	.	.	.	.	C	2.509	-0.313304	0.05422	.	.	ENSG00000125447	ENST00000245541;ENST00000351904;ENST00000537584;ENST00000538886	T;T	0.47869	2.15;0.83	4.58	3.58	0.41010	.	0.931881	0.09056	N	0.855066	T	0.29684	0.0741	N	0.22421	0.69	0.20074	N	0.999935	P;P;B	0.34909	0.475;0.467;0.412	B;B;B	0.31614	0.087;0.116;0.133	T	0.08006	-1.0743	10	0.08599	T	0.76	-13.5734	9.311	0.37905	0.0:0.8203:0.0:0.1797	.	378;467;500	B7Z7E2;Q9NZ52-2;Q9NZ52	.;.;GGA3_HUMAN	F	500;467;428;378	ENSP00000245541:V500F;ENSP00000326575:V467F	ENSP00000245541:V500F	V	-	1	0	GGA3	70747550	0.048000	0.20356	0.001000	0.08648	0.008000	0.06430	0.356000	0.20181	1.090000	0.41315	0.655000	0.94253	GTC		0.617	GGA3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446645.1		NM_138619		8	24	1	0	3.07112e-06	0.010729	3.22968e-06	8	24		
FSCN2	25794	broad.mit.edu	37	17	79496104	79496104	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr17:79496104C>G	ENST00000417245.2	+	1	683	c.547C>G	c.(547-549)Cgg>Ggg	p.R183G	RP13-766D20.2_ENST00000430912.1_RNA|RP13-766D20.2_ENST00000442532.1_RNA|FSCN2_ENST00000334850.7_Missense_Mutation_p.R183G	NM_001077182.2|NM_012418.3	NP_001070650.1|NP_036550.1	O14926	FSCN2_HUMAN	fascin actin-bundling protein 2, retinal	183					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|anatomical structure morphogenesis (GO:0009653)|eye photoreceptor cell development (GO:0042462)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|stereocilium (GO:0032420)	actin binding (GO:0003779)|actin filament binding (GO:0051015)	p.R183G(2)		endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CCGGAGCCGACGGTACTGCCT	0.682																																						uc010wup.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(547-549)CGG>GGG		fascin 2 isoform 1							8.0	11.0	10.0					17																	79496104		2117	4213	6330	SO:0001583	missense	25794				actin filament bundle assembly|anatomical structure morphogenesis|visual perception	actin cytoskeleton|cytoplasm|stereocilium	actin filament binding|protein binding, bridging	g.chr17:79496104C>G	AF030165	CCDS45810.1, CCDS45811.1	17q25	2014-02-03	2014-02-03		ENSG00000186765	ENSG00000186765		"""Fascins"""	3960	protein-coding gene	gene with protein product		607643	"""fascin (Strongylocentrotus purpuratus) homolog 2 (actin-bundling protein, retinal)"", ""fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)"""			10234509	Standard	NM_012418		Approved	RP30, RFSN	uc010wuo.2	O14926	OTTHUMG00000167477	ENST00000417245.2:c.547C>G	17.37:g.79496104C>G	ENSP00000388716:p.Arg183Gly					FSCN2_uc010wuo.1_Missense_Mutation_p.R183G	p.R183G	NM_012418	NP_036550	O14926	FSCN2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)		1	688	+	all_neural(118;0.0878)|Melanoma(429;0.242)		183					A0AVC4|A8MRA6	Missense_Mutation	SNP	ENST00000417245.2	37	c.547C>G	CCDS45811.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.363192	0.24684	.	.	ENSG00000186765	ENST00000417245;ENST00000334850	T;T	0.33216	1.42;1.42	4.83	3.82	0.43975	Fascin domain (1);Actin cross-linking (1);	0.196908	0.41001	D	0.000969	T	0.26882	0.0658	L	0.38838	1.175	0.27185	N	0.960559	B;B	0.23854	0.092;0.01	B;B	0.31812	0.136;0.036	T	0.20907	-1.0261	10	0.45353	T	0.12	-19.1895	10.7756	0.46348	0.4742:0.5258:0.0:0.0	.	183;183	O14926;A8MRA6	FSCN2_HUMAN;.	G	183	ENSP00000388716:R183G;ENSP00000334665:R183G	ENSP00000334665:R183G	R	+	1	2	FSCN2	77110699	0.013000	0.17824	0.645000	0.29479	0.537000	0.34900	2.039000	0.41193	0.942000	0.37525	0.460000	0.39030	CGG		0.682	FSCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394746.1		NM_012418		4	7	0	0	0	0.009096	0	4	7		
TYMS	7298	broad.mit.edu	37	18	670747	670747	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr18:670747G>A	ENST00000323274.10	+	5	751	c.612G>A	c.(610-612)gtG>gtA	p.V204V	TYMS_ENST00000323224.7_Silent_p.V170V|TYMS_ENST00000323250.5_Silent_p.V121V|TYMS_ENST00000581920.1_3'UTR	NM_001071.2	NP_001062.1	P04818	TYSY_HUMAN	thymidylate synthetase	204					aging (GO:0007568)|cartilage development (GO:0051216)|circadian rhythm (GO:0007623)|deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|developmental growth (GO:0048589)|dTMP biosynthetic process (GO:0006231)|dTTP biosynthetic process (GO:0006235)|dUMP metabolic process (GO:0046078)|G1/S transition of mitotic cell cycle (GO:0000082)|immortalization of host cell by virus (GO:0019088)|intestinal epithelial cell maturation (GO:0060574)|mitotic cell cycle (GO:0000278)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|organ regeneration (GO:0031100)|polysaccharide metabolic process (GO:0005976)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to organophosphorus (GO:0046683)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|response to vitamin A (GO:0033189)|small molecule metabolic process (GO:0044281)|tetrahydrofolate metabolic process (GO:0046653)|uracil metabolic process (GO:0019860)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cofactor binding (GO:0048037)|drug binding (GO:0008144)|folic acid binding (GO:0005542)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|thymidylate synthase activity (GO:0004799)	p.V204V(1)		endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2)	8					Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Methotrexate(DB00563)|Pemetrexed(DB00642)|Pralatrexate(DB06813)|Raltitrexed(DB00293)|Trifluridine(DB00432)|Trimethoprim(DB00440)	TCTATGTGGTGAACAGTGAGC	0.552																																						uc010dka.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(610-612)GTG>GTA		thymidylate synthase	Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Pemetrexed(DB00642)|Raltitrexed(DB00293)|Trifluridine(DB00432)						170.0	140.0	150.0					18																	670747		2203	4300	6503	SO:0001819	synonymous_variant	7298				DNA repair|DNA replication|phosphatidylinositol-mediated signaling|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to organophosphorus	cytosol	thymidylate synthase activity	g.chr18:670747G>A	X02308	CCDS11821.1	18p11.31-p11.21	2014-09-17			ENSG00000176890	ENSG00000176890	2.1.1.45		12441	protein-coding gene	gene with protein product		188350		TS			Standard	NM_001071		Approved	Tsase, TMS, HsT422	uc010dka.1	P04818	OTTHUMG00000131473	ENST00000323274.10:c.612G>A	18.37:g.670747G>A						TYMS_uc010dkb.1_Silent_p.V170V|TYMS_uc010dkc.1_Silent_p.V121V	p.V204V	NM_001071	NP_001062	P04818	TYSY_HUMAN			5	751	+			204					Q8WYK3|Q8WYK4	Silent	SNP	ENST00000323274.10	37	c.612G>A	CCDS11821.1																																																																																				0.552	TYMS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254316.1		NM_001071		32	45	0	0	0	0.013726	0	32	45		
TYMS	7298	broad.mit.edu	37	18	670754	670754	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr18:670754G>A	ENST00000323274.10	+	5	758	c.619G>A	c.(619-621)Gag>Aag	p.E207K	TYMS_ENST00000323224.7_Missense_Mutation_p.E173K|TYMS_ENST00000323250.5_Missense_Mutation_p.E124K|TYMS_ENST00000581920.1_3'UTR	NM_001071.2	NP_001062.1	P04818	TYSY_HUMAN	thymidylate synthetase	207					aging (GO:0007568)|cartilage development (GO:0051216)|circadian rhythm (GO:0007623)|deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|developmental growth (GO:0048589)|dTMP biosynthetic process (GO:0006231)|dTTP biosynthetic process (GO:0006235)|dUMP metabolic process (GO:0046078)|G1/S transition of mitotic cell cycle (GO:0000082)|immortalization of host cell by virus (GO:0019088)|intestinal epithelial cell maturation (GO:0060574)|mitotic cell cycle (GO:0000278)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|organ regeneration (GO:0031100)|polysaccharide metabolic process (GO:0005976)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to organophosphorus (GO:0046683)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|response to vitamin A (GO:0033189)|small molecule metabolic process (GO:0044281)|tetrahydrofolate metabolic process (GO:0046653)|uracil metabolic process (GO:0019860)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cofactor binding (GO:0048037)|drug binding (GO:0008144)|folic acid binding (GO:0005542)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|thymidylate synthase activity (GO:0004799)	p.E207K(1)		endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2)	8					Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Methotrexate(DB00563)|Pemetrexed(DB00642)|Pralatrexate(DB06813)|Raltitrexed(DB00293)|Trifluridine(DB00432)|Trimethoprim(DB00440)	GGTGAACAGTGAGCTGTCCTG	0.567																																						uc010dka.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(619-621)GAG>AAG		thymidylate synthase	Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Pemetrexed(DB00642)|Raltitrexed(DB00293)|Trifluridine(DB00432)						175.0	143.0	154.0					18																	670754		2203	4300	6503	SO:0001583	missense	7298				DNA repair|DNA replication|phosphatidylinositol-mediated signaling|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to organophosphorus	cytosol	thymidylate synthase activity	g.chr18:670754G>A	X02308	CCDS11821.1	18p11.31-p11.21	2014-09-17			ENSG00000176890	ENSG00000176890	2.1.1.45		12441	protein-coding gene	gene with protein product		188350		TS			Standard	NM_001071		Approved	Tsase, TMS, HsT422	uc010dka.1	P04818	OTTHUMG00000131473	ENST00000323274.10:c.619G>A	18.37:g.670754G>A	ENSP00000315644:p.Glu207Lys					TYMS_uc010dkb.1_Missense_Mutation_p.E173K|TYMS_uc010dkc.1_Missense_Mutation_p.E124K	p.E207K	NM_001071	NP_001062	P04818	TYSY_HUMAN			5	758	+			207					Q8WYK3|Q8WYK4	Missense_Mutation	SNP	ENST00000323274.10	37	c.619G>A	CCDS11821.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.463758	0.84425	.	.	ENSG00000176890	ENST00000323274;ENST00000323224;ENST00000323250	.	.	.	6.09	6.09	0.99107	Thymidylate synthase/dCMP hydroxymethylase domain (2);	0.000000	0.85682	D	0.000000	T	0.54615	0.1869	N	0.25144	0.715	0.80722	D	1	P;P;P	0.47409	0.895;0.673;0.816	P;P;B	0.52159	0.691;0.6;0.424	T	0.42015	-0.9476	9	0.05959	T	0.93	-7.2152	20.6789	0.99705	0.0:0.0:1.0:0.0	.	124;173;207	Q8WYK4;Q8WYK3;P04818	.;.;TYSY_HUMAN	K	207;173;124	.	ENSP00000314727:E173K	E	+	1	0	TYMS	660754	1.000000	0.71417	0.987000	0.45799	0.979000	0.70002	9.651000	0.98493	2.891000	0.99171	0.655000	0.94253	GAG		0.567	TYMS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254316.1		NM_001071		30	46	0	0	0	0.012213	0	30	46		
CHMP1B	57132	broad.mit.edu	37	18	11851604	11851604	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr18:11851604G>A	ENST00000526991.2	+	1	210	c.94G>A	c.(94-96)Gaa>Aaa	p.E32K	GNAL_ENST00000269162.5_Intron|GNAL_ENST00000535121.1_Intron|RP11-78A19.3_ENST00000586474.1_RNA|GNAL_ENST00000423027.3_Intron|GNAL_ENST00000334049.6_Intron	NM_020412.4	NP_065145.2	Q7LBR1	CHM1B_HUMAN	charged multivesicular body protein 1B	32					cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|protein transport (GO:0015031)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein domain specific binding (GO:0019904)	p.E32K(2)		endometrium(1)|lung(1)|urinary_tract(1)	3						GGAAAAGGCCGAAAAGGCCAA	0.473																																						uc002kqe.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(94-96)GAA>AAA		chromatin modifying protein 1B							41.0	41.0	41.0					18																	11851604		1936	4139	6075	SO:0001583	missense	57132				cell cycle|cell division|protein transport	cytosol|late endosome membrane	protein domain specific binding	g.chr18:11851604G>A	AF306520	CCDS54180.1	18p11.21	2011-09-21	2011-09-21		ENSG00000255112	ENSG00000255112		"""Charged multivesicular body proteins"""	24287	protein-coding gene	gene with protein product		606486	"""chromatin modifying protein 1B"""			15537668	Standard	NM_020412		Approved	CHMP1.5, C18orf2, Vps46B	uc002kqe.3	Q7LBR1	OTTHUMG00000165820	ENST00000526991.2:c.94G>A	18.37:g.11851604G>A	ENSP00000432279:p.Glu32Lys					GNAL_uc002kqc.2_Intron|GNAL_uc010dkz.2_Intron|GNAL_uc002kqd.2_Intron	p.E32K	NM_020412	NP_065145	Q7LBR1	CHM1B_HUMAN			1	216	+			32			Potential.		Q96E89|Q9HD41	Missense_Mutation	SNP	ENST00000526991.2	37	c.94G>A	CCDS54180.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.987015	0.93106	.	.	ENSG00000255112	ENST00000526991	T	0.73363	-0.74	5.17	4.3	0.51218	.	.	.	.	.	D	0.87861	0.6284	H	0.94964	3.605	0.58432	D	0.999998	D	0.69078	0.997	P	0.62491	0.903	D	0.90516	0.4485	9	0.72032	D	0.01	.	12.0133	0.53299	0.0839:0.0:0.9161:0.0	.	32	Q7LBR1	CHM1B_HUMAN	K	32	ENSP00000432279:E32K	ENSP00000432279:E32K	E	+	1	0	CHMP1B	11841604	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	5.888000	0.69758	1.558000	0.49541	0.655000	0.94253	GAA		0.473	CHMP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386375.2		NM_020412		6	9	0	0	0	0.021553	0	6	9		
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T	rs201788045		TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358																																						uc010dln.2		NaN																	12	Substitution - Missense(12)		endometrium(4)|kidney(3)|urinary_tract(2)|prostate(2)|soft_tissue(1)	skin(3)	3						c.(1429-1431)CGG>CAG		ANKRD26-like family B, member 2							13.0	9.0	10.0					18																	14513764		683	1543	2226	SO:0001583	missense	388468							g.chr18:14513764C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1430G>A	18.37:g.14513764C>T	ENSP00000351856:p.Arg477Gln					POTEC_uc010xaj.1_RNA	p.R477Q	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN			10	1884	-			477						Missense_Mutation	SNP	ENST00000358970.5	37	c.1430G>A	CCDS45835.1	492	0.22527472527472528	61	0.12398373983739837	82	0.2265193370165746	187	0.3269230769230769	162	0.21372031662269128	c	0.001	-3.539655	0.00009	.	.	ENSG00000183206	ENST00000358970	T	0.20881	2.04	1.34	0.0657	0.14358	.	.	.	.	.	T	0.00012	0.0000	N	0.00116	-2.08	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42430	-0.9452	9	0.06757	T	0.87	.	3.4153	0.07373	0.0:0.2473:0.0:0.7527	.	477	B2RU33	POTEC_HUMAN	Q	477	ENSP00000351856:R477Q	ENSP00000351856:R477Q	R	-	2	0	POTEC	14503764	0.885000	0.30320	0.063000	0.19743	0.005000	0.04900	1.581000	0.36558	0.005000	0.14708	-1.615000	0.00797	CGG		0.358	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1		XM_496269		4	37	0	0	0	0.014758	0	4	37		
RPRD1A	55197	broad.mit.edu	37	18	33607165	33607165	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr18:33607165G>A	ENST00000399022.4	-	5	766	c.595C>T	c.(595-597)Cta>Tta	p.L199L	RPRD1A_ENST00000337059.5_Silent_p.L163L|RPRD1A_ENST00000357384.4_Silent_p.L199L|RPRD1A_ENST00000588737.1_Silent_p.L163L|RPRD1A_ENST00000319040.6_Silent_p.L199L|RPRD1A_ENST00000590898.1_Silent_p.L163L	NM_018170.3	NP_060640.2	Q96P16	RPR1A_HUMAN	regulation of nuclear pre-mRNA domain containing 1A	199					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)		p.L199L(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						TTATCTAATAGAGATACTTCT	0.368																																						uc002kzf.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|breast(1)	2						c.(595-597)CTA>TTA		regulation of nuclear pre-mRNA domain containing							90.0	92.0	92.0					18																	33607165		2203	4300	6503	SO:0001819	synonymous_variant	55197							g.chr18:33607165G>A	AF419845	CCDS11917.1	18q12.2	2012-02-09	2008-08-15		ENSG00000141425	ENSG00000141425			25560	protein-coding gene	gene with protein product	"""cyclin-dependent kinase 2B-inhibitor-related protein"", ""Cyclin-dependent kinase inhibitor 2B-related protein (p15INK4B-related protein)"""	610347				12470661, 22231121	Standard	NM_018170		Approved	P15RS, FLJ10656, HsT3101	uc002kzg.3	Q96P16	OTTHUMG00000132591	ENST00000399022.4:c.595C>T	18.37:g.33607165G>A						RPRD1A_uc002kze.1_Silent_p.L163L|RPRD1A_uc002kzg.2_Silent_p.L199L|RPRD1A_uc010dmw.2_Silent_p.L163L|RPRD1A_uc010dmx.2_Silent_p.L199L	p.L199L	NM_018170	NP_060640	Q96P16	RPR1A_HUMAN			5	601	-			199					A8KA42|B2RBA3|Q7Z5G8|Q96FY9|Q9NVL4	Silent	SNP	ENST00000399022.4	37	c.595C>T	CCDS11917.1																																																																																				0.368	RPRD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255802.1		NM_018170		26	60	0	0	0	0.027356	0	26	60		
MYO5B	4645	broad.mit.edu	37	18	47363122	47363122	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr18:47363122C>G	ENST00000285039.7	-	38	5571	c.5272G>C	c.(5272-5274)Gag>Cag	p.E1758Q	MYO5B_ENST00000592688.1_Missense_Mutation_p.E328Q|MYO5B_ENST00000324581.6_Missense_Mutation_p.E873Q|RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.E81Q|SCARNA17_ENST00000589499.1_RNA	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1758	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)	p.E1758Q(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CAGATAGCCTCTGCGTCCTCC	0.532																																						uc002leb.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(5272-5274)GAG>CAG		myosin VB							91.0	92.0	92.0					18																	47363122		1959	4136	6095	SO:0001583	missense	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47363122C>G	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.5272G>C	18.37:g.47363122C>G	ENSP00000285039:p.Glu1758Gln					MYO5B_uc002ldz.2_Missense_Mutation_p.E328Q|MYO5B_uc002lea.2_Missense_Mutation_p.E873Q	p.E1758Q	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	38	5560	-			1758			Dilute.		B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	c.5272G>C	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.057802	0.76074	.	.	ENSG00000167306	ENST00000285039;ENST00000324581	D;T	0.87809	-2.3;2.28	4.77	4.77	0.60923	Dilute (1);Dil domain (1);	0.000000	0.64402	D	0.000001	D	0.89839	0.6831	L	0.35593	1.075	0.80722	D	1	P;D	0.89917	0.624;1.0	B;D	0.91635	0.395;0.999	D	0.88614	0.3158	10	0.34782	T	0.22	.	17.9652	0.89098	0.0:1.0:0.0:0.0	.	1758;873	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	Q	1758;873	ENSP00000285039:E1758Q;ENSP00000315531:E873Q	ENSP00000285039:E1758Q	E	-	1	0	MYO5B	45617120	0.998000	0.40836	0.953000	0.39169	0.701000	0.40568	3.912000	0.56386	2.628000	0.89032	0.655000	0.94253	GAG		0.532	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2				23	30	0	0	0	0.021523	0	23	30		
REXO1	57455	broad.mit.edu	37	19	1818820	1818820	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:1818820G>A	ENST00000170168.4	-	9	2881	c.2787C>T	c.(2785-2787)ctC>ctT	p.L929L	CTB-31O20.3_ENST00000586259.1_RNA|MIR1909_ENST00000411312.1_RNA	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	929						nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)	p.L929L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|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)		GGTACTCCCTGAGGCGGCTGT	0.677																																						uc002lua.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(2785-2787)CTC>CTT		transcription elongation factor B polypeptide 3							17.0	18.0	17.0					19																	1818820		2201	4294	6495	SO:0001819	synonymous_variant	57455					nucleus	exonuclease activity|nucleic acid binding	g.chr19:1818820G>A	AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"""elongin A binding protein 1"""	609614	"""transcription elongation factor B polypeptide 3 binding protein 1"""	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.2787C>T	19.37:g.1818820G>A						REXO1_uc010dsq.2_Silent_p.L238L|REXO1_uc010xgs.1_5'UTR|MIR1909_hsa-mir-1909|MI0008330_5'Flank|REXO1_uc010dsp.1_RNA	p.L929L	NM_020695	NP_065746	Q8N1G1	REXO1_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)	9	2882	-		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)	929					Q9ULT2	Silent	SNP	ENST00000170168.4	37	c.2787C>T	CCDS32866.1																																																																																				0.677	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1		NM_020695		8	17	0	0	0	0.004482	0	8	17		
TICAM1	148022	broad.mit.edu	37	19	4816641	4816641	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:4816641C>A	ENST00000248244.5	-	2	1978	c.1749G>T	c.(1747-1749)caG>caT	p.Q583H		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	583	Sufficient to induce apoptosis.				apoptotic signaling pathway (GO:0097190)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of protein homodimerization activity (GO:0043496)|response to exogenous dsRNA (GO:0043330)|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)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|ripoptosome (GO:0097342)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.Q583H(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GCTGCTCCATCTGTGCCTGGT	0.632																																						uc002mbi.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(1)	1						c.(1747-1749)CAG>CAT		toll-like receptor adaptor molecule 1							74.0	67.0	69.0					19																	4816641		2203	4300	6503	SO:0001583	missense	148022				apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity	g.chr19:4816641C>A	AB086380	CCDS12136.1	19p13.3	2014-09-17				ENSG00000127666			18348	protein-coding gene	gene with protein product		607601				12539043, 12471095	Standard	NM_182919		Approved	TRIF, TICAM-1, MGC35334, PRVTIRB	uc002mbi.4	Q8IUC6		ENST00000248244.5:c.1749G>T	19.37:g.4816641C>A	ENSP00000248244:p.Gln583His						p.Q583H	NM_182919	NP_891549	Q8IUC6	TCAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)	2	2000	-			583			Sufficient to induce apoptosis.		B3Y691|O75532|Q86XP8|Q96GA0	Missense_Mutation	SNP	ENST00000248244.5	37	c.1749G>T	CCDS12136.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.098664	0.56183	.	.	ENSG00000127666	ENST00000248244	T	0.52754	0.65	4.8	2.61	0.31194	.	0.221024	0.22824	N	0.055188	T	0.55832	0.1945	L	0.60455	1.87	0.09310	N	1	D	0.71674	0.998	P	0.61397	0.888	T	0.43343	-0.9397	10	0.45353	T	0.12	-17.069	7.7304	0.28783	0.0:0.7988:0.0:0.2012	.	583	Q8IUC6	TCAM1_HUMAN	H	583	ENSP00000248244:Q583H	ENSP00000248244:Q583H	Q	-	3	2	TICAM1	4767641	0.901000	0.30685	0.230000	0.23976	0.325000	0.28411	1.620000	0.36976	0.522000	0.28464	0.462000	0.41574	CAG		0.632	TICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450435.1		NM_014261		5	42	1	0	3.59834e-05	0.021553	3.73339e-05	5	42		
TICAM1	148022	broad.mit.edu	37	19	4816911	4816911	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:4816911C>G	ENST00000248244.5	-	2	1708	c.1479G>C	c.(1477-1479)gaG>gaC	p.E493D		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	493					apoptotic signaling pathway (GO:0097190)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of protein homodimerization activity (GO:0043496)|response to exogenous dsRNA (GO:0043330)|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)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|ripoptosome (GO:0097342)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.E493D(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CCGGGGAGCTCTCCAGGGGCA	0.652																																						uc002mbi.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(1)	1						c.(1477-1479)GAG>GAC		toll-like receptor adaptor molecule 1							36.0	34.0	35.0					19																	4816911		2203	4299	6502	SO:0001583	missense	148022				apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity	g.chr19:4816911C>G	AB086380	CCDS12136.1	19p13.3	2014-09-17				ENSG00000127666			18348	protein-coding gene	gene with protein product		607601				12539043, 12471095	Standard	NM_182919		Approved	TRIF, TICAM-1, MGC35334, PRVTIRB	uc002mbi.4	Q8IUC6		ENST00000248244.5:c.1479G>C	19.37:g.4816911C>G	ENSP00000248244:p.Glu493Asp						p.E493D	NM_182919	NP_891549	Q8IUC6	TCAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)	2	1730	-			493	E->A: Loss of TCAM1-induced NF-kappa-B and IRF3 activation.				B3Y691|O75532|Q86XP8|Q96GA0	Missense_Mutation	SNP	ENST00000248244.5	37	c.1479G>C	CCDS12136.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.280676	0.59758	.	.	ENSG00000127666	ENST00000248244	T	0.56275	0.47	4.73	1.13	0.20643	.	0.233261	0.22324	N	0.061559	T	0.46964	0.1420	M	0.72894	2.215	0.09310	N	0.999997	B	0.24483	0.104	B	0.24848	0.056	T	0.46303	-0.9201	10	0.62326	D	0.03	-15.4816	5.8396	0.18627	0.0:0.5222:0.2979:0.1799	.	493	Q8IUC6	TCAM1_HUMAN	D	493	ENSP00000248244:E493D	ENSP00000248244:E493D	E	-	3	2	TICAM1	4767911	0.840000	0.29493	0.004000	0.12327	0.819000	0.46315	0.379000	0.20585	0.114000	0.18032	0.313000	0.20887	GAG		0.652	TICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450435.1		NM_014261		6	29	0	0	0	0.001984	0	6	29		
INSR	3643	broad.mit.edu	37	19	7267597	7267597	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:7267597C>T	ENST00000302850.5	-	2	553	c.411G>A	c.(409-411)atG>atA	p.M137I	INSR_ENST00000341500.5_Missense_Mutation_p.M137I	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	137	Leu-rich.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)	p.M137I(2)		breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	GGGTGATGTTCATCAGGTTGT	0.522																																						uc002mgd.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12						c.(409-411)ATG>ATA		insulin receptor isoform Long precursor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						100.0	89.0	93.0					19																	7267597		2203	4300	6503	SO:0001583	missense	3643				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	g.chr19:7267597C>T	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.411G>A	19.37:g.7267597C>T	ENSP00000303830:p.Met137Ile					INSR_uc002mge.1_Missense_Mutation_p.M137I|INSR_uc002mgf.2_Missense_Mutation_p.M137I	p.M137I	NM_000208	NP_000199	P06213	INSR_HUMAN			2	520	-			137					Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	ENST00000302850.5	37	c.411G>A	CCDS12176.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.318446	0.40996	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	T;T	0.79352	-1.26;-1.26	5.07	5.07	0.68467	EGF receptor, L domain (1);	0.000000	0.53938	U	0.000048	T	0.72843	0.3511	L	0.37561	1.115	0.80722	D	1	B;B;B	0.29531	0.054;0.208;0.247	B;B;B	0.34931	0.192;0.121;0.192	T	0.73129	-0.4080	10	0.52906	T	0.07	.	15.9627	0.79941	0.0:1.0:0.0:0.0	.	128;137;137	Q86WY9;P06213-2;P06213	.;.;INSR_HUMAN	I	137	ENSP00000303830:M137I;ENSP00000342838:M137I	ENSP00000303830:M137I	M	-	3	0	INSR	7218597	1.000000	0.71417	1.000000	0.80357	0.421000	0.31385	3.574000	0.53863	2.349000	0.79799	0.544000	0.68410	ATG		0.522	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1				15	44	0	0	0	0.020292	0	15	44		
MUC16	94025	broad.mit.edu	37	19	8999519	8999519	+	Silent	SNP	G	G	C	rs369032555		TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:8999519G>C	ENST00000397910.4	-	56	40859	c.40656C>G	c.(40654-40656)acC>acG	p.T13552T	MUC16_ENST00000380951.5_Silent_p.T193T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13554	SEA 10. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.T237T(1)|p.T13552T(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGGGCGGTAGGTGCAGATGG	0.597																																						uc002mkp.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(40654-40656)ACC>ACG		mucin 16		G		0,3880		0,0,1940	107.0	92.0	97.0		40656	-1.7	0.0	19		97	2,8278		0,2,4138	no	coding-synonymous	MUC16	NM_024690.2		0,2,6078	CC,CG,GG		0.0242,0.0,0.0164		13552/14508	8999519	2,12158	1940	4140	6080	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8999519G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.40656C>G	19.37:g.8999519G>C						MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Silent_p.T369T|MUC16_uc010xki.1_RNA	p.T13552T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			56	40860	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.40656C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	3.307	-0.141654	0.06669	0.0	2.42E-4	ENSG00000181143	ENST00000542240	.	.	.	3.48	-1.67	0.08238	.	.	.	.	.	T	0.24967	0.0606	.	.	.	.	.	.	.	.	.	.	.	.	T	0.31308	-0.9948	3	.	.	.	-7.3668	2.607	0.04880	0.4113:0.0:0.3722:0.2164	.	.	.	.	R	392	.	.	P	-	2	0	MUC16	8860519	0.000000	0.05858	0.016000	0.15963	0.032000	0.12392	-0.768000	0.04715	-0.007000	0.14345	0.555000	0.69702	CCT		0.597	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		40	63	0	0	0	0.027894	0	40	63		
QTRT1	81890	broad.mit.edu	37	19	10812162	10812162	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:10812162C>T	ENST00000250237.5	+	1	36	c.26C>T	c.(25-27)tCc>tTc	p.S9F	QTRT1_ENST00000585885.1_3'UTR	NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	9					queuosine biosynthetic process (GO:0008616)|tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|queuine tRNA-ribosyltransferase activity (GO:0008479)	p.S9F(1)		large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			ACCCAGGCTTCCCTGGAGTCG	0.692																																						uc002mpr.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(25-27)TCC>TTC		queuine tRNA-ribosyltransferase 1							13.0	14.0	14.0					19																	10812162		2138	4174	6312	SO:0001583	missense	81890				queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity	g.chr19:10812162C>T	AF302783	CCDS12248.1	19p13.3	2014-06-11	2008-07-31		ENSG00000213339	ENSG00000213339	2.4.2.29		23797	protein-coding gene	gene with protein product	"""tRNA-guanine transglycosylase"""	609615				20354154	Standard	NM_031209		Approved	TGT	uc002mpr.3	Q9BXR0		ENST00000250237.5:c.26C>T	19.37:g.10812162C>T	ENSP00000250237:p.Ser9Phe						p.S9F	NM_031209	NP_112486	Q9BXR0	TGT_HUMAN	Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)		1	51	+			9					B4DFM7|Q96BQ4|Q9BXQ9	Missense_Mutation	SNP	ENST00000250237.5	37	c.26C>T	CCDS12248.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.591972	0.66219	.	.	ENSG00000213339	ENST00000250237;ENST00000421333	.	.	.	5.77	4.74	0.60224	.	0.715205	0.12136	U	0.496353	T	0.22437	0.0541	N	0.08118	0	0.09310	N	1	B	0.32653	0.379	B	0.33799	0.17	T	0.13442	-1.0509	9	0.72032	D	0.01	-7.0671	11.4246	0.50003	0.0:0.916:0.0:0.084	.	9	Q9BXR0	TGT_HUMAN	F	9	.	ENSP00000250237:S9F	S	+	2	0	QTRT1	10673162	0.003000	0.15002	0.020000	0.16555	0.312000	0.27988	1.483000	0.35497	2.751000	0.94390	0.650000	0.86243	TCC		0.692	QTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452086.1		NM_031209		3	14	0	0	0	0.004672	0	3	14		
SMARCA4	6597	broad.mit.edu	37	19	11123707	11123707	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq;WGS			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:11123707C>A	ENST00000429416.3	+	17	2638	c.2357C>A	c.(2356-2358)aCc>aAc	p.T786N	SMARCA4_ENST00000444061.3_Missense_Mutation_p.T786N|SMARCA4_ENST00000413806.3_Missense_Mutation_p.T786N|SMARCA4_ENST00000344626.4_Missense_Mutation_p.T786N|SMARCA4_ENST00000358026.2_Missense_Mutation_p.T786N|SMARCA4_ENST00000590574.1_Missense_Mutation_p.T786N|SMARCA4_ENST00000450717.3_Missense_Mutation_p.T786N|RN7SL192P_ENST00000584303.1_RNA|SMARCA4_ENST00000541122.2_Missense_Mutation_p.T786N|CTC-215O4.4_ENST00000587831.1_RNA|SMARCA4_ENST00000589677.1_Missense_Mutation_p.T786N	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	786	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.T786N(2)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CTGGGGAAGACCATCCAGACC	0.577			"""F, N, Mis"""		NSCLC																																	uc002mqf.3		NaN		Rec	yes		19	19p13.2	6597	F|N|Mis	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		3	Substitution - Missense(2)|Unknown(1)	p.?(1)	urinary_tract(2)|lung(1)	lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67						c.(2356-2358)ACC>AAC		SWI/SNF-related matrix-associated							180.0	112.0	135.0					19																	11123707		2203	4300	6503	SO:0001583	missense	6597	Rhabdoid_Predisposition_syndrome			chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11123707C>A	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.2357C>A	19.37:g.11123707C>A	ENSP00000395654:p.Thr786Asn					SMARCA4_uc010dxp.2_Missense_Mutation_p.T786N|SMARCA4_uc010dxo.2_Missense_Mutation_p.T786N|SMARCA4_uc002mqg.1_Missense_Mutation_p.T786N|SMARCA4_uc010dxq.2_Missense_Mutation_p.T786N|SMARCA4_uc010dxr.2_Missense_Mutation_p.T786N|SMARCA4_uc002mqj.3_Missense_Mutation_p.T786N|SMARCA4_uc010dxs.2_Missense_Mutation_p.T786N|SMARCA4_uc010dxt.1_Missense_Mutation_p.T6N	p.T786N	NM_003072	NP_003063	P51532	SMCA4_HUMAN			16	2641	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	786			Helicase ATP-binding.|ATP (Potential).		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.2357C>A	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.731270	0.89390	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.99292	-5.7;-5.7;-5.7;-5.7;-5.7;-5.7;-5.7	4.73	4.73	0.59995	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.99760	0.9903	H	0.99777	4.77	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.999;1.0;1.0	D	0.96608	0.9450	10	0.87932	D	0	-47.2375	16.6409	0.85098	0.0:1.0:0.0:0.0	.	786;786;786;786;786;786;786	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	N	786;786;850;786;786;786;786;786	ENSP00000395654:T786N;ENSP00000350720:T786N;ENSP00000343896:T786N;ENSP00000445036:T786N;ENSP00000392837:T786N;ENSP00000397783:T786N;ENSP00000414727:T786N	ENSP00000343896:T786N	T	+	2	0	SMARCA4	10984707	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	7.651000	0.83577	2.456000	0.83038	0.655000	0.94253	ACC		0.577	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2		NM_003072		18	26	1	0	3.52763e-06	0.00499	3.69971e-06	18	26		
ZNF208	7757	broad.mit.edu	37	19	22156562	22156562	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:22156562T>C	ENST00000397126.4	-	4	1422	c.1274A>G	c.(1273-1275)tAc>tGc	p.Y425C	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	425					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.Y425C(3)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTCACATTTGTAGGGTTTCTC	0.388																																						uc002nqp.2		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	ovary(5)|skin(2)	7						c.(1273-1275)TAC>TGC		zinc finger protein 208							48.0	58.0	55.0					19																	22156562		2029	4221	6250	SO:0001583	missense	7757							g.chr19:22156562T>C	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1274A>G	19.37:g.22156562T>C	ENSP00000380315:p.Tyr425Cys					ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank	p.Y425C	NM_007153	NP_009084					4	1423	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.1274A>G	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	T	10.30	1.311164	0.23821	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.25414	1.8	2.65	2.65	0.31530	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18299	0.0439	.	.	.	0.09310	N	1	P	0.44281	0.831	B	0.37601	0.254	T	0.13899	-1.0492	8	0.72032	D	0.01	.	5.8222	0.18534	0.2369:0.0:0.0:0.7631	.	425	O43345	ZN208_HUMAN	C	425	ENSP00000380315:Y425C	ENSP00000380315:Y425C	Y	-	2	0	ZNF208	21948402	0.000000	0.05858	0.001000	0.08648	0.026000	0.11368	-0.192000	0.09587	0.856000	0.35383	0.254000	0.18369	TAC		0.388	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1		NM_007153		33	53	0	0	0	0.013726	0	33	53		
ZNF146	7705	broad.mit.edu	37	19	36728009	36728009	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:36728009C>T	ENST00000443387.2	+	4	1659	c.667C>T	c.(667-669)Cag>Tag	p.Q223*	ZNF565_ENST00000355114.5_Intron|ZNF146_ENST00000456324.1_Nonsense_Mutation_p.Q223*	NM_007145.2	NP_009076.2	Q15072	OZF_HUMAN	zinc finger protein 146	223	Interaction with TERF2IP.				regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.Q223*(1)		kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11	Esophageal squamous(110;0.162)					AGCCTTCTCTCAGAGCTCATC	0.443																																						uc002odq.3		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)		0						c.(667-669)CAG>TAG		zinc finger protein 146							165.0	146.0	152.0					19																	36728009		2203	4300	6503	SO:0001587	stop_gained	7705				regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding	g.chr19:36728009C>T	X70394	CCDS12492.1	19q13.1	2013-01-08				ENSG00000167635		"""Zinc fingers, C2H2-type"""	12931	protein-coding gene	gene with protein product		601505				10449921, 8641144	Standard	NM_001099639		Approved	OZF	uc010eeu.3	Q15072		ENST00000443387.2:c.667C>T	19.37:g.36728009C>T	ENSP00000392095:p.Gln223*					ZNF146_uc010eet.2_Nonsense_Mutation_p.Q223*|ZNF146_uc010eeu.2_Nonsense_Mutation_p.Q223*	p.Q223*	NM_007145	NP_009076	Q15072	OZF_HUMAN			4	2190	+	Esophageal squamous(110;0.162)		223			Interaction with TERF2IP.|C2H2-type 8.		Q2TB94	Nonsense_Mutation	SNP	ENST00000443387.2	37	c.667C>T	CCDS12492.1	.	.	.	.	.	.	.	.	.	.	C	48	13.940454	0.99771	.	.	ENSG00000167635	ENST00000443387;ENST00000456324	.	.	.	4.3	3.27	0.37495	.	0.000000	0.38326	N	0.001724	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-13.7476	7.1172	0.25423	0.1709:0.7375:0.0:0.0916	.	.	.	.	X	223	.	ENSP00000392095:Q223X	Q	+	1	0	ZNF146	41419849	0.000000	0.05858	1.000000	0.80357	0.985000	0.73830	-0.626000	0.05527	1.415000	0.47037	0.561000	0.74099	CAG		0.443	ZNF146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451706.1		NM_007145		47	75	0	0	0	0.011902	0	47	75		
ACTN4	81	broad.mit.edu	37	19	39214966	39214966	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:39214966C>A	ENST00000252699.2	+	15	1938	c.1862C>A	c.(1861-1863)tCc>tAc	p.S621Y	ACTN4_ENST00000390009.3_Missense_Mutation_p.S402Y|ACTN4_ENST00000424234.2_Missense_Mutation_p.S231Y	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	621					actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.S621Y(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ATCATCAACTCCAAGTGGGAG	0.667																																					Colon(168;199 1940 10254 46213 46384)	uc002oja.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1861-1863)TCC>TAC		actinin, alpha 4							39.0	40.0	40.0					19																	39214966		2203	4300	6503	SO:0001583	missense	81				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity	g.chr19:39214966C>A	D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"""EF-hand domain containing"""	166	protein-coding gene	gene with protein product		604638	"""focal segmental glomerulosclerosis 1"""	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.1862C>A	19.37:g.39214966C>A	ENSP00000252699:p.Ser621Tyr					ACTN4_uc002ojb.1_5'Flank	p.S621Y	NM_004924	NP_004915	O43707	ACTN4_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		15	1921	+	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		621			Spectrin 3.		A4K467|D6PXK4|O76048	Missense_Mutation	SNP	ENST00000252699.2	37	c.1862C>A	CCDS12518.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.167279	0.38315	.	.	ENSG00000130402	ENST00000252699;ENST00000424234;ENST00000390009;ENST00000440400	T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36	3.75	3.75	0.43078	.	0.441952	0.22666	N	0.057139	T	0.58047	0.2095	N	0.19112	0.55	0.42224	D	0.991863	B	0.26775	0.159	B	0.37144	0.242	T	0.63808	-0.6553	10	0.66056	D	0.02	.	14.8549	0.70329	0.0:1.0:0.0:0.0	.	621	O43707	ACTN4_HUMAN	Y	621;231;402;57	ENSP00000252699:S621Y;ENSP00000411187:S231Y;ENSP00000439497:S402Y;ENSP00000398393:S57Y	ENSP00000252699:S621Y	S	+	2	0	ACTN4	43906806	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.024000	0.30077	2.106000	0.64143	0.561000	0.74099	TCC		0.667	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268091.1				12	16	1	0	3.07112e-06	0.010729	3.22968e-06	12	16		
SPTBN4	57731	broad.mit.edu	37	19	41008156	41008156	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:41008156C>T	ENST00000352632.3	+	9	1105	c.1019C>T	c.(1018-1020)tCc>tTc	p.S340F	SPTBN4_ENST00000338932.3_Missense_Mutation_p.S340F|SPTBN4_ENST00000344104.3_Missense_Mutation_p.S340F|SPTBN4_ENST00000598249.1_Missense_Mutation_p.S340F|SPTBN4_ENST00000595535.1_Missense_Mutation_p.S340F			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	340					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.S340F(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TTTGCCAACTCCTTAAGTGGG	0.602																																						uc002ony.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(1018-1020)TCC>TTC		spectrin, beta, non-erythrocytic 4 isoform							53.0	56.0	55.0					19																	41008156		2203	4300	6503	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41008156C>T	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.1019C>T	19.37:g.41008156C>T	ENSP00000263373:p.Ser340Phe					SPTBN4_uc002onx.2_Missense_Mutation_p.S340F|SPTBN4_uc002onz.2_Missense_Mutation_p.S340F	p.S340F	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		9	1105	+			340			Spectrin 1.		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.1019C>T	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.317043	0.60524	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.72167	-0.63;-0.63;-0.63	3.42	3.42	0.39159	.	0.292311	0.22576	U	0.058274	D	0.82806	0.5117	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.995;0.998	D	0.85581	0.1240	10	0.87932	D	0	.	14.7768	0.69736	0.0:1.0:0.0:0.0	.	340;340	Q9H254;Q71S06	SPTN4_HUMAN;.	F	340	ENSP00000263373:S340F;ENSP00000340345:S340F;ENSP00000340741:S340F	ENSP00000340345:S340F	S	+	2	0	SPTBN4	45699996	1.000000	0.71417	0.860000	0.33809	0.446000	0.32137	7.609000	0.82925	2.219000	0.72066	0.467000	0.42956	TCC		0.602	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2				17	59	0	0	0	0.00499	0	17	59		
PSG2	5670	broad.mit.edu	37	19	43575862	43575862	+	Silent	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:43575862G>C	ENST00000406487.1	-	4	1052	c.954C>G	c.(952-954)gtC>gtG	p.V318V		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	318					cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.V318V(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				CAGAGACTTTGACTGTCAACG	0.458																																						uc002ovr.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(952-954)GTC>GTG		pregnancy specific beta-1-glycoprotein 2							177.0	182.0	180.0					19																	43575862		2203	4299	6502	SO:0001819	synonymous_variant	5670				cell migration|female pregnancy	extracellular region		g.chr19:43575862G>C		CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9519	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta-1-glycoprotein 7"", ""carcinoembryonic antigen SG8"""	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.954C>G	19.37:g.43575862G>C						PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Silent_p.V318V|PSG2_uc010eiq.1_Silent_p.V318V|PSG2_uc002ovs.3_Silent_p.V318V|PSG2_uc002ovt.3_Silent_p.V318V	p.V318V	NM_031246	NP_112536	P11465	PSG2_HUMAN			4	1047	-		Prostate(69;0.00682)	318					Q8TCD9|Q9UEA4|Q9UQ78	Silent	SNP	ENST00000406487.1	37	c.954C>G	CCDS12616.1																																																																																				0.458	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1		NM_031246		93	152	0	0	0	0.01441	0	93	152		
ZNF230	7773	broad.mit.edu	37	19	44514437	44514437	+	Silent	SNP	G	G	A	rs150544790	byFrequency	TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:44514437G>A	ENST00000429154.2	+	5	474	c.246G>A	c.(244-246)gcG>gcA	p.A82A		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	82	KRNB.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A82A(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				AGACTATTGCGGAAGCAGGAC	0.423																																					GBM(175;914 2069 22996 47111 52600)	uc002oyb.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(244-246)GCG>GCA		zinc finger protein 230		G		0,4406		0,0,2203	61.0	57.0	59.0		246	-5.1	0.0	19	dbSNP_134	59	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	ZNF230	NM_006300.3		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		82/475	44514437	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	7773				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44514437G>A	U95044	CCDS33044.1	19q13.31	2013-01-08				ENSG00000159882		"""Zinc fingers, C2H2-type"", ""-"""	13024	protein-coding gene	gene with protein product							Standard	NM_006300		Approved	FDZF2	uc002oyb.1	Q9UIE0		ENST00000429154.2:c.246G>A	19.37:g.44514437G>A							p.A82A	NM_006300	NP_006291	Q9UIE0	ZN230_HUMAN			5	497	+		Prostate(69;0.0352)	82			KRNB.		O15322|Q504X7|Q86W84|Q9P1U6	Silent	SNP	ENST00000429154.2	37	c.246G>A	CCDS33044.1																																																																																				0.423	ZNF230-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460456.1				3	36	0	0	0	0.004672	0	3	36		
ZNF180	7733	broad.mit.edu	37	19	44981167	44981167	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:44981167G>A	ENST00000221327.4	-	5	1812	c.1531C>T	c.(1531-1533)Cat>Tat	p.H511Y	ZNF180_ENST00000391956.4_Missense_Mutation_p.H486Y|ZNF180_ENST00000592529.1_Missense_Mutation_p.H484Y|AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000585514.1_5'Flank	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	511					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H511Y(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				GTTCTCTGATGAGCAACAAGT	0.393																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)	uc002ozf.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(1531-1533)CAT>TAT		zinc finger protein 180							62.0	61.0	62.0					19																	44981167		2203	4300	6503	SO:0001583	missense	7733				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44981167G>A	AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"""Zinc fingers, C2H2-type"", ""-"""	12970	protein-coding gene	gene with protein product		606740	"""zinc finger protein 180 (HHZ168)"""				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.1531C>T	19.37:g.44981167G>A	ENSP00000221327:p.His511Tyr					ZNF180_uc002ozh.3_Missense_Mutation_p.H168Y|ZNF180_uc002ozi.3_Missense_Mutation_p.H484Y|ZNF180_uc002ozg.3_Missense_Mutation_p.H510Y|ZNF180_uc010ejm.2_Missense_Mutation_p.H486Y	p.H511Y	NM_013256	NP_037388	Q9UJW8	ZN180_HUMAN			5	1813	-		Prostate(69;0.0435)	511			C2H2-type 6.		B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Missense_Mutation	SNP	ENST00000221327.4	37	c.1531C>T	CCDS12639.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.050475	0.75960	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	D;D	0.86769	-2.17;-2.17	5.32	5.32	0.75619	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43416	D	0.000580	D	0.95981	0.8691	H	0.96720	3.87	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.97403	0.9997	10	0.87932	D	0	-13.1896	17.7819	0.88526	0.0:0.0:1.0:0.0	.	486;510;511	G5E9B8;Q58F03;Q9UJW8	.;.;ZN180_HUMAN	Y	511;486	ENSP00000221327:H511Y;ENSP00000375818:H486Y	ENSP00000221327:H511Y	H	-	1	0	ZNF180	49673007	1.000000	0.71417	0.989000	0.46669	0.991000	0.79684	8.895000	0.92512	2.485000	0.83878	0.467000	0.42956	CAT		0.393	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1		NM_013256		18	86	0	0	0	0.00499	0	18	86		
PNMAL1	55228	broad.mit.edu	37	19	46973831	46973831	+	Silent	SNP	C	C	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:46973831C>A	ENST00000313683.10	-	2	767	c.462G>T	c.(460-462)ctG>ctT	p.L154L	PNMAL1_ENST00000438932.2_Silent_p.L154L|PNMAL1_ENST00000602246.1_Intron	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	154								p.L154L(4)		cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		CCACTGCTCCCAGAAGCACCc	0.637																																						uc002peq.3		NaN																	4	Substitution - coding silent(4)		urinary_tract(2)|lung(2)		0						c.(460-462)CTG>CTT		PNMA-like 1 isoform a							48.0	52.0	51.0					19																	46973831		2203	4299	6502	SO:0001819	synonymous_variant	55228							g.chr19:46973831C>A	BC026026	CCDS33059.1, CCDS46124.1	19q13.32	2014-02-12	2012-02-09			ENSG00000182013		"""Paraneoplastic Ma antigens"""	25578	protein-coding gene	gene with protein product			"""PNMA-like 1"""			12477932	Standard	NM_018215		Approved	KIAA1183L, FLJ10781	uc002peq.4	Q86V59		ENST00000313683.10:c.462G>T	19.37:g.46973831C>A						PNMAL1_uc002per.3_Silent_p.L154L	p.L154L	NM_018215	NP_060685	Q86V59	PNML1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)	2	768	-		Ovarian(192;0.00965)|all_neural(266;0.0459)	154					A8K2F3|Q5U638|Q8N3H4|Q9NVE8	Silent	SNP	ENST00000313683.10	37	c.462G>T	CCDS33059.1																																																																																				0.637	PNMAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403929.1		NM_018215		30	70	1	0	1.74807e-11	0.010818	1.89497e-11	30	70		
SYT3	84258	broad.mit.edu	37	19	51129249	51129249	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:51129249T>C	ENST00000338916.4	-	5	1940	c.1307A>G	c.(1306-1308)aAc>aGc	p.N436S	SYT3_ENST00000544769.1_Missense_Mutation_p.N436S|SYT3_ENST00000600079.1_Missense_Mutation_p.N436S|SYT3_ENST00000593901.1_Missense_Mutation_p.N436S	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	436	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.N436S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GAGTGAGAAGTTGAGCTCCCC	0.557																																						uc002pst.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|breast(1)	3						c.(1306-1308)AAC>AGC		synaptotagmin III							109.0	93.0	99.0					19																	51129249		2203	4300	6503	SO:0001583	missense	84258					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:51129249T>C	AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"""Synaptotagmins"""	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.1307A>G	19.37:g.51129249T>C	ENSP00000340914:p.Asn436Ser					SYT3_uc002psv.2_Missense_Mutation_p.N436S|SYT3_uc010ycd.1_Missense_Mutation_p.N436S	p.N436S	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)	5	1941	-		all_neural(266;0.131)	436			C2 2.|Cytoplasmic (Potential).		Q8N5Z1|Q8N640	Missense_Mutation	SNP	ENST00000338916.4	37	c.1307A>G	CCDS12798.1	.	.	.	.	.	.	.	.	.	.	T	10.46	1.355364	0.24512	.	.	ENSG00000213023	ENST00000338916;ENST00000544769	T;T	0.71341	-0.56;-0.56	4.13	4.13	0.48395	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	U	0.000004	T	0.65626	0.2709	N	0.14661	0.345	0.48901	D	0.999724	D	0.63880	0.993	D	0.66716	0.946	T	0.61382	-0.7074	10	0.20519	T	0.43	.	8.1309	0.31027	0.1798:0.0:0.0:0.8201	.	436	Q9BQG1	SYT3_HUMAN	S	436	ENSP00000340914:N436S;ENSP00000438883:N436S	ENSP00000340914:N436S	N	-	2	0	SYT3	55821061	0.141000	0.22595	1.000000	0.80357	0.992000	0.81027	0.391000	0.20784	1.662000	0.50781	0.454000	0.30748	AAC		0.557	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464910.1		NM_032298		6	10	0	0	0	0.001984	0	6	10		
SIGLEC10	89790	broad.mit.edu	37	19	51914402	51914402	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:51914402C>T	ENST00000339313.5	-	11	2161	c.2045G>A	c.(2044-2046)cGg>cAg	p.R682Q	SIGLEC10_ENST00000436984.2_Missense_Mutation_p.R539Q|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.R439Q|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.R682Q|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.R504Q|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.R624Q|SIGLEC10_ENST00000353836.5_Missense_Mutation_p.R587Q|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.R529Q|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.R497Q			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	682					cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.R682Q(1)|p.R624Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		CTTGGGCATCCGGGCCTCAGG	0.572																																						uc002pwo.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	skin(1)	1						c.(2044-2046)CGG>CAG		sialic acid binding Ig-like lectin 10 precursor							113.0	110.0	111.0					19																	51914402		2203	4300	6503	SO:0001583	missense	89790				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr19:51914402C>T	AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15620	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 10 Ig-like lectin 7"", ""siglec-like gene 2"""	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.2045G>A	19.37:g.51914402C>T	ENSP00000345243:p.Arg682Gln					SIGLEC10_uc002pwp.2_Missense_Mutation_p.R624Q|SIGLEC10_uc002pwq.2_Missense_Mutation_p.R529Q|SIGLEC10_uc002pwr.2_Missense_Mutation_p.R587Q|SIGLEC10_uc010ycy.1_Missense_Mutation_p.R497Q|SIGLEC10_uc010ycz.1_Missense_Mutation_p.R539Q|SIGLEC10_uc010eow.2_Missense_Mutation_p.R399Q	p.R682Q	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)	11	2661	-		all_neural(266;0.0199)	682			Cytoplasmic (Potential).		A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Missense_Mutation	SNP	ENST00000339313.5	37	c.2045G>A	CCDS12832.1	.	.	.	.	.	.	.	.	.	.	.	10.05	1.243318	0.22796	.	.	ENSG00000142512	ENST00000353836;ENST00000432469;ENST00000442846;ENST00000356298;ENST00000441969;ENST00000525998;ENST00000439889;ENST00000436984;ENST00000339313	T;T;T;T;T;T;T;T;T	0.43688	1.33;2.54;2.01;1.09;2.37;2.19;0.94;2.32;1.09	4.45	-3.59	0.04583	.	2.384440	0.01907	N	0.039590	T	0.16342	0.0393	N	0.04090	-0.28	0.09310	N	1	B;B;B;B;B;B;B	0.22346	0.002;0.068;0.004;0.007;0.007;0.006;0.038	B;B;B;B;B;B;B	0.09377	0.001;0.003;0.001;0.002;0.002;0.002;0.004	T	0.29058	-1.0024	10	0.02654	T	1	.	6.0546	0.19804	0.0:0.2578:0.4732:0.269	.	539;497;587;587;529;624;682	C9JM10;E9PL79;B7ZL04;Q96LC7-2;Q96LC7-6;Q96LC7-3;Q96LC7	.;.;.;.;.;.;SIG10_HUMAN	Q	587;504;439;682;529;497;624;539;682	ENSP00000342389:R587Q;ENSP00000396742:R504Q;ENSP00000395475:R439Q;ENSP00000348646:R682Q;ENSP00000408387:R529Q;ENSP00000431444:R497Q;ENSP00000389132:R624Q;ENSP00000414324:R539Q;ENSP00000345243:R682Q	ENSP00000345243:R682Q	R	-	2	0	SIGLEC10	56606214	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.743000	0.04845	-0.548000	0.06199	-0.312000	0.09012	CGG		0.572	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2		NM_033130		25	77	0	0	0	0.016522	0	25	77		
NLRP2	55655	broad.mit.edu	37	19	55494635	55494635	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:55494635G>A	ENST00000543010.1	+	6	1712	c.1569G>A	c.(1567-1569)gaG>gaA	p.E523E	NLRP2_ENST00000448584.2_Silent_p.E523E|NLRP2_ENST00000538819.1_Silent_p.E499E|NLRP2_ENST00000427260.2_Silent_p.E500E|NLRP2_ENST00000263437.6_Silent_p.E520E|NLRP2_ENST00000391721.4_Silent_p.E499E|NLRP2_ENST00000339757.7_Silent_p.E501E|NLRP2_ENST00000537859.1_Silent_p.E501E	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	523	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Poly-Glu.				positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)	p.E523E(1)		large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AGGAGGAAGAGGATAGGGACG	0.557																																						uc002qij.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(1567-1569)GAG>GAA		NLR family, pyrin domain containing 2							78.0	73.0	75.0					19																	55494635		2203	4300	6503	SO:0001819	synonymous_variant	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55494635G>A	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1569G>A	19.37:g.55494635G>A						NLRP2_uc010yfp.1_Silent_p.E500E|NLRP2_uc010esn.2_Silent_p.E499E|NLRP2_uc010eso.2_Silent_p.E520E|NLRP2_uc010esp.2_Silent_p.E501E	p.E523E	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	6	1655	+			523			NACHT.|Poly-Glu.		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Silent	SNP	ENST00000543010.1	37	c.1569G>A	CCDS12913.1																																																																																				0.557	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1		NM_017852		19	58	0	0	0	0.007413	0	19	58		
NLRP9	338321	broad.mit.edu	37	19	56223188	56223188	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:56223188C>T	ENST00000332836.2	-	8	2848	c.2821G>A	c.(2821-2823)Gac>Aac	p.D941N	CTD-2611O12.8_ENST00000596293.1_RNA|CTD-2611O12.7_ENST00000597680.1_RNA	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	941						cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.D941N(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		AGGGCACAGTCCGGGTGGCTC	0.552																																						uc002qly.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(4)|ovary(2)|breast(1)	7						c.(2821-2823)GAC>AAC		NLR family, pyrin domain containing 9							103.0	76.0	85.0					19																	56223188		2200	4298	6498	SO:0001583	missense	338321					cytoplasm	ATP binding	g.chr19:56223188C>T	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.2821G>A	19.37:g.56223188C>T	ENSP00000331857:p.Asp941Asn						p.D941N	NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	8	2849	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	941					B2RN12|Q86W27	Missense_Mutation	SNP	ENST00000332836.2	37	c.2821G>A	CCDS12934.1	.	.	.	.	.	.	.	.	.	.	C	9.099	1.003704	0.19121	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	T	0.51574	0.7	3.28	-1.53	0.08611	.	.	.	.	.	T	0.20129	0.0484	N	0.11427	0.14	0.09310	N	1	B	0.34015	0.435	B	0.28991	0.097	T	0.15838	-1.0423	9	0.21540	T	0.41	.	4.0779	0.09912	0.0:0.377:0.3855:0.2375	.	941	Q7RTR0	NALP9_HUMAN	N	941	ENSP00000331857:D941N	ENSP00000331857:D941N	D	-	1	0	NLRP9	60915000	0.000000	0.05858	0.003000	0.11579	0.085000	0.17905	-0.098000	0.11024	-0.172000	0.10779	-0.165000	0.13383	GAC		0.552	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1		NM_176820		5	25	0	0	0	0.014758	0	5	25		
NLRP4	147945	broad.mit.edu	37	19	56369819	56369819	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:56369819G>A	ENST00000301295.6	+	3	1482	c.1060G>A	c.(1060-1062)Gag>Aag	p.E354K	NLRP4_ENST00000346986.5_Missense_Mutation_p.E354K|NLRP4_ENST00000587891.1_Missense_Mutation_p.E279K	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	354	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.E354K(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TCTGAAGCAAGAGATGCAGAA	0.507																																						uc002qmd.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15						c.(1060-1062)GAG>AAG		NLR family, pyrin domain containing 4							53.0	48.0	50.0					19																	56369819		2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56369819G>A	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1060G>A	19.37:g.56369819G>A	ENSP00000301295:p.Glu354Lys					NLRP4_uc002qmf.2_Missense_Mutation_p.E279K|NLRP4_uc010etf.2_Missense_Mutation_p.E185K	p.E354K	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	3	1482	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	354			NACHT.		Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.1060G>A	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.035898	0.54896	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	D;D	0.83755	-1.76;-1.76	4.1	0.37	0.16160	.	.	.	.	.	D	0.86928	0.6051	L	0.48642	1.525	0.09310	N	1	P;D;D	0.89917	0.937;1.0;1.0	P;D;D	0.77004	0.66;0.989;0.975	T	0.78396	-0.2220	9	0.56958	D	0.05	.	13.1531	0.59500	0.0:0.4543:0.5457:0.0	.	354;279;354	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	K	354	ENSP00000301295:E354K;ENSP00000344787:E354K	ENSP00000301295:E354K	E	+	1	0	NLRP4	61061631	0.000000	0.05858	0.017000	0.16124	0.039000	0.13416	-0.840000	0.04363	0.463000	0.27118	0.655000	0.94253	GAG		0.507	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2		NM_134444		25	43	0	0	0	0.01892	0	25	43		
ZNF471	57573	broad.mit.edu	37	19	57027736	57027736	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:57027736G>A	ENST00000308031.5	+	3	259	c.126G>A	c.(124-126)atG>atA	p.M42I	ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_Missense_Mutation_p.M42I	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	42	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.M42I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		ACAGGAGTATGATGTTGGAGA	0.393																																					Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)	uc002qnh.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(1)|ovary(1)	2						c.(124-126)ATG>ATA		zinc finger protein 471							171.0	156.0	161.0					19																	57027736		2203	4300	6503	SO:0001583	missense	57573				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57027736G>A	AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"""Zinc fingers, C2H2-type"", ""-"""	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.126G>A	19.37:g.57027736G>A	ENSP00000309161:p.Met42Ile						p.M42I	NM_020813	NP_065864	Q9BX82	ZN471_HUMAN		GBM - Glioblastoma multiforme(193;0.0307)	3	259	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	42			KRAB.		B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	ENST00000308031.5	37	c.126G>A	CCDS12945.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.814436	0.50527	.	.	ENSG00000196263	ENST00000308031	T	0.01538	4.79	3.92	3.92	0.45320	Krueppel-associated box (4);	.	.	.	.	T	0.01905	0.0060	N	0.22421	0.69	0.28366	N	0.920229	B	0.27013	0.166	B	0.18561	0.022	T	0.37454	-0.9705	9	0.66056	D	0.02	.	13.8276	0.63359	0.0:0.0:1.0:0.0	.	42	Q9BX82	ZN471_HUMAN	I	42	ENSP00000309161:M42I	ENSP00000309161:M42I	M	+	3	0	ZNF471	61719548	0.992000	0.36948	0.998000	0.56505	0.959000	0.62525	0.503000	0.22610	2.183000	0.69458	0.650000	0.86243	ATG		0.393	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1		NM_020813		21	96	0	0	0	0.012319	0	21	96		
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T	rs201682072		TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393																																						uc002qqo.2		NaN																	10	Substitution - Missense(10)		urinary_tract(3)|kidney(3)|prostate(2)|NS(1)|skin(1)		0						c.(1210-1212)GAC>GAA		zinc finger protein 814							117.0	93.0	100.0					19																	58385546		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385546G>T		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1212C>A	19.37:g.58385546G>T	ENSP00000410545:p.Asp404Glu					ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.1_Intron	p.D404E	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN			3	1484	-			404					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1212C>A	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.545823	0.27652	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.14640	2.49	2.33	-4.66	0.03329	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.03177	-0.4	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.33574	-0.9863	9	0.54805	T	0.06	.	1.2175	0.01917	0.3897:0.3041:0.1331:0.1731	.	404	B7Z6K7	ZN814_HUMAN	E	404;266	ENSP00000410545:D404E	ENSP00000365378:D266E	D	-	3	2	ZNF814	63077358	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.489000	0.02306	-2.531000	0.00491	-1.292000	0.01352	GAC		0.393	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1		XM_001725708		6	8	1	0	3.59834e-05	0.021553	3.73339e-05	6	8		
PXDN	7837	broad.mit.edu	37	2	1653407	1653407	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:1653407G>T	ENST00000252804.4	-	17	2195	c.2145C>A	c.(2143-2145)aaC>aaA	p.N715K		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	715					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.N715K(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TTGCGATGAGGTTCAGGTACT	0.592																																						uc002qxa.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(6)|ovary(2)	8						c.(2143-2145)AAC>AAA		peroxidasin precursor							66.0	69.0	68.0					2																	1653407		2101	4223	6324	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1653407G>T	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.2145C>A	2.37:g.1653407G>T	ENSP00000252804:p.Asn715Lys						p.N715K	NM_012293	NP_036425	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	17	2209	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	715					A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.2145C>A	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	G	3.140	-0.176467	0.06380	.	.	ENSG00000130508	ENST00000252804	T	0.59638	0.25	5.63	3.77	0.43336	.	0.331738	0.37261	N	0.002172	T	0.34164	0.0888	N	0.16743	0.435	0.27874	N	0.939945	B	0.10296	0.003	B	0.14578	0.011	T	0.21280	-1.0250	10	0.09338	T	0.73	-32.081	7.355	0.26714	0.3731:0.0:0.6269:0.0	.	715	Q92626	PXDN_HUMAN	K	715	ENSP00000252804:N715K	ENSP00000252804:N715K	N	-	3	2	PXDN	1632414	0.997000	0.39634	1.000000	0.80357	0.901000	0.52897	0.498000	0.22530	0.672000	0.31204	0.558000	0.71614	AAC		0.592	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1		XM_056455		37	43	1	0	7.83172e-31	0.019004	8.68445e-31	37	43		
ASXL2	55252	broad.mit.edu	37	2	25978935	25978935	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:25978935C>G	ENST00000435504.4	-	10	1281	c.988G>C	c.(988-990)Gaa>Caa	p.E330Q	ASXL2_ENST00000336112.4_Missense_Mutation_p.E302Q|ASXL2_ENST00000404843.1_Missense_Mutation_p.E70Q|ASXL2_ENST00000272341.4_Missense_Mutation_p.E70Q			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	330					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)	p.E70Q(1)|p.E330Q(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGAAGAATTCATTGTTAAGG	0.448																																						uc002rgs.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	pancreas(1)	1						c.(988-990)GAA>CAA		additional sex combs like 2							130.0	127.0	128.0					2																	25978935		1886	4112	5998	SO:0001583	missense	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:25978935C>G			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.988G>C	2.37:g.25978935C>G	ENSP00000391447:p.Glu330Gln					ASXL2_uc002rgt.1_Missense_Mutation_p.E70Q	p.E330Q	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN			9	1209	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		330					Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	ENST00000435504.4	37	c.988G>C		.	.	.	.	.	.	.	.	.	.	C	25.3	4.625959	0.87560	.	.	ENSG00000143970	ENST00000435504;ENST00000336112;ENST00000404843;ENST00000272341	T;T;T;T	0.55930	0.49;0.49;0.98;0.98	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.75228	0.3821	M	0.78456	2.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.76255	-0.3026	10	0.87932	D	0	-9.8255	19.2273	0.93822	0.0:1.0:0.0:0.0	.	70;330	Q76L83-2;Q76L83	.;ASXL2_HUMAN	Q	330;302;70;70	ENSP00000391447:E330Q;ENSP00000337250:E302Q;ENSP00000383920:E70Q;ENSP00000272341:E70Q	ENSP00000272341:E70Q	E	-	1	0	ASXL2	25832439	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.672000	0.83956	2.894000	0.99253	0.655000	0.94253	GAA		0.448	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3		NM_018263		41	93	0	0	0	0.01441	0	41	93		
ASXL2	55252	broad.mit.edu	37	2	25994376	25994376	+	Missense_Mutation	SNP	G	G	A	rs540066802	byFrequency	TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:25994376G>A	ENST00000435504.4	-	6	730	c.437C>T	c.(436-438)tCa>tTa	p.S146L	ASXL2_ENST00000336112.4_Missense_Mutation_p.S118L|ASXL2_ENST00000404843.1_5'UTR|ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000272341.4_5'UTR			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	146	Ser-rich.				adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)	p.S146L(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATGGTGGGTGATGGGCAGCC	0.443													G|||	2	0.000399361	0.0	0.0	5008	,	,		18998	0.001		0.0	False		,,,				2504	0.001					uc002rgs.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(1)	1						c.(436-438)TCA>TTA		additional sex combs like 2							176.0	172.0	173.0					2																	25994376		2027	4184	6211	SO:0001583	missense	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:25994376G>A			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.437C>T	2.37:g.25994376G>A	ENSP00000391447:p.Ser146Leu					ASXL2_uc002rgt.1_5'UTR	p.S146L	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN			5	658	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		146			Ser-rich.		Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	ENST00000435504.4	37	c.437C>T		.	.	.	.	.	.	.	.	.	.	G	20.9	4.073143	0.76415	.	.	ENSG00000143970	ENST00000435504;ENST00000336112	T;T	0.22134	1.97;1.97	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.43344	0.1243	L	0.50333	1.59	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.20306	-1.0279	10	0.87932	D	0	-5.5945	18.309	0.90192	0.0:0.0:1.0:0.0	.	146	Q76L83	ASXL2_HUMAN	L	146;118	ENSP00000391447:S146L;ENSP00000337250:S118L	ENSP00000337250:S118L	S	-	2	0	ASXL2	25847880	1.000000	0.71417	0.968000	0.41197	0.919000	0.55068	7.533000	0.81994	2.672000	0.90937	0.591000	0.81541	TCA		0.443	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3		NM_018263		8	28	0	0	0	0.010729	0	8	28		
ASXL2	55252	broad.mit.edu	37	2	25994388	25994388	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:25994388G>T	ENST00000435504.4	-	6	718	c.425C>A	c.(424-426)tCa>tAa	p.S142*	ASXL2_ENST00000336112.4_Nonsense_Mutation_p.S114*|ASXL2_ENST00000404843.1_5'UTR|ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000272341.4_5'UTR			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	142	Ser-rich.				adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)	p.S142*(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGGCAGCCTGACTGCGGGGA	0.453																																						uc002rgs.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	pancreas(1)	1						c.(424-426)TCA>TAA		additional sex combs like 2							166.0	162.0	164.0					2																	25994388		2031	4179	6210	SO:0001587	stop_gained	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:25994388G>T			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.425C>A	2.37:g.25994388G>T	ENSP00000391447:p.Ser142*					ASXL2_uc002rgt.1_5'UTR	p.S142*	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN			5	646	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		142			Ser-rich.		Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Nonsense_Mutation	SNP	ENST00000435504.4	37	c.425C>A		.	.	.	.	.	.	.	.	.	.	G	38	7.063126	0.98036	.	.	ENSG00000143970	ENST00000435504;ENST00000336112	.	.	.	5.66	5.66	0.87406	.	0.151709	0.46145	D	0.000317	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-8.2846	18.309	0.90192	0.0:0.0:1.0:0.0	.	.	.	.	X	142;114	.	ENSP00000337250:S114X	S	-	2	0	ASXL2	25847892	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	7.533000	0.81994	2.672000	0.90937	0.591000	0.81541	TCA		0.453	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3		NM_018263		8	30	1	0	6.40141e-05	0.010729	6.60626e-05	8	30		
OTOF	9381	broad.mit.edu	37	2	26684967	26684967	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:26684967C>T	ENST00000272371.2	-	42	5401	c.5275G>A	c.(5275-5277)Gac>Aac	p.D1759N	OTOF_ENST00000339598.3_Missense_Mutation_p.D992N|OTOF_ENST00000338581.6_Missense_Mutation_p.D992N|OTOF_ENST00000403946.3_Missense_Mutation_p.D1759N|OTOF_ENST00000402415.3_Missense_Mutation_p.D1069N	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1759					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)	p.D1069N(1)|p.D1759Y(1)|p.D992N(1)|p.D1759N(1)|p.D1069Y(1)|p.D992Y(1)		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)					ACGAAGATGTCACTGGACTTC	0.617																																					GBM(102;732 1451 20652 24062 31372)	uc002rhk.2		NaN																	6	Substitution - Missense(6)		urinary_tract(3)|kidney(3)	ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7						c.(5275-5277)GAC>AAC		otoferlin isoform a							179.0	162.0	168.0					2																	26684967		2203	4300	6503	SO:0001583	missense	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.chr2:26684967C>T	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.5275G>A	2.37:g.26684967C>T	ENSP00000272371:p.Asp1759Asn					OTOF_uc010yla.1_Missense_Mutation_p.D489N|OTOF_uc002rhh.2_Missense_Mutation_p.D992N|OTOF_uc002rhi.2_Missense_Mutation_p.D1069N|OTOF_uc002rhj.2_Missense_Mutation_p.D992N	p.D1759N	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN			42	5402	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1759			Cytoplasmic (Potential).		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.5275G>A	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	C	32	5.140735	0.94560	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	D;D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86;-1.86	4.84	4.84	0.62591	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.95182	0.8438	H	0.96889	3.9	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.999;0.999	D	0.97031	0.9750	10	0.87932	D	0	-36.4813	17.5497	0.87872	0.0:1.0:0.0:0.0	.	1759;992;1069;992	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	N	992;992;1069;1759;1759	ENSP00000345137:D992N;ENSP00000344521:D992N;ENSP00000383906:D1069N;ENSP00000272371:D1759N;ENSP00000385255:D1759N	ENSP00000272371:D1759N	D	-	1	0	OTOF	26538471	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.773000	0.85462	2.245000	0.73994	0.561000	0.74099	GAC		0.617	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3				74	100	0	0	0	0.01441	0	74	100		
DNAJC5G	285126	broad.mit.edu	37	2	27501157	27501157	+	Silent	SNP	G	G	A	rs145408176		TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:27501157G>A	ENST00000296097.3	+	5	895	c.477G>A	c.(475-477)ggG>ggA	p.G159G	DNAJC5G_ENST00000402462.1_Silent_p.G159G|SLC30A3_ENST00000447008.2_5'Flank|DNAJC5G_ENST00000404433.1_Silent_p.G143G|DNAJC5G_ENST00000406962.1_Missense_Mutation_p.G72E	NM_173650.1	NP_775921.1	Q8N7S2	DNJ5G_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 gamma	159						membrane (GO:0016020)		p.G159G(1)		cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGATAGTGGGAGAAAATATC	0.473																																						uc002rjl.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(1)	1						c.(475-477)GGG>GGA		DnaJ (Hsp40) homolog, subfamily C, member 5		G		1,4405	2.1+/-5.4	0,1,2202	148.0	119.0	129.0		477	-3.1	0.0	2	dbSNP_134	129	0,8600		0,0,4300	no	coding-synonymous	DNAJC5G	NM_173650.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		159/190	27501157	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	285126				protein folding	membrane	heat shock protein binding|unfolded protein binding	g.chr2:27501157G>A	AF368277	CCDS1744.1	2p23	2011-09-02			ENSG00000163793	ENSG00000163793		"""Heat shock proteins / DNAJ (HSP40)"""	24844	protein-coding gene	gene with protein product		613946					Standard	NM_173650		Approved	FLJ40417, CSP-gamma	uc002rjl.1	Q8N7S2	OTTHUMG00000097079	ENST00000296097.3:c.477G>A	2.37:g.27501157G>A						SLC30A3_uc010ylh.1_5'Flank|DNAJC5G_uc010yli.1_Missense_Mutation_p.G72E|DNAJC5G_uc002rjm.1_Silent_p.G159G	p.G159G	NM_173650	NP_775921	Q8N7S2	DNJ5G_HUMAN			5	895	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		159					B4DY29|Q53SY5|Q8IYQ4|Q96RJ8	Silent	SNP	ENST00000296097.3	37	c.477G>A	CCDS1744.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.856437	0.51376	2.27E-4	0.0	ENSG00000163793	ENST00000406962	T	0.35236	1.32	4.49	-3.11	0.05299	.	1.573630	0.04234	N	0.335785	T	0.22627	0.0546	.	.	.	0.09310	N	1	B	0.14012	0.009	B	0.09377	0.004	T	0.28996	-1.0026	9	0.87932	D	0	.	0.8845	0.01241	0.3329:0.2911:0.2281:0.1478	.	72	B4DY29	.	E	72	ENSP00000385533:G72E	ENSP00000385533:G72E	G	+	2	0	DNAJC5G	27354661	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.518000	0.06267	-0.388000	0.07797	0.514000	0.50259	GGA		0.473	DNAJC5G-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214200.1		NM_173650		3	24	0	0	0	0.004672	0	3	24		
FEZ2	9637	broad.mit.edu	37	2	36808439	36808439	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:36808439C>T	ENST00000405912.3	-	4	627	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K	FEZ2_ENST00000305852.7_Missense_Mutation_p.E39K|FEZ2_ENST00000379245.4_Missense_Mutation_p.E210K	NM_005102.2	NP_005093.2	Q9UHY8	FEZ2_HUMAN	fasciculation and elongation protein zeta 2 (zygin II)	210					axon guidance (GO:0007411)|nervous system development (GO:0007399)|signal transduction (GO:0007165)			p.E210K(1)		breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	7		all_hematologic(82;0.21)				TTACTCTCTTCATAACTGCCG	0.423																																						uc002rph.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(628-630)GAA>AAA		zygin 2 isoform 1							236.0	228.0	231.0					2																	36808439		1832	4086	5918	SO:0001583	missense	9637				axon guidance|signal transduction		protein binding	g.chr2:36808439C>T	U60061	CCDS46257.1, CCDS46258.1	2p21	2008-05-15			ENSG00000171055	ENSG00000171055			3660	protein-coding gene	gene with protein product		604826				9096408	Standard	NM_005102		Approved		uc002rpg.2	Q9UHY8	OTTHUMG00000152148	ENST00000405912.3:c.628G>A	2.37:g.36808439C>T	ENSP00000385112:p.Glu210Lys					FEZ2_uc002rpe.2_Missense_Mutation_p.E39K|FEZ2_uc002rpf.2_Missense_Mutation_p.E39K|FEZ2_uc002rpg.2_Missense_Mutation_p.E210K|FEZ2_uc002rpi.2_Missense_Mutation_p.E65K|FEZ2_uc002rpj.2_Missense_Mutation_p.E210K	p.E210K	NM_005102	NP_005093	Q9UHY8	FEZ2_HUMAN			4	675	-		all_hematologic(82;0.21)	210					Q5EBN3|Q76LN0|Q99690	Missense_Mutation	SNP	ENST00000405912.3	37	c.628G>A	CCDS46257.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.876065	0.91664	.	.	ENSG00000171055	ENST00000379245;ENST00000305852;ENST00000405912;ENST00000357996	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.59891	0.2227	M	0.77103	2.36	0.80722	D	1	D;D;D;D	0.76494	0.997;0.999;0.996;0.999	D;D;P;D	0.83275	0.921;0.995;0.893;0.996	T	0.57763	-0.7755	10	0.52906	T	0.07	-20.8354	19.5705	0.95413	0.0:1.0:0.0:0.0	.	210;210;210;39	G3V0F5;Q9UHY8;Q9UHY8-2;Q7Z674	.;FEZ2_HUMAN;.;.	K	210;39;210;109	ENSP00000368547:E210K;ENSP00000305843:E39K;ENSP00000385112:E210K;ENSP00000350685:E109K	ENSP00000305843:E39K	E	-	1	0	FEZ2	36661943	1.000000	0.71417	0.990000	0.47175	0.614000	0.37383	7.252000	0.78309	2.941000	0.99782	0.655000	0.94253	GAA		0.423	FEZ2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325432.1				90	158	0	0	0	0.01441	0	90	158		
THADA	63892	broad.mit.edu	37	2	43458382	43458382	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:43458382G>C	ENST00000405006.4	-	38	5918	c.5567C>G	c.(5566-5568)tCa>tGa	p.S1856*	THADA_ENST00000415080.2_Nonsense_Mutation_p.S1537*|THADA_ENST00000330266.7_Intron|THADA_ENST00000405975.2_Nonsense_Mutation_p.S1856*|AC010883.5_ENST00000423354.1_RNA	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1856								p.S1856*(1)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				GCCGGACTTTGAGAGGAGACA	0.512																																						uc002rsw.3		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(5566-5568)TCA>TGA		thyroid adenoma associated							37.0	39.0	38.0					2																	43458382		1930	4133	6063	SO:0001587	stop_gained	63892						binding	g.chr2:43458382G>C	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.5567C>G	2.37:g.43458382G>C	ENSP00000385995:p.Ser1856*					THADA_uc010far.2_Nonsense_Mutation_p.S1051*|THADA_uc002rsx.3_Nonsense_Mutation_p.S1856*|THADA_uc002rsy.3_RNA	p.S1856*	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN			38	5919	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	1856					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Nonsense_Mutation	SNP	ENST00000405006.4	37	c.5567C>G	CCDS46268.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.4|22.4	4.286030|4.286030	0.80803|0.80803	.|.	.|.	ENSG00000115970|ENSG00000115970	ENST00000407351|ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006	.|.	.|.	.|.	4.64|4.64	2.73|2.73	0.32206|0.32206	.|.	.|0.768041	.|0.11907	.|N	.|0.518013	T|.	0.57330|.	0.2046|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.49062|.	-0.8978|.	4|.	.|0.27785	.|T	.|0.31	-26.4041|-26.4041	10.499|10.499	0.44794|0.44794	0.0:0.3201:0.5562:0.1237|0.0:0.3201:0.5562:0.1237	.|.	.|.	.|.	.|.	E|X	1096|1856;1783;1537;1856	.|.	.|ENSP00000349464:S1783X	Q|S	-|-	1|2	0|0	THADA|THADA	43311886|43311886	0.017000|0.017000	0.18338|0.18338	0.301000|0.301000	0.25044|0.25044	0.124000|0.124000	0.20399|0.20399	1.430000|1.430000	0.34914|0.34914	1.142000|1.142000	0.42291|0.42291	0.655000|0.655000	0.94253|0.94253	CAA|TCA		0.512	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3		NM_022065		11	16	0	0	0	0.016723	0	11	16		
WBP1	23559	broad.mit.edu	37	2	74686773	74686773	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:74686773C>T	ENST00000233615.2	+	2	347	c.73C>T	c.(73-75)Cga>Tga	p.R25*	WBP1_ENST00000409737.1_Intron|WBP1_ENST00000393972.3_Nonsense_Mutation_p.R59*|WBP1_ENST00000494741.1_3'UTR	NM_012477.3	NP_036609.1	Q96G27	WBP1_HUMAN	WW domain binding protein 1	25							WW domain binding (GO:0050699)	p.R25*(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						CCCGCAGCTTCGAGAGCTGTG	0.592																																						uc002slj.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)		0						c.(73-75)CGA>TGA		WW domain binding protein 1							75.0	75.0	75.0					2																	74686773		2203	4300	6503	SO:0001587	stop_gained	23559						WW domain binding	g.chr2:74686773C>T	U79457	CCDS1943.1	2p12	2012-04-20			ENSG00000239779	ENSG00000239779			12737	protein-coding gene	gene with protein product		606961				7644498	Standard	NM_012477		Approved	WBP-1	uc002slj.2	Q96G27	OTTHUMG00000129958	ENST00000233615.2:c.73C>T	2.37:g.74686773C>T	ENSP00000233615:p.Arg25*					WBP1_uc002slh.1_RNA|INO80B_uc002sli.1_RNA|WBP1_uc002slk.1_Intron|WBP1_uc002sll.1_RNA	p.R25*	NM_012477	NP_036609	Q96G27	WBP1_HUMAN			2	226	+			25					B2RE02|O95637	Nonsense_Mutation	SNP	ENST00000233615.2	37	c.73C>T	CCDS1943.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.147190	0.77888	.	.	ENSG00000239779	ENST00000233615;ENST00000393972;ENST00000428943	.	.	.	4.71	3.75	0.43078	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.198	9.2067	0.37293	0.2325:0.7675:0.0:0.0	.	.	.	.	X	25;59;84	.	ENSP00000233615:R25X	R	+	1	2	WBP1	74540281	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.321000	0.33678	2.441000	0.82636	0.549000	0.68633	CGA		0.592	WBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252221.2		NM_012477		26	63	0	0	0	0.01892	0	26	63		
LRRTM1	347730	broad.mit.edu	37	2	80529770	80529770	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:80529770G>A	ENST00000295057.3	-	2	1831	c.1175C>T	c.(1174-1176)aCc>aTc	p.T392I	CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000361291.4_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.T392I|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000540488.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	392					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.T392I(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CGCGAGCGTGGTGGCCGAGCT	0.721										HNSCC(69;0.2)																												uc002sok.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(1174-1176)ACC>ATC		leucine rich repeat transmembrane neuronal 1							18.0	19.0	19.0					2																	80529770		2192	4282	6474	SO:0001583	missense	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80529770G>A	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.1175C>T	2.37:g.80529770G>A	ENSP00000295057:p.Thr392Ile	HNSCC(69;0.2)				CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	p.T392I	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN			2	1445	-			392			Lumenal (Potential).		A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	37	c.1175C>T	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	G	9.163	1.019181	0.19355	.	.	ENSG00000162951	ENST00000295057;ENST00000409148	T;T	0.41758	0.99;0.99	5.32	4.44	0.53790	.	0.350902	0.25774	U	0.028396	T	0.22360	0.0539	N	0.08118	0	0.35097	D	0.764847	B	0.34015	0.435	B	0.30782	0.12	T	0.26087	-1.0113	9	.	.	.	.	13.9286	0.63978	0.0736:0.0:0.9264:0.0	.	392	Q86UE6	LRRT1_HUMAN	I	392	ENSP00000295057:T392I;ENSP00000386646:T392I	.	T	-	2	0	LRRTM1	80383281	1.000000	0.71417	0.417000	0.26559	0.888000	0.51559	1.949000	0.40313	1.216000	0.43427	0.655000	0.94253	ACC		0.721	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1		NM_178839		8	31	0	0	0	0.004482	0	8	31		
CTNNA2	1496	broad.mit.edu	37	2	80646667	80646667	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:80646667G>A	ENST00000402739.4	+	8	1236	c.1231G>A	c.(1231-1233)Gaa>Aaa	p.E411K	CTNNA2_ENST00000343114.3_Missense_Mutation_p.E90K|CTNNA2_ENST00000496558.1_Missense_Mutation_p.E411K|CTNNA2_ENST00000541047.1_Missense_Mutation_p.E411K|CTNNA2_ENST00000361291.4_Missense_Mutation_p.E445K|CTNNA2_ENST00000466387.1_Missense_Mutation_p.E411K|CTNNA2_ENST00000540488.1_Missense_Mutation_p.E411K	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	411					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.E411K(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GAGCGGAAATGAAAAGGAAGT	0.458																																						uc010ysh.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(1231-1233)GAA>AAA		catenin, alpha 2 isoform 1							118.0	116.0	117.0					2																	80646667		2039	4222	6261	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80646667G>A		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1231G>A	2.37:g.80646667G>A	ENSP00000384638:p.Glu411Lys					CTNNA2_uc010yse.1_Missense_Mutation_p.E411K|CTNNA2_uc010ysf.1_Missense_Mutation_p.E411K|CTNNA2_uc010ysg.1_Missense_Mutation_p.E411K|CTNNA2_uc010ysi.1_Missense_Mutation_p.E43K	p.E411K	NM_004389	NP_004380	P26232	CTNA2_HUMAN			8	1236	+			411					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.1231G>A		.	.	.	.	.	.	.	.	.	.	G	24.0	4.477268	0.84640	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114;ENST00000409550	T;T;T;T;T;T;T;T	0.62788	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.78052	0.4223	M	0.81802	2.56	0.80722	D	1	B;P;P;P	0.52316	0.042;0.952;0.584;0.933	B;P;B;P	0.55577	0.036;0.779;0.259;0.695	T	0.77051	-0.2731	9	.	.	.	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	43;411;411;411	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	K	411;411;445;411;411;411;90;76	ENSP00000418191:E411K;ENSP00000419295:E411K;ENSP00000355398:E445K;ENSP00000384638:E411K;ENSP00000444675:E411K;ENSP00000441705:E411K;ENSP00000341500:E90K;ENSP00000386587:E76K	.	E	+	1	0	CTNNA2	80500178	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	9.869000	0.99810	2.861000	0.98227	0.655000	0.94253	GAA		0.458	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4		NM_004389		4	83	0	0	0	0.014758	0	4	83		
VWA3B	200403	broad.mit.edu	37	2	98846623	98846623	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:98846623G>C	ENST00000477737.1	+	16	2465	c.2261G>C	c.(2260-2262)tGg>tCg	p.W754S		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	754								p.W754S(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AAGGGACCATGGGGCCTTTCA	0.413																																						uc002syo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|large_intestine(2)|skin(1)	6						c.(2260-2262)TGG>TCG		von Willebrand factor A domain containing 3B							99.0	89.0	92.0					2																	98846623		1836	4099	5935	SO:0001583	missense	200403							g.chr2:98846623G>C	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.2261G>C	2.37:g.98846623G>C	ENSP00000417955:p.Trp754Ser					VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_Missense_Mutation_p.W273S|VWA3B_uc002sym.2_Missense_Mutation_p.W754S|VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Missense_Mutation_p.W411S|VWA3B_uc002syp.1_Missense_Mutation_p.W146S|VWA3B_uc002syq.1_Missense_Mutation_p.W30S|VWA3B_uc002syr.1_Missense_Mutation_p.W71S	p.W754S	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN			16	2525	+			754					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.2261G>C	CCDS42718.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.437|2.437	-0.329408|-0.329408	0.05314|0.05314	.|.	.|.	ENSG00000168658|ENSG00000168658	ENST00000473149|ENST00000477737	.|T	.|0.05319	.|3.46	4.43|4.43	-0.454|-0.454	0.12197|0.12197	.|.	.|1.784970	.|0.02706	.|N	.|0.112243	T|T	0.04452|0.04452	0.0122|0.0122	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.22276	.|0.009;0.067;0.002;0.002	.|B;B;B;B	.|0.17433	.|0.015;0.018;0.002;0.002	T|T	0.38023|0.38023	-0.9680|-0.9680	5|10	.|0.20046	.|T	.|0.44	.|.	2.6259|2.6259	0.04929|0.04929	0.1247:0.1703:0.5326:0.1723|0.1247:0.1703:0.5326:0.1723	.|.	.|146;754;754;754	.|Q502W6-5;Q502W6;Q502W6-8;Q502W6-6	.|.;VWA3B_HUMAN;.;.	I|S	164|754	.|ENSP00000417955:W754S	.|ENSP00000417955:W754S	M|W	+|+	3|2	0|0	VWA3B|VWA3B	98213055|98213055	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.091000|0.091000	0.18340|0.18340	0.279000|0.279000	0.18771|0.18771	0.089000|0.089000	0.17243|0.17243	-0.479000|-0.479000	0.04858|0.04858	ATG|TGG		0.413	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2		NM_144992		23	36	0	0	0	0.01892	0	23	36		
AFF3	3899	broad.mit.edu	37	2	100210124	100210124	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:100210124C>G	ENST00000409236.2	-	13	2111	c.1999G>C	c.(1999-2001)Gag>Cag	p.E667Q	AFF3_ENST00000317233.4_Missense_Mutation_p.E667Q|AFF3_ENST00000356421.2_Missense_Mutation_p.E692Q|AFF3_ENST00000409579.1_Missense_Mutation_p.E692Q			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	667					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)	p.E692Q(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GACTCTGTCTCAATGAACTCC	0.622																																						uc002tag.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						c.(1999-2001)GAG>CAG		AF4/FMR2 family, member 3 isoform 1							77.0	81.0	79.0					2																	100210124		2203	4298	6501	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100210124C>G	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1999G>C	2.37:g.100210124C>G	ENSP00000387207:p.Glu667Gln					AFF3_uc002taf.2_Missense_Mutation_p.E692Q|AFF3_uc010fiq.1_Missense_Mutation_p.E667Q|AFF3_uc010yvr.1_Missense_Mutation_p.E820Q|AFF3_uc002tah.1_Missense_Mutation_p.E692Q	p.E667Q	NM_002285	NP_002276	P51826	AFF3_HUMAN			14	2235	-			667					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.1999G>C	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.726194	0.69074	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	5.17	5.17	0.71159	.	0.242953	0.34178	N	0.004191	T	0.76905	0.4053	L	0.60455	1.87	0.45161	D	0.99817	D;P;P	0.64830	0.994;0.946;0.836	P;P;P	0.60473	0.875;0.809;0.475	T	0.77603	-0.2526	10	0.49607	T	0.09	.	16.8403	0.85967	0.0:1.0:0.0:0.0	.	820;667;692	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	Q	667;692;692;667;667;820;692	ENSP00000317421:E667Q;ENSP00000348793:E692Q;ENSP00000386834:E692Q;ENSP00000387207:E667Q	ENSP00000317421:E667Q	E	-	1	0	AFF3	99576556	1.000000	0.71417	0.992000	0.48379	0.874000	0.50279	5.075000	0.64407	2.426000	0.82243	0.561000	0.74099	GAG		0.622	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3		NM_002285		47	94	0	0	0	0.01441	0	47	94		
NPAS2	4862	broad.mit.edu	37	2	101580599	101580599	+	Silent	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:101580599C>T	ENST00000335681.5	+	8	963	c.678C>T	c.(676-678)ttC>ttT	p.F226F	NPAS2_ENST00000542504.1_Silent_p.F291F|NPAS2_ENST00000486017.1_3'UTR	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	226					cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.F226L(1)|p.F226F(1)		cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGGTTTGCTTCATTGCCACCG	0.493																																						uc002tap.1		NaN																	2	Substitution - Missense(1)|Substitution - coding silent(1)		urinary_tract(1)|large_intestine(1)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(676-678)TTC>TTT		neuronal PAS domain protein 2							131.0	123.0	126.0					2																	101580599		2203	4300	6503	SO:0001819	synonymous_variant	4862				central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:101580599C>T	U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"""Basic helix-loop-helix proteins"""	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.678C>T	2.37:g.101580599C>T						NPAS2_uc010yvt.1_Silent_p.F291F	p.F226F	NM_002518	NP_002509	Q99743	NPAS2_HUMAN			8	964	+			226					Q4ZFV9|Q53SQ3|Q86V96|Q99629	Silent	SNP	ENST00000335681.5	37	c.678C>T	CCDS2048.1																																																																																				0.493	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253168.3				33	49	0	0	0	0.015359	0	33	49		
POLR2D	5433	broad.mit.edu	37	2	128605685	128605685	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:128605685T>C	ENST00000272645.4	-	4	481	c.425A>G	c.(424-426)tAt>tGt	p.Y142C	RP5-935K16.1_ENST00000602909.1_lincRNA|POLR2D_ENST00000409698.1_Missense_Mutation_p.Y104C|POLR2D_ENST00000487079.1_5'UTR|RNU6-395P_ENST00000365662.1_RNA|POLR2D_ENST00000409955.1_Missense_Mutation_p.Y110C	NM_004805.3	NP_004796.1	O15514	RPB4_HUMAN	polymerase (RNA) II (DNA directed) polypeptide D	142					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus in response to heat stress (GO:0031990)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleotide-excision repair (GO:0006289)|positive regulation of translational initiation (GO:0045948)|positive regulation of viral transcription (GO:0050434)|recruitment of 3'-end processing factors to RNA polymerase II holoenzyme complex (GO:0034402)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)|nucleotide binding (GO:0000166)|translation initiation factor binding (GO:0031369)	p.Y142C(1)		large_intestine(1)|lung(4)|urinary_tract(1)	6	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0675)		TGGAGATTAATACTGAAAGCT	0.458																																						uc002tpj.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(424-426)TAT>TGT		DNA directed RNA polymerase II polypeptide D							108.0	101.0	103.0					2																	128605685		2203	4300	6503	SO:0001583	missense	5433				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA-directed RNA polymerase activity|nucleotide binding	g.chr2:128605685T>C	U85510	CCDS2151.1	2q21	2013-01-21			ENSG00000144231	ENSG00000144231		"""RNA polymerase subunits"""	9191	protein-coding gene	gene with protein product	"""RNA polymerase II subunit hsRBP4"""	606017				9528765	Standard	NM_004805		Approved	RBP4	uc002tpj.3	O15514	OTTHUMG00000131531	ENST00000272645.4:c.425A>G	2.37:g.128605685T>C	ENSP00000272645:p.Tyr142Cys					uc010fmc.2_5'Flank|POLR2D_uc002tpk.2_Missense_Mutation_p.Y110C	p.Y142C	NM_004805	NP_004796	O15514	RPB4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0675)	4	480	-	Colorectal(110;0.1)		142					Q52LT4	Missense_Mutation	SNP	ENST00000272645.4	37	c.425A>G	CCDS2151.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.771125	0.90108	.	.	ENSG00000144231	ENST00000272645;ENST00000409955;ENST00000409698	.	.	.	5.63	5.63	0.86233	.	0.063441	0.64402	D	0.000004	T	0.67618	0.2912	L	0.33093	0.98	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.99;0.998	T	0.71269	-0.4643	9	0.87932	D	0	-0.938	15.8498	0.78921	0.0:0.0:0.0:1.0	.	110;142	E9PHV4;O15514	.;RPB4_HUMAN	C	142;110;104	.	ENSP00000272645:Y142C	Y	-	2	0	POLR2D	128322155	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.677000	0.84024	2.144000	0.66660	0.459000	0.35465	TAT		0.458	POLR2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254388.3		NM_004805		14	31	0	0	0	0.024245	0	14	31		
LCT	3938	broad.mit.edu	37	2	136570082	136570082	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:136570082G>A	ENST00000264162.2	-	7	2162	c.2152C>T	c.(2152-2154)Ccc>Tcc	p.P718S	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	718	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)	p.P718S(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	GAGGTCTGGGGCCACACATGG	0.517																																						uc002tuu.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13						c.(2152-2154)CCC>TCC		lactase-phlorizin hydrolase preproprotein							98.0	96.0	97.0					2																	136570082		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136570082G>A	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.2152C>T	2.37:g.136570082G>A	ENSP00000264162:p.Pro718Ser						p.P718S	NM_002299	NP_002290	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	7	2163	-			718			Extracellular (Potential).|4 X approximate repeats.|2.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.2152C>T	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.209248	0.79240	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.53206	0.63	5.66	5.66	0.87406	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.114197	0.64402	D	0.000009	T	0.69441	0.3111	M	0.78223	2.4	0.54753	D	0.999987	D	0.69078	0.997	D	0.65573	0.936	T	0.66948	-0.5794	10	0.35671	T	0.21	-25.0072	19.76	0.96311	0.0:0.0:1.0:0.0	.	718	P09848	LPH_HUMAN	S	718;150	ENSP00000264162:P718S	ENSP00000264162:P718S	P	-	1	0	LCT	136286552	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.644000	0.61397	2.666000	0.90696	0.655000	0.94253	CCC		0.517	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1		NM_002299		22	41	0	0	0	0.014323	0	22	41		
SCN1A	6323	broad.mit.edu	37	2	166848324	166848324	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:166848324G>C	ENST00000303395.4	-	26	5460	c.5461C>G	c.(5461-5463)Cag>Gag	p.Q1821E	SCN1A_ENST00000423058.2_Missense_Mutation_p.Q1821E|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.Q1793E|SCN1A_ENST00000375405.3_Missense_Mutation_p.Q1810E			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1821					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.Q1821E(1)|p.Q1810E(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCCATGAACTGAGTTGCATCG	0.443																																						uc010zcz.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(6)|skin(6)|large_intestine(1)	13						c.(5428-5430)CAG>GAG		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						144.0	142.0	143.0					2																	166848324		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166848324G>C	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.5461C>G	2.37:g.166848324G>C	ENSP00000303540:p.Gln1821Glu						p.Q1810E	NM_006920	NP_008851	P35498	SCN1A_HUMAN			26	5446	-			1821			IV.		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.5428C>G	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.655264	0.88056	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.96459	-4.02;-4.02;-3.98;-3.96	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000012	D	0.98598	0.9531	M	0.91196	3.185	0.80722	D	1	D	0.57899	0.981	D	0.74348	0.983	D	0.99139	1.0855	10	0.87932	D	0	.	20.0435	0.97601	0.0:0.0:1.0:0.0	.	1810	P35498-2	.	E	1821;1821;1810;1793	ENSP00000407030:Q1821E;ENSP00000303540:Q1821E;ENSP00000364554:Q1810E;ENSP00000386312:Q1793E	ENSP00000303540:Q1821E	Q	-	1	0	SCN1A	166556570	1.000000	0.71417	0.989000	0.46669	0.900000	0.52787	9.810000	0.99221	2.731000	0.93534	0.650000	0.86243	CAG		0.443	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1		NM_006920		34	97	0	0	0	0.010818	0	34	97		
TTN	7273	broad.mit.edu	37	2	179400360	179400360	+	Missense_Mutation	SNP	C	C	G	rs201857158	byFrequency	TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:179400360C>G	ENST00000591111.1	-	308	96283	c.96059G>C	c.(96058-96060)aGa>aCa	p.R32020T	TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R33661T|TTN_ENST00000342992.6_Missense_Mutation_p.R31093T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R24721T|TTN_ENST00000460472.2_Missense_Mutation_p.R24596T|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R24788T			Q8WZ42	TITIN_HUMAN	titin	32020	Ig-like 142.				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)	p.R24721T(1)|p.R31091T(1)|p.R31093T(1)|p.R24788T(1)|p.R24596T(1)		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)			AGCATCTTTTCTCTCTACCCC	0.433																																						uc010zfg.1		NaN																	5	Substitution - Missense(5)		urinary_tract(5)	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.(93277-93279)AGA>ACA		titin isoform N2-A							146.0	147.0	147.0					2																	179400360		1932	4129	6061	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179400360C>G	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.96059G>C	2.37:g.179400360C>G	ENSP00000465570:p.Arg32020Thr					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R24788T|TTN_uc010zfi.1_Missense_Mutation_p.R24721T|TTN_uc010zfj.1_Missense_Mutation_p.R24596T	p.R31093T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		307	93502	-			32020					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.93278G>C		.	.	.	.	.	.	.	.	.	.	C	15.82	2.944704	0.53079	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.26	5.26	0.73747	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.62551	0.2437	L	0.52905	1.665	0.52099	D	0.999942	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	T	0.64487	-0.6396	9	0.87932	D	0	.	19.2357	0.93858	0.0:1.0:0.0:0.0	.	24596;24721;24788;32020	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	31093;24596;24788;24721;24593	ENSP00000343764:R31093T;ENSP00000434586:R24596T;ENSP00000340554:R24788T;ENSP00000352154:R24721T	ENSP00000340554:R24788T	R	-	2	0	TTN	179108606	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.819000	0.62664	2.619000	0.88677	0.460000	0.39030	AGA		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		48	95	0	0	0	0.01441	0	48	95		
TTN	7273	broad.mit.edu	37	2	179584463	179584463	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:179584463G>C	ENST00000591111.1	-	80	23029	c.22805C>G	c.(22804-22806)tCa>tGa	p.S7602*	TTN_ENST00000589042.1_Nonsense_Mutation_p.S7919*|TTN_ENST00000342992.6_Nonsense_Mutation_p.S6675*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	13152	Ig-like 58.				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)	p.S6675*(1)		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)			CCACTTGGCTGAGAGTTCTGG	0.433																																						uc010zfg.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	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.(20023-20025)TCA>TGA		titin isoform N2-A							126.0	119.0	121.0					2																	179584463		1896	4111	6007	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179584463G>C	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.22805C>G	2.37:g.179584463G>C	ENSP00000465570:p.Ser7602*					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.S3336*	p.S6675*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		79	20248	-			7602					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	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.20024C>G		.	.	.	.	.	.	.	.	.	.	G	58	32.774285	0.99980	.	.	ENSG00000155657	ENST00000342992	.	.	.	6.08	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	4.0729	0.09891	0.1716:0.0:0.62:0.2084	.	.	.	.	X	6675	.	ENSP00000343764:S6675X	S	-	2	0	TTN	179292708	0.016000	0.18221	1.000000	0.80357	0.828000	0.46876	0.970000	0.29383	2.894000	0.99253	0.655000	0.94253	TCA		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		29	45	0	0	0	0.027356	0	29	45		
RFTN2	130132	broad.mit.edu	37	2	198498722	198498722	+	Splice_Site	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:198498722C>G	ENST00000295049.4	-	4	975		c.e4-1			NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2						dsRNA transport (GO:0033227)|response to exogenous dsRNA (GO:0043330)	plasma membrane (GO:0005886)		p.?(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						CGACATTAATCTGATATTTAA	0.318																																						uc002uuo.3		NaN																	2	Unknown(2)		urinary_tract(1)|lung(1)		0						c.e4-1		raftlin family member 2							41.0	40.0	41.0					2																	198498722		2201	4299	6500	SO:0001630	splice_region_variant	130132					plasma membrane		g.chr2:198498722C>G	AK055136	CCDS2323.1	2q33.1	2008-02-05	2006-09-28	2006-09-28	ENSG00000162944	ENSG00000162944			26402	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 11"""	C2orf11			Standard	NM_144629		Approved	FLJ30574, Raftlin-2	uc002uuo.4	Q52LD8	OTTHUMG00000132746	ENST00000295049.4:c.439-1G>C	2.37:g.198498722C>G							p.I147_splice	NM_144629	NP_653230	Q52LD8	RFTN2_HUMAN			4	841	-								Q14DH4|Q2TA69|Q53QE0|Q53SE1|Q96NM3	Splice_Site	SNP	ENST00000295049.4	37	c.439_splice	CCDS2323.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.026677	0.75390	.	.	ENSG00000162944	ENST00000295049	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6549	0.88175	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RFTN2	198206967	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	4.947000	0.63583	2.666000	0.90696	0.655000	0.94253	.		0.318	RFTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256106.2		NM_144629	Intron	16	39	0	0	0	0.024245	0	16	39		
ZDBF2	57683	broad.mit.edu	37	2	207175392	207175392	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:207175392G>A	ENST00000374423.3	+	5	6526	c.6140G>A	c.(6139-6141)cGg>cAg	p.R2047Q		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2047							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.R2047Q(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AAATATAAACGGAATATCTTT	0.358																																						uc002vbp.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(3)	3						c.(6139-6141)CGG>CAG		zinc finger, DBF-type containing 2							26.0	25.0	25.0					2																	207175392		1825	4080	5905	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207175392G>A	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.6140G>A	2.37:g.207175392G>A	ENSP00000363545:p.Arg2047Gln						p.R2047Q	NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN			5	6390	+			2047					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.6140G>A	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.669213	0.29604	.	.	ENSG00000204186	ENST00000374423	T	0.40756	1.02	5.36	-6.64	0.01801	.	.	.	.	.	T	0.18045	0.0433	N	0.16478	0.41	0.09310	N	1	B	0.22346	0.068	B	0.10450	0.005	T	0.28681	-1.0036	9	0.12430	T	0.62	.	6.1203	0.20150	0.4227:0.0:0.3795:0.1978	.	2047	Q9HCK1	ZDBF2_HUMAN	Q	2047	ENSP00000363545:R2047Q	ENSP00000363545:R2047Q	R	+	2	0	ZDBF2	206883637	0.000000	0.05858	0.000000	0.03702	0.278000	0.26855	-0.113000	0.10774	-1.023000	0.03342	0.563000	0.77884	CGG		0.358	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1		NM_020923		9	19	0	0	0	0.004482	0	9	19		
PLCD4	84812	broad.mit.edu	37	2	219483480	219483480	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:219483480G>T	ENST00000450993.2	+	4	699	c.360G>T	c.(358-360)caG>caT	p.Q120H	U3_ENST00000516996.1_RNA|PLCD4_ENST00000417849.1_Missense_Mutation_p.Q120H|PLCD4_ENST00000432688.1_Missense_Mutation_p.Q120H	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	120	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				acrosome reaction (GO:0007340)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.Q120H(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GAGGGCTCCAGCTGTTGGTGG	0.602																																						uc002vij.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)	3						c.(358-360)CAG>CAT		phospholipase C, delta 4							27.0	28.0	27.0					2																	219483480		2048	4186	6234	SO:0001583	missense	84812				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:219483480G>T	AI366170	CCDS46516.1	2q35	2013-01-10			ENSG00000115556	ENSG00000115556	3.1.4.11	"""EF-hand domain containing"""	9062	protein-coding gene	gene with protein product		605939				10702683, 9056492	Standard	NM_032726		Approved		uc021vwx.1	Q9BRC7	OTTHUMG00000154743	ENST00000450993.2:c.360G>T	2.37:g.219483480G>T	ENSP00000388631:p.Gln120His					PLCD4_uc010zkj.1_Missense_Mutation_p.Q67H|PLCD4_uc002vik.1_5'Flank|PLCD4_uc010zkk.1_5'Flank	p.Q120H	NM_032726	NP_116115	Q9BRC7	PLCD4_HUMAN		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	4	555	+		Renal(207;0.0915)	120			PH.		Q53FS8	Missense_Mutation	SNP	ENST00000450993.2	37	c.360G>T	CCDS46516.1	.	.	.	.	.	.	.	.	.	.	G	8.249	0.808520	0.16467	.	.	ENSG00000115556	ENST00000450993;ENST00000251959;ENST00000457426;ENST00000417849;ENST00000432688	T;T;T	0.65364	-0.15;-0.15;-0.15	4.89	1.16	0.20824	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.222293	0.36740	U	0.002438	T	0.64560	0.2609	M	0.61703	1.905	0.19775	N	0.999957	B;P	0.45428	0.091;0.858	B;P	0.54924	0.035;0.764	T	0.55848	-0.8076	10	0.49607	T	0.09	.	4.2866	0.10858	0.2098:0.1108:0.5676:0.1119	.	67;120	B4DN84;Q9BRC7	.;PLCD4_HUMAN	H	120	ENSP00000388631:Q120H;ENSP00000396942:Q120H;ENSP00000396185:Q120H	ENSP00000251959:Q120H	Q	+	3	2	PLCD4	219191724	0.072000	0.21174	0.667000	0.29798	0.652000	0.38707	0.280000	0.18790	-0.168000	0.10853	-1.872000	0.00552	CAG		0.602	PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336876.1				4	15	1	0	0.000602214	0.014758	0.000618188	4	15		
PTPRN	5798	broad.mit.edu	37	2	220161229	220161229	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:220161229C>A	ENST00000295718.2	-	17	2560	c.2320G>T	c.(2320-2322)Gac>Tac	p.D774Y	PTPRN_ENST00000423636.2_Missense_Mutation_p.D684Y|PTPRN_ENST00000497977.1_5'UTR|AC114803.3_ENST00000417355.1_RNA|MIR153-1_ENST00000384914.1_RNA|PTPRN_ENST00000409251.3_Missense_Mutation_p.D745Y	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	774	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.D774Y(1)		breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		ATCCGAGGGTCATGCTCAATC	0.592																																						uc002vkz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|lung(1)|skin(1)	4						c.(2320-2322)GAC>TAC		protein tyrosine phosphatase, receptor type, N							73.0	65.0	68.0					2																	220161229		2203	4300	6503	SO:0001583	missense	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220161229C>A		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.2320G>T	2.37:g.220161229C>A	ENSP00000295718:p.Asp774Tyr					PTPRN_uc010zlc.1_Missense_Mutation_p.D684Y|PTPRN_uc002vla.2_Missense_Mutation_p.D745Y|uc010zld.1_5'Flank|MIR153-1_hsa-mir-153-1|MI0000463_5'Flank	p.D774Y	NM_002846	NP_002837	Q16849	PTPRN_HUMAN		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)	17	2409	-		Renal(207;0.0474)	774			Cytoplasmic (Potential).|Tyrosine-protein phosphatase.		B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	ENST00000295718.2	37	c.2320G>T	CCDS2440.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.154841	0.78114	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666	D;D;D	0.83755	-1.76;-1.76;-1.76	4.56	4.56	0.56223	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	D	0.87704	0.6244	L	0.43757	1.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.86934	0.2075	10	0.37606	T	0.19	.	17.3328	0.87271	0.0:1.0:0.0:0.0	.	745;774	Q6NSL1;Q16849	.;PTPRN_HUMAN	Y	745;774;745;684	ENSP00000386638:D745Y;ENSP00000295718:D774Y;ENSP00000444244:D684Y	ENSP00000295718:D774Y	D	-	1	0	PTPRN	219869473	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.716000	0.84723	2.245000	0.73994	0.655000	0.94253	GAC		0.592	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2				17	39	1	0	3.41278e-10	0.00499	3.66874e-10	17	39		
DOCK10	55619	broad.mit.edu	37	2	225670030	225670030	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:225670030C>G	ENST00000258390.7	-	36	4011	c.3944G>C	c.(3943-3945)aGa>aCa	p.R1315T	DOCK10_ENST00000409592.3_Missense_Mutation_p.R1309T	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1315					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R1313T(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AGACAAGGGTCTTGGGATCTG	0.418																																						uc010fwz.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(3943-3945)AGA>ACA		dedicator of cytokinesis 10							151.0	142.0	145.0					2																	225670030		1897	4117	6014	SO:0001583	missense	55619						GTP binding	g.chr2:225670030C>G	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.3944G>C	2.37:g.225670030C>G	ENSP00000258390:p.Arg1315Thr					DOCK10_uc002vob.2_Missense_Mutation_p.R1309T|DOCK10_uc002voa.2_5'UTR|DOCK10_uc002voc.2_Missense_Mutation_p.R169T	p.R1315T	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	36	4183	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	1315					B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.3944G>C	CCDS46528.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.9|20.9	4.065135|4.065135	0.76187|0.76187	.|.	.|.	ENSG00000135905|ENSG00000135905	ENST00000422684|ENST00000409592;ENST00000258390	.|T;T	.|0.20332	.|2.08;2.09	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	.|0.049250	.|0.85682	.|D	.|0.000000	T|T	0.50429|0.50429	0.1615|0.1615	M|M	0.77313|0.77313	2.365|2.365	0.47737|0.47737	D|D	0.999506|0.999506	.|D;B;D	.|0.65815	.|0.994;0.421;0.995	.|D;B;P	.|0.75020	.|0.985;0.081;0.713	T|T	0.37865|0.37865	-0.9687|-0.9687	5|10	.|0.44086	.|T	.|0.13	.|.	20.2825|20.2825	0.98528|0.98528	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1315;169;1309	.|Q96BY6;B4DF07;B3FL70	.|DOC10_HUMAN;.;.	H|T	197|1309;1315	.|ENSP00000386694:R1309T;ENSP00000258390:R1315T	.|ENSP00000258390:R1315T	D|R	-|-	1|2	0|0	DOCK10|DOCK10	225378274|225378274	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.230000|7.230000	0.78097|0.78097	2.873000|2.873000	0.98535|0.98535	0.561000|0.561000	0.74099|0.74099	GAC|AGA		0.418	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1				40	52	0	0	0	0.00874	0	40	52		
SPHKAP	80309	broad.mit.edu	37	2	228881535	228881535	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:228881535C>G	ENST00000392056.3	-	7	4081	c.4035G>C	c.(4033-4035)gaG>gaC	p.E1345D	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E1345D	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1345						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.E1345D(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTGCACACTTCTCTGCTTGCG	0.512																																						uc002vpq.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	skin(5)|ovary(4)|lung(1)	10						c.(4033-4035)GAG>GAC		sphingosine kinase type 1-interacting protein							91.0	81.0	85.0					2																	228881535		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228881535C>G		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4035G>C	2.37:g.228881535C>G	ENSP00000375909:p.Glu1345Asp					SPHKAP_uc002vpp.2_Missense_Mutation_p.E1345D|SPHKAP_uc010zlx.1_Missense_Mutation_p.E1345D	p.E1345D	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	4082	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1345					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.4035G>C	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	9.560	1.118285	0.20877	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.12147	2.71;2.71	5.92	-3.73	0.04398	.	0.582699	0.20019	N	0.100942	T	0.08802	0.0218	L	0.50919	1.6	0.09310	N	1	B;B;B	0.15141	0.002;0.002;0.012	B;B;B	0.15484	0.004;0.004;0.013	T	0.22347	-1.0219	10	0.31617	T	0.26	-6.5395	3.1989	0.06643	0.095:0.2369:0.3759:0.2922	.	376;1345;1345	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	D	1345	ENSP00000375909:E1345D;ENSP00000339886:E1345D	ENSP00000339886:E1345D	E	-	3	2	SPHKAP	228589779	0.022000	0.18835	0.000000	0.03702	0.004000	0.04260	-0.526000	0.06207	-0.643000	0.05473	0.655000	0.94253	GAG		0.512	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1		NM_030623		20	50	0	0	0	0.007413	0	20	50		
GPR55	9290	broad.mit.edu	37	2	231775157	231775157	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:231775157T>A	ENST00000392040.1	-	2	713	c.521A>T	c.(520-522)gAt>gTt	p.D174V	GPR55_ENST00000392039.2_Missense_Mutation_p.D174V|AC012507.4_ENST00000454890.1_RNA	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	174					activation of phospholipase C activity (GO:0007202)|bone resorption (GO:0045453)|cannabinoid signaling pathway (GO:0038171)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of osteoclast differentiation (GO:0045671)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho protein signal transduction (GO:0035025)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|G-protein coupled receptor activity (GO:0004930)	p.D174V(1)		endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		CCAGGTATCATCAGACATGTT	0.532																																						uc002vrg.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(520-522)GAT>GTT		G protein-coupled receptor 55							131.0	135.0	133.0					2																	231775157		2203	4300	6503	SO:0001583	missense	9290				activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity	g.chr2:231775157T>A	AF096786	CCDS2480.1	2q37	2012-08-21			ENSG00000135898	ENSG00000135898		"""GPCR / Class A : Orphans"""	4511	protein-coding gene	gene with protein product		604107				9931487	Standard	NM_005683		Approved		uc002vrg.3	Q9Y2T6	OTTHUMG00000133224	ENST00000392040.1:c.521A>T	2.37:g.231775157T>A	ENSP00000375894:p.Asp174Val					GPR55_uc002vrf.2_RNA|GPR55_uc010fxs.1_Missense_Mutation_p.D174V	p.D174V	NM_005683	NP_005674	Q9Y2T6	GPR55_HUMAN		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)	2	714	-		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)	174			Extracellular (Potential).		Q8N580	Missense_Mutation	SNP	ENST00000392040.1	37	c.521A>T	CCDS2480.1	.	.	.	.	.	.	.	.	.	.	T	8.164	0.790158	0.16258	.	.	ENSG00000135898	ENST00000392040;ENST00000392039;ENST00000438398	T;T;T	0.42131	0.98;0.98;0.98	5.51	3.2	0.36748	GPCR, rhodopsin-like superfamily (1);	0.637353	0.16941	N	0.193297	T	0.38746	0.1052	L	0.54323	1.7	0.19300	N	0.999978	P	0.35684	0.515	B	0.40636	0.335	T	0.15607	-1.0431	10	0.27082	T	0.32	-13.8086	8.3004	0.32010	0.0:0.1436:0.0:0.8564	.	174	Q9Y2T6	GPR55_HUMAN	V	174	ENSP00000375894:D174V;ENSP00000375893:D174V;ENSP00000412768:D174V	ENSP00000375893:D174V	D	-	2	0	GPR55	231483401	0.002000	0.14202	0.004000	0.12327	0.038000	0.13279	1.400000	0.34577	2.080000	0.62538	0.533000	0.62120	GAT		0.532	GPR55-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332618.1		NM_005683		49	58	0	0	0	0.01441	0	49	58		
HJURP	55355	broad.mit.edu	37	2	234749700	234749700	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:234749700G>A	ENST00000411486.2	-	8	1791	c.1726C>T	c.(1726-1728)Cgt>Tgt	p.R576C	HJURP_ENST00000432087.1_Missense_Mutation_p.R522C|HJURP_ENST00000434039.1_5'Flank|HJURP_ENST00000441687.1_Missense_Mutation_p.R491C	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	576					cell cycle (GO:0007049)|CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|nucleosome assembly (GO:0006334)|regulation of DNA binding (GO:0051101)|regulation of protein complex assembly (GO:0043254)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|identical protein binding (GO:0042802)	p.R576C(1)|p.R576S(1)		NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		TCATCGTAACGATTCCTTCCG	0.413																																						uc002vvg.2		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|lung(1)	ovary(1)	1						c.(1726-1728)CGT>TGT		Holliday junction recognition protein							99.0	102.0	101.0					2																	234749700		2203	4300	6503	SO:0001583	missense	55355				cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding	g.chr2:234749700G>A		CCDS33406.1, CCDS63166.1, CCDS63167.1	2q37.1	2007-12-06			ENSG00000123485	ENSG00000123485			25444	protein-coding gene	gene with protein product		612667				17823411	Standard	NM_001282962		Approved	DKFZp762E1312, URLC9, hFLEG1, FAKTS	uc002vvg.3	Q8NCD3	OTTHUMG00000059125	ENST00000411486.2:c.1726C>T	2.37:g.234749700G>A	ENSP00000414109:p.Arg576Cys					HJURP_uc010znd.1_Missense_Mutation_p.R515C|HJURP_uc010zne.1_Missense_Mutation_p.R484C	p.R576C	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)	8	1792	-		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)	576					A8IRH5|B4DWR0|B4DZV4|Q9BUT2|Q9NSL8	Missense_Mutation	SNP	ENST00000411486.2	37	c.1726C>T	CCDS33406.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.631118	0.46944	.	.	ENSG00000123485	ENST00000411486;ENST00000432087;ENST00000441687;ENST00000414924	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	4.44	1.56	0.23342	Holliday junction regulator protein family C-terminal repeat (1);	0.718399	0.12660	N	0.449732	T	0.55016	0.1894	L	0.50333	1.59	0.09310	N	1	P;B;P	0.38677	0.589;0.334;0.642	B;B;B	0.35899	0.082;0.046;0.213	T	0.50338	-0.8840	10	0.87932	D	0	-2.4427	5.1616	0.15064	0.0977:0.0:0.5392:0.3631	.	491;522;576	Q8NCD3-3;Q8NCD3-2;Q8NCD3	.;.;HJURP_HUMAN	C	576;522;491;491	ENSP00000414109:R576C;ENSP00000407208:R522C;ENSP00000401944:R491C;ENSP00000393253:R491C	ENSP00000414109:R576C	R	-	1	0	HJURP	234414439	0.002000	0.14202	0.000000	0.03702	0.033000	0.12548	1.025000	0.30090	0.343000	0.23821	0.563000	0.77884	CGT		0.413	HJURP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130996.6		NM_018410		32	59	0	0	0	0.010818	0	32	59		
COL6A3	1293	broad.mit.edu	37	2	238277457	238277457	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:238277457C>T	ENST00000295550.4	-	10	5101	c.4649G>A	c.(4648-4650)gGa>gAa	p.G1550E	COL6A3_ENST00000472056.1_Missense_Mutation_p.G943E|COL6A3_ENST00000347401.3_Missense_Mutation_p.G1349E|COL6A3_ENST00000346358.4_Missense_Mutation_p.G1350E|COL6A3_ENST00000353578.4_Missense_Mutation_p.G1344E|COL6A3_ENST00000409809.1_Missense_Mutation_p.G1344E	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1550	Nonhelical region.|VWFA 8. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.G1550E(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTGGGATTTTCCACCCAGGAC	0.562																																						uc002vwl.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(4648-4650)GGA>GAA		alpha 3 type VI collagen isoform 1 precursor							92.0	89.0	90.0					2																	238277457		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238277457C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.4649G>A	2.37:g.238277457C>T	ENSP00000295550:p.Gly1550Glu					COL6A3_uc002vwo.2_Missense_Mutation_p.G1344E|COL6A3_uc010znj.1_Missense_Mutation_p.G943E	p.G1550E	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	10	4934	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1550			VWFA 8.|Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.4649G>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.364012	0.41902	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.92699	-3.09;-3.09;-3.09;-3.09;-3.09;-3.09	5.36	5.36	0.76844	von Willebrand factor, type A (3);	0.127072	0.36066	N	0.002801	D	0.97380	0.9143	H	0.97516	4.02	0.51767	D	0.999934	D;D;D	0.89917	1.0;1.0;0.995	D;D;D	0.83275	0.996;0.985;0.916	D	0.98039	1.0381	10	0.66056	D	0.02	.	12.8865	0.58047	0.0:0.9155:0.0:0.0845	.	943;1344;1550	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	E	1550;1349;1344;943;1344;1350	ENSP00000295550:G1550E;ENSP00000315609:G1349E;ENSP00000315873:G1344E;ENSP00000418285:G943E;ENSP00000386844:G1344E;ENSP00000295546:G1350E	ENSP00000295550:G1550E	G	-	2	0	COL6A3	237942196	1.000000	0.71417	0.060000	0.19600	0.312000	0.27988	5.769000	0.68865	2.512000	0.84698	0.655000	0.94253	GGA		0.562	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2		NM_004369		30	86	0	0	0	0.007291	0	30	86		
HDAC4	9759	broad.mit.edu	37	2	240036766	240036766	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:240036766C>G	ENST00000345617.3	-	13	2550	c.1759G>C	c.(1759-1761)Gag>Cag	p.E587Q	HDAC4_ENST00000543185.1_Missense_Mutation_p.E171Q|HDAC4_ENST00000541256.1_Missense_Mutation_p.E561Q	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	587					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.E587Q(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		AAGAGCAGCTCCTGCTCACTG	0.677																																						uc002vyk.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(3)|skin(2)|ovary(1)	6						c.(1759-1761)GAG>CAG		histone deacetylase 4							38.0	40.0	39.0					2																	240036766		2203	4299	6502	SO:0001583	missense	9759				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	g.chr2:240036766C>G	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.1759G>C	2.37:g.240036766C>G	ENSP00000264606:p.Glu587Gln					HDAC4_uc010fyz.1_Missense_Mutation_p.E582Q|HDAC4_uc010zoa.1_Missense_Mutation_p.E587Q|HDAC4_uc010fza.2_Missense_Mutation_p.E592Q|HDAC4_uc010fyy.2_Missense_Mutation_p.E544Q|HDAC4_uc010znz.1_Missense_Mutation_p.E470Q	p.E587Q	NM_006037	NP_006028	P56524	HDAC4_HUMAN		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)	13	2551	-		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)	587					Q9UND6	Missense_Mutation	SNP	ENST00000345617.3	37	c.1759G>C	CCDS2529.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.264749	0.59431	.	.	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000543185;ENST00000541256;ENST00000393621	T;T;T	0.63744	0.34;-0.06;1.5	5.09	5.09	0.68999	.	0.416519	0.26859	N	0.022132	T	0.69459	0.3113	L	0.36672	1.1	0.58432	D	0.999997	P;D;D;P;P;P	0.63880	0.935;0.986;0.993;0.948;0.5;0.64	P;P;P;P;B;B	0.61397	0.575;0.828;0.888;0.598;0.077;0.111	T	0.66818	-0.5827	9	.	.	.	.	18.9026	0.92449	0.0:1.0:0.0:0.0	.	587;470;561;561;555;587	B7Z8G5;F5H0Q9;F5H5W4;B7Z8I2;Q53SM2;P56524	.;.;.;.;.;HDAC4_HUMAN	Q	587;475;171;561;470	ENSP00000264606:E587Q;ENSP00000440481:E171Q;ENSP00000443057:E561Q	.	E	-	1	0	HDAC4	239701703	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	5.293000	0.65680	2.538000	0.85594	0.655000	0.94253	GAG		0.677	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2		NM_006037		24	30	0	0	0	0.01892	0	24	30		
PASK	23178	broad.mit.edu	37	2	242066101	242066101	+	Silent	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:242066101G>C	ENST00000405260.1	-	10	2927	c.2229C>G	c.(2227-2229)ctC>ctG	p.L743L	PASK_ENST00000539818.1_Silent_p.L527L|PASK_ENST00000403638.3_Silent_p.L743L|PASK_ENST00000234040.4_Silent_p.L743L|PASK_ENST00000358649.4_Silent_p.L743L|PASK_ENST00000544142.1_Silent_p.L557L	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	743					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.L743L(4)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		AGAGTTCCTTGAGGTTCCAGG	0.547																																						uc002wao.1		NaN																	4	Substitution - coding silent(4)		urinary_tract(2)|lung(2)	ovary(4)|lung(1)|skin(1)	6						c.(2227-2229)CTC>CTG		PAS domain containing serine/threonine kinase							74.0	72.0	73.0					2																	242066101		2203	4300	6503	SO:0001819	synonymous_variant	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242066101G>C	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.2229C>G	2.37:g.242066101G>C						PASK_uc010zol.1_Silent_p.L557L|PASK_uc010zom.1_Silent_p.L708L|PASK_uc010fzl.1_Silent_p.L743L|PASK_uc010zon.1_Silent_p.L524L|PASK_uc002wap.2_Silent_p.L286L|PASK_uc002waq.2_Silent_p.L743L	p.L743L	NM_015148	NP_055963	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	10	2321	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	743					G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Silent	SNP	ENST00000405260.1	37	c.2229C>G	CCDS2545.1																																																																																				0.547	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1		NM_015148		27	41	0	0	0	0.027356	0	27	41		
PASK	23178	broad.mit.edu	37	2	242066280	242066280	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:242066280G>A	ENST00000405260.1	-	10	2748	c.2050C>T	c.(2050-2052)Ccg>Tcg	p.P684S	PASK_ENST00000539818.1_Missense_Mutation_p.P468S|PASK_ENST00000403638.3_Missense_Mutation_p.P684S|PASK_ENST00000234040.4_Missense_Mutation_p.P684S|PASK_ENST00000358649.4_Missense_Mutation_p.P684S|PASK_ENST00000544142.1_Missense_Mutation_p.P498S	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	684			P -> R (in dbSNP:rs56372985). {ECO:0000269|PubMed:17344846}.		negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.P684S(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CACTCTGTCGGAACGAGTTCG	0.622																																						uc002wao.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(4)|lung(1)|skin(1)	6						c.(2050-2052)CCG>TCG		PAS domain containing serine/threonine kinase							97.0	105.0	102.0					2																	242066280		2203	4300	6503	SO:0001583	missense	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242066280G>A	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.2050C>T	2.37:g.242066280G>A	ENSP00000384016:p.Pro684Ser					PASK_uc010zol.1_Missense_Mutation_p.P498S|PASK_uc010zom.1_Missense_Mutation_p.P649S|PASK_uc010fzl.1_Missense_Mutation_p.P684S|PASK_uc010zon.1_Missense_Mutation_p.P465S|PASK_uc002wap.2_Missense_Mutation_p.P227S|PASK_uc002waq.2_Missense_Mutation_p.P684S	p.P684S	NM_015148	NP_055963	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	10	2142	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	684					G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	ENST00000405260.1	37	c.2050C>T	CCDS2545.1	.	.	.	.	.	.	.	.	.	.	G	5.814	0.334508	0.11013	.	.	ENSG00000115687	ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818;ENST00000403638	T;T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.17;-0.21;0.77	3.02	2.14	0.27477	.	0.703054	0.12350	N	0.476615	T	0.45518	0.1346	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B	0.32653	0.024;0.11;0.041;0.379;0.024	B;B;B;B;B	0.31686	0.013;0.029;0.029;0.134;0.013	T	0.24225	-1.0166	10	0.24483	T	0.36	.	6.0085	0.19559	0.1431:0.0:0.8569:0.0	.	649;498;684;684;684	B7Z7R6;F5GYW7;Q96RG2-2;G5E9F1;Q96RG2	.;.;.;.;PASK_HUMAN	S	684;498;684;684;468;684	ENSP00000234040:P684S;ENSP00000441374:P498S;ENSP00000384016:P684S;ENSP00000351475:P684S;ENSP00000443083:P468S;ENSP00000384438:P684S	ENSP00000234040:P684S	P	-	1	0	PASK	241714953	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	0.224000	0.17738	0.855000	0.35359	0.561000	0.74099	CCG		0.622	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1		NM_015148		64	82	0	0	0	0.01441	0	64	82		
HDLBP	3069	broad.mit.edu	37	2	242192385	242192385	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:242192385C>G	ENST00000391975.1	-	11	1586	c.1359G>C	c.(1357-1359)aaG>aaC	p.K453N	HDLBP_ENST00000310931.4_Missense_Mutation_p.K453N|HDLBP_ENST00000391976.2_Missense_Mutation_p.K453N|HDLBP_ENST00000427183.2_Missense_Mutation_p.K420N|HDLBP_ENST00000476807.1_5'Flank	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	453	KH 5. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)	p.K453N(1)		breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		TGGCACCGCTCTTCCCAATGA	0.582																																						uc002waz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(3)|skin(1)	4						c.(1357-1359)AAG>AAC		high density lipoprotein binding protein							188.0	151.0	164.0					2																	242192385		2203	4300	6503	SO:0001583	missense	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242192385C>G		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.1359G>C	2.37:g.242192385C>G	ENSP00000375836:p.Lys453Asn					HDLBP_uc002wba.2_Missense_Mutation_p.K453N|HDLBP_uc002wbb.2_Missense_Mutation_p.K405N	p.K453N	NM_203346	NP_976221	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	11	1587	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	453			KH 5.		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	37	c.1359G>C	CCDS2547.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	16.61|16.61|16.61	3.169955|3.169955|3.169955	0.57584|0.57584|0.57584	.|.|.	.|.|.	ENSG00000115677|ENSG00000115677|ENSG00000115677	ENST00000373292|ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183|ENST00000453141	.|T;T;T;T|.	.|0.44881|.	.|0.91;0.91;0.91;0.91|.	5.49|5.49|5.49	4.62|4.62|4.62	0.57501|0.57501|0.57501	.|K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|T	0.72653|0.72653|0.72653	0.3487|0.3487|0.3487	M|M|M	0.74258|0.74258|0.74258	2.255|2.255|2.255	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;D|.	.|0.89917|.	.|1.0;1.0|.	.|D;D|.	.|0.97110|.	.|0.998;1.0|.	T|T|T	0.73519|0.73519|0.73519	-0.3957|-0.3957|-0.3957	5|10|5	.|0.87932|.	.|D|.	.|0|.	-33.3936|-33.3936|-33.3936	13.0979|13.0979|13.0979	0.59204|0.59204|0.59204	0.0:0.9251:0.0:0.0749|0.0:0.9251:0.0:0.0749|0.0:0.9251:0.0:0.0749	.|.|.	.|420;453|.	.|E7EM71;Q00341|.	.|.;VIGLN_HUMAN|.	Q|N|T	262|453;453;453;420|331	.|ENSP00000375836:K453N;ENSP00000375837:K453N;ENSP00000312042:K453N;ENSP00000399139:K420N|.	.|ENSP00000312042:K453N|.	E|K|R	-|-|-	1|3|2	0|2|0	HDLBP|HDLBP|HDLBP	241841058|241841058|241841058	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.998000|0.998000|0.998000	0.56505|0.56505|0.56505	0.584000|0.584000|0.584000	0.36387|0.36387|0.36387	2.714000|2.714000|2.714000	0.47202|0.47202|0.47202	1.453000|1.453000|1.453000	0.47775|0.47775|0.47775	-0.150000|-0.150000|-0.150000	0.13652|0.13652|0.13652	GAG|AAG|AGA		0.582	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5		NM_203346		13	74	0	0	0	0.020292	0	13	74		
RIN2	54453	broad.mit.edu	37	20	19941346	19941346	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr20:19941346C>G	ENST00000255006.6	+	5	650	c.501C>G	c.(499-501)atC>atG	p.I167M	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Missense_Mutation_p.I118M	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	118	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)	p.I118M(1)|p.I167M(1)		autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						TCCACTAGATCTTCCTGGTTC	0.438																																						uc002wro.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	lung(4)|ovary(1)	5						c.(352-354)ATC>ATG		Ras and Rab interactor 2							54.0	48.0	50.0					20																	19941346		1848	4093	5941	SO:0001583	missense	54453				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr20:19941346C>G	AB060339	CCDS56182.1	20p11.22	2008-07-30			ENSG00000132669	ENSG00000132669			18750	protein-coding gene	gene with protein product		610222				11733506, 1849280, 16423831	Standard	NM_018993		Approved	RASSF4	uc002wro.2	Q8WYP3	OTTHUMG00000031996	ENST00000255006.6:c.501C>G	20.37:g.19941346C>G	ENSP00000255006:p.Ile167Met					RIN2_uc010gcu.1_Missense_Mutation_p.I118M|RIN2_uc010gcv.1_Translation_Start_Site	p.I118M	NM_018993	NP_061866	Q8WYP3	RIN2_HUMAN			4	390	+			118			SH2.		Q00425|Q5TFT8|Q9BQL3|Q9H071	Missense_Mutation	SNP	ENST00000255006.6	37	c.354C>G	CCDS56182.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.765653	0.31228	.	.	ENSG00000132669	ENST00000255006;ENST00000440354	T;T	0.41758	0.99;3.28	5.66	0.458	0.16670	SH2 motif (3);	0.360127	0.32608	N	0.005879	T	0.39708	0.1088	N	0.21194	0.64	0.22745	N	0.99879	D;D	0.67145	0.996;0.976	D;P	0.67725	0.953;0.656	T	0.20505	-1.0273	9	.	.	.	-30.8092	5.6276	0.17490	0.1217:0.4697:0.0:0.4086	.	118;118	E7EPJ1;Q8WYP3	.;RIN2_HUMAN	M	167;118	ENSP00000255006:I167M;ENSP00000391239:I118M	.	I	+	3	3	RIN2	19889346	0.711000	0.27906	0.996000	0.52242	0.481000	0.33189	-0.178000	0.09782	-0.059000	0.13154	0.655000	0.94253	ATC		0.438	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078212.1				3	7	0	0	0	0.004672	0	3	7		
EMILIN3	90187	broad.mit.edu	37	20	39990777	39990777	+	Missense_Mutation	SNP	C	C	T	rs373870684		TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr20:39990777C>T	ENST00000332312.3	-	4	1624	c.1432G>A	c.(1432-1434)Gag>Aag	p.E478K		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	478						cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)		p.E478K(1)		biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				AGGCGCTCCTCGAGGCTCTGC	0.637																																						uc002xjy.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1432-1434)GAG>AAG		elastin microfibril interfacer 3		C	LYS/GLU	0,4406		0,0,2203	69.0	69.0	69.0		1432	5.1	1.0	20		69	1,8599	1.2+/-3.3	0,1,4299	no	missense	EMILIN3	NM_052846.1	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	478/767	39990777	1,13005	2203	4300	6503	SO:0001583	missense	90187					proteinaceous extracellular matrix		g.chr20:39990777C>T	AL031667	CCDS13316.1	20q12	2005-11-06	2004-03-02	2004-03-02	ENSG00000183798	ENSG00000183798		"""EMI domain containing"""	16123	protein-coding gene	gene with protein product	"""chromosome 20 open reading frame 130"""	608929	"""elastin microfibril interfacer 5"""	C20orf130, EMILIN5		12221002	Standard	NM_052846		Approved	dJ620E11.4	uc002xjy.1	Q9NT22	OTTHUMG00000046304	ENST00000332312.3:c.1432G>A	20.37:g.39990777C>T	ENSP00000332806:p.Glu478Lys						p.E478K	NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN			4	1656	-		Myeloproliferative disorder(115;0.00425)	478			Potential.		Q495S5|Q495S6|Q495S7|Q76KT4	Missense_Mutation	SNP	ENST00000332312.3	37	c.1432G>A	CCDS13316.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.031668	0.75504	0.0	1.16E-4	ENSG00000183798	ENST00000332312	T	0.25749	1.78	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.51719	0.1691	M	0.70275	2.135	0.41683	D	0.989304	D	0.89917	1.0	D	0.80764	0.994	T	0.51340	-0.8718	9	.	.	.	-23.5847	18.5652	0.91114	0.0:1.0:0.0:0.0	.	478	Q9NT22	EMIL3_HUMAN	K	478	ENSP00000332806:E478K	.	E	-	1	0	EMILIN3	39424191	1.000000	0.71417	0.980000	0.43619	0.794000	0.44872	7.042000	0.76565	2.382000	0.81193	0.561000	0.74099	GAG		0.637	EMILIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106876.2		XM_029741		14	62	0	0	0	0.020292	0	14	62		
NCOA3	8202	broad.mit.edu	37	20	46265061	46265061	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr20:46265061C>G	ENST00000371998.3	+	12	2122	c.1931C>G	c.(1930-1932)tCa>tGa	p.S644*	NCOA3_ENST00000371997.3_Nonsense_Mutation_p.S654*|NCOA3_ENST00000341724.6_Nonsense_Mutation_p.S654*|NCOA3_ENST00000372004.3_Nonsense_Mutation_p.S644*			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	644	Ser-rich.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.S644*(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CCCCTAGATTCAAGTTGTAAA	0.463																																						uc002xtk.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(3)|lung(1)|skin(1)	5						c.(1930-1932)TCA>TGA		nuclear receptor coactivator 3 isoform a							79.0	74.0	76.0					20																	46265061		2203	4300	6503	SO:0001587	stop_gained	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46265061C>G	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.1931C>G	20.37:g.46265061C>G	ENSP00000361066:p.Ser644*					NCOA3_uc010ght.1_Nonsense_Mutation_p.S654*|NCOA3_uc002xtl.2_Nonsense_Mutation_p.S644*|NCOA3_uc002xtm.2_Nonsense_Mutation_p.S644*|NCOA3_uc002xtn.2_Nonsense_Mutation_p.S644*|NCOA3_uc010zyc.1_Nonsense_Mutation_p.S439*	p.S644*	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN			12	2136	+			644			Ser-rich.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Nonsense_Mutation	SNP	ENST00000371998.3	37	c.1931C>G	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	C	38	6.773906	0.97829	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	.	.	.	5.4	5.4	0.78164	.	0.332110	0.26220	N	0.025621	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-4.1274	17.7093	0.88317	0.0:1.0:0.0:0.0	.	.	.	.	X	644;654;644;644;654	.	ENSP00000345671:S644X	S	+	2	0	NCOA3	45698468	0.156000	0.22821	1.000000	0.80357	0.800000	0.45204	2.581000	0.46077	2.680000	0.91292	0.561000	0.74099	TCA		0.463	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1		NM_006534		39	63	0	0	0	0.023175	0	39	63		
CSE1L	1434	broad.mit.edu	37	20	47691370	47691370	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr20:47691370G>C	ENST00000262982.2	+	11	1238	c.1115G>C	c.(1114-1116)aGa>aCa	p.R372T	CSE1L_ENST00000542325.1_Missense_Mutation_p.R155T|CSE1L_ENST00000396192.3_Missense_Mutation_p.R316T	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	372					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)	p.R372T(1)		breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			TACATAAGGAGAGATTTGGAA	0.388																																						uc002xty.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(1)|skin(1)	2						c.(1114-1116)AGA>ACA		CSE1 chromosome segregation 1-like protein							193.0	176.0	182.0					20																	47691370		2203	4300	6503	SO:0001583	missense	1434				apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity	g.chr20:47691370G>C	U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"""Exportins"""	2431	protein-coding gene	gene with protein product	"""cellular apoptosis susceptibility"""	601342	"""chromosome segregation 1 (yeast homolog)-like"""			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.1115G>C	20.37:g.47691370G>C	ENSP00000262982:p.Arg372Thr					CSE1L_uc010zyg.1_Missense_Mutation_p.R155T|CSE1L_uc010ghx.2_Missense_Mutation_p.R316T|CSE1L_uc010ghy.2_Missense_Mutation_p.R21T|CSE1L_uc010zyh.1_Missense_Mutation_p.R21T	p.R372T	NM_001316	NP_001307	P55060	XPO2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)		11	1249	+			372					A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Missense_Mutation	SNP	ENST00000262982.2	37	c.1115G>C	CCDS13412.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.732181	0.89482	.	.	ENSG00000124207	ENST00000262982;ENST00000542325;ENST00000396192	T;T;T	0.68181	-0.31;-0.31;-0.31	5.54	5.54	0.83059	Armadillo-like helical (1);Armadillo-type fold (1);Exportin/Importin, Cse1-like (1);	0.000000	0.85682	D	0.000000	D	0.83399	0.5246	M	0.84219	2.685	0.80722	D	1	D;D;D;D;D	0.89917	0.969;1.0;0.989;0.999;1.0	P;D;D;D;D	0.79784	0.548;0.983;0.927;0.991;0.993	D	0.85457	0.1164	10	0.72032	D	0.01	-17.1735	17.6733	0.88224	0.0:0.0:1.0:0.0	.	61;155;316;316;372	F5GX54;B4DUC5;A3RLL6;F8W904;P55060	.;.;.;.;XPO2_HUMAN	T	372;155;316	ENSP00000262982:R372T;ENSP00000446477:R155T;ENSP00000379495:R316T	ENSP00000262982:R372T	R	+	2	0	CSE1L	47124777	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.326000	0.96389	2.622000	0.88805	0.655000	0.94253	AGA		0.388	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080345.2		NM_001316		18	33	0	0	0	0.00499	0	18	33		
LAMA5	3911	broad.mit.edu	37	20	60891982	60891982	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr20:60891982C>T	ENST00000252999.3	-	56	7675	c.7609G>A	c.(7609-7611)Gat>Aat	p.D2537N		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2537	Domain II and I.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)	p.D2537N(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CCAGCAGCATCCTCGGCAGCC	0.697																																						uc002ycq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(7609-7611)GAT>AAT		laminin alpha 5 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						28.0	27.0	28.0					20																	60891982		2175	4279	6454	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60891982C>T	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.7609G>A	20.37:g.60891982C>T	ENSP00000252999:p.Asp2537Asn						p.D2537N	NM_005560	NP_005551	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		56	7676	-	Breast(26;1.57e-08)		2537			Potential.|Domain II and I.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.7609G>A	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	c	6.769	0.510841	0.12883	.	.	ENSG00000130702	ENST00000252999	T	0.18502	2.21	4.29	-1.74	0.08056	.	1.309440	0.05118	U	0.490231	T	0.16128	0.0388	L	0.57536	1.79	0.29371	N	0.864017	B	0.22604	0.072	B	0.18263	0.021	T	0.36986	-0.9725	10	0.18710	T	0.47	.	7.0302	0.24962	0.0:0.1791:0.5334:0.2875	.	2537	O15230	LAMA5_HUMAN	N	2537	ENSP00000252999:D2537N	ENSP00000252999:D2537N	D	-	1	0	LAMA5	60325377	0.028000	0.19301	0.005000	0.12908	0.112000	0.19704	0.209000	0.17435	-0.361000	0.08125	0.298000	0.19748	GAT		0.697	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2		NM_005560		4	14	0	0	0	0.009096	0	4	14		
MORC3	23515	broad.mit.edu	37	21	37710178	37710178	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr21:37710178C>G	ENST00000400485.1	+	4	470	c.394C>G	c.(394-396)Cag>Gag	p.Q132E	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	132					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)	p.Q132E(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						CCTTTTGTCTCAGACCTACTT	0.428																																						uc002yvi.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(394-396)CAG>GAG		MORC family CW-type zinc finger 3							159.0	148.0	151.0					21																	37710178		1892	4106	5998	SO:0001583	missense	23515				cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding	g.chr21:37710178C>G	AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"""zinc finger, CW-type with coiled-coil domain 3"", ""zinc finger, CW type with coiled-coil domain 3"""	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.394C>G	21.37:g.37710178C>G	ENSP00000383333:p.Gln132Glu						p.Q132E	NM_015358	NP_056173	Q14149	MORC3_HUMAN			4	470	+			132					A8KA92|Q9UEZ2	Missense_Mutation	SNP	ENST00000400485.1	37	c.394C>G	CCDS42924.1	.	.	.	.	.	.	.	.	.	.	C	31	5.060872	0.93846	.	.	ENSG00000159256	ENST00000400485	T	0.73469	-0.75	5.05	5.05	0.67936	ATPase-like, ATP-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.88269	0.6391	M	0.86573	2.825	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	D	0.90024	0.4130	10	0.66056	D	0.02	-11.9911	18.7644	0.91866	0.0:1.0:0.0:0.0	.	132	Q14149	MORC3_HUMAN	E	132	ENSP00000383333:Q132E	ENSP00000383333:Q132E	Q	+	1	0	MORC3	36632048	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.663000	0.83820	2.501000	0.84356	0.467000	0.42956	CAG		0.428	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000194640.1		NM_015358		41	87	0	0	0	0.013114	0	41	87		
PIGP	51227	broad.mit.edu	37	21	38444858	38444858	+	Silent	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr21:38444858C>T	ENST00000464265.1	-	1	253	c.30G>A	c.(28-30)ctG>ctA	p.L10L	TTC3_ENST00000540756.1_5'Flank|PIGP_ENST00000399103.1_Intron|PIGP_ENST00000399098.1_Intron|TTC3_ENST00000399010.1_5'Flank|PIGP_ENST00000360525.4_Intron|TTC3_ENST00000355666.1_5'Flank|PIGP_ENST00000399102.1_Intron|PIGP_ENST00000329667.3_5'Flank	NM_153681.2	NP_710148.1	P57054	PIGP_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class P	10					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)	p.L10L(1)		kidney(1)|urinary_tract(1)	2		Myeloproliferative disorder(46;0.0412)				GGAACACAATCAGCGCCAGCG	0.577																																						uc002yvw.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(28-30)CTG>CTA		phosphatidylinositol glycan anchor biosynthesis,							164.0	166.0	166.0					21																	38444858		2203	4300	6503	SO:0001819	synonymous_variant	51227				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity	g.chr21:38444858C>T	AB037162	CCDS13649.1, CCDS13650.1	21q22.2	2013-02-26	2006-06-28	2005-11-10	ENSG00000185808	ENSG00000185808	2.4.1.198	"""Phosphatidylinositol glycan anchor biosynthesis"""	3046	protein-coding gene	gene with protein product	"""phosphatidylinositol-n-acetylglucosaminyltranferase subunit"""	605938	"""Down syndrome critical region gene 5"", ""phosphatidylinositol glycan, class P"""	DSCR5		10814524, 15221505	Standard	NR_028352		Approved	DCRC, DSRC	uc002yvw.1	P57054	OTTHUMG00000086653	ENST00000464265.1:c.30G>A	21.37:g.38444858C>T						TTC3_uc002yvz.2_5'Flank|TTC3_uc011aee.1_5'Flank|PIGP_uc002yvy.1_Intron|PIGP_uc002yvx.1_Intron|TTC3_uc011aed.1_5'Flank|TTC3_uc010gne.1_5'Flank	p.L10L	NM_153681	NP_710148	P57054	PIGP_HUMAN			1	246	-		Myeloproliferative disorder(46;0.0412)	10					B2RB18|B2RE99|B5BU92|D3DSG7|J3KR75|Q53Y28|Q96KI1|Q9NZA6	Silent	SNP	ENST00000464265.1	37	c.30G>A	CCDS13649.1																																																																																				0.577	PIGP-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000194769.2		NM_153681		34	133	0	0	0	0.007835	0	34	133		
COL18A1	80781	broad.mit.edu	37	21	46925183	46925183	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr21:46925183C>T	ENST00000359759.4	+	34	4270	c.4249C>T	c.(4249-4251)Cac>Tac	p.H1417Y	COL18A1_ENST00000400337.2_Missense_Mutation_p.H1002Y|COL18A1_ENST00000355480.5_Missense_Mutation_p.H1182Y|SLC19A1_ENST00000567670.1_Intron			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1417	Nonhelical region 10 (NC10).				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)	p.H1182Y(1)		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)		TCCTGGCCCTCACAGGCAGAG	0.697																																						uc011afs.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(4240-4242)CAC>TAC		alpha 1 type XVIII collagen isoform 3 precursor							20.0	27.0	25.0					21																	46925183		1804	4049	5853	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.chr21:46925183C>T		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.4249C>T	21.37:g.46925183C>T	ENSP00000352798:p.His1417Tyr					COL18A1_uc002zhg.2_Missense_Mutation_p.H999Y|COL18A1_uc002zhi.2_Missense_Mutation_p.H1179Y|SLC19A1_uc010gpy.1_Intron|COL18A1_uc002zhj.2_5'UTR|COL18A1_uc002zhk.2_5'Flank	p.H1414Y	NM_130444	NP_569711	P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	35	4261	+			1417			Nonhelical region 10 (NC10).		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	ENST00000359759.4	37	c.4240C>T		.	.	.	.	.	.	.	.	.	.	C	1.107	-0.659239	0.03454	.	.	ENSG00000182871	ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645;ENST00000342220	D;D;D;D	0.92397	-2.65;-2.69;-2.57;-3.03	4.23	1.21	0.21127	.	0.234658	0.34932	N	0.003568	T	0.79592	0.4472	N	0.11131	0.1	0.41691	D	0.989347	B;B;B	0.09022	0.0;0.002;0.001	B;B;B	0.09377	0.001;0.004;0.001	T	0.63363	-0.6654	10	0.18710	T	0.47	.	7.381	0.26856	0.0:0.7447:0.0:0.2553	.	1417;1182;1002	P39060;P39060-1;P39060-2	COIA1_HUMAN;.;.	Y	1002;1002;1182;1417;1417;349	ENSP00000383191:H1002Y;ENSP00000347665:H1182Y;ENSP00000352798:H1417Y;ENSP00000339118:H349Y	ENSP00000339118:H349Y	H	+	1	0	COL18A1	45749611	0.035000	0.19736	0.743000	0.31040	0.299000	0.27559	-0.229000	0.09098	0.004000	0.14682	-0.350000	0.07774	CAC		0.697	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1				5	12	0	0	0	0.014758	0	5	12		
TXNRD2	10587	broad.mit.edu	37	22	19864662	19864662	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr22:19864662C>A	ENST00000400521.1	-	17	1547	c.1541G>T	c.(1540-1542)gGc>gTc	p.G514V	TXNRD2_ENST00000400519.1_Missense_Mutation_p.G513V|TXNRD2_ENST00000400518.1_Missense_Mutation_p.G484V|TXNRD2_ENST00000542719.1_Missense_Mutation_p.G484V|TXNRD2_ENST00000535882.1_Missense_Mutation_p.G513V	NM_006440.3	NP_006431.2	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	514					cell redox homeostasis (GO:0045454)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|response to oxygen radical (GO:0000305)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|thioredoxin-disulfide reductase activity (GO:0004791)	p.G514V(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					GGGGTCCAGGCCTGAGCGCTT	0.667																																						uc011ahc.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(1540-1542)GGC>GTC		thioredoxin reductase 2 precursor							30.0	34.0	33.0					22																	19864662		2107	4219	6326	SO:0001583	missense	10587				cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity	g.chr22:19864662C>A	AF106697	CCDS42981.1, CCDS63402.1	22q11.21	2014-09-17			ENSG00000184470	ENSG00000184470			18155	protein-coding gene	gene with protein product	"""thioredoxin reductase beta"", ""selenoprotein Z"""	606448				9923614, 10215850, 11012661	Standard	NM_006440		Approved	TR, TRXR2, TR3	uc021wlj.1	Q9NNW7	OTTHUMG00000149975	ENST00000400521.1:c.1541G>T	22.37:g.19864662C>A	ENSP00000383365:p.Gly514Val					TXNRD2_uc002zql.1_Missense_Mutation_p.G268V|TXNRD2_uc002zqm.1_RNA|TXNRD2_uc002zqn.1_RNA|TXNRD2_uc002zqo.1_RNA|TXNRD2_uc002zqp.1_RNA|TXNRD2_uc002zqr.1_Missense_Mutation_p.G513V|TXNRD2_uc002zqj.1_RNA|TXNRD2_uc002zqq.1_Missense_Mutation_p.G164V	p.G514V	NM_006440	NP_006431	Q9NNW7	TRXR2_HUMAN			17	1574	-	Colorectal(54;0.0993)		514					O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	Missense_Mutation	SNP	ENST00000400521.1	37	c.1541G>T	CCDS42981.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497163	0.85069	.	.	ENSG00000184470	ENST00000400518;ENST00000538798;ENST00000400521;ENST00000400525;ENST00000540474;ENST00000400519;ENST00000535882;ENST00000542719	T;T;T;T;T;T	0.71341	-0.49;-0.41;-0.29;-0.41;-0.47;-0.56	4.22	4.22	0.49857	FAD/NAD-linked reductase, dimerisation (1);	0.000000	0.85682	D	0.000000	T	0.81842	0.4908	M	0.62209	1.925	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.84301	0.0505	10	0.87932	D	0	1.2682	15.8758	0.79159	0.0:1.0:0.0:0.0	.	514;513;491	Q9NNW7;D3YTF9;D3YTF8	TRXR2_HUMAN;.;.	V	484;514;514;491;418;513;513;484	ENSP00000383362:G484V;ENSP00000383365:G514V;ENSP00000383369:G491V;ENSP00000383363:G513V;ENSP00000439314:G513V;ENSP00000439570:G484V	ENSP00000383362:G484V	G	-	2	0	TXNRD2	18244662	1.000000	0.71417	0.995000	0.50966	0.957000	0.61999	4.864000	0.62990	2.361000	0.80049	0.561000	0.74099	GGC		0.667	TXNRD2-003	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000314903.3		NM_006440		12	6	1	0	1.36491e-13	0.016723	1.49215e-13	12	6		
ARVCF	421	broad.mit.edu	37	22	19959927	19959927	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr22:19959927C>G	ENST00000263207.3	-	17	2940	c.2649G>C	c.(2647-2649)gaG>gaC	p.E883D	ARVCF_ENST00000406259.1_Missense_Mutation_p.E877D|ARVCF_ENST00000406522.1_Missense_Mutation_p.E814D|ARVCF_ENST00000344269.3_Missense_Mutation_p.E820D|ARVCF_ENST00000401994.1_Missense_Mutation_p.E820D	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	883					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)		p.E883D(1)		NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					TGCCAGTTTTCTCGCCCTCTG	0.647																																						uc002zqz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	liver(1)	1						c.(2647-2649)GAG>GAC		armadillo repeat protein							58.0	54.0	55.0					22																	19959927		2203	4300	6503	SO:0001583	missense	421				cell adhesion|multicellular organismal development		protein binding	g.chr22:19959927C>G		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.2649G>C	22.37:g.19959927C>G	ENSP00000263207:p.Glu883Asp					ARVCF_uc002zqy.2_Missense_Mutation_p.E399D	p.E883D	NM_001670	NP_001661	O00192	ARVC_HUMAN			17	2920	-	Colorectal(54;0.0993)		883					B7WNV2	Missense_Mutation	SNP	ENST00000263207.3	37	c.2649G>C	CCDS13771.1	.	.	.	.	.	.	.	.	.	.	C	4.314	0.057608	0.08339	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	T;T;T;T;T	0.67865	-0.29;-0.24;-0.24;-0.24;-0.29	4.38	4.38	0.52667	.	1.816420	0.02455	N	0.086017	T	0.58177	0.2104	N	0.19112	0.55	0.39437	D	0.96718	B;B	0.15719	0.007;0.014	B;B	0.19148	0.024;0.006	T	0.03374	-1.1043	9	.	.	.	-23.2199	14.8169	0.70041	0.0:1.0:0.0:0.0	.	883;399	O00192;E7EV58	ARVC_HUMAN;.	D	883;820;820;814;877	ENSP00000263207:E883D;ENSP00000342042:E820D;ENSP00000384341:E820D;ENSP00000384732:E814D;ENSP00000385444:E877D	.	E	-	3	2	ARVCF	18339927	1.000000	0.71417	0.991000	0.47740	0.054000	0.15201	4.748000	0.62148	2.433000	0.82419	0.462000	0.41574	GAG		0.647	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5		NM_001670		8	31	0	0	0	0.004482	0	8	31		
RSPH14	27156	broad.mit.edu	37	22	23482515	23482515	+	Silent	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr22:23482515C>T	ENST00000216036.4	-	2	289	c.93G>A	c.(91-93)ctG>ctA	p.L31L	RTDR1_ENST00000406876.1_Silent_p.L31L	NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		31								p.L31L(1)		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)		GCTCCTCCTTCAGCTTGGGCA	0.562																																						uc002zwt.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(91-93)CTG>CTA		rhabdoid tumor deletion region protein 1							138.0	108.0	118.0					22																	23482515		2203	4300	6503	SO:0001819	synonymous_variant	27156						binding	g.chr22:23482515C>T																												ENST00000216036.4:c.93G>A	22.37:g.23482515C>T						RTDR1_uc010gtv.1_Silent_p.L31L	p.L31L	NM_014433	NP_055248	Q9UHP6	RTDR1_HUMAN		READ - Rectum adenocarcinoma(21;0.175)	2	251	-	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		31						Silent	SNP	ENST00000216036.4	37	c.93G>A	CCDS13803.1																																																																																				0.562	RTDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319049.1				7	22	0	0	0	0.00308	0	7	22		
TBC1D10A	83874	broad.mit.edu	37	22	30722669	30722669	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr22:30722669C>T	ENST00000215790.7	-	1	366	c.202G>A	c.(202-204)Gag>Aag	p.E68K	TBC1D10A_ENST00000490449.1_5'UTR|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.E68K	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	68					activation of cysteine-type endopeptidase activity (GO:0097202)|positive regulation of proteolysis (GO:0045862)|retrograde transport, endosome to Golgi (GO:0042147)	extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rab GTPase activator activity (GO:0005097)	p.E68K(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CACGCGCCCTCGGCGCCCTGC	0.716																																						uc011akt.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(202-204)GAG>AAG		TBC1 domain family, member 10A							15.0	19.0	18.0					22																	30722669		2192	4270	6462	SO:0001583	missense	83874					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity	g.chr22:30722669C>T	AF331038	CCDS13874.1, CCDS56227.1	22q12.2	2013-07-09	2005-03-10	2005-03-10	ENSG00000099992	ENSG00000099992			23609	protein-coding gene	gene with protein product	"""EBP50-PDZ interactor of 64 kD"""	610020	"""TBC1 domain family, member 10"""	TBC1D10		11285285, 20404108	Standard	NM_001204240		Approved	EPI64, AC004997.C22.2	uc010gvu.3	Q9BXI6	OTTHUMG00000150924	ENST00000215790.7:c.202G>A	22.37:g.30722669C>T	ENSP00000215790:p.Glu68Lys					TBC1D10A_uc010gvu.2_Missense_Mutation_p.E68K|TBC1D10A_uc003ahk.3_Missense_Mutation_p.E68K	p.E68K	NM_031937	NP_114143	Q9BXI6	TB10A_HUMAN			1	226	-			68					B3KXT8|O76053|Q20WK7|Q543A2	Missense_Mutation	SNP	ENST00000215790.7	37	c.202G>A	CCDS13874.1	.	.	.	.	.	.	.	.	.	.	C	11.46	1.644080	0.29246	.	.	ENSG00000099992	ENST00000215790;ENST00000403477	T;T	0.17691	2.26;3.42	3.52	2.38	0.29361	.	0.482456	0.19802	N	0.105721	T	0.11836	0.0288	L	0.38175	1.15	0.80722	D	1	B;B;B	0.28512	0.214;0.084;0.214	B;B;B	0.23716	0.048;0.02;0.048	T	0.10989	-1.0606	10	0.18276	T	0.48	.	11.0743	0.48021	0.0:0.7145:0.2855:0.0	.	68;68;68	Q20WK7;B3KXT8;Q9BXI6	.;.;TB10A_HUMAN	K	68	ENSP00000215790:E68K;ENSP00000384996:E68K	ENSP00000215790:E68K	E	-	1	0	TBC1D10A	29052669	0.769000	0.28531	1.000000	0.80357	0.972000	0.66771	1.156000	0.31712	1.956000	0.56807	0.430000	0.28490	GAG		0.716	TBC1D10A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320550.1		NM_031937		4	20	0	0	0	0.014758	0	4	20		
CACNG2	10369	broad.mit.edu	37	22	36960929	36960929	+	Silent	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr22:36960929C>T	ENST00000300105.6	-	4	1422	c.441G>A	c.(439-441)ctG>ctA	p.L147L	RP5-1119A7.17_ENST00000562756.1_RNA	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	147					membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|neuromuscular junction development (GO:0007528)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.L147L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						TGATGTTACTCAGACCTGCGG	0.557																																						uc003aps.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(439-441)CTG>CTA		voltage-dependent calcium channel gamma-2							67.0	77.0	73.0					22																	36960929		2183	4283	6466	SO:0001819	synonymous_variant	10369				membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr22:36960929C>T	AF096322	CCDS13931.1	22q13.1	2006-08-01			ENSG00000166862	ENSG00000166862		"""Calcium channel subunits"""	1406	protein-coding gene	gene with protein product		602911					Standard	NM_006078		Approved	stargazin, MGC138502, MGC138504	uc003aps.2	Q9Y698	OTTHUMG00000030612	ENST00000300105.6:c.441G>A	22.37:g.36960929C>T							p.L147L	NM_006078	NP_006069	Q9Y698	CCG2_HUMAN			4	723	-			147			Helical; (Potential).		Q2M1M1|Q5TGT3|Q9UGZ7	Silent	SNP	ENST00000300105.6	37	c.441G>A	CCDS13931.1																																																																																				0.557	CACNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075500.2				71	99	0	0	0	0.01441	0	71	99		
RPL3	6122	broad.mit.edu	37	22	39708981	39708981	+	Silent	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr22:39708981C>T	ENST00000216146.4	-	10	1349	c.1176G>A	c.(1174-1176)ctG>ctA	p.L392L	RPL3_ENST00000401609.1_Silent_p.L340L|RPL3_ENST00000465618.1_5'UTR|SNORD83A_ENST00000386747.1_RNA|SNORD83B_ENST00000386745.1_RNA	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN	ribosomal protein L3	392					cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.L392L(1)		breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)				Homoharringtonine(DB04865)	GGTCTTTCTTCAGTGGTCCCT	0.498																																						uc003axi.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	breast(1)|kidney(1)	2						c.(1174-1176)CTG>CTA		ribosomal protein L3 isoform a							70.0	66.0	67.0					22																	39708981		2203	4300	6503	SO:0001819	synonymous_variant	6122				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr22:39708981C>T	AB007166	CCDS13988.1	22q13	2011-04-06			ENSG00000100316	ENSG00000100316		"""L ribosomal proteins"""	10332	protein-coding gene	gene with protein product		604163				2891103, 9582194	Standard	NM_000967		Approved	L3	uc003axi.3	P39023	OTTHUMG00000151079	ENST00000216146.4:c.1176G>A	22.37:g.39708981C>T						RPL3_uc003axh.2_Silent_p.L343L|RPL3_uc003axj.2_Silent_p.L240L|RPL3_uc010gxx.2_Silent_p.L300L|RPL3_uc003axg.2_Silent_p.L340L	p.L392L	NM_000967	NP_000958	P39023	RL3_HUMAN			10	1244	-	Melanoma(58;0.04)		392					B2RDV9|Q15548|Q5I0G0	Silent	SNP	ENST00000216146.4	37	c.1176G>A	CCDS13988.1																																																																																				0.498	RPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321196.1		NM_000967		8	27	0	0	0	0.00308	0	8	27		
TNFRSF13C	115650	broad.mit.edu	37	22	42321519	42321519	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr22:42321519C>T	ENST00000291232.3	-	3	451	c.407G>A	c.(406-408)gGa>gAa	p.G136E	MIR378I_ENST00000582688.1_RNA|CTA-250D10.23_ENST00000566575.1_lincRNA	NM_052945.3	NP_443177.1	Q96RJ3	TR13C_HUMAN	tumor necrosis factor receptor superfamily, member 13C	136					B cell costimulation (GO:0031296)|B cell homeostasis (GO:0001782)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of germinal center formation (GO:0002636)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.G136E(1)		lung(2)|urinary_tract(1)	3						ATCAGAGATTCCCGGAGACAG	0.637																																						uc003bbl.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(406-408)GGA>GAA		BAFF receptor							62.0	63.0	63.0					22																	42321519		2203	4300	6503	SO:0001583	missense	115650					integral to membrane	receptor activity	g.chr22:42321519C>T	AF373846	CCDS14024.1	22q13.1-q13.3	2014-09-17			ENSG00000159958	ENSG00000159958		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	17755	protein-coding gene	gene with protein product		606269				11509692	Standard	NM_052945		Approved	BAFFR, CD268	uc003bbl.2	Q96RJ3	OTTHUMG00000151271	ENST00000291232.3:c.407G>A	22.37:g.42321519C>T	ENSP00000291232:p.Gly136Glu					WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|TNFRSF13C_uc010gyp.1_Missense_Mutation_p.G137E	p.G136E	NM_052945	NP_443177	Q96RJ3	TR13C_HUMAN			3	451	-			136			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000291232.3	37	c.407G>A	CCDS14024.1	.	.	.	.	.	.	.	.	.	.	c	12.81	2.048941	0.36181	.	.	ENSG00000159958	ENST00000291232	T	0.27890	1.64	4.93	-2.03	0.07365	.	1.487020	0.04607	N	0.399540	T	0.13157	0.0319	N	0.12746	0.255	0.09310	N	1	B;B	0.23058	0.079;0.079	B;B	0.18263	0.021;0.021	T	0.14172	-1.0482	10	0.14252	T	0.57	0.3663	1.2253	0.01932	0.1465:0.3921:0.1433:0.3181	.	136;136	Q5H8V1;Q96RJ3	.;TR13C_HUMAN	E	136	ENSP00000291232:G136E	ENSP00000291232:G136E	G	-	2	0	TNFRSF13C	40651465	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.110000	0.15437	-0.316000	0.08690	-0.121000	0.15023	GGA		0.637	TNFRSF13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322046.1				23	55	0	0	0	0.021523	0	23	55		
A4GALT	53947	broad.mit.edu	37	22	43089310	43089310	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr22:43089310G>A	ENST00000401850.1	-	2	1137	c.648C>T	c.(646-648)ctC>ctT	p.L216L	A4GALT_ENST00000381278.3_Silent_p.L216L|A4GALT_ENST00000249005.2_Silent_p.L216L|A4GALT_ENST00000465765.2_5'Flank			Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	216					globoside biosynthetic process (GO:0001576)|glycosphingolipid biosynthetic process (GO:0006688)|plasma membrane organization (GO:0007009)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	galactosyltransferase activity (GO:0008378)|lactosylceramide 4-alpha-galactosyltransferase activity (GO:0050512)|toxic substance binding (GO:0015643)	p.L216L(1)		NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						ACGCGCCGTTGAGGACGTAGC	0.617																																						uc003bdb.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(2)	2						c.(646-648)CTC>CTT		alpha 1,4-galactosyltransferase							44.0	36.0	39.0					22																	43089310		2203	4299	6502	SO:0001819	synonymous_variant	53947				glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity	g.chr22:43089310G>A		CCDS14041.1	22q13.2	2014-07-18	2008-07-31		ENSG00000128274	ENSG00000128274	2.4.1.228		18149	protein-coding gene	gene with protein product	"""Gb3 synthase"", ""CD77 synthase"", ""globotriaosylceramide synthase"", ""lactosylceramide 4-alpha-galactosyltransferase"""	607922	"""alpha 1,4-galactosyltransferase (globotriaosylceramide synthase, P blood group)"""			10854428	Standard	XM_005261643		Approved	A14GALT, Gb3S, P(k)	uc003bdb.3	Q9NPC4	OTTHUMG00000150744	ENST00000401850.1:c.648C>T	22.37:g.43089310G>A						A4GALT_uc010gzd.2_Silent_p.L216L	p.L216L	NM_017436	NP_059132	Q9NPC4	A4GAT_HUMAN			3	909	-			216			Lumenal (Potential).		B2R7C4|Q9P1X5	Silent	SNP	ENST00000401850.1	37	c.648C>T	CCDS14041.1																																																																																				0.617	A4GALT-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319917.1		NM_017436		11	32	0	0	0	0.013537	0	11	32		
BIK	638	broad.mit.edu	37	22	43520163	43520163	+	Silent	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr22:43520163C>T	ENST00000216115.2	+	2	198	c.135C>T	c.(133-135)ttC>ttT	p.F45F		NM_001197.4	NP_001188.1	Q13323	BIK_HUMAN	BCL2-interacting killer (apoptosis-inducing)	45					apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|male gonad development (GO:0008584)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)		p.F45F(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1)	5		Ovarian(80;0.0694)				TGGAGGACTTCGATTCTTTGG	0.567																																						uc003bdk.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(133-135)TTC>TTT		BCL2-interacting killer							126.0	126.0	126.0					22																	43520163		2203	4300	6503	SO:0001819	synonymous_variant	638				apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	endomembrane system|integral to membrane		g.chr22:43520163C>T	U34584	CCDS14044.1	22q13.31	2014-03-07			ENSG00000100290	ENSG00000100290			1051	protein-coding gene	gene with protein product		603392				7478623, 10591208	Standard	NM_001197		Approved	NBK	uc003bdk.3	Q13323	OTTHUMG00000150703	ENST00000216115.2:c.135C>T	22.37:g.43520163C>T							p.F45F	NM_001197	NP_001188	Q13323	BIK_HUMAN			2	195	+		Ovarian(80;0.0694)	45					Q16582|Q6FH93	Silent	SNP	ENST00000216115.2	37	c.135C>T	CCDS14044.1																																																																																				0.567	BIK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319676.1		NM_001197		33	62	0	0	0	0.017118	0	33	62		
EFCAB6	64800	broad.mit.edu	37	22	43972201	43972201	+	Silent	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr22:43972201C>T	ENST00000262726.7	-	26	3649	c.3396G>A	c.(3394-3396)caG>caA	p.Q1132Q	EFCAB6_ENST00000396231.2_Silent_p.Q980Q	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1132					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.Q1132Q(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				AGCTAAAGTTCTGGAGAAAAT	0.313																																						uc003bdy.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7						c.(3394-3396)CAG>CAA		CAP-binding protein complex interacting protein							43.0	48.0	46.0					22																	43972201		2203	4299	6502	SO:0001819	synonymous_variant	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:43972201C>T	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.3396G>A	22.37:g.43972201C>T						EFCAB6_uc003bdz.1_Silent_p.Q980Q|EFCAB6_uc010gzi.1_Silent_p.Q980Q|EFCAB6_uc010gzj.1_Silent_p.Q358Q	p.Q1132Q	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN			26	3611	-		Ovarian(80;0.0247)|all_neural(38;0.025)	1132					A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Silent	SNP	ENST00000262726.7	37	c.3396G>A	CCDS14049.1																																																																																				0.313	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1		NM_022785		11	37	0	0	0	0.016723	0	11	37		
GTSE1	51512	broad.mit.edu	37	22	46725395	46725395	+	Silent	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr22:46725395G>C	ENST00000454366.1	+	11	2279	c.2067G>C	c.(2065-2067)ctG>ctC	p.L689L		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	670					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)		p.L670L(1)|p.L689L(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		GCAGGCCTCTGATCGACCTCA	0.527																																					GBM(153;542 1915 12487 29016 50495)	uc011aqy.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(1)	1						c.(2065-2067)CTG>CTC		G-2 and S-phase expressed 1							133.0	119.0	124.0					22																	46725395		2203	4300	6503	SO:0001819	synonymous_variant	51512				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		g.chr22:46725395G>C	AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.2067G>C	22.37:g.46725395G>C						GTSE1_uc011aqz.1_Silent_p.L536L|GTSE1_uc003bhn.2_RNA|uc011ara.1_5'Flank|uc003bho.3_5'Flank	p.L689L	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)	11	2279	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	670					B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Silent	SNP	ENST00000454366.1	37	c.2067G>C	CCDS14074.2																																																																																				0.527	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2		NM_016426		43	80	0	0	0	0.007835	0	43	80		
ZFYVE20	64145	broad.mit.edu	37	3	15124021	15124021	+	Silent	SNP	G	G	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr3:15124021G>T	ENST00000253699.3	-	9	1306	c.693C>A	c.(691-693)atC>atA	p.I231I	ZFYVE20_ENST00000449964.2_Intron|ZFYVE20_ENST00000476527.2_Silent_p.I231I|ZFYVE20_ENST00000435849.3_Intron	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	231	Necessary for the correct targeting to endosomes.|Ser-rich.				blood coagulation (GO:0007596)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	endosome (GO:0005768)|endosome membrane (GO:0010008)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.I231I(1)		NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						TCATGCTGCTGATGCTGCCTC	0.602																																						uc003bzm.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(2)	2						c.(691-693)ATC>ATA		FYVE-finger-containing Rab5 effector protein							148.0	111.0	124.0					3																	15124021		2203	4300	6503	SO:0001819	synonymous_variant	64145				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chr3:15124021G>T	AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381		"""Zinc fingers, FYVE domain containing"""	20759	protein-coding gene	gene with protein product		609511				11062261	Standard	XR_427283		Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.693C>A	3.37:g.15124021G>T						ZFYVE20_uc010hek.1_Silent_p.I231I|ZFYVE20_uc011avn.1_Intron	p.I231I	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN			9	1307	-			231			FYVE-type.|Ser-rich.|Necessary for the correct targeting to endosomes.		B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Silent	SNP	ENST00000253699.3	37	c.693C>A	CCDS2623.1																																																																																				0.602	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252102.2		NM_022340		20	20	1	0	2.21704e-12	0.016522	2.41688e-12	20	20		
OSBPL10	114884	broad.mit.edu	37	3	31710301	31710301	+	Silent	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr3:31710301C>T	ENST00000396556.2	-	10	2051	c.1929G>A	c.(1927-1929)gtG>gtA	p.V643V	OSBPL10_ENST00000438237.2_Silent_p.V579V	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	643					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)	p.V643V(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		GGTTGTGCTTCACTTCTGCGG	0.393																																						uc003cev.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	skin(1)	1						c.(1927-1929)GTG>GTA		oxysterol-binding protein-like protein 10							257.0	219.0	232.0					3																	31710301		2203	4300	6503	SO:0001819	synonymous_variant	114884				lipid transport		lipid binding	g.chr3:31710301C>T	AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16395	protein-coding gene	gene with protein product		606738					Standard	NM_001174060		Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.1929G>A	3.37:g.31710301C>T						OSBPL10_uc003ceu.1_Silent_p.V400V|OSBPL10_uc011axf.1_Silent_p.V579V	p.V643V	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN		STAD - Stomach adenocarcinoma(1;0.00406)	11	2310	-			643					B4E212|Q9BTU5	Silent	SNP	ENST00000396556.2	37	c.1929G>A	CCDS2651.1																																																																																				0.393	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253165.2				44	36	0	0	0	0.013114	0	44	36		
ZKSCAN7	55888	broad.mit.edu	37	3	44612209	44612209	+	Missense_Mutation	SNP	G	G	C	rs369490311		TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr3:44612209G>C	ENST00000273320.3	+	6	2036	c.1607G>C	c.(1606-1608)aGa>aCa	p.R536T	ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.R536T|RP11-944L7.5_ENST00000419137.1_Intron|ZKSCAN7_ENST00000341840.3_Intron|RP11-944L7.4_ENST00000457331.1_RNA	NM_018651.2	NP_061121.2	Q9P0L1	ZKSC7_HUMAN	zinc finger with KRAB and SCAN domains 7	536					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R536T(1)									TGTTCCAATAGAAATCTCATT	0.438																																						uc010hin.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(1606-1608)AGA>ACA		zinc finger protein 167 isoform 1							121.0	123.0	122.0					3																	44612209		2203	4300	6503	SO:0001583	missense	55888				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44612209G>C	L32164, AY280798	CCDS2714.1, CCDS2715.1, CCDS74924.1	3p21.32	2013-01-09	2013-01-09	2013-01-09	ENSG00000196345	ENSG00000196345		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12955	protein-coding gene	gene with protein product			"""zinc finger protein 64"", ""zinc finger protein 448"", ""zinc finger protein 167"""	ZNF64, ZNF448, ZNF167		7814019, 1505991	Standard	XM_005265323		Approved	FLJ12738, ZSCAN39	uc003cnj.3	Q9P0L1	OTTHUMG00000133094	ENST00000273320.3:c.1607G>C	3.37:g.44612209G>C	ENSP00000273320:p.Arg536Thr					ZNF167_uc003cni.2_Intron|ZNF167_uc010hio.2_Intron|ZNF167_uc003cnj.2_Missense_Mutation_p.R536T|ZNF167_uc003cnk.2_Intron	p.R536T	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)	6	1995	+			536			C2H2-type 6.		A0PJV3|A8K5H0|Q6WL09|Q96FQ2	Missense_Mutation	SNP	ENST00000273320.3	37	c.1607G>C	CCDS2715.1	.	.	.	.	.	.	.	.	.	.	.	5.104	0.204781	0.09704	.	.	ENSG00000196345	ENST00000426540;ENST00000273320	T;T	0.07688	3.17;3.17	4.36	1.3	0.21679	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04770	0.0129	N	0.12887	0.27	0.09310	N	0.999999	B	0.11235	0.004	B	0.08055	0.003	T	0.41770	-0.9490	9	0.33141	T	0.24	-13.1581	8.1102	0.30909	0.0:0.3889:0.3392:0.2718	.	536	Q9P0L1	ZN167_HUMAN	T	536	ENSP00000395524:R536T;ENSP00000273320:R536T	ENSP00000273320:R536T	R	+	2	0	ZNF167	44587213	0.000000	0.05858	0.087000	0.20705	0.993000	0.82548	0.371000	0.20450	0.446000	0.26666	0.655000	0.94253	AGA		0.438	ZKSCAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256752.4		NM_018651		39	27	0	0	0	0.025465	0	39	27		
PTH1R	5745	broad.mit.edu	37	3	46939420	46939420	+	Missense_Mutation	SNP	C	C	T	rs199707422		TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr3:46939420C>T	ENST00000313049.5	+	4	592	c.389C>T	c.(388-390)cCc>cTc	p.P130L	PTH1R_ENST00000430002.2_Missense_Mutation_p.P130L|PTH1R_ENST00000490109.1_3'UTR|PTH1R_ENST00000449590.1_Missense_Mutation_p.P130L|PTH1R_ENST00000418619.1_Missense_Mutation_p.P130L			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	130					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|bone mineralization (GO:0030282)|bone resorption (GO:0045453)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|osteoblast development (GO:0002076)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|skeletal system development (GO:0001501)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	parathyroid hormone receptor activity (GO:0004991)|peptide hormone binding (GO:0017046)|protein self-association (GO:0043621)	p.P130L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19					Preotact(DB05829)|Teriparatide(DB06285)	GTGGCTGTGCCCTGTCCGGAC	0.607																																						uc003cqm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(1)	1						c.(388-390)CCC>CTC		parathyroid hormone receptor 1 precursor							62.0	61.0	62.0					3																	46939420		2203	4300	6503	SO:0001583	missense	5745	Ollier_disease_/_Maffuci_syndrome				cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association	g.chr3:46939420C>T		CCDS2747.1	3p22-p21.1	2012-08-10	2008-11-18	2008-11-18	ENSG00000160801	ENSG00000160801		"""GPCR / Class B : Parathyroid hormone receptors"""	9608	protein-coding gene	gene with protein product		168468	"""parathyroid hormone receptor 1"""	PTHR, PTHR1		8020952	Standard	NM_001184744		Approved		uc021wxg.1	Q03431	OTTHUMG00000133515	ENST00000313049.5:c.389C>T	3.37:g.46939420C>T	ENSP00000321999:p.Pro130Leu					PTH1R_uc003cqn.2_Missense_Mutation_p.P130L	p.P130L	NM_000316	NP_000307	Q03431	PTH1R_HUMAN			6	592	+			130			Extracellular (Potential).		Q2M1U3	Missense_Mutation	SNP	ENST00000313049.5	37	c.389C>T	CCDS2747.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.441358	0.63067	.	.	ENSG00000160801	ENST00000449590;ENST00000418619;ENST00000427125;ENST00000430002;ENST00000313049	T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43	5.24	5.24	0.73138	GPCR, family 2, secretin-like, conserved site (1);GPCR, family 2, extracellular hormone receptor domain (3);	.	.	.	.	T	0.57636	0.2067	M	0.77313	2.365	0.58432	D	0.999996	B	0.32324	0.364	B	0.34931	0.192	T	0.59434	-0.7455	9	0.39692	T	0.17	.	16.3295	0.83004	0.0:1.0:0.0:0.0	.	130	Q03431	PTH1R_HUMAN	L	130	ENSP00000402723:P130L;ENSP00000411424:P130L;ENSP00000400977:P130L;ENSP00000413774:P130L;ENSP00000321999:P130L	ENSP00000321999:P130L	P	+	2	0	PTH1R	46914424	0.825000	0.29262	1.000000	0.80357	0.995000	0.86356	1.861000	0.39438	2.448000	0.82819	0.561000	0.74099	CCC		0.607	PTH1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257481.1		NM_000316		20	15	0	0	0	0.007413	0	20	15		
P4HTM	54681	broad.mit.edu	37	3	49043565	49043565	+	Silent	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr3:49043565C>G	ENST00000383729.4	+	8	1604	c.1233C>G	c.(1231-1233)gtC>gtG	p.V411V	WDR6_ENST00000448293.1_5'Flank|WDR6_ENST00000395474.3_5'Flank|P4HTM_ENST00000343546.4_Silent_p.V472V|WDR6_ENST00000415265.2_5'Flank|WDR6_ENST00000608424.1_5'Flank	NM_177939.2	NP_808808.1	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	411	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)	p.V472V(1)|p.V411V(1)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	ACCTGCGTGTCAAGCCCCAAC	0.612																																						uc003cvg.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	skin(1)|pancreas(1)	2						c.(1231-1233)GTC>GTG		hypoxia-inducible factor prolyl 4-hydroxylase	Vitamin C(DB00126)						95.0	82.0	86.0					3																	49043565		2203	4300	6503	SO:0001819	synonymous_variant	54681					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr3:49043565C>G		CCDS2781.2, CCDS43089.1	3p21.31	2009-01-14			ENSG00000178467	ENSG00000178467			28858	protein-coding gene	gene with protein product	"""Prolyl hydroxlase domain-containing 4"", ""hypoxia inducible factor prolyl 4 hydroxylase"""	614584				12163023, 17726031	Standard	XR_245139		Approved	P4H-TM, PHD4, PH4, HIFPH4, FLJ20262, EGLN4, PH-4	uc003cvh.3	Q9NXG6	OTTHUMG00000074057	ENST00000383729.4:c.1233C>G	3.37:g.49043565C>G						P4HTM_uc003cvh.2_Silent_p.V472V|WDR6_uc011bbx.1_5'Flank|WDR6_uc003cvj.2_5'Flank|WDR6_uc011bby.1_5'Flank|WDR6_uc010hkn.2_5'Flank|WDR6_uc011bbz.1_5'Flank	p.V411V	NM_177939	NP_808808	Q9NXG6	P4HTM_HUMAN			8	1582	+			411			Lumenal (Potential).|Fe2OG dioxygenase.		Q6PAG6|Q8TCJ9|Q8WV55|Q96F22|Q9BW77	Silent	SNP	ENST00000383729.4	37	c.1233C>G	CCDS43089.1																																																																																				0.612	P4HTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157211.1		NM_177938		32	36	0	0	0	0.009535	0	32	36		
LAMB2	3913	broad.mit.edu	37	3	49161498	49161498	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr3:49161498G>A	ENST00000418109.1	-	25	3624	c.3460C>T	c.(3460-3462)Cag>Tag	p.Q1154*	LAMB2_ENST00000305544.4_Nonsense_Mutation_p.Q1154*|LAMB2_ENST00000464891.1_5'Flank	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1154	Laminin EGF-like 13. {ECO:0000255|PROSITE-ProRule:PRU00460}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.Q1154*(1)		NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CGGTGACACTGAGGTGTATCT	0.562																																						uc003cwe.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(3)	3						c.(3460-3462)CAG>TAG		laminin, beta 2 precursor							72.0	73.0	72.0					3																	49161498		2203	4300	6503	SO:0001587	stop_gained	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49161498G>A		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.3460C>T	3.37:g.49161498G>A	ENSP00000388325:p.Gln1154*						p.Q1154*	NM_002292	NP_002283	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	24	3759	-			1154			Laminin EGF-like 13.		Q16321	Nonsense_Mutation	SNP	ENST00000418109.1	37	c.3460C>T	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	G	42	9.213881	0.99103	.	.	ENSG00000172037	ENST00000418109;ENST00000305544	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	19.7607	0.96316	0.0:0.0:1.0:0.0	.	.	.	.	X	1154	.	ENSP00000307156:Q1154X	Q	-	1	0	LAMB2	49136502	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.608000	0.82898	2.686000	0.91538	0.561000	0.74099	CAG		0.562	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1		NM_002292		13	11	0	0	0	0.016723	0	13	11		
NISCH	11188	broad.mit.edu	37	3	52526262	52526262	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr3:52526262C>T	ENST00000479054.1	+	22	4351	c.4279C>T	c.(4279-4281)Ccg>Tcg	p.P1427S	NISCH_ENST00000345716.4_Missense_Mutation_p.P1427S			Q9Y2I1	NISCH_HUMAN	nischarin	1427					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)	p.P1427S(1)		NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	CCAGACCTACCCGCAGGCCCT	0.652																																						uc011beg.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|central_nervous_system(1)	4						c.(4279-4281)CCG>TCG		nischarin							117.0	114.0	115.0					3																	52526262		2203	4299	6502	SO:0001583	missense	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52526262C>T	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"""imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected"""	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.4279C>T	3.37:g.52526262C>T	ENSP00000418232:p.Pro1427Ser					NISCH_uc003ded.3_Missense_Mutation_p.P1427S|NISCH_uc003dee.3_Missense_Mutation_p.P916S|NISCH_uc003deg.1_Intron|NISCH_uc003deh.3_Missense_Mutation_p.P176S	p.P1427S	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	22	4351	+			1427					C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	ENST00000479054.1	37	c.4279C>T	CCDS33767.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.757925	0.89843	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000433196;ENST00000414197	T;T	0.09255	3.0;3.0	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.25269	0.0614	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.00839	-1.1545	10	0.48119	T	0.1	-13.4492	19.116	0.93340	0.0:1.0:0.0:0.0	.	1427	Q9Y2I1	NISCH_HUMAN	S	1427;1427;351;771	ENSP00000418232:P1427S;ENSP00000339958:P1427S	ENSP00000339958:P1427S	P	+	1	0	NISCH	52501302	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	7.189000	0.77747	2.535000	0.85469	0.561000	0.74099	CCG		0.652	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1		NM_007184		67	65	0	0	0	0.01441	0	67	65		
SLMAP	7871	broad.mit.edu	37	3	57827095	57827095	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr3:57827095C>G	ENST00000428312.1	+	3	510	c.416C>G	c.(415-417)tCa>tGa	p.S139*	SLMAP_ENST00000295952.3_Nonsense_Mutation_p.S139*|SLMAP_ENST00000295951.3_Nonsense_Mutation_p.S139*|SLMAP_ENST00000449503.2_Nonsense_Mutation_p.S139*|SLMAP_ENST00000383718.3_Nonsense_Mutation_p.S139*|SLMAP_ENST00000416870.1_5'UTR			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	139	Necessary for targeting to centrosomes. {ECO:0000250}.				muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|smooth endoplasmic reticulum (GO:0005790)		p.S139*(1)		endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		CGGCTCCGCTCAGAGTGAGTA	0.358																																						uc003dje.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)		0						c.(415-417)TCA>TGA		sarcolemma associated protein							64.0	67.0	66.0					3																	57827095		2203	4300	6503	SO:0001587	stop_gained	7871				muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding	g.chr3:57827095C>G	AF100750	CCDS33774.1	3p21.2-p14.3	2008-07-18			ENSG00000163681	ENSG00000163681			16643	protein-coding gene	gene with protein product	"""Sarcolemmal-associated protein"""	602701				9405447, 11042152	Standard	NM_007159		Approved	SLAP, KIAA1601	uc003djd.1	Q14BN4	OTTHUMG00000133764	ENST00000428312.1:c.416C>G	3.37:g.57827095C>G	ENSP00000398661:p.Ser139*					SLMAP_uc003djc.1_Nonsense_Mutation_p.S139*|SLMAP_uc003djd.1_Nonsense_Mutation_p.S139*|SLMAP_uc003djf.1_Nonsense_Mutation_p.S139*	p.S139*	NM_007159	NP_009090	Q14BN4	SLMAP_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)	3	621	+			139			Necessary for targeting to centrosomes (By similarity).|Cytoplasmic (Potential).		Q14C95|Q6AI54|Q6UXC9|Q6ZVQ8|Q8NCW9|Q9H297|Q9HCH1|Q9Y681	Nonsense_Mutation	SNP	ENST00000428312.1	37	c.416C>G		.	.	.	.	.	.	.	.	.	.	C	29.5	5.012540	0.93346	.	.	ENSG00000163681	ENST00000295951;ENST00000295952;ENST00000383718;ENST00000428312;ENST00000449503	.	.	.	4.43	4.43	0.53597	.	0.337536	0.31134	N	0.008197	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-0.0271	17.0673	0.86562	0.0:1.0:0.0:0.0	.	.	.	.	X	139	.	ENSP00000295951:S139X	S	+	2	0	SLMAP	57802135	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.442000	0.59988	1.993000	0.58246	0.655000	0.94253	TCA		0.358	SLMAP-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351584.1		NM_007159		6	35	0	0	0	0.00308	0	6	35		
ZDHHC23	254887	broad.mit.edu	37	3	113673211	113673211	+	Silent	SNP	C	C	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr3:113673211C>A	ENST00000330212.3	+	3	1125	c.826C>A	c.(826-828)Cgg>Agg	p.R276R	ZDHHC23_ENST00000498275.1_Silent_p.R270R	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	276					protein localization to plasma membrane (GO:0072659)|protein palmitoylation (GO:0018345)	integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.R276R(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						ATGGCACTGCCGGATATGTGG	0.517																																						uc003eau.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)	2						c.(826-828)CGG>AGG		zinc finger, DHHC domain containing 23							50.0	48.0	49.0					3																	113673211		2203	4300	6503	SO:0001819	synonymous_variant	254887					integral to membrane	acyltransferase activity|zinc ion binding	g.chr3:113673211C>A	AK127025	CCDS33827.1	3q13.31	2008-05-02			ENSG00000184307	ENSG00000184307		"""Zinc fingers, DHHC-type"""	28654	protein-coding gene	gene with protein product						12477932	Standard	NM_173570		Approved	MGC42530	uc003eau.3	Q8IYP9	OTTHUMG00000159335	ENST00000330212.3:c.826C>A	3.37:g.113673211C>A						ZDHHC23_uc003eav.2_Silent_p.R270R	p.R276R	NM_173570	NP_775841	Q8IYP9	ZDH23_HUMAN			3	1125	+			276			DHHC-type.		D3DN76	Silent	SNP	ENST00000330212.3	37	c.826C>A	CCDS33827.1																																																																																				0.517	ZDHHC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354702.1		NM_173570		9	22	1	0	1.12685e-05	0.004482	1.17862e-05	9	22		
HCLS1	3059	broad.mit.edu	37	3	121354589	121354589	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr3:121354589T>C	ENST00000314583.3	-	9	775	c.684A>G	c.(682-684)atA>atG	p.I228M	HCLS1_ENST00000428394.2_Missense_Mutation_p.I191M|HCLS1_ENST00000473883.1_5'UTR	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	228					actin filament polymerization (GO:0030041)|cellular response to cytokine stimulus (GO:0071345)|erythrocyte differentiation (GO:0030218)|intracellular signal transduction (GO:0035556)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell proliferation (GO:0008284)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|regulation of actin filament polymerization (GO:0030833)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein kinase binding (GO:0019901)|RNA polymerase II transcription factor binding (GO:0001085)	p.I228M(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		CACCGGCTTCTATGGGCGTCG	0.522																																						uc003eeh.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(682-684)ATA>ATG		hematopoietic cell-specific Lyn substrate 1							121.0	126.0	124.0					3																	121354589		2203	4300	6503	SO:0001583	missense	3059				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:121354589T>C		CCDS3003.1	3q13	2007-08-03			ENSG00000180353	ENSG00000180353			4844	protein-coding gene	gene with protein product	"""cortactin-like"""	601306				8978766, 15710041	Standard	NM_001292041		Approved	HS1, CTTNL	uc003eeh.4	P14317	OTTHUMG00000159409	ENST00000314583.3:c.684A>G	3.37:g.121354589T>C	ENSP00000320176:p.Ile228Met					HCLS1_uc011bjj.1_Missense_Mutation_p.I191M|HCLS1_uc011bjk.1_RNA	p.I228M	NM_005335	NP_005326	P14317	HCLS1_HUMAN		GBM - Glioblastoma multiforme(114;0.0912)	9	809	-			228					B4DQ69|Q53Y93|Q6IBK9|Q9UDK0	Missense_Mutation	SNP	ENST00000314583.3	37	c.684A>G	CCDS3003.1	.	.	.	.	.	.	.	.	.	.	T	11.30	1.597249	0.28445	.	.	ENSG00000180353	ENST00000314583;ENST00000428394	T;T	0.20598	2.07;2.06	4.76	2.19	0.27852	.	0.364494	0.31884	N	0.006916	T	0.19967	0.0480	L	0.43152	1.355	0.32598	N	0.526269	P;D	0.54047	0.761;0.964	B;P	0.48627	0.293;0.584	T	0.20371	-1.0277	10	0.34782	T	0.22	-3.9816	6.3749	0.21501	0.157:0.0:0.1637:0.6794	.	191;228	E7EVW7;P14317	.;HCLS1_HUMAN	M	228;191	ENSP00000320176:I228M;ENSP00000387645:I191M	ENSP00000320176:I228M	I	-	3	3	HCLS1	122837279	0.705000	0.27846	0.999000	0.59377	0.893000	0.52053	-0.026000	0.12392	0.341000	0.23771	0.533000	0.62120	ATA		0.522	HCLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355144.1		NM_005335		46	49	0	0	0	0.01441	0	46	49		
PARP9	83666	broad.mit.edu	37	3	122247537	122247537	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr3:122247537C>T	ENST00000360356.2	-	11	2466	c.2239G>A	c.(2239-2241)Gag>Aag	p.E747K	PARP9_ENST00000471785.1_Missense_Mutation_p.E712K|PARP9_ENST00000477522.2_Missense_Mutation_p.E712K|PARP9_ENST00000492382.1_Missense_Mutation_p.E292K	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	747	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.E747K(1)		endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		TTGGCCTTCTCTGCCAGGTTT	0.378																																						uc010hri.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|pancreas(1)|prostate(1)|skin(1)	4						c.(2239-2241)GAG>AAG		poly (ADP-ribose) polymerase family, member 9							99.0	98.0	98.0					3																	122247537		2203	4300	6503	SO:0001583	missense	83666				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr3:122247537C>T	AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"""Poly (ADP-ribose) polymerases"""	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.2239G>A	3.37:g.122247537C>T	ENSP00000353512:p.Glu747Lys					PARP9_uc003eff.3_Missense_Mutation_p.E712K|PARP9_uc011bjs.1_Missense_Mutation_p.E712K|PARP9_uc003efg.2_Missense_Mutation_p.E292K|PARP9_uc003efi.2_Missense_Mutation_p.E712K|PARP9_uc003efh.2_Missense_Mutation_p.E747K	p.E747K	NM_001146102	NP_001139574	Q8IXQ6	PARP9_HUMAN		GBM - Glioblastoma multiforme(114;0.0519)	11	2384	-			747			PARP catalytic.		A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Missense_Mutation	SNP	ENST00000360356.2	37	c.2239G>A	CCDS3014.1	.	.	.	.	.	.	.	.	.	.	C	9.426	1.084193	0.20309	.	.	ENSG00000138496	ENST00000360356;ENST00000492382;ENST00000477522;ENST00000471785;ENST00000452457	T;T;T;T	0.08984	3.32;3.03;3.18;3.18	4.68	0.44	0.16572	Poly(ADP-ribose) polymerase, catalytic domain (1);	0.776971	0.11616	N	0.546263	T	0.03651	0.0104	N	0.11064	0.09	0.09310	N	0.999999	B;B;B	0.26318	0.146;0.053;0.053	B;B;B	0.19148	0.024;0.022;0.022	T	0.45614	-0.9249	10	0.07990	T	0.79	.	9.525	0.39158	0.1597:0.576:0.2643:0.0	.	747;292;712	Q8IXQ6;G5E9U8;Q8IXQ6-2	PARP9_HUMAN;.;.	K	747;292;712;712;670	ENSP00000353512:E747K;ENSP00000417664:E292K;ENSP00000419506:E712K;ENSP00000419001:E712K	ENSP00000353512:E747K	E	-	1	0	PARP9	123730227	0.000000	0.05858	0.053000	0.19242	0.927000	0.56198	-0.925000	0.03992	-0.040000	0.13580	0.591000	0.81541	GAG		0.378	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355957.1		NM_031458		42	68	0	0	0	0.010771	0	42	68		
HEG1	57493	broad.mit.edu	37	3	124738228	124738228	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr3:124738228G>C	ENST00000311127.4	-	5	1533	c.1466C>G	c.(1465-1467)tCa>tGa	p.S489*	HEG1_ENST00000477536.1_5'UTR	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	489	Ser-rich.				cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.S489L(1)|p.S489*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						AGTAGAGTCTGAGAACTGGGT	0.463																																						uc003ehs.3		NaN																	2	Substitution - Missense(1)|Substitution - Nonsense(1)		urinary_tract(1)|lung(1)	ovary(2)	2						c.(1465-1467)TCA>TGA		HEG homolog 1 precursor							223.0	211.0	215.0					3																	124738228		2003	4197	6200	SO:0001587	stop_gained	57493					extracellular region|integral to membrane	calcium ion binding	g.chr3:124738228G>C	AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.1466C>G	3.37:g.124738228G>C	ENSP00000311502:p.Ser489*					HEG1_uc011bke.1_Nonsense_Mutation_p.S489*	p.S489*	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN			5	1534	-			489			Extracellular (Potential).|Ser-rich.		Q6NX66|Q8NC40|Q9BSV0	Nonsense_Mutation	SNP	ENST00000311127.4	37	c.1466C>G	CCDS46898.1	.	.	.	.	.	.	.	.	.	.	G	36	5.777581	0.96929	.	.	ENSG00000173706	ENST00000311127	.	.	.	4.92	4.04	0.47022	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.9755	0.35932	0.1:0.0:0.9:0.0	.	.	.	.	X	489	.	ENSP00000311502:S489X	S	-	2	0	HEG1	126220918	0.241000	0.23857	0.002000	0.10522	0.055000	0.15305	3.338000	0.52128	1.289000	0.44618	0.650000	0.86243	TCA		0.463	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2		XM_087386		39	164	0	0	0	0.021022	0	39	164		
EFCC1	79825	broad.mit.edu	37	3	128753034	128753034	+	Silent	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr3:128753034C>T	ENST00000480450.1	+	5	1311	c.1311C>T	c.(1309-1311)ctC>ctT	p.L437L	EFCC1_ENST00000436022.2_5'UTR			Q9HA90	EFCC1_HUMAN	EF-hand and coiled-coil domain containing 1	437							calcium ion binding (GO:0005509)	p.L437L(1)									CGGAGAAGCTCATGACTTACT	0.622																																						uc011bkt.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1309-1311)CTC>CTT		coiled-coil domain containing 48							94.0	89.0	91.0					3																	128753034		2203	4300	6503	SO:0001819	synonymous_variant	79825							g.chr3:128753034C>T	AK022119	CCDS3054.1, CCDS3054.2	3q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000114654	ENSG00000114654		"""EF-hand domain containing"""	25692	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 73"", ""coiled-coil domain containing 48"""	C3orf73, CCDC48			Standard	NM_024768		Approved	FLJ12057	uc011bkt.2	Q9HA90	OTTHUMG00000158996	ENST00000480450.1:c.1311C>T	3.37:g.128753034C>T							p.L437L	NM_024768	NP_079044	Q9HA90	CCD48_HUMAN			5	1311	+			437					A8MYE2	Silent	SNP	ENST00000480450.1	37	c.1311C>T	CCDS3054.2																																																																																				0.622	EFCC1-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352832.1		NM_024768		23	56	0	0	0	0.01892	0	23	56		
COPG1	22820	broad.mit.edu	37	3	128982840	128982840	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr3:128982840G>C	ENST00000314797.6	+	13	1326	c.1222G>C	c.(1222-1224)Gag>Cag	p.E408Q		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	408					COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)	p.E408Q(1)									GCTGCGGGAAGAGGTAAGAGT	0.547																																						uc003els.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|breast(1)	4						c.(1222-1224)GAG>CAG		coatomer protein complex, subunit gamma 1							82.0	67.0	72.0					3																	128982840		2203	4300	6503	SO:0001583	missense	22820				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:128982840G>C	AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"""coat protein gamma-cop"""	615525	"""coatomer protein complex, subunit gamma"""	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.1222G>C	3.37:g.128982840G>C	ENSP00000325002:p.Glu408Gln					COPG_uc010htb.2_Missense_Mutation_p.E314Q	p.E408Q	NM_016128	NP_057212	Q9Y678	COPG_HUMAN			13	1322	+			408					A8K6M8|B3KMF6|Q54AC4	Missense_Mutation	SNP	ENST00000314797.6	37	c.1222G>C	CCDS33851.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.699818	0.68501	.	.	ENSG00000181789	ENST00000314797	T	0.26518	1.73	5.85	5.85	0.93711	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.44808	0.1311	M	0.90019	3.08	0.58432	D	0.999999	B	0.30542	0.284	B	0.35931	0.214	T	0.48019	-0.9071	10	0.54805	T	0.06	-14.5136	17.6515	0.88165	0.0:0.0:1.0:0.0	.	408	Q9Y678	COPG_HUMAN	Q	408	ENSP00000325002:E408Q	ENSP00000325002:E408Q	E	+	1	0	COPG	130465530	1.000000	0.71417	0.989000	0.46669	0.009000	0.06853	9.576000	0.98192	2.767000	0.95098	0.655000	0.94253	GAG		0.547	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355456.1		NM_016128		10	18	0	0	0	0.008291	0	10	18		
HMCES	56941	broad.mit.edu	37	3	129023617	129023617	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr3:129023617G>A	ENST00000383463.4	+	7	1103	c.1014G>A	c.(1012-1014)ctG>ctA	p.L338L	HMCES_ENST00000502878.2_Silent_p.L338L|HMCES_ENST00000417226.2_Silent_p.L296L|HMCES_ENST00000389735.3_Silent_p.L338L	NM_020187.2	NP_064572.2	Q96FZ2	HMCES_HUMAN	5-hydroxymethylcytosine (hmC) binding, ES cell-specific	338							DNA binding (GO:0003677)|peptidase activity (GO:0008233)	p.L338L(1)									AGCAATGGCTGAAGCGGGAGA	0.562																																						uc003elt.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(1012-1014)CTG>CTA		hypothetical protein LOC56941							63.0	56.0	58.0					3																	129023617		2203	4300	6503	SO:0001819	synonymous_variant	56941							g.chr3:129023617G>A	AF201934	CCDS33852.1	3q21.3	2013-08-30	2013-08-30	2013-08-30	ENSG00000183624	ENSG00000183624			24446	protein-coding gene	gene with protein product	"""SOS response associated peptidase domain containing 1"""		"""chromosome 3 open reading frame 37"""	C3orf37		23434322, 23945014	Standard	XM_005247636		Approved	DC12, SRAPD1	uc003elt.3	Q96FZ2	OTTHUMG00000159452	ENST00000383463.4:c.1014G>A	3.37:g.129023617G>A						C3orf37_uc003elu.2_Silent_p.L296L|C3orf37_uc003elv.2_Silent_p.L338L|C3orf37_uc003elw.2_Silent_p.L338L	p.L338L	NM_020187	NP_064572	Q96FZ2	CC037_HUMAN			7	1102	+			338					A6NJR9|Q96G34|Q9NRP3	Silent	SNP	ENST00000383463.4	37	c.1014G>A	CCDS33852.1																																																																																				0.562	HMCES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355470.2		NM_020187		19	18	0	0	0	0.006122	0	19	18		
PPP2R3A	5523	broad.mit.edu	37	3	135721655	135721655	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr3:135721655C>T	ENST00000264977.3	+	2	1932	c.1315C>T	c.(1315-1317)Cat>Tat	p.H439Y	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	439					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)	p.H439Y(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGGACCTAGTCATGAGTTATT	0.348																																						uc003eqv.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1)	7						c.(1315-1317)CAT>TAT		protein phosphatase 2, regulatory subunit B'',							83.0	91.0	88.0					3																	135721655		2185	4289	6474	SO:0001583	missense	5523				protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity	g.chr3:135721655C>T	L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	9307	protein-coding gene	gene with protein product		604944	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"""	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.1315C>T	3.37:g.135721655C>T	ENSP00000264977:p.His439Tyr					PPP2R3A_uc011blz.1_Intron	p.H439Y	NM_002718	NP_002709	Q06190	P2R3A_HUMAN			2	1880	+			439					A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Missense_Mutation	SNP	ENST00000264977.3	37	c.1315C>T	CCDS3087.1	.	.	.	.	.	.	.	.	.	.	C	2.085	-0.409673	0.04799	.	.	ENSG00000073711	ENST00000264977	T	0.05447	3.44	5.82	3.97	0.46021	.	1.173680	0.05754	N	0.603772	T	0.03915	0.0110	N	0.08118	0	0.09310	N	0.999994	B	0.02656	0.0	B	0.01281	0.0	T	0.38520	-0.9657	10	0.24483	T	0.36	.	5.5146	0.16900	0.1595:0.67:0.0:0.1705	.	439	Q06190	P2R3A_HUMAN	Y	439	ENSP00000264977:H439Y	ENSP00000264977:H439Y	H	+	1	0	PPP2R3A	137204345	0.001000	0.12720	0.023000	0.16930	0.637000	0.38172	0.511000	0.22739	1.464000	0.47987	0.655000	0.94253	CAT		0.348	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1		NM_002718		36	63	0	0	0	0.021022	0	36	63		
KIAA0226	9711	broad.mit.edu	37	3	197408132	197408132	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr3:197408132C>T	ENST00000296343.5	-	16	2297	c.2298G>A	c.(2296-2298)tgG>tgA	p.W766*	KIAA0226_ENST00000389665.5_Nonsense_Mutation_p.W791*|KIAA0226_ENST00000273582.5_Nonsense_Mutation_p.W721*	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	766					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)		p.W721*(1)|p.W766*(1)		NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		TGCTGAAGTCCCACTTGCGCA	0.537																																					Esophageal Squamous(3;167 355 3763 15924)	uc003fyc.2		NaN																	2	Substitution - Nonsense(2)		urinary_tract(2)		0						c.(2296-2298)TGG>TGA		hypothetical protein LOC9711 isoform 2.							136.0	134.0	134.0					3																	197408132		2051	4220	6271	SO:0001587	stop_gained	9711				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding	g.chr3:197408132C>T	D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"""RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"""	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.2298G>A	3.37:g.197408132C>T	ENSP00000296343:p.Trp766*					KIAA0226_uc003fyd.3_Nonsense_Mutation_p.W721*|KIAA0226_uc003fye.1_Nonsense_Mutation_p.W498*	p.W766*	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)	16	2481	-	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		766					Q96CK5	Nonsense_Mutation	SNP	ENST00000296343.5	37	c.2298G>A	CCDS43195.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	21.0|21.0|21.0	4.081780|4.081780|4.081780	0.76528|0.76528|0.76528	.|.|.	.|.|.	ENSG00000145016|ENSG00000145016|ENSG00000145016	ENST00000415452|ENST00000413360|ENST00000273582;ENST00000296343;ENST00000389665	.|.|.	.|.|.	.|.|.	4.68|4.68|4.68	4.68|4.68|4.68	0.58851|0.58851|0.58851	.|.|.	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	T|T|.	0.43656|0.43656|.	0.1257|0.1257|.	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|.	0.37979|0.37979|.	-0.9682|-0.9682|.	3|3|.	.|.|0.02654	.|.|T	.|.|1	.|.|.	17.1407|17.1407|17.1407	0.86752|0.86752|0.86752	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|.|.	.|.|.	.|.|.	E|R|X	550|728|721;766;791	.|.|.	.|.|ENSP00000273582:W721X	G|G|W	-|-|-	2|1|3	0|0|0	KIAA0226|KIAA0226|KIAA0226	198892529|198892529|198892529	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.089000|0.089000|0.089000	0.18198|0.18198|0.18198	7.604000|7.604000|7.604000	0.82830|0.82830|0.82830	2.592000|2.592000|2.592000	0.87571|0.87571|0.87571	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GGG|GGA|TGG		0.537	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1		XM_032901		5	134	0	0	0	0.021553	0	5	134		
FGFR3	2261	broad.mit.edu	37	4	1806119	1806119	+	Missense_Mutation	SNP	G	G	A	rs28931614		TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq;WGS			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr4:1806119G>A	ENST00000260795.2	+	8	1240	c.1138G>A	c.(1138-1140)Ggg>Agg	p.G380R	FGFR3_ENST00000481110.2_Missense_Mutation_p.G380R|FGFR3_ENST00000440486.2_Missense_Mutation_p.G380R|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000340107.4_Missense_Mutation_p.G382R|FGFR3_ENST00000352904.1_Intron			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	380			G -> R (in keratinocytic non- epidermolytic nevus and ACH; very common mutation; constitutively activated kinase with impaired internalization and degradation, resulting in prolonged FGFR3 signaling; dbSNP:rs28931614). {ECO:0000269|PubMed:16841094, ECO:0000269|PubMed:7847369, ECO:0000269|PubMed:8078586}.		alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)	p.G380R(13)|p.G382R(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	CCTCAGCTACGGGGTGGGCTT	0.672		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome																													uc003gdr.3		1		Dom	yes		4	4p16.3	2261	Mis|T	fibroblast growth factor receptor 3	yes	Hypochondroplasia|Thanatophoric dysplasia	"""L, E"""	IGH@|ETV6		bladder|MM|T-cell lymphoma		14	Substitution - Missense(14)	p.G380R(15)|p.G380E(1)	urinary_tract(13)|skin(1)	urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600	GRCh37	CM940785|CM940786|CX090489	FGFR3	M|X	rs28931614	c.(1138-1140)GGG>AGG		fibroblast growth factor receptor 3 isoform 1	Palifermin(DB00039)						160.0	153.0	156.0					4																	1806119		2203	4300	6503	SO:0001583	missense	2261	Muenke_syndrome|Saethre-Chotzen_syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	g.chr4:1806119G>A	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3690	protein-coding gene	gene with protein product		134934	"""achondroplasia, thanatophoric dwarfism"""	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.1138G>A	4.37:g.1806119G>A	ENSP00000260795:p.Gly380Arg					FGFR3_uc003gdu.2_Missense_Mutation_p.G382R|FGFR3_uc003gds.3_Intron|FGFR3_uc003gdq.3_Missense_Mutation_p.G380R	p.G380R	NM_000142	NP_000133	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		9	1394	+		Breast(71;0.212)|all_epithelial(65;0.241)	380			Helical; (Potential).		D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP	ENST00000260795.2	37	c.1138G>A	CCDS3353.1	.	.	.	.	.	.	.	.	.	.	g	19.38	3.816739	0.70912	.	.	ENSG00000068078	ENST00000481110;ENST00000340107;ENST00000440486;ENST00000260795	D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98	4.68	3.82	0.43975	.	0.059512	0.64402	D	0.000003	D	0.88224	0.6379	L	0.54323	1.7	0.80722	D	1	D;P;D	0.67145	0.959;0.94;0.996	P;B;P	0.57371	0.637;0.255;0.819	D	0.88921	0.3366	10	0.62326	D	0.03	.	14.9577	0.71131	0.0:0.144:0.856:0.0	rs28931614	382;380;380	P22607-2;P22607;F8W9L4	.;FGFR3_HUMAN;.	R	380;382;380;380	ENSP00000420533:G380R;ENSP00000339824:G382R;ENSP00000414914:G380R;ENSP00000260795:G380R	ENSP00000260795:G380R	G	+	1	0	FGFR3	1775917	0.998000	0.40836	1.000000	0.80357	0.886000	0.51366	3.516000	0.53436	1.066000	0.40716	0.462000	0.41574	GGG		0.672	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2		NM_000142		156	222	0	0	0	0.01441	0	156	222		
WHSC1	7468	broad.mit.edu	37	4	1957529	1957529	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr4:1957529G>A	ENST00000382895.3	+	16	3059	c.2628G>A	c.(2626-2628)aaG>aaA	p.K876K	WHSC1_ENST00000382892.2_Silent_p.K876K|WHSC1_ENST00000382888.3_Silent_p.K224K|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382891.5_Silent_p.K876K|WHSC1_ENST00000508803.1_Silent_p.K876K	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	876					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.K876K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GGGCTGGGAAGAAGCTGCACT	0.507			T	IGH@	MM																																	uc003gdz.3		NaN		Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)|lung(3)|skin(2)|pancreas(1)	9						c.(2626-2628)AAG>AAA		Wolf-Hirschhorn syndrome candidate 1 protein							58.0	54.0	55.0					4																	1957529		2203	4300	6503	SO:0001819	synonymous_variant	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1957529G>A	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.2628G>A	4.37:g.1957529G>A						WHSC1_uc003geb.3_Silent_p.K876K|WHSC1_uc003gec.3_Silent_p.K876K|WHSC1_uc003ged.3_Silent_p.K876K|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Silent_p.K95K|WHSC1_uc011bvh.1_5'UTR|WHSC1_uc010icf.2_Silent_p.K224K	p.K876K	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	14	2804	+		all_epithelial(65;1.34e-05)	876					A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Silent	SNP	ENST00000382895.3	37	c.2628G>A	CCDS33940.1	.	.	.	.	.	.	.	.	.	.	G	9.346	1.064281	0.20067	.	.	ENSG00000109685	ENST00000514329	.	.	.	5.87	4.92	0.64577	.	.	.	.	.	T	0.65123	0.2661	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62086	-0.6928	4	.	.	.	.	13.4759	0.61308	0.1019:0.0:0.8981:0.0	.	.	.	.	K	200	.	.	E	+	1	0	WHSC1	1927327	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.566000	0.67372	2.779000	0.95612	0.655000	0.94253	GAA		0.507	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2		NM_133330		17	34	0	0	0	0.028581	0	17	34		
ZBTB49	166793	broad.mit.edu	37	4	4317400	4317400	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr4:4317400A>T	ENST00000337872.4	+	6	1535	c.1414A>T	c.(1414-1416)Att>Ttt	p.I472F	ZBTB49_ENST00000355834.3_Intron|ZBTB49_ENST00000538529.1_5'UTR	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	472					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I472F(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						TCACATTATTATTCACTCAGG	0.393																																						uc003ghu.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(1414-1416)ATT>TTT		zinc finger protein 509							96.0	98.0	97.0					4																	4317400		2203	4300	6503	SO:0001583	missense	166793				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:4317400A>T	AK095878	CCDS3375.1	4p16.2	2013-01-08	2010-01-26	2010-01-26	ENSG00000168826	ENSG00000168826		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	19883	protein-coding gene	gene with protein product			"""zinc finger protein 509"""	ZNF509		12477932	Standard	NM_145291		Approved	FLJ38559	uc003ghu.3	Q6ZSB9	OTTHUMG00000090325	ENST00000337872.4:c.1414A>T	4.37:g.4317400A>T	ENSP00000338807:p.Ile472Phe					ZBTB49_uc003ghv.2_5'UTR|ZBTB49_uc010icy.2_RNA|ZBTB49_uc010icz.2_Intron	p.I472F	NM_145291	NP_660334	Q6ZSB9	ZBT49_HUMAN			6	1589	+			472			C2H2-type 3.		Q59FJ4|Q5EBN0|Q8TB80	Missense_Mutation	SNP	ENST00000337872.4	37	c.1414A>T	CCDS3375.1	.	.	.	.	.	.	.	.	.	.	A	15.91	2.973370	0.53614	.	.	ENSG00000168826	ENST00000337872	T	0.08807	3.05	5.45	5.45	0.79879	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000020	T	0.23846	0.0577	M	0.74467	2.265	0.80722	D	1	P	0.47962	0.903	P	0.54174	0.744	T	0.00599	-1.1651	10	0.87932	D	0	.	15.5161	0.75826	1.0:0.0:0.0:0.0	.	472	Q6ZSB9	ZBT49_HUMAN	F	472	ENSP00000338807:I472F	ENSP00000338807:I472F	I	+	1	0	ZBTB49	4368301	1.000000	0.71417	0.539000	0.28077	0.981000	0.71138	6.437000	0.73421	2.079000	0.62486	0.379000	0.24179	ATT		0.393	ZBTB49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206688.3		NM_145291		21	29	0	0	0	0.016522	0	21	29		
BST1	683	broad.mit.edu	37	4	15716979	15716979	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr4:15716979C>G	ENST00000265016.4	+	5	801	c.606C>G	c.(604-606)atC>atG	p.I202M	BST1_ENST00000382346.3_Missense_Mutation_p.I217M	NM_004334.2	NP_004325.2	Q10588	BST1_HUMAN	bone marrow stromal cell antigen 1	202					humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|transferase activity (GO:0016740)	p.I202M(1)		central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1)	8						CCTATCCCATCAAAGGGTAAG	0.388																																						uc003goh.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(604-606)ATC>ATG		bone marrow stromal cell antigen 1 precursor							105.0	98.0	101.0					4																	15716979		2203	4300	6503	SO:0001583	missense	683				humoral immune response|multicellular organismal development	anchored to membrane|extrinsic to membrane|plasma membrane	binding|NAD+ nucleosidase activity	g.chr4:15716979C>G	D21878	CCDS3416.1	4p15	2010-05-04			ENSG00000109743	ENSG00000109743	3.2.2.5	"""CD molecules"""	1118	protein-coding gene	gene with protein product	"""NAD(+) nucleosidase"", ""ADP-ribosyl cyclase 2"""	600387				8202488	Standard	NM_004334		Approved	CD157	uc003goh.4	Q10588	OTTHUMG00000097739	ENST00000265016.4:c.606C>G	4.37:g.15716979C>G	ENSP00000265016:p.Ile202Met					BST1_uc003goi.2_Missense_Mutation_p.I13M	p.I202M	NM_004334	NP_004325	Q10588	BST1_HUMAN			5	801	+			202					B2R6A2|Q1XII0|Q5U0K0|Q96EN3	Missense_Mutation	SNP	ENST00000265016.4	37	c.606C>G	CCDS3416.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.44|11.44	1.639752|1.639752	0.29157|0.29157	.|.	.|.	ENSG00000109743|ENSG00000109743	ENST00000265016;ENST00000382346;ENST00000514445|ENST00000505785;ENST00000514989	T;T;T|.	0.13901|.	2.55;2.55;2.55|.	6.16|6.16	-1.13|-1.13	0.09775|0.09775	NAD(P)-binding domain (1);|.	1.454330|.	0.03485|.	N|.	0.215746|.	T|.	0.20901|.	0.0503|.	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	P;P|.	0.41420|.	0.749;0.701|.	B;B|.	0.42851|.	0.4;0.324|.	T|.	0.24835|.	-1.0149|.	10|.	0.48119|.	T|.	0.1|.	-5.163|-5.163	1.1047|1.1047	0.01691|0.01691	0.2809:0.3293:0.2173:0.1726|0.2809:0.3293:0.2173:0.1726	.|.	217;202|.	A6NC48;Q10588|.	.;BST1_HUMAN|.	M|X	202;217;52|98;10	ENSP00000265016:I202M;ENSP00000371783:I217M;ENSP00000420925:I52M|.	ENSP00000265016:I202M|.	I|S	+|+	3|2	3|0	BST1|BST1	15326077|15326077	0.000000|0.000000	0.05858|0.05858	0.348000|0.348000	0.25681|0.25681	0.899000|0.899000	0.52679|0.52679	-1.627000|-1.627000	0.02033|0.02033	-0.003000|-0.003000	0.14444|0.14444	0.650000|0.650000	0.86243|0.86243	ATC|TCA		0.388	BST1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214968.2		NM_004334		10	22	0	0	0	0.010729	0	10	22		
STIM2	57620	broad.mit.edu	37	4	26959236	26959236	+	Silent	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr4:26959236C>T	ENST00000467011.1	+	3	710	c.285C>T	c.(283-285)ttC>ttT	p.F95F	STIM2_ENST00000237364.5_Silent_p.F182F|STIM2_ENST00000467087.1_Silent_p.F95F|STIM2_ENST00000465503.1_Silent_p.F95F|STIM2_ENST00000412829.2_Silent_p.F182F|STIM2_ENST00000382009.3_Silent_p.F182F	NM_001169117.1	NP_001162588	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	95	EF-hand.				activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|positive regulation of calcium ion transport (GO:0051928)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|store-operated calcium channel activity (GO:0015279)	p.F182F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				TTCTATAGTTCATCAGAGAAG	0.308																																						uc003gsh.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(1)|skin(1)	2						c.(544-546)TTC>TTT		stromal interaction molecule 2							74.0	82.0	79.0					4																	26959236		2203	4300	6503	SO:0001819	synonymous_variant	57620				activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding	g.chr4:26959236C>T	AB040915	CCDS3440.1, CCDS3440.2, CCDS54751.1, CCDS54752.1	4p15.2	2013-01-10			ENSG00000109689	ENSG00000109689		"""Sterile alpha motif (SAM) domain containing"""	19205	protein-coding gene	gene with protein product		610841				11463338	Standard	NM_020860		Approved		uc003gsh.4	Q9P246	OTTHUMG00000097805	ENST00000467011.1:c.285C>T	4.37:g.26959236C>T						STIM2_uc003gsg.3_Silent_p.F182F|STIM2_uc010iex.2_Silent_p.F182F	p.F182F	NM_020860	NP_065911	Q9P246	STIM2_HUMAN			3	762	+		Breast(46;0.0503)	95			EF-hand.|Extracellular (Potential).		A6H8L7|B7ZVY0|Q96BF1|Q9BQH2|Q9H8R1	Silent	SNP	ENST00000467011.1	37	c.546C>T	CCDS54752.1																																																																																				0.308	STIM2-003	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000356861.1		NM_020860		18	70	0	0	0	0.00499	0	18	70		
GABRB1	2560	broad.mit.edu	37	4	47322172	47322172	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr4:47322172G>C	ENST00000295454.3	+	5	782	c.490G>C	c.(490-492)Gat>Cat	p.D164H	GABRB1_ENST00000538619.1_Missense_Mutation_p.D94H	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	164					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)	p.D164H(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ATGTATGATGGATCTTCGAAG	0.423																																						uc003gxh.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(490-492)GAT>CAT		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						123.0	109.0	114.0					4																	47322172		2203	4300	6503	SO:0001583	missense	2560				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:47322172G>C		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.490G>C	4.37:g.47322172G>C	ENSP00000295454:p.Asp164His					GABRB1_uc011bze.1_Missense_Mutation_p.D94H	p.D164H	NM_000812	NP_000803	P18505	GBRB1_HUMAN			5	864	+			164			Extracellular (Probable).		B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	ENST00000295454.3	37	c.490G>C	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.578789	0.86645	.	.	ENSG00000163288	ENST00000295454;ENST00000538619	T;T	0.81415	-1.49;-1.49	5.19	5.19	0.71726	Neurotransmitter-gated ion-channel ligand-binding (3);Neurotransmitter-gated ion-channel, conserved site (1);	0.216009	0.37809	N	0.001938	D	0.87192	0.6116	L	0.53617	1.68	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.959;0.999	D	0.86651	0.1898	10	0.48119	T	0.1	-17.0228	16.2533	0.82498	0.0:0.0:1.0:0.0	.	94;164	F5GXV5;P18505	.;GBRB1_HUMAN	H	164;94	ENSP00000295454:D164H;ENSP00000440330:D94H	ENSP00000295454:D164H	D	+	1	0	GABRB1	47016929	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.151000	0.94674	2.697000	0.92050	0.585000	0.79938	GAT		0.423	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1				15	43	0	0	0	0.028581	0	15	43		
NOA1	84273	broad.mit.edu	37	4	57829697	57829697	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr4:57829697C>G	ENST00000264230.4	-	7	3253	c.2016G>C	c.(2014-2016)aaG>aaC	p.K672N	RP11-738E22.3_ENST00000602820.1_lincRNA	NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	672					apoptotic process (GO:0006915)|GTP catabolic process (GO:0006184)|mitochondrial translation (GO:0032543)|regulation of cell death (GO:0010941)|regulation of cellular respiration (GO:0043457)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.K672N(1)									CCACACTTTTCTTGATGCGCT	0.458																																						uc003hck.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|breast(1)	2						c.(2014-2016)AAG>AAC		hypothetical protein LOC84273							176.0	178.0	178.0					4																	57829697		2203	4300	6503	SO:0001583	missense	84273						GTP binding	g.chr4:57829697C>G	AK098215	CCDS3510.1	4q12	2013-05-24	2011-10-19	2011-10-19	ENSG00000084092	ENSG00000084092			28473	protein-coding gene	gene with protein product	"""nitric oxide synthase, mitochondrial (putative)"", ""mitochondrial GTPase 3 homolog (S. cerevisiae)"""	614919	"""chromosome 4 open reading frame 14"""	C4orf14		16380119, 2118999, 21771794, 22447445	Standard	NM_032313		Approved	MGC3232, hAtNOS1, hNOA1, MTG3	uc003hck.3	Q8NC60	OTTHUMG00000128773	ENST00000264230.4:c.2016G>C	4.37:g.57829697C>G	ENSP00000264230:p.Lys672Asn						p.K672N	NM_032313	NP_115689	Q8NC60	CD014_HUMAN			7	2091	-	Glioma(25;0.08)|all_neural(26;0.181)		672					Q8N7L6|Q9BSQ9	Missense_Mutation	SNP	ENST00000264230.4	37	c.2016G>C	CCDS3510.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.367189	0.41902	.	.	ENSG00000084092	ENST00000264230	T	0.32753	1.44	5.41	4.56	0.56223	.	0.366969	0.28187	N	0.016273	T	0.28532	0.0706	M	0.72118	2.19	0.09310	N	1	P	0.38922	0.651	B	0.32805	0.153	T	0.38067	-0.9678	10	0.62326	D	0.03	.	7.4536	0.27252	0.0:0.7136:0.0:0.2864	.	672	Q8NC60	CD014_HUMAN	N	672	ENSP00000264230:K672N	ENSP00000264230:K672N	K	-	3	2	C4orf14	57524454	0.262000	0.24073	0.090000	0.20809	0.928000	0.56348	0.193000	0.17116	1.379000	0.46325	0.655000	0.94253	AAG		0.458	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250694.2		NM_032313		68	121	0	0	0	0.01441	0	68	121		
EPHA5	2044	broad.mit.edu	37	4	66230766	66230766	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr4:66230766G>A	ENST00000273854.3	-	12	2805	c.2205C>T	c.(2203-2205)aaC>aaT	p.N735N	EPHA5_ENST00000432638.2_Silent_p.N572N|EPHA5_ENST00000511294.1_Silent_p.N736N|EPHA5_ENST00000354839.4_Silent_p.N713N	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	735	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)	p.N735N(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						AATGGATGATGTTAGGATGAT	0.363										TSP Lung(17;0.13)																												uc003hcy.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						c.(2203-2205)AAC>AAT		ephrin receptor EphA5 isoform a precursor							214.0	203.0	207.0					4																	66230766		2203	4300	6503	SO:0001819	synonymous_variant	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66230766G>A	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2205C>T	4.37:g.66230766G>A		TSP Lung(17;0.13)				EPHA5_uc003hcx.2_Silent_p.N667N|EPHA5_uc003hcz.2_Silent_p.N713N|EPHA5_uc011cah.1_Silent_p.N736N|EPHA5_uc011cai.1_Silent_p.N714N|EPHA5_uc003hda.2_Silent_p.N736N	p.N735N	NM_004439	NP_004430	P54756	EPHA5_HUMAN			12	2398	-			735			Cytoplasmic (Potential).|Protein kinase.		Q7Z3F2	Silent	SNP	ENST00000273854.3	37	c.2205C>T	CCDS3513.1																																																																																				0.363	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2		NM_004439		49	69	0	0	0	0.01441	0	49	69		
TMPRSS11F	389208	broad.mit.edu	37	4	68930646	68930646	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr4:68930646G>C	ENST00000356291.2	-	8	831	c.772C>G	c.(772-774)Caa>Gaa	p.Q258E	RP11-35D5.1_ENST00000600441.1_RNA|UBA6-AS1_ENST00000511571.1_RNA|UBA6-AS1_ENST00000499180.2_RNA|UBA6-AS1_ENST00000500538.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	258	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.Q258E(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						GCAATCCATTGAGTTGGGTCT	0.338																																						uc003hdt.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(772-774)CAA>GAA		transmembrane protease, serine 11F							71.0	68.0	69.0					4																	68930646		2203	4300	6503	SO:0001583	missense	389208				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68930646G>C	AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"""Serine peptidases / Transmembrane"""	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.772C>G	4.37:g.68930646G>C	ENSP00000348639:p.Gln258Glu					LOC550112_uc003hdl.3_Intron|uc011cak.1_Intron|SYT14L_uc010ihn.2_5'Flank	p.Q258E	NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN			8	821	-			258			Peptidase S1.|Extracellular (Potential).		A8MXX2	Missense_Mutation	SNP	ENST00000356291.2	37	c.772C>G	CCDS3520.1	.	.	.	.	.	.	.	.	.	.	G	9.237	1.037403	0.19669	.	.	ENSG00000198092	ENST00000356291	D	0.88431	-2.38	5.71	1.76	0.24704	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.502489	0.18638	N	0.135400	T	0.74673	0.3747	N	0.17345	0.48	0.21020	N	0.999805	B	0.09022	0.002	B	0.12837	0.008	T	0.56312	-0.8000	10	0.02654	T	1	.	8.8844	0.35394	0.0:0.135:0.4232:0.4419	.	258	Q6ZWK6	TM11F_HUMAN	E	258	ENSP00000348639:Q258E	ENSP00000348639:Q258E	Q	-	1	0	TMPRSS11F	68613241	0.000000	0.05858	0.959000	0.39883	0.954000	0.61252	-0.013000	0.12678	0.304000	0.22809	-0.169000	0.13324	CAA		0.338	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251439.1		NM_207407		17	28	0	0	0	0.028581	0	17	28		
C4orf17	84103	broad.mit.edu	37	4	100463168	100463168	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr4:100463168C>G	ENST00000326581.4	+	9	1344	c.982C>G	c.(982-984)Cag>Gag	p.Q328E		NM_032149.2	NP_115525.2	Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	328								p.Q328E(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		GCCTAACACTCAGGAGAGTGG	0.433																																						uc003huw.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(982-984)CAG>GAG		hypothetical protein LOC84103							80.0	78.0	79.0					4																	100463168		2203	4300	6503	SO:0001583	missense	84103							g.chr4:100463168C>G	AL136838	CCDS3649.1	4q23	2008-02-05			ENSG00000138813	ENSG00000138813			25274	protein-coding gene	gene with protein product						11230166	Standard	NM_032149		Approved	DKFZP434G072	uc003huw.3	Q53FE4	OTTHUMG00000131027	ENST00000326581.4:c.982C>G	4.37:g.100463168C>G	ENSP00000322582:p.Gln328Glu					C4orf17_uc003hux.2_RNA	p.Q328E	NM_032149	NP_115525	Q53FE4	CD017_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)	9	1305	+			328					Q6FI84|Q6IS77|Q8NA78|Q9H0D9	Missense_Mutation	SNP	ENST00000326581.4	37	c.982C>G	CCDS3649.1	.	.	.	.	.	.	.	.	.	.	C	7.101	0.574152	0.13623	.	.	ENSG00000138813	ENST00000326581	T	0.17528	2.27	5.42	2.54	0.30619	.	0.539214	0.17116	N	0.186425	T	0.25306	0.0615	L	0.54323	1.7	0.58432	D	0.999998	D	0.65815	0.995	P	0.59115	0.852	T	0.03840	-1.0999	10	0.37606	T	0.19	-1.5068	4.5159	0.11935	0.0:0.6141:0.1851:0.2008	.	328	Q53FE4	CD017_HUMAN	E	328	ENSP00000322582:Q328E	ENSP00000322582:Q328E	Q	+	1	0	C4orf17	100682191	0.930000	0.31532	0.964000	0.40570	0.091000	0.18340	0.607000	0.24209	0.838000	0.34948	0.650000	0.86243	CAG		0.433	C4orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253670.2		NM_032149		14	50	0	0	0	0.020292	0	14	50		
SLC39A8	64116	broad.mit.edu	37	4	103228665	103228665	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr4:103228665C>A	ENST00000394833.2	-	3	956	c.480G>T	c.(478-480)aaG>aaT	p.K160N	SLC39A8_ENST00000356736.4_Missense_Mutation_p.K160N|SLC39A8_ENST00000424970.2_Missense_Mutation_p.K160N|SLC39A8_ENST00000510255.1_5'UTR	NM_001135148.1|NM_022154.5	NP_001128620.1|NP_071437.3	Q9C0K1	S39A8_HUMAN	solute carrier family 39 (zinc transporter), member 8	160					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|organelle membrane (GO:0031090)|plasma membrane (GO:0005886)	metal ion transmembrane transporter activity (GO:0046873)	p.K160N(1)		large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		AGGTCAAAATCTTTGGGAAAT	0.388																																						uc003hwb.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(478-480)AAG>AAT		solute carrier family 39 (zinc transporter),							117.0	131.0	127.0					4																	103228665		2203	4300	6503	SO:0001583	missense	64116					integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity	g.chr4:103228665C>A		CCDS3656.1, CCDS47117.1	4q22-q24	2013-05-22			ENSG00000138821	ENSG00000138821		"""Solute carriers"""	20862	protein-coding gene	gene with protein product		608732	"""solute carrier family 39 (metal ion transporter), member 8"""			12504855, 12659941	Standard	NM_001135146		Approved	BIGM103	uc003hwc.2	Q9C0K1	OTTHUMG00000131120	ENST00000394833.2:c.480G>T	4.37:g.103228665C>A	ENSP00000378310:p.Lys160Asn					SLC39A8_uc011ceo.1_Missense_Mutation_p.K160N|SLC39A8_uc003hwa.1_Missense_Mutation_p.K93N|SLC39A8_uc003hwc.2_Missense_Mutation_p.K160N	p.K160N	NM_022154	NP_071437	Q9C0K1	S39A8_HUMAN		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)	3	1009	-		Hepatocellular(203;0.217)	160			Extracellular (Potential).		B4E2H3|Q96SM9|Q9BVC0|Q9NSA4	Missense_Mutation	SNP	ENST00000394833.2	37	c.480G>T	CCDS3656.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.358121	0.61403	.	.	ENSG00000138821	ENST00000424970;ENST00000356736;ENST00000394833	T;T;T	0.48522	0.81;0.81;0.81	5.54	3.81	0.43845	.	0.000000	0.85682	D	0.000000	T	0.55242	0.1908	L	0.47716	1.5	0.53688	D	0.999973	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.72982	0.972;0.978;0.979	T	0.48603	-0.9021	10	0.24483	T	0.36	-4.5405	8.4268	0.32733	0.0:0.7644:0.0:0.2356	.	160;160;93	B4E2H3;Q9C0K1;Q9C0K1-2	.;S39A8_HUMAN;.	N	160	ENSP00000394548:K160N;ENSP00000349174:K160N;ENSP00000378310:K160N	ENSP00000349174:K160N	K	-	3	2	SLC39A8	103447688	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.661000	0.25023	0.709000	0.31976	0.655000	0.94253	AAG		0.388	SLC39A8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253798.1		NM_022154		72	125	1	0	2.05175e-36	0.01441	2.28169e-36	72	125		
KIAA1109	84162	broad.mit.edu	37	4	123192861	123192861	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr4:123192861G>A	ENST00000264501.4	+	47	8555	c.8182G>A	c.(8182-8184)Gaa>Aaa	p.E2728K	KIAA1109_ENST00000455637.1_Missense_Mutation_p.E2728K|KIAA1109_ENST00000388738.3_Missense_Mutation_p.E2728K			Q2LD37	K1109_HUMAN	KIAA1109	2728					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.E2728K(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AAAGTCTTCAGAAACATTTGG	0.338																																						uc003ieh.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(8182-8184)GAA>AAA		fragile site-associated protein							37.0	35.0	35.0					4																	123192861		1824	4071	5895	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123192861G>A	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.8182G>A	4.37:g.123192861G>A	ENSP00000264501:p.Glu2728Lys					KIAA1109_uc003iel.1_Missense_Mutation_p.E663K|KIAA1109_uc003iek.2_Missense_Mutation_p.E1347K	p.E2728K	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			45	8227	+			2728					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.8182G>A	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.52|14.52	2.560247|2.560247	0.45590|0.45590	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637|ENST00000419325	T;T;T|.	0.23754|.	2.49;2.49;1.89|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.235334|.	0.36338|.	N|.	0.002660|.	T|T	0.56156|0.56156	0.1966|0.1966	N|N	0.22421|0.22421	0.69|0.69	0.48185|0.48185	D|D	0.999603|0.999603	P;P;P|.	0.40731|.	0.59;0.728;0.608|.	B;B;B|.	0.36092|.	0.111;0.217;0.076|.	T|T	0.49995|0.49995	-0.8879|-0.8879	10|5	0.45353|.	T|.	0.12|.	.|.	19.4732|19.4732	0.94971|0.94971	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2728;2727;2728|.	Q2LD37-6;Q2LD37-2;Q2LD37|.	.;.;K1109_HUMAN|.	K|K	2728|685	ENSP00000264501:E2728K;ENSP00000373390:E2728K;ENSP00000389925:E2728K|.	ENSP00000264501:E2728K|.	E|R	+|+	1|2	0|0	KIAA1109|KIAA1109	123412311|123412311	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.579000|8.579000	0.90781|0.90781	2.622000|2.622000	0.88805|0.88805	0.591000|0.591000	0.81541|0.81541	GAA|AGA		0.338	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1		NM_020797		11	36	0	0	0	0.008291	0	11	36		
NR3C2	4306	broad.mit.edu	37	4	149357276	149357276	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr4:149357276G>C	ENST00000358102.3	-	2	1099	c.737C>G	c.(736-738)tCc>tGc	p.S246C	NR3C2_ENST00000355292.3_Missense_Mutation_p.S246C|NR3C2_ENST00000344721.4_Missense_Mutation_p.S246C|NR3C2_ENST00000512865.1_Missense_Mutation_p.S246C|NR3C2_ENST00000511528.1_Missense_Mutation_p.S246C	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	246	Modulating.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.S246C(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	GTGCGACCTGGAGCCTCGATT	0.537																																					Melanoma(27;428 957 40335 51025 51111)	uc003ilj.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(1)	1						c.(736-738)TCC>TGC		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						81.0	82.0	82.0					4																	149357276		2203	4300	6503	SO:0001583	missense	4306				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149357276G>C	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.737C>G	4.37:g.149357276G>C	ENSP00000350815:p.Ser246Cys					NR3C2_uc003ilk.3_Missense_Mutation_p.S246C|NR3C2_uc010iph.2_RNA	p.S246C	NM_000901	NP_000892	P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	2	1071	-	all_hematologic(180;0.151)		246			Modulating.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	ENST00000358102.3	37	c.737C>G	CCDS3772.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.814534	0.32053	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000544252;ENST00000342437;ENST00000511528	D;D;D;D;D;D	0.92858	-3.11;-3.12;-3.11;-2.75;-2.7;-3.12	4.86	4.0	0.46444	.	0.056007	0.64402	D	0.000001	D	0.92293	0.7555	L	0.32530	0.975	0.50039	D	0.99984	D;D	0.71674	0.992;0.998	P;D	0.63192	0.707;0.912	D	0.91024	0.4859	9	.	.	.	.	14.6761	0.68981	0.0:0.0:0.8533:0.1467	.	246;246	B0ZBF5;B0ZBF6	.;.	C	246	ENSP00000341390:S246C;ENSP00000347441:S246C;ENSP00000350815:S246C;ENSP00000423510:S246C;ENSP00000343907:S246C;ENSP00000421481:S246C	.	S	-	2	0	NR3C2	149576726	1.000000	0.71417	0.966000	0.40874	0.989000	0.77384	9.420000	0.97426	1.141000	0.42275	0.591000	0.81541	TCC		0.537	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1				24	45	0	0	0	0.021523	0	24	45		
FAM198B	51313	broad.mit.edu	37	4	159092463	159092463	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr4:159092463C>G	ENST00000296530.8	-	2	686	c.65G>C	c.(64-66)cGg>cCg	p.R22P	RP11-597D13.9_ENST00000509463.1_RNA|FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000592057.1_Missense_Mutation_p.R22P|RP11-597D13.9_ENST00000505532.1_RNA|RP11-597D13.9_ENST00000514381.1_RNA|FAM198B_ENST00000393807.5_Missense_Mutation_p.R22P|FAM198B_ENST00000585682.1_Missense_Mutation_p.R22P|RP11-597D13.9_ENST00000503611.1_RNA	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	22						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.R22P(3)|p.R22L(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						CTTACGCACCCGCGGGACGCA	0.587																																						uc003ipp.3		NaN																	5	Substitution - Missense(5)		urinary_tract(3)|skin(2)		0						c.(64-66)CGG>CCG		hypothetical protein LOC51313 isoform 2																																				SO:0001583	missense	51313					Golgi membrane|integral to membrane		g.chr4:159092463C>G		CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125			25312	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 18"""	C4orf18		12975309	Standard	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.65G>C	4.37:g.159092463C>G	ENSP00000296530:p.Arg22Pro					uc003ipu.1_5'Flank|FAM198B_uc003ipq.3_Missense_Mutation_p.R22P|FAM198B_uc003ipr.3_Missense_Mutation_p.R22P|FAM198B_uc003ips.2_Missense_Mutation_p.R22P|uc003ipt.1_RNA	p.R22P	NM_016613	NP_057697	Q6UWH4	F198B_HUMAN			2	517	-			22			Cytoplasmic (Potential).		Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	Missense_Mutation	SNP	ENST00000296530.8	37	c.65G>C	CCDS3798.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.879597	0.33162	.	.	ENSG00000164125	ENST00000337222;ENST00000296530;ENST00000393807;ENST00000417442	T;T	0.32272	1.47;1.46	5.31	5.31	0.75309	.	0.462866	0.22223	N	0.062921	T	0.52565	0.1742	L	0.54323	1.7	0.21782	N	0.999543	D;B;B	0.76494	0.999;0.003;0.003	D;B;B	0.72982	0.979;0.013;0.008	T	0.42344	-0.9457	10	0.48119	T	0.1	0.2039	19.1738	0.93594	0.0:1.0:0.0:0.0	.	22;22;22	Q6UWH4-3;Q6UWH4-2;Q6UWH4	.;.;F198B_HUMAN	P	22	ENSP00000296530:R22P;ENSP00000377396:R22P	ENSP00000296530:R22P	R	-	2	0	FAM198B	159311913	0.005000	0.15991	0.089000	0.20774	0.784000	0.44337	1.677000	0.37576	2.764000	0.94973	0.655000	0.94253	CGG		0.587	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365230.1		NM_001031700, NM_016613		14	54	0	0	0	0.024245	0	14	54		
RAPGEF2	9693	broad.mit.edu	37	4	160273906	160273906	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr4:160273906G>A	ENST00000264431.4	+	21	3871	c.3452G>A	c.(3451-3453)cGa>cAa	p.R1151Q		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1151	Ser-rich.				adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)	p.R1139Q(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		ATTTCTTCACGATCCAGTATT	0.433																																						uc003iqg.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(3451-3453)CGA>CAA		Rap guanine nucleotide exchange factor 2							117.0	111.0	113.0					4																	160273906		1917	4119	6036	SO:0001583	missense	9693				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr4:160273906G>A	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.3452G>A	4.37:g.160273906G>A	ENSP00000264431:p.Arg1151Gln						p.R1151Q	NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN		COAD - Colon adenocarcinoma(41;0.0817)	21	3762	+	all_hematologic(180;0.24)		1151			Ser-rich.		D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	c.3452G>A	CCDS43277.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.473867|5.473867	0.96291|0.96291	.|.	.|.	ENSG00000109756|ENSG00000109756	ENST00000510253|ENST00000264431	.|T	.|0.53640	.|0.61	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.65481|0.65481	0.2695|0.2695	L|L	0.52126|0.52126	1.63|1.63	0.58432|0.58432	D|D	0.999999|0.999999	.|D	.|0.89917	.|1.0	.|D	.|0.85130	.|0.997	T|T	0.58891|0.58891	-0.7556|-0.7556	5|10	.|0.35671	.|T	.|0.21	.|.	20.2033|20.2033	0.98269|0.98269	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1151	.|Q9Y4G8	.|RPGF2_HUMAN	N|Q	208|1151	.|ENSP00000264431:R1151Q	.|ENSP00000264431:R1151Q	D|R	+|+	1|2	0|0	RAPGEF2|RAPGEF2	160493356|160493356	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.998000|0.998000	0.95712|0.95712	9.334000|9.334000	0.96470|0.96470	2.779000|2.779000	0.95612|0.95612	0.655000|0.655000	0.94253|0.94253	GAT|CGA		0.433	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2		NM_014247		24	50	0	0	0	0.024334	0	24	50		
HELT	391723	broad.mit.edu	37	4	185941474	185941474	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr4:185941474G>C	ENST00000515777.1	+	4	365	c.277G>C	c.(277-279)Gag>Cag	p.E93Q	HELT_ENST00000338875.4_Missense_Mutation_p.E178Q|HELT_ENST00000505610.1_Missense_Mutation_p.E92Q			A6NFD8	HELT_HUMAN	helt bHLH transcription factor	93	Orange. {ECO:0000255|PROSITE- ProRule:PRU00380}.				central nervous system development (GO:0007417)|GABAergic neuron differentiation in basal ganglia (GO:0021858)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E178Q(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	14		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		TGGCTACCACGAGTGCATGAA	0.577																																						uc011ckq.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(532-534)GAG>CAG		HES/HEY-like transcription factor							92.0	96.0	95.0					4																	185941474		2203	4300	6503	SO:0001583	missense	391723						DNA binding	g.chr4:185941474G>C	BC144567	CCDS75214.1, CCDS75215.1	4q35.1	2014-07-17	2011-09-12		ENSG00000187821	ENSG00000187821		"""Basic helix-loop-helix proteins"""	33783	protein-coding gene	gene with protein product	"""megane bHLH factor"", ""HES-like"""		"""Hey-like transcription factor (zebrafish)"", ""HES/HEY-like transcription factor"""			14764602, 17611227	Standard	XM_005262989		Approved	HESL, HCM1228, Mgn, bHLHb44, MEGANE	uc011ckq.2	A6NFD8	OTTHUMG00000160484	ENST00000515777.1:c.277G>C	4.37:g.185941474G>C	ENSP00000426033:p.Glu93Gln					HELT_uc011cko.1_Missense_Mutation_p.E93Q|HELT_uc003ixa.3_Missense_Mutation_p.E92Q|HELT_uc011ckp.1_Missense_Mutation_p.E36Q	p.E178Q	NM_001029887	NP_001025058	A6NFD8	HELT_HUMAN		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	4	532	+		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	178			Orange.		B2RTS5|B7ZMI7|B7ZMI8	Missense_Mutation	SNP	ENST00000515777.1	37	c.532G>C		.	.	.	.	.	.	.	.	.	.	G	25.5	4.640669	0.87859	.	.	ENSG00000187821	ENST00000505610;ENST00000515777;ENST00000338875	T;T;T	0.54479	0.57;0.57;0.57	4.96	4.11	0.48088	Orange (2);	0.000000	0.85682	D	0.000000	T	0.53270	0.1786	N	0.08118	0	0.54753	D	0.999984	D;D;D	0.89917	1.0;0.998;0.997	D;D;D	0.83275	0.996;0.963;0.937	T	0.61831	-0.6982	10	0.51188	T	0.08	.	15.2342	0.73416	0.0:0.1413:0.8587:0.0	.	178;93;92	A6NFD8;B7ZMI7;A6NFD8-2	HELT_HUMAN;.;.	Q	92;93;178	ENSP00000422140:E92Q;ENSP00000426033:E93Q;ENSP00000343464:E178Q	ENSP00000343464:E178Q	E	+	1	0	HELT	186178468	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.695000	0.98691	1.056000	0.40484	0.561000	0.74099	GAG		0.577	HELT-002	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000360792.1		NM_001300781		26	69	0	0	0	0.027356	0	26	69		
TRIML2	205860	broad.mit.edu	37	4	189026057	189026057	+	Silent	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr4:189026057C>G	ENST00000512729.1	-	2	443	c.69G>C	c.(67-69)tcG>tcC	p.S23S	TRIML2_ENST00000536972.1_Silent_p.S73S|TRIML2_ENST00000326754.3_Silent_p.S23S|TRIML2_ENST00000502707.1_5'Flank	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	23					protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)	p.S23S(1)		central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GTTTCTCCCTCGATGTGTTCA	0.403																																						uc003izl.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(2)	2						c.(67-69)TCG>TCC		tripartite motif family-like 2							196.0	183.0	187.0					4																	189026057		2203	4300	6503	SO:0001819	synonymous_variant	205860						ligase activity	g.chr4:189026057C>G	AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"""SPRY domain containing 6"""						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.69G>C	4.37:g.189026057C>G						TRIML2_uc011cle.1_Silent_p.S73S|TRIML2_uc011clf.1_Silent_p.S73S	p.S23S	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)	2	105	-		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)	23			Potential.		B7Z6J6	Silent	SNP	ENST00000512729.1	37	c.69G>C	CCDS3850.1																																																																																				0.403	TRIML2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359733.1		NM_173553		27	88	0	0	0	0.027356	0	27	88		
AMACR	23600	broad.mit.edu	37	5	34008107	34008107	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr5:34008107G>C	ENST00000335606.6	-	1	106	c.18C>G	c.(16-18)atC>atG	p.I6M	AMACR_ENST00000502637.1_Missense_Mutation_p.I6M|AMACR_ENST00000426255.2_Missense_Mutation_p.I6M|AMACR_ENST00000512079.1_Missense_Mutation_p.I6M|AMACR_ENST00000382085.3_Missense_Mutation_p.I6M|AMACR_ENST00000514195.1_5'UTR|RP11-1084J3.4_ENST00000382079.3_Intron|AMACR_ENST00000382068.3_Missense_Mutation_p.I6M|AMACR_ENST00000382072.2_Missense_Mutation_p.I6M|AMACR_ENST00000441713.2_Missense_Mutation_p.I6M	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	6					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alpha-methylacyl-CoA racemase activity (GO:0008111)|receptor binding (GO:0005102)	p.I6M(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						CCACGACCGAGATGCCCTGCA	0.692																																						uc003jig.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(16-18)ATC>ATG		alpha-methylacyl-CoA racemase isoform 1							22.0	23.0	23.0					5																	34008107		2189	4289	6478	SO:0001583	missense	23600				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity	g.chr5:34008107G>C	AF047020	CCDS3902.1, CCDS3903.1, CCDS54836.1	5p13.2	2012-05-16			ENSG00000242110	ENSG00000242110	5.1.99.4		451	protein-coding gene	gene with protein product		604489				9307041	Standard	NM_014324		Approved	RACE	uc003jij.3	Q9UHK6	OTTHUMG00000090734	ENST00000335606.6:c.18C>G	5.37:g.34008107G>C	ENSP00000334424:p.Ile6Met					AMACR_uc003jih.2_Missense_Mutation_p.I6M|AMACR_uc003jii.2_Missense_Mutation_p.I6M|AMACR_uc003jij.2_Missense_Mutation_p.I6M|AMACR_uc003jil.1_Missense_Mutation_p.I6M|AMACR_uc003jik.1_Missense_Mutation_p.I6M	p.I6M	NM_014324	NP_055139	Q9UHK6	AMACR_HUMAN			1	100	-			6					A5YM47|B8Y916|B8Y918|F8W9N1|O43673|Q3KT79|Q96GH1|Q9Y3Q1	Missense_Mutation	SNP	ENST00000335606.6	37	c.18C>G	CCDS3902.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.432588	0.62844	.	.	ENSG00000242110	ENST00000335606;ENST00000382072;ENST00000382085;ENST00000502637;ENST00000441713	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	4.72	2.89	0.33648	CoA-transferase family III domain (2);	0.541671	0.19547	N	0.111650	T	0.58779	0.2146	M	0.76170	2.325	0.80722	D	1	D;D;D;D;D;D	0.71674	0.957;0.992;0.993;0.988;0.998;0.988	P;D;P;P;D;P	0.72982	0.771;0.943;0.882;0.764;0.979;0.764	T	0.60596	-0.7232	10	0.87932	D	0	-2.4588	7.2655	0.26227	0.0944:0.4179:0.4876:0.0	.	6;6;6;6;6;6	B3KMU8;Q6VRU4;F8W9N1;D6RB81;Q9UHK6-4;Q9UHK6	.;.;.;.;.;AMACR_HUMAN	M	6	ENSP00000334424:I6M;ENSP00000371504:I6M;ENSP00000371517:I6M;ENSP00000424351:I6M;ENSP00000403800:I6M	ENSP00000334424:I6M	I	-	3	3	AMACR	34043864	0.003000	0.15002	0.018000	0.16275	0.008000	0.06430	0.090000	0.15025	1.314000	0.45095	0.591000	0.81541	ATC		0.692	AMACR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207467.1		NM_014324		3	12	0	0	0	0.021553	0	3	12		
WDR70	55100	broad.mit.edu	37	5	37605251	37605251	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr5:37605251C>T	ENST00000265107.4	+	10	1159	c.1003C>T	c.(1003-1005)Ccc>Tcc	p.P335S	WDR70_ENST00000504564.1_Missense_Mutation_p.P335S|WDR70_ENST00000510699.1_3'UTR	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	335							enzyme binding (GO:0019899)	p.P335S(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAAAGTCATTCCCACTACGTG	0.423																																						uc003jkv.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(1003-1005)CCC>TCC		WD repeat domain 70							98.0	86.0	90.0					5																	37605251		2203	4300	6503	SO:0001583	missense	55100							g.chr5:37605251C>T	BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"""WD repeat domain containing"""	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.1003C>T	5.37:g.37605251C>T	ENSP00000265107:p.Pro335Ser					WDR70_uc010iva.1_Missense_Mutation_p.P335S	p.P335S	NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		10	1061	+	all_lung(31;0.000285)		335			WD 4.		Q9H053	Missense_Mutation	SNP	ENST00000265107.4	37	c.1003C>T	CCDS34147.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.290484	0.80914	.	.	ENSG00000082068	ENST00000265107;ENST00000504564	T;D	0.86694	4.97;-2.16	4.8	4.8	0.61643	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.146393	0.46145	U	0.000305	D	0.93380	0.7889	M	0.78456	2.415	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.979	D	0.93897	0.7185	10	0.59425	D	0.04	-9.3773	18.2223	0.89905	0.0:1.0:0.0:0.0	.	335;335	D6RIW8;Q9NW82	.;WDR70_HUMAN	S	335	ENSP00000265107:P335S;ENSP00000425841:P335S	ENSP00000265107:P335S	P	+	1	0	WDR70	37641008	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.445000	0.80570	2.393000	0.81446	0.591000	0.81541	CCC		0.423	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1		NM_018034		8	77	0	0	0	0.00308	0	8	77		
FBXO4	26272	broad.mit.edu	37	5	41929935	41929935	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr5:41929935G>A	ENST00000281623.3	+	3	618	c.562G>A	c.(562-564)Gaa>Aaa	p.E188K	FBXO4_ENST00000509134.1_Missense_Mutation_p.E188K|FBXO4_ENST00000296812.2_Missense_Mutation_p.E188K	NM_012176.2	NP_036308.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	188				E -> Q (in Ref. 1; AAF04468). {ECO:0000305}.	positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|telomere maintenance (GO:0000723)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)	p.E188K(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				AGGTTTGGAAGAATTGAATAC	0.418																																						uc003jmq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	liver(1)	1						c.(562-564)GAA>AAA		F-box only protein 4 isoform 1							292.0	267.0	275.0					5																	41929935		2203	4300	6503	SO:0001583	missense	26272				positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity	g.chr5:41929935G>A	AF129534	CCDS3938.1, CCDS3939.1, CCDS75238.1	5p12	2008-02-05	2004-06-15		ENSG00000151876	ENSG00000151876		"""F-boxes /  ""other"""""	13583	protein-coding gene	gene with protein product		609090	"""F-box only protein 4"""			10531035, 10531037	Standard	NM_033484		Approved	FBX4	uc003jmq.3	Q9UKT5	OTTHUMG00000094799	ENST00000281623.3:c.562G>A	5.37:g.41929935G>A	ENSP00000281623:p.Glu188Lys					FBXO4_uc003jmp.2_Missense_Mutation_p.E188K|FBXO4_uc003jmr.2_Missense_Mutation_p.E188K	p.E188K	NM_012176	NP_036308	Q9UKT5	FBX4_HUMAN			3	618	+		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)	188	E -> Q (in Ref. 1; AAF04468).				Q68CU8|Q86VT8|Q9UK98	Missense_Mutation	SNP	ENST00000281623.3	37	c.562G>A	CCDS3938.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.404837	0.83230	.	.	ENSG00000151876	ENST00000296812;ENST00000281623;ENST00000509134	T;T;T	0.45276	0.9;0.9;0.9	5.76	5.76	0.90799	.	0.105596	0.64402	D	0.000004	T	0.44664	0.1304	L	0.47716	1.5	0.53005	D	0.999965	P;D;P	0.56521	0.844;0.976;0.903	B;P;B	0.47206	0.386;0.541;0.31	T	0.37197	-0.9716	10	0.52906	T	0.07	-19.1101	15.4438	0.75213	0.0:0.1383:0.8617:0.0	.	188;188;188	D6RAJ6;Q9UKT5;Q9UKT5-2	.;FBX4_HUMAN;.	K	188	ENSP00000296812:E188K;ENSP00000281623:E188K;ENSP00000421749:E188K	ENSP00000281623:E188K	E	+	1	0	FBXO4	41965692	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.521000	0.67086	2.720000	0.93068	0.655000	0.94253	GAA		0.418	FBXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211614.1				78	110	0	0	0	0.01441	0	78	110		
HMGCS1	3157	broad.mit.edu	37	5	43295898	43295898	+	Silent	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr5:43295898C>T	ENST00000325110.6	-	6	1067	c.861G>A	c.(859-861)caG>caA	p.Q287Q	HMGCS1_ENST00000433297.2_Silent_p.Q287Q	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	287					brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|lipid metabolic process (GO:0006629)|liver development (GO:0001889)|male gonad development (GO:0008584)|response to acid chemical (GO:0001101)|response to drug (GO:0042493)|response to lipoprotein particle (GO:0055094)|response to low light intensity stimulus (GO:0009645)|response to purine-containing compound (GO:0014074)|response to tellurium ion (GO:0046690)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hydroxymethylglutaryl-CoA synthase activity (GO:0004421)|isomerase activity (GO:0016853)|organic acid binding (GO:0043177)	p.Q287Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						TATCTCTATTCTGGTCATTAA	0.358																																						uc003jnr.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(859-861)CAG>CAA		hydroxymethylglutaryl-CoA synthase 1							87.0	94.0	91.0					5																	43295898		2203	4300	6503	SO:0001819	synonymous_variant	3157				cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity	g.chr5:43295898C>T		CCDS34154.1	5p14-p13	2012-10-02	2010-04-30			ENSG00000112972	2.3.3.10		5007	protein-coding gene	gene with protein product	"""3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) synthase"""	142940	"""3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (soluble)"""	HMGCS			Standard	NM_001098272		Approved		uc003jnq.5	Q01581		ENST00000325110.6:c.861G>A	5.37:g.43295898C>T						HMGCS1_uc003jnp.3_5'Flank|HMGCS1_uc003jnq.3_Silent_p.Q287Q	p.Q287Q	NM_001098272	NP_001091742	Q01581	HMCS1_HUMAN			6	1068	-			287					B2RDL8	Silent	SNP	ENST00000325110.6	37	c.861G>A	CCDS34154.1																																																																																				0.358	HMGCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368022.1				59	72	0	0	0	0.01441	0	59	72		
ANKRD34B	340120	broad.mit.edu	37	5	79855427	79855427	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr5:79855427G>A	ENST00000338682.3	-	5	1084	c.412C>T	c.(412-414)Ctt>Ttt	p.L138F		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	138						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L138F(1)|p.L138I(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		CAAGCACTAAGAAGAACTTTC	0.428																																						uc010jam.2		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|NS(1)	pancreas(1)	1						c.(412-414)CTT>TTT		ankyrin repeat domain 34B							149.0	153.0	151.0					5																	79855427		2203	4300	6503	SO:0001583	missense	340120					cytoplasm|nucleus		g.chr5:79855427G>A		CCDS34194.1	5q14.1	2014-08-12			ENSG00000189127	ENSG00000189127		"""Ankyrin repeat domain containing"""	33736	protein-coding gene	gene with protein product							Standard	NM_001004441		Approved	DP58	uc003kgw.3	A5PLL1	OTTHUMG00000162541	ENST00000338682.3:c.412C>T	5.37:g.79855427G>A	ENSP00000339802:p.Leu138Phe					ANKRD34B_uc003kgw.2_Missense_Mutation_p.L138F|ANKRD34B_uc010jan.2_Missense_Mutation_p.L138F	p.L138F	NM_001004441	NP_001004441	A5PLL1	AN34B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)	4	762	-		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)	138			ANK 4.		B2RPH1|Q68D79	Missense_Mutation	SNP	ENST00000338682.3	37	c.412C>T	CCDS34194.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.806592	0.50421	.	.	ENSG00000189127	ENST00000338682	T	0.38560	1.13	5.82	5.82	0.92795	Ankyrin repeat-containing domain (3);	0.173681	0.37809	U	0.001935	T	0.65069	0.2656	M	0.67397	2.05	0.53005	D	0.999969	D	0.89917	1.0	D	0.80764	0.994	T	0.66040	-0.6022	10	0.87932	D	0	-13.7294	18.6873	0.91570	0.0:0.0:1.0:0.0	.	138	A5PLL1	AN34B_HUMAN	F	138	ENSP00000339802:L138F	ENSP00000339802:L138F	L	-	1	0	ANKRD34B	79891183	0.998000	0.40836	0.486000	0.27416	0.559000	0.35586	2.462000	0.45049	2.745000	0.94114	0.655000	0.94253	CTT		0.428	ANKRD34B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369475.1		NM_001004441		16	174	0	0	0	0.024245	0	16	174		
FAM174A	345757	broad.mit.edu	37	5	99897787	99897787	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr5:99897787G>C	ENST00000312637.4	+	2	690	c.464G>C	c.(463-465)aGa>aCa	p.R155T	FAM174A_ENST00000505792.1_3'UTR	NM_198507.1	NP_940909.1	Q8TBP5	F174A_HUMAN	family with sequence similarity 174, member A	155						integral component of membrane (GO:0016021)		p.R155I(1)|p.R155T(1)		breast(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						AAGACTAGGAGATATGGAGTT	0.294																																						uc003knj.1		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|large_intestine(1)		0						c.(463-465)AGA>ACA		family with sequence similarity 174, member A							135.0	129.0	131.0					5																	99897787		2203	4300	6503	SO:0001583	missense	345757					integral to membrane		g.chr5:99897787G>C	AY359108	CCDS4090.1	5q21.1	2008-06-19	2008-06-19	2008-06-19	ENSG00000174132	ENSG00000174132			24943	protein-coding gene	gene with protein product			"""transmembrane protein 157"""	TMEM157		12975309	Standard	NM_198507		Approved	UNQ1912	uc003knj.1	Q8TBP5	OTTHUMG00000128726	ENST00000312637.4:c.464G>C	5.37:g.99897787G>C	ENSP00000307954:p.Arg155Thr						p.R155T	NM_198507	NP_940909	Q8TBP5	F174A_HUMAN			2	584	+			155			Cytoplasmic (Potential).		A8K0H4	Missense_Mutation	SNP	ENST00000312637.4	37	c.464G>C	CCDS4090.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.279311	0.59758	.	.	ENSG00000174132	ENST00000312637	T	0.51574	0.7	5.21	3.41	0.39046	.	0.099482	0.42964	D	0.000628	T	0.60130	0.2245	M	0.65498	2.005	0.32548	N	0.532816	D	0.76494	0.999	D	0.72338	0.977	T	0.66775	-0.5838	9	.	.	.	-8.3357	6.4999	0.22164	0.2784:0.0:0.7216:0.0	.	155	Q8TBP5	F174A_HUMAN	T	155	ENSP00000307954:R155T	.	R	+	2	0	FAM174A	99925686	1.000000	0.71417	0.634000	0.29324	0.953000	0.61014	2.829000	0.48128	1.200000	0.43188	0.467000	0.42956	AGA		0.294	FAM174A-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000250631.2		NM_198507		12	33	0	0	0	0.010729	0	12	33		
PRR16	51334	broad.mit.edu	37	5	120021694	120021694	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr5:120021694G>A	ENST00000407149.2	+	2	414	c.205G>A	c.(205-207)Gat>Aat	p.D69N	PRR16_ENST00000379551.2_Missense_Mutation_p.D46N|PRR16_ENST00000505123.1_De_novo_Start_OutOfFrame|PRR16_ENST00000446965.1_De_novo_Start_OutOfFrame			Q569H4	LARGN_HUMAN	proline rich 16	69					positive regulation of cell size (GO:0045793)|positive regulation of translation (GO:0045727)			p.D46N(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		ACAGCTGGAGGATGAGATGAC	0.473																																						uc003ksq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(2)|ovary(1)	3						c.(205-207)GAT>AAT		proline rich 16							103.0	94.0	97.0					5																	120021694		2203	4300	6503	SO:0001583	missense	51334							g.chr5:120021694G>A	AF242769	CCDS4127.1, CCDS75290.1	5q23.1	2006-08-22			ENSG00000184838	ENSG00000184838			29654	protein-coding gene	gene with protein product		615931				15971941	Standard	XM_005272010		Approved	DSC54	uc003ksp.3	Q569H4	OTTHUMG00000128903	ENST00000407149.2:c.205G>A	5.37:g.120021694G>A	ENSP00000385118:p.Asp69Asn					PRR16_uc003ksp.2_Missense_Mutation_p.D46N|PRR16_uc003ksr.2_5'UTR	p.D69N	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)	2	368	+		all_cancers(142;0.0464)|Prostate(80;0.00446)	69			Potential.		D3DSZ0|Q8IXY1|Q9NYI5	Missense_Mutation	SNP	ENST00000407149.2	37	c.205G>A		.	.	.	.	.	.	.	.	.	.	G	23.5	4.426485	0.83667	.	.	ENSG00000184838	ENST00000407149;ENST00000379551	T;T	0.44083	0.93;0.93	5.16	5.16	0.70880	.	0.058966	0.64402	D	0.000003	T	0.54854	0.1884	L	0.43152	1.355	0.80722	D	1	D;D	0.63880	0.993;0.993	P;D	0.63033	0.844;0.91	T	0.49103	-0.8974	9	.	.	.	-3.0181	17.7817	0.88526	0.0:0.0:1.0:0.0	.	69;46	Q569H4;Q569H4-3	PRR16_HUMAN;.	N	69;46	ENSP00000385118:D69N;ENSP00000368869:D46N	.	D	+	1	0	PRR16	120049593	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.338000	0.96553	2.568000	0.86640	0.555000	0.69702	GAT		0.473	PRR16-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371059.1		NM_016644		10	46	0	0	0	0.006214	0	10	46		
SLC22A4	6583	broad.mit.edu	37	5	131679478	131679478	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr5:131679478G>C	ENST00000200652.3	+	10	1780	c.1606G>C	c.(1606-1608)Gac>Cac	p.D536H	AC034220.3_ENST00000417795.1_RNA|AC034220.3_ENST00000437091.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	536					body fluid secretion (GO:0007589)|carnitine metabolic process (GO:0009437)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cation transmembrane transport (GO:0098655)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|cation:cation antiporter activity (GO:0015491)|nucleotide binding (GO:0000166)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)|symporter activity (GO:0015293)	p.D536H(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Amiloride(DB00594)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Desipramine(DB01151)|Guanidine(DB00536)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|L-Lysine(DB00123)|Levofloxacin(DB01137)|Mepyramine(DB06691)|Nicotine(DB00184)|Ofloxacin(DB01165)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Spermine(DB00127)|Testosterone(DB00624)|Tiotropium(DB01409)|Verapamil(DB00661)	AAAAACAAGAGACTCAATGGA	0.338																																						uc003kwq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1606-1608)GAC>CAC		solute carrier family 22 member 4	L-Carnitine(DB00583)						65.0	67.0	66.0					5																	131679478		2203	4300	6503	SO:0001583	missense	6583				body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity	g.chr5:131679478G>C	AB007448	CCDS4153.1	5q23.3	2013-07-18	2013-07-18		ENSG00000197208	ENSG00000197208		"""Solute carriers"""	10968	protein-coding gene	gene with protein product		604190	"""solute carrier family 22 (organic cation/ergothioneine transporter), member 4"""			9426230, 15795384	Standard	NM_003059		Approved	OCTN1, MGC34546	uc003kwq.3	Q9H015	OTTHUMG00000059648	ENST00000200652.3:c.1606G>C	5.37:g.131679478G>C	ENSP00000200652:p.Asp536His					uc003kwr.3_Intron	p.D536H	NM_003059	NP_003050	Q9H015	S22A4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		10	1771	+		all_cancers(142;0.0752)|Breast(839;0.198)	536			Cytoplasmic (Potential).		O14546	Missense_Mutation	SNP	ENST00000200652.3	37	c.1606G>C	CCDS4153.1	.	.	.	.	.	.	.	.	.	.	G	9.845	1.192033	0.21954	.	.	ENSG00000197208	ENST00000200652	T	0.73897	-0.79	5.48	-0.468	0.12146	.	0.918015	0.09376	N	0.810698	T	0.53351	0.1791	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40365	-0.9567	10	0.45353	T	0.12	.	0.5468	0.00655	0.3347:0.1727:0.3166:0.176	.	536	Q9H015	S22A4_HUMAN	H	536	ENSP00000200652:D536H	ENSP00000200652:D536H	D	+	1	0	SLC22A4	131707377	0.000000	0.05858	0.002000	0.10522	0.891000	0.51852	0.161000	0.16481	0.007000	0.14760	0.460000	0.39030	GAC		0.338	SLC22A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132661.1		NM_003059		9	41	0	0	0	0.006214	0	9	41		
BRD8	10902	broad.mit.edu	37	5	137506551	137506551	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr5:137506551C>G	ENST00000254900.5	-	6	781	c.410G>C	c.(409-411)aGa>aCa	p.R137T	BRD8_ENST00000402931.1_Missense_Mutation_p.R137T|BRD8_ENST00000455658.2_Missense_Mutation_p.R96T|BRD8_ENST00000411594.2_Missense_Mutation_p.R137T|BRD8_ENST00000230901.5_Missense_Mutation_p.R137T	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	137					cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)	p.R137T(2)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CTCATCCAGTCTGCTGTCCAT	0.403																																						uc003lcf.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)	1						c.(409-411)AGA>ACA		bromodomain containing 8 isoform 2							161.0	154.0	156.0					5																	137506551		2203	4300	6503	SO:0001583	missense	10902				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity	g.chr5:137506551C>G	AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.410G>C	5.37:g.137506551C>G	ENSP00000254900:p.Arg137Thr					BRD8_uc003lcc.1_RNA|BRD8_uc003lcg.2_Missense_Mutation_p.R137T|BRD8_uc003lci.2_Missense_Mutation_p.R137T|BRD8_uc003lch.2_5'UTR|BRD8_uc011cym.1_Missense_Mutation_p.R121T|BRD8_uc010jer.1_Missense_Mutation_p.R106T|BRD8_uc011cyn.1_Missense_Mutation_p.R96T|BRD8_uc010jes.1_Missense_Mutation_p.R4T	p.R137T	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		6	465	-			137			Potential.		O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Missense_Mutation	SNP	ENST00000254900.5	37	c.410G>C	CCDS4198.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.22|17.22	3.335119|3.335119	0.60853|0.60853	.|.	.|.	ENSG00000112983|ENSG00000112983	ENST00000441656|ENST00000254900;ENST00000454473;ENST00000418329;ENST00000230901;ENST00000402931;ENST00000411594;ENST00000455658;ENST00000453824	.|T;T;T;T;T;T;T	.|0.33216	.|1.64;1.42;1.42;1.58;1.51;1.43;1.49	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	.|0.150585	.|0.64402	.|D	.|0.000009	T|T	0.34948|0.34948	0.0915|0.0915	N|N	0.19112|0.19112	0.55|0.55	0.50039|0.50039	D|D	0.999849|0.999849	.|D;D;D;B;B;B;P	.|0.62365	.|0.991;0.985;0.99;0.276;0.397;0.397;0.956	.|P;P;P;B;B;B;B	.|0.59595	.|0.86;0.637;0.713;0.073;0.152;0.152;0.444	T|T	0.05666|0.05666	-1.0871|-1.0871	5|10	.|0.46703	.|T	.|0.11	-11.5916|-11.5916	12.4023|12.4023	0.55420|0.55420	0.0:0.924:0.0:0.076|0.0:0.924:0.0:0.076	.|.	.|96;121;96;137;137;137;137	.|F8W820;B4DN43;B4DEG9;A8K1N6;Q9H0E9-4;Q9H0E9-2;Q9H0E9	.|.;.;.;.;.;.;BRD8_HUMAN	H|T	131|137;132;132;137;137;137;96;25	.|ENSP00000254900:R137T;ENSP00000398067:R132T;ENSP00000398873:R132T;ENSP00000230901:R137T;ENSP00000384845:R137T;ENSP00000394330:R137T;ENSP00000408396:R96T	.|ENSP00000230901:R137T	D|R	-|-	1|2	0|0	BRD8|BRD8	137534450|137534450	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.937000|3.937000	0.56575|0.56575	2.752000|2.752000	0.94435|0.94435	0.655000|0.655000	0.94253|0.94253	GAC|AGA		0.403	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251282.3		NM_006696		55	22	0	0	0	0.01441	0	55	22		
PCDHB2	56133	broad.mit.edu	37	5	140476448	140476448	+	Silent	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr5:140476448C>T	ENST00000194155.4	+	1	2222	c.2074C>T	c.(2074-2076)Ctg>Ttg	p.L692L		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	692					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)	p.L692L(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACCGTCTACCTGGTGGTGGC	0.697																																						uc003lil.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6						c.(2074-2076)CTG>TTG		protocadherin beta 2 precursor							59.0	62.0	61.0					5																	140476448		2096	4134	6230	SO:0001819	synonymous_variant	56133				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140476448C>T	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.2074C>T	5.37:g.140476448C>T						PCDHB2_uc003lim.1_Silent_p.L353L	p.L692L	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2212	+			692			Extracellular (Potential).		Q4KMU1	Silent	SNP	ENST00000194155.4	37	c.2074C>T	CCDS4244.1																																																																																				0.697	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2		NM_018936		10	181	0	0	0	0.024334	0	10	181		
PCDHB3	56132	broad.mit.edu	37	5	140482301	140482301	+	Silent	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr5:140482301C>T	ENST00000231130.2	+	1	2068	c.2068C>T	c.(2068-2070)Ctg>Ttg	p.L690L	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	690					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)	p.L690L(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACCGTCTACCTGGTGGTGGC	0.682																																						uc003lio.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|pancreas(1)	2						c.(2068-2070)CTG>TTG		protocadherin beta 3 precursor							87.0	91.0	90.0					5																	140482301		2189	4269	6458	SO:0001819	synonymous_variant	56132				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140482301C>T	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.2068C>T	5.37:g.140482301C>T						uc003lin.2_5'Flank	p.L690L	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2068	+			690			Extracellular (Potential).		B2R8P2	Silent	SNP	ENST00000231130.2	37	c.2068C>T	CCDS4245.1																																																																																				0.682	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2		NM_018937		7	132	0	0	0	0.007413	0	7	132		
PCDHB16	57717	broad.mit.edu	37	5	140567183	140567183	+	IGR	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr5:140567183C>T	ENST00000361016.2	+	0	4814					NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16						calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCTGTGTGGCCCTAAAGAGC	0.458																																						uc003liw.1		NaN																	0					0						c.(289-291)GGC>GGT		protocadherin beta 9 precursor							36.0	35.0	35.0					5																	140567183		2008	4166	6174	SO:0001628	intergenic_variant	56127				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140567183C>T	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325		5.37:g.140567183C>T							p.G97G	NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	291	+			97			Extracellular (Potential).|Cadherin 1.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	ENST00000361016.2	37	c.291C>T	CCDS4251.1																																																																																				0.458	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1		NM_020957		27	28	0	0	0	0.015359	0	27	28		
PCDHGA4	56111	broad.mit.edu	37	5	140736303	140736303	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr5:140736303G>A	ENST00000571252.1	+	1	1536	c.1536G>A	c.(1534-1536)ggG>ggA	p.G512G	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	512	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAATACAGGGATCCTATATG	0.527																																						uc003ljq.1		NaN																	0					0						c.(1534-1536)GGG>GGA		protocadherin gamma subfamily A, 4 isoform 1							132.0	139.0	137.0					5																	140736303		2107	4262	6369	SO:0001819	synonymous_variant	56111				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140736303G>A	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.1536G>A	5.37:g.140736303G>A						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Silent_p.G512G	p.G512G	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1536	+			512			Extracellular (Potential).|Cadherin 5.		Q9Y5D3	Silent	SNP	ENST00000571252.1	37	c.1536G>A	CCDS58979.1																																																																																				0.527	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1		NM_018917		33	117	0	0	0	0.013726	0	33	117		
PCDHGC3	5098	broad.mit.edu	37	5	140856170	140856170	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr5:140856170G>A	ENST00000308177.3	+	1	591	c.487G>A	c.(487-489)Gat>Aat	p.D163N	PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000398587.2_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	163	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D163N(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACGATCCCGATGTGGGAAG	0.567																																						uc003lkv.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)|skin(1)	2						c.(487-489)GAT>AAT		protocadherin gamma subfamily C, 3 isoform 1							53.0	56.0	55.0					5																	140856170		2203	4300	6503	SO:0001583	missense	5098				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140856170G>A	AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"""Cadherins / Protocadherins : Clustered"""	8716	other	protocadherin	"""cadherin-like 2"", ""protocadherin 2"", ""protocadherin 43"""	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.487G>A	5.37:g.140856170G>A	ENSP00000312070:p.Asp163Asn					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lku.1_Missense_Mutation_p.D163N|PCDHGC3_uc003lkw.1_Intron	p.D163N	NM_002588	NP_002579	Q9UN70	PCDGK_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	602	+			163			Cadherin 2.|Extracellular (Potential).		O60622|Q08192|Q9Y5C4	Missense_Mutation	SNP	ENST00000308177.3	37	c.487G>A	CCDS4261.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.879032	0.91740	.	.	ENSG00000240184	ENST00000308177	T	0.74002	-0.8	5.27	5.27	0.74061	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.93145	0.7817	H	0.99740	4.74	0.43756	D	0.996263	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96057	0.9036	9	0.87932	D	0	.	19.0821	0.93186	0.0:0.0:1.0:0.0	.	163;163	Q9UN70;Q9UN70-2	PCDGK_HUMAN;.	N	163	ENSP00000312070:D163N	ENSP00000312070:D163N	D	+	1	0	PCDHGC3	140836354	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.652000	0.98499	2.722000	0.93159	0.655000	0.94253	GAT		0.567	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2		NM_002588		18	55	0	0	0	0.008871	0	18	55		
SPINK9	643394	broad.mit.edu	37	5	147715197	147715197	+	Silent	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr5:147715197C>G	ENST00000377906.1	+	1	76	c.21C>G	c.(19-21)gtC>gtG	p.V7V	SPINK9_ENST00000511717.2_Intron|RP11-373N22.3_ENST00000501695.3_RNA	NM_001040433.1	NP_001035523.1	Q5DT21	ISK9_HUMAN	serine peptidase inhibitor, Kazal type 9	7					negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.V7V(1)		ovary(1)|urinary_tract(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCCATAGTCCTACTCTTGG	0.483																																						uc003lpe.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(19-21)GTC>GTG		serine peptidase inhibitor, Kazal type 9							236.0	190.0	206.0					5																	147715197		2203	4300	6503	SO:0001819	synonymous_variant	643394					extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr5:147715197C>G	AY396740	CCDS34269.1	5q33.1	2011-08-31				ENSG00000204909		"""Serine peptidase inhibitors, Kazal type"""	32951	protein-coding gene	gene with protein product		613511					Standard	NM_001040433		Approved		uc003lpe.1	Q5DT21		ENST00000377906.1:c.21C>G	5.37:g.147715197C>G						uc003lpb.1_Intron	p.V7V	NM_001040433	NP_001035523	Q5DT21	ISK9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	76	+			7					B2RPN9	Silent	SNP	ENST00000377906.1	37	c.21C>G	CCDS34269.1																																																																																				0.483	SPINK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373382.1		NM_001040433		22	47	0	0	0	0.014323	0	22	47		
CSF1R	1436	broad.mit.edu	37	5	149437110	149437110	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr5:149437110C>T	ENST00000286301.3	-	16	2469	c.2178G>A	c.(2176-2178)atG>atA	p.M726I	CSF1R_ENST00000515239.1_5'Flank	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	726	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)	p.M726I(2)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	AGACAGGCCTCATCTCCACAT	0.552																																						uc003lrl.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1)	54						c.(2176-2178)ATG>ATA		colony stimulating factor 1 receptor precursor	Imatinib(DB00619)|Sunitinib(DB01268)						76.0	73.0	74.0					5																	149437110		2203	4300	6503	SO:0001583	missense	1436				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	g.chr5:149437110C>T	U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2433	protein-coding gene	gene with protein product		164770	"""McDonough feline sarcoma viral (v-fms) oncogene homolog"""	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.2178G>A	5.37:g.149437110C>T	ENSP00000286301:p.Met726Ile					CSF1R_uc011dcd.1_Intron|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Missense_Mutation_p.M726I	p.M726I	NM_005211	NP_005202	P07333	CSF1R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		15	2373	-			726			Protein kinase.|Cytoplasmic (Potential).		B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	ENST00000286301.3	37	c.2178G>A	CCDS4302.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.498582	0.85069	.	.	ENSG00000182578	ENST00000286301	T	0.78126	-1.15	5.0	5.0	0.66597	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.81912	0.4923	L	0.34521	1.04	0.80722	D	1	D	0.63046	0.992	D	0.63113	0.911	D	0.83678	0.0170	10	0.56958	D	0.05	.	18.2984	0.90155	0.0:1.0:0.0:0.0	.	726	P07333	CSF1R_HUMAN	I	726	ENSP00000286301:M726I	ENSP00000286301:M726I	M	-	3	0	CSF1R	149417303	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	5.347000	0.65998	2.322000	0.78497	0.561000	0.74099	ATG		0.552	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2		NM_005211		7	22	0	0	0	0.001984	0	7	22		
NSD1	64324	broad.mit.edu	37	5	176721219	176721219	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq;WGS			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr5:176721219G>C	ENST00000439151.2	+	23	6895	c.6850G>C	c.(6850-6852)Gag>Cag	p.E2284Q	NSD1_ENST00000354179.4_Missense_Mutation_p.E2015Q|NSD1_ENST00000361032.4_Missense_Mutation_p.E2181Q|NSD1_ENST00000347982.4_Missense_Mutation_p.E2015Q	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2284	Pro-rich.				gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.E2284Q(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AAGACCTCTTGAGAGAACTGA	0.537			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												uc003mfr.3		NaN		Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|kidney(1)	3						c.(6850-6852)GAG>CAG		nuclear receptor binding SET domain protein 1							87.0	93.0	91.0					5																	176721219		2203	4300	6503	SO:0001583	missense	64324	Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176721219G>C	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.6850G>C	5.37:g.176721219G>C	ENSP00000395929:p.Glu2284Gln	HNSCC(47;0.14)				NSD1_uc003mft.3_Missense_Mutation_p.E2015Q|NSD1_uc011dfx.1_Missense_Mutation_p.E1932Q	p.E2284Q	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	23	6988	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	2284			Pro-rich.		Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.6850G>C	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.690551	0.29962	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.93076	-3.05;-3.05;-3.05;-3.16	5.41	5.41	0.78517	.	0.620461	0.16068	N	0.231166	D	0.85349	0.5676	N	0.14661	0.345	0.23043	N	0.998388	B;B	0.26258	0.145;0.09	B;B	0.32289	0.143;0.028	T	0.71586	-0.4548	10	0.18710	T	0.47	.	6.3979	0.21622	0.0915:0.0:0.7248:0.1838	.	2015;2284	Q96L73-2;Q96L73	.;NSD1_HUMAN	Q	2015;2284;2015;2181	ENSP00000346111:E2015Q;ENSP00000395929:E2284Q;ENSP00000343209:E2015Q;ENSP00000354310:E2181Q	ENSP00000343209:E2015Q	E	+	1	0	NSD1	176653825	0.043000	0.20138	0.997000	0.53966	0.953000	0.61014	0.727000	0.25999	2.826000	0.97356	0.655000	0.94253	GAG		0.537	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2		NM_172349		42	111	0	0	0	0.01441	0	42	111		
GRM6	2916	broad.mit.edu	37	5	178410024	178410024	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr5:178410024C>T	ENST00000517717.1	-	10	2361	c.2323G>A	c.(2323-2325)Gtg>Atg	p.V775M	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Missense_Mutation_p.V775M			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	775					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)	p.V775M(2)		NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GTCTCGGGCACGCCACGGGCC	0.597																																						uc003mjr.2		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|large_intestine(1)	lung(4)|ovary(2)|breast(1)|pancreas(1)	8						c.(2323-2325)GTG>ATG		glutamate receptor, metabotropic 6 precursor							131.0	107.0	115.0					5																	178410024		2203	4300	6503	SO:0001583	missense	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178410024C>T	U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.2323G>A	5.37:g.178410024C>T	ENSP00000430767:p.Val775Met					GRM6_uc003mjq.2_Missense_Mutation_p.V178M	p.V775M	NM_000843	NP_000834	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	9	2502	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	775			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000517717.1	37	c.2323G>A	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.379871	0.61845	.	.	ENSG00000113262	ENST00000231188;ENST00000517717	D;D	0.89485	-2.52;-2.52	5.18	5.18	0.71444	GPCR, family 3, C-terminal (2);	.	.	.	.	D	0.94823	0.8328	M	0.84683	2.71	0.54753	D	0.999987	D;D	0.76494	0.999;0.998	D;D	0.77557	0.99;0.967	D	0.95314	0.8414	9	0.72032	D	0.01	.	16.5534	0.84478	0.0:1.0:0.0:0.0	.	775;69	O15303;Q5HYM4	GRM6_HUMAN;.	M	775	ENSP00000231188:V775M;ENSP00000430767:V775M	ENSP00000231188:V775M	V	-	1	0	GRM6	178342630	1.000000	0.71417	0.767000	0.31495	0.036000	0.12997	7.658000	0.83755	2.591000	0.87537	0.313000	0.20887	GTG		0.597	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2				17	47	0	0	0	0.00499	0	17	47		
HIVEP1	3096	broad.mit.edu	37	6	12164682	12164682	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr6:12164682G>A	ENST00000379388.2	+	9	8477	c.8145G>A	c.(8143-8145)gtG>gtA	p.V2715V	HIVEP1_ENST00000541134.1_Silent_p.V580V	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2715					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V2715V(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ACAGGCTTGTGATAGCAACCT	0.448																																						uc003nac.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(8143-8145)GTG>GTA		human immunodeficiency virus type I enhancer							34.0	38.0	37.0					6																	12164682		2158	4274	6432	SO:0001819	synonymous_variant	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12164682G>A	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.8145G>A	6.37:g.12164682G>A						HIVEP1_uc011diq.1_RNA	p.V2715V	NM_002114	NP_002105	P15822	ZEP1_HUMAN			9	8324	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	2715					B2RTU3|Q14122|Q5MPB1|Q5VW60	Silent	SNP	ENST00000379388.2	37	c.8145G>A	CCDS43426.1																																																																																				0.448	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2		NM_002114		10	31	0	0	0	0.008291	0	10	31		
HIST1H2BL	8340	broad.mit.edu	37	6	27775562	27775562	+	Nonsense_Mutation	SNP	G	G	C	rs374721250		TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr6:27775562G>C	ENST00000377401.2	-	1	147	c.123C>G	c.(121-123)taC>taG	p.Y41*	HIST1H3H_ENST00000369163.2_5'Flank|HIST1H2AI_ENST00000358739.3_5'Flank	NM_003519.3	NP_003510.1	Q99880	H2B1L_HUMAN	histone cluster 1, H2bl	41					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.Y41*(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						CCTTGTACACGTACACGGAGT	0.587																																						uc003njl.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)		0						c.(121-123)TAC>TAG		histone cluster 1, H2bl							214.0	199.0	204.0					6																	27775562		2203	4298	6501	SO:0001587	stop_gained	8340				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27775562G>C	Z83740	CCDS4625.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000185130	ENSG00000185130		"""Histones / Replication-dependent"""	4748	protein-coding gene	gene with protein product		602800	"""H2B histone family, member C"", ""histone 1, H2bl"""	H2BFC		9439656, 12408966	Standard	NM_003519		Approved	H2B/c, dJ97D16.4	uc003njl.3	Q99880	OTTHUMG00000014485	ENST00000377401.2:c.123C>G	6.37:g.27775562G>C	ENSP00000366618:p.Tyr41*					HIST1H3H_uc003njm.2_5'Flank	p.Y41*	NM_003519	NP_003510	Q99880	H2B1L_HUMAN			1	148	-			41					B2R5A3|Q52LW9	Nonsense_Mutation	SNP	ENST00000377401.2	37	c.123C>G	CCDS4625.1	.	.	.	.	.	.	.	.	.	.	.	24.0	4.477227	0.84640	.	.	ENSG00000185130	ENST00000377401	.	.	.	4.35	2.56	0.30785	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.8662	0.41145	0.1702:0.0:0.8298:0.0	.	.	.	.	X	41	.	ENSP00000366618:Y41X	Y	-	3	2	HIST1H2BL	27883541	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	1.397000	0.34543	0.539000	0.28788	-0.136000	0.14681	TAC		0.587	HIST1H2BL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040153.1		NM_003519		61	130	0	0	0	0.01441	0	61	130		
ZKSCAN3	80317	broad.mit.edu	37	6	28327555	28327555	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr6:28327555G>A	ENST00000377255.3	+	3	489	c.192G>A	c.(190-192)ctG>ctA	p.L64L	ZKSCAN3_ENST00000252211.2_Silent_p.L64L|ZKSCAN3_ENST00000341464.5_Intron	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	64	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				autophagy (GO:0006914)|lysosome organization (GO:0007040)|negative regulation of autophagy (GO:0010507)|negative regulation of cellular senescence (GO:2000773)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L64L(1)		kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						GCGAGGCGCTGAGTCGGCTCC	0.657																																						uc003nle.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(2)	2						c.(190-192)CTG>CTA		zinc finger with KRAB and SCAN domains 3							43.0	51.0	48.0					6																	28327555		2203	4299	6502	SO:0001819	synonymous_variant	80317				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28327555G>A	U71601	CCDS4650.1, CCDS56408.1	6p22.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000189298		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13853	protein-coding gene	gene with protein product		612791	"""zinc finger protein 306"", ""zinc finger protein 309"""	ZNF306, ZNF309		10520746, 22531714	Standard	NM_024493		Approved	Zfp47, ZF47, ZSCAN35	uc003nle.4	Q9BRR0	OTTHUMG00000014521	ENST00000377255.3:c.192G>A	6.37:g.28327555G>A						ZKSCAN3_uc010jrc.2_Silent_p.L64L|ZKSCAN3_uc003nlf.3_Intron	p.L64L	NM_024493	NP_077819	Q9BRR0	ZKSC3_HUMAN			2	408	+			64			SCAN box.		B2R8W2|B3KVC0|H7BXX1|Q5VXH3|Q92972|Q9H4T3	Silent	SNP	ENST00000377255.3	37	c.192G>A	CCDS4650.1																																																																																				0.657	ZKSCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040189.3		NM_024493		30	67	0	0	0	0.008361	0	30	67		
MOG	4340	broad.mit.edu	37	6	29641454	29641454	+	IGR	SNP	C	C	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr6:29641454C>A	ENST00000376917.3	+	0	2160				ZFP57_ENST00000376881.3_Missense_Mutation_p.C125F|ZFP57_ENST00000376883.1_Missense_Mutation_p.C125F|ZFP57_ENST00000488757.1_Missense_Mutation_p.C145F	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.C125F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GGCCCCTCTGCATGCAAGGAA	0.552																																						uc011dlw.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|skin(2)	5						c.(433-435)TGC>TTC		zinc finger protein 57 homolog							121.0	131.0	128.0					6																	29641454		1203	2513	3716	SO:0001628	intergenic_variant	346171				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	g.chr6:29641454C>A		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099		6.37:g.29641454C>A						ZFP57_uc003nnl.3_Missense_Mutation_p.C125F	p.C145F	NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN			4	585	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Missense_Mutation	SNP	ENST00000376917.3	37	c.434G>T	CCDS34370.1	.	.	.	.	.	.	.	.	.	.	C	2.515	-0.312136	0.05422	.	.	ENSG00000204644	ENST00000488757;ENST00000376881;ENST00000376883	T;T;T	0.05855	3.38;3.61;3.61	3.42	-1.33	0.09172	.	1.248630	0.05658	N	0.586382	T	0.00695	0.0023	N	0.08118	0	0.09310	N	1	B;B	0.34241	0.444;0.444	B;B	0.31547	0.132;0.132	T	0.42732	-0.9434	10	0.10111	T	0.7	.	2.9207	0.05768	0.2045:0.3119:0.0:0.4836	.	145;125	Q9NU63-3;Q9NU63-2	.;.	F	145;125;125	ENSP00000418259:C145F;ENSP00000366078:C125F;ENSP00000366080:C125F	ENSP00000366078:C125F	C	-	2	0	ZFP57	29749433	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.588000	0.23924	-0.262000	0.09392	-0.182000	0.12963	TGC		0.552	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3		NM_002433		47	80	1	0	1.56793e-16	0.01441	1.72874e-16	47	80		
CDKN1A	1026	broad.mit.edu	37	6	36652060	36652060	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq;WGS			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr6:36652060G>T	ENST00000405375.1	+	2	417	c.182G>T	c.(181-183)gGt>gTt	p.G61V	CDKN1A_ENST00000373711.2_Missense_Mutation_p.G61V|CDKN1A_ENST00000448526.2_Missense_Mutation_p.G95V|CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000244741.5_Missense_Mutation_p.G61V	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	61					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to ionizing radiation (GO:0071479)|cellular senescence (GO:0090398)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of gene expression (GO:0010629)|negative regulation of phosphorylation (GO:0042326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ regeneration (GO:0031100)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of DNA biosynthetic process (GO:2000278)|regulation of protein import into nucleus, translocation (GO:0033158)|response to arsenic-containing substance (GO:0046685)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to organonitrogen compound (GO:0010243)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|stress-induced premature senescence (GO:0090400)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA-p21 complex (GO:0070557)	cyclin-dependent protein kinase activating kinase activity (GO:0019912)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)	p.G61V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						CCACTGGAGGGTGACTTCGCC	0.672																																						uc003omm.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|breast(1)	2						c.(181-183)GGT>GTT		cyclin-dependent kinase inhibitor 1A							57.0	51.0	53.0					6																	36652060		2203	4300	6503	SO:0001583	missense	1026	Multiple_Endocrine_Neoplasia_type_1			cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding	g.chr6:36652060G>T	U03106	CCDS4824.1	6p21.1	2009-01-21			ENSG00000124762	ENSG00000124762			1784	protein-coding gene	gene with protein product		116899		CDKN1			Standard	NM_000389		Approved	P21, CIP1, WAF1, SDI1, CAP20, p21CIP1, p21Cip1/Waf1	uc021yzb.1	P38936	OTTHUMG00000014603	ENST00000405375.1:c.182G>T	6.37:g.36652060G>T	ENSP00000384849:p.Gly61Val					CDKN1A_uc011dtq.1_Missense_Mutation_p.G95V|CDKN1A_uc003oml.2_Missense_Mutation_p.G61V|CDKN1A_uc003omn.2_Missense_Mutation_p.G61V	p.G61V	NM_000389	NP_000380	P38936	CDN1A_HUMAN			2	304	+			61					Q14010|Q6FI05|Q9BUT4	Missense_Mutation	SNP	ENST00000405375.1	37	c.182G>T	CCDS4824.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.680731	0.88542	.	.	ENSG00000124762	ENST00000448526;ENST00000244741;ENST00000405375;ENST00000373711	D;D;D;D	0.94046	-3.34;-3.34;-3.34;-3.34	5.23	5.23	0.72850	.	0.000000	0.56097	D	0.000027	D	0.96886	0.8983	M	0.89534	3.04	0.80722	D	1	D;D;D	0.89917	0.999;0.997;1.0	D;D;D	0.85130	0.988;0.988;0.997	D	0.97208	0.9869	10	0.87932	D	0	-36.0879	14.1752	0.65537	0.0:0.0:1.0:0.0	.	95;61;61	B4DQP9;P38936;Q96LE1	.;CDN1A_HUMAN;.	V	95;61;61;61	ENSP00000409259:G95V;ENSP00000244741:G61V;ENSP00000384849:G61V;ENSP00000362815:G61V	ENSP00000244741:G61V	G	+	2	0	CDKN1A	36760038	1.000000	0.71417	0.993000	0.49108	0.988000	0.76386	6.535000	0.73838	2.724000	0.93272	0.561000	0.74099	GGT		0.672	CDKN1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040354.1		NM_078467		14	29	1	0	2.61681e-11	0.020292	2.82879e-11	14	29		
CUL9	23113	broad.mit.edu	37	6	43155601	43155601	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr6:43155601G>A	ENST00000252050.4	+	7	1816	c.1732G>A	c.(1732-1734)Gaa>Aaa	p.E578K	CUL9_ENST00000372647.2_Missense_Mutation_p.E578K|CUL9_ENST00000354495.3_Missense_Mutation_p.E468K	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	578					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)	p.E578K(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GCTGTCTAATGAACCAAGCAG	0.522																																						uc003ouk.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						c.(1732-1734)GAA>AAA		p53-associated parkin-like cytoplasmic protein							99.0	91.0	94.0					6																	43155601		2203	4300	6503	SO:0001583	missense	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43155601G>A	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.1732G>A	6.37:g.43155601G>A	ENSP00000252050:p.Glu578Lys					CUL9_uc003ouj.1_Missense_Mutation_p.E468K|CUL9_uc003oul.2_Missense_Mutation_p.E578K|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_Missense_Mutation_p.E36K	p.E578K	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN			7	1807	+			578					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	c.1732G>A	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	G	5.839	0.339027	0.11069	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.73897	-0.77;-0.79;-0.68	4.97	3.03	0.35002	.	4.184280	0.00166	N	0.000001	T	0.44095	0.1277	L	0.29908	0.895	0.09310	N	1	B;B;B	0.16166	0.016;0.016;0.001	B;B;B	0.16722	0.016;0.016;0.001	T	0.26883	-1.0090	10	0.32370	T	0.25	-0.3587	6.1447	0.20278	0.2308:0.0:0.7692:0.0	.	578;578;578	E9PEZ1;Q8IWT3;Q05C85	.;CUL9_HUMAN;.	K	578;468;578	ENSP00000252050:E578K;ENSP00000346490:E468K;ENSP00000361730:E578K	ENSP00000252050:E578K	E	+	1	0	CUL9	43263579	0.007000	0.16637	0.003000	0.11579	0.014000	0.08584	1.578000	0.36525	1.324000	0.45282	0.467000	0.42956	GAA		0.522	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2		NM_015089		20	41	0	0	0	0.010504	0	20	41		
CUL9	23113	broad.mit.edu	37	6	43194090	43194090	+	IGR	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr6:43194090G>A	ENST00000252050.4	+	0	7780				RP3-330M21.5_ENST00000500590.1_RNA|DNPH1_ENST00000230431.6_Silent_p.D80D|DNPH1_ENST00000393987.2_Silent_p.D80D	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9						microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)	p.D80D(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GCCACTCCAGGTCCTGCTCAT	0.617																																						uc003ouo.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)		0						c.(238-240)GAC>GAT		putative c-Myc-responsive isoform 1							54.0	46.0	48.0					6																	43194090		2203	4300	6503	SO:0001628	intergenic_variant	10591				cell proliferation|deoxyribonucleoside monophosphate catabolic process|positive regulation of cell growth	cytoplasm|nucleus	deoxyribonucleoside 5'-monophosphate N-glycosidase activity|nucleoside deoxyribosyltransferase activity	g.chr6:43194090G>A	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723		6.37:g.43194090G>A						C6orf108_uc003oup.2_Silent_p.D80D	p.D80D	NM_006443	NP_006434	O43598	RCL_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0123)|OV - Ovarian serous cystadenocarcinoma(102;0.0531)		2	257	-			80					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	ENST00000252050.4	37	c.240C>T	CCDS4890.1																																																																																				0.617	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2		NM_015089		7	31	0	0	0	0.00308	0	7	31		
TJAP1	93643	broad.mit.edu	37	6	43472671	43472671	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr6:43472671G>A	ENST00000372445.5	+	11	1128	c.752G>A	c.(751-753)aGc>aAc	p.S251N	TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000372449.1_Missense_Mutation_p.S251N|TJAP1_ENST00000259751.1_Missense_Mutation_p.S241N|TJAP1_ENST00000438588.2_Missense_Mutation_p.S251N|TJAP1_ENST00000372444.2_Missense_Mutation_p.S241N|TJAP1_ENST00000436109.2_Missense_Mutation_p.S241N|TJAP1_ENST00000372452.1_Missense_Mutation_p.S241N	NM_001146016.1	NP_001139488.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	251					Golgi organization (GO:0007030)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)		p.S241N(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CAGTCAGGCAGCGCCGGGCGC	0.642																																						uc003ovd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(751-753)AGC>AAC		tight junction associated protein 1 isoform a							76.0	77.0	77.0					6																	43472671		2203	4300	6503	SO:0001583	missense	93643					Golgi apparatus|tight junction	protein binding	g.chr6:43472671G>A	AK024269	CCDS4898.1, CCDS55004.1	6p21.1	2008-02-05	2005-07-05	2005-07-05	ENSG00000137221	ENSG00000137221			17949	protein-coding gene	gene with protein product		612658	"""tight junction protein 4 (peripheral)"""	TJP4		11602598	Standard	NM_001146016		Approved	PILT	uc011dvh.1	Q5JTD0	OTTHUMG00000014736	ENST00000372445.5:c.752G>A	6.37:g.43472671G>A	ENSP00000361522:p.Ser251Asn					TJAP1_uc003ovf.2_Missense_Mutation_p.S241N|TJAP1_uc003ove.2_Missense_Mutation_p.S241N|TJAP1_uc003ovc.2_Missense_Mutation_p.S241N|TJAP1_uc010jyp.2_Missense_Mutation_p.S210N|TJAP1_uc011dvh.1_Missense_Mutation_p.S241N|TJAP1_uc003ovg.2_Missense_Mutation_p.S117N|TJAP1_uc011dvi.1_Missense_Mutation_p.S251N|TJAP1_uc011dvj.1_Missense_Mutation_p.S51N|TJAP1_uc003ovi.2_Missense_Mutation_p.S117N	p.S251N	NM_001146016	NP_001139488	Q5JTD0	TJAP1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		11	1128	+	all_lung(25;0.00536)		251					Q05BH9|Q5JTD1|Q5JWW1|Q68DB2|Q6P2P3|Q9H7V7	Missense_Mutation	SNP	ENST00000372445.5	37	c.752G>A	CCDS55004.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.605958	0.87157	.	.	ENSG00000137221	ENST00000372444;ENST00000372445;ENST00000436109;ENST00000259751;ENST00000372454;ENST00000372452;ENST00000372449;ENST00000438588	T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.58991	0.2161	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.87578	0.986;0.998	T	0.62253	-0.6893	10	0.56958	D	0.05	-48.4957	18.5697	0.91130	0.0:0.0:1.0:0.0	.	251;241	Q5JTD0;Q5JTD0-2	TJAP1_HUMAN;.	N	241;251;241;241;241;241;251;251	ENSP00000361521:S241N;ENSP00000361522:S251N;ENSP00000407080:S241N;ENSP00000259751:S241N;ENSP00000361530:S241N;ENSP00000361527:S251N;ENSP00000408769:S251N	ENSP00000259751:S241N	S	+	2	0	TJAP1	43580649	1.000000	0.71417	0.961000	0.40146	0.859000	0.49053	7.592000	0.82676	2.359000	0.80004	0.561000	0.74099	AGC		0.642	TJAP1-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040629.1		NM_080604		54	86	0	0	0	0.01441	0	54	86		
IMPG1	3617	broad.mit.edu	37	6	76720899	76720899	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr6:76720899G>T	ENST00000369950.3	-	8	1039	c.850C>A	c.(850-852)Cat>Aat	p.H284N	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1									p.H284N(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CCTAACACATGGATTTTTTTG	0.313																																					Pancreas(37;839 1141 2599 26037)	uc003pik.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(850-852)CAT>AAT		interphotoreceptor matrix proteoglycan 1							51.0	56.0	55.0					6																	76720899		2200	4298	6498	SO:0001583	missense	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76720899G>T	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.850C>A	6.37:g.76720899G>T	ENSP00000358966:p.His284Asn						p.H284N	NM_001563	NP_001554	Q17R60	IMPG1_HUMAN			8	980	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	284			SEA 1.			Missense_Mutation	SNP	ENST00000369950.3	37	c.850C>A	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.742836	0.69418	.	.	ENSG00000112706	ENST00000369950	T	0.38077	1.16	5.56	5.56	0.83823	SEA (3);	0.278386	0.31450	N	0.007636	T	0.43322	0.1242	M	0.61703	1.905	0.80722	D	1	P	0.51240	0.943	P	0.53809	0.735	T	0.32929	-0.9888	10	0.62326	D	0.03	.	17.6733	0.88224	0.0:0.0:1.0:0.0	.	284	Q17R60	IMPG1_HUMAN	N	284	ENSP00000358966:H284N	ENSP00000358966:H284N	H	-	1	0	IMPG1	76777619	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.348000	0.59379	2.771000	0.95319	0.650000	0.86243	CAT		0.313	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1		NM_001563		11	21	1	0	1.58986e-06	0.008291	1.68109e-06	11	21		
GABRR2	2570	broad.mit.edu	37	6	89974215	89974215	+	Silent	SNP	G	G	A	rs572861153		TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr6:89974215G>A	ENST00000402938.3	-	8	1135	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F	GABRR2_ENST00000602399.1_Silent_p.F359F	NM_002043.3	NP_002034.3	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	334					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.F334F(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	AGAGGAACACGAACACAAAGC	0.592																																						uc003pnb.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1075-1077)TTC>TTT		gamma-aminobutyric acid (GABA) receptor, rho 2							146.0	114.0	125.0					6																	89974215		2203	4300	6503	SO:0001819	synonymous_variant	2570				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr6:89974215G>A		CCDS5020.2, CCDS5020.3	6q15	2012-06-22	2012-02-03		ENSG00000111886	ENSG00000111886		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4091	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 2"""	137162	"""gamma-aminobutyric acid (GABA) receptor, rho 2"""			1315307	Standard	NM_002043		Approved		uc003pnb.3	P28476	OTTHUMG00000015198	ENST00000402938.3:c.1002C>T	6.37:g.89974215G>A						GABRR2_uc011dzx.1_Silent_p.F235F	p.F359F	NM_002043	NP_002034	P28476	GBRR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0158)	8	1085	-		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)	359			Helical; (Potential).		A2BDE4|Q9H153	Silent	SNP	ENST00000402938.3	37	c.1077C>T	CCDS5020.3																																																																																				0.592	GABRR2-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041482.3				23	29	0	0	0	0.012319	0	23	29		
BVES	11149	broad.mit.edu	37	6	105581450	105581450	+	Start_Codon_SNP	SNP	C	C	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr6:105581450C>A	ENST00000314641.5	-	2	219	c.3G>T	c.(1-3)atG>atT	p.M1I	BVES_ENST00000336775.5_Start_Codon_SNP_p.M1I|BVES-AS1_ENST00000580511.1_RNA|BVES_ENST00000446408.2_Start_Codon_SNP_p.M1I	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	1					epithelial cell-cell adhesion (GO:0090136)|hematopoietic progenitor cell differentiation (GO:0002244)|muscle organ development (GO:0007517)|positive regulation of locomotion (GO:0040017)|positive regulation of receptor recycling (GO:0001921)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|regulation of Rac GTPase activity (GO:0032314)|sinoatrial node cell development (GO:0060931)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cAMP binding (GO:0030552)|structural molecule activity (GO:0005198)	p.M1I(1)		NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				CTGTATAATTCATTTTGAAAA	0.323																																						uc003pqw.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1-3)ATG>ATT		blood vessel epicardial substance isoform 5							86.0	90.0	89.0					6																	105581450		2203	4300	6503	SO:0001582	initiator_codon_variant	11149				epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity	g.chr6:105581450C>A	AF124512	CCDS5051.1	6q21	2008-11-25			ENSG00000112276	ENSG00000112276			1152	protein-coding gene	gene with protein product	"""popeye domain containing 1"""	604577				10441744, 10882522	Standard	NM_147147		Approved	HBVES, POP1, POPDC1	uc003pqx.3	Q8NE79	OTTHUMG00000015291	ENST00000314641.5:c.3G>T	6.37:g.105581450C>A	ENSP00000313172:p.Met1Ile					BVES_uc003pqx.2_Missense_Mutation_p.M1I|BVES_uc003pqy.2_Missense_Mutation_p.M1I	p.M1I	NM_147147	NP_671488	Q8NE79	POPD1_HUMAN			2	160	-		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)	1			Extracellular (Potential).		A8K1R4|E1P5D8|Q5T550|Q5T551|Q8IWC6|Q9HBV0|Q9UNG6	Missense_Mutation	SNP	ENST00000314641.5	37	c.3G>T	CCDS5051.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.632804	0.47049	.	.	ENSG00000112276	ENST00000314641;ENST00000336775;ENST00000446408	T;T;T	0.17854	2.25;2.25;2.25	5.42	5.42	0.78866	.	0.545173	0.21330	N	0.076302	T	0.15219	0.0367	.	.	.	0.80722	D	1	P	0.49447	0.924	P	0.47044	0.535	T	0.00717	-1.1596	9	0.62326	D	0.03	-16.5122	13.5138	0.61528	0.0:0.925:0.0:0.075	.	1	Q8NE79	POPD1_HUMAN	I	1	ENSP00000313172:M1I;ENSP00000337259:M1I;ENSP00000397310:M1I	ENSP00000313172:M1I	M	-	3	0	BVES	105688143	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	3.792000	0.55476	2.533000	0.85409	0.563000	0.77884	ATG		0.323	BVES-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406075.1		NM_147147	Missense_Mutation	32	55	1	0	1.06801e-11	0.009535	1.16101e-11	32	55		
THEMIS	387357	broad.mit.edu	37	6	128040891	128040891	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr6:128040891C>G	ENST00000368248.2	-	5	1984	c.1836G>C	c.(1834-1836)caG>caC	p.Q612H	THEMIS_ENST00000537166.1_Missense_Mutation_p.Q577H|THEMIS_ENST00000543064.1_Missense_Mutation_p.Q651H|THEMIS_ENST00000368250.1_Missense_Mutation_p.Q533H	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	612					negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.Q612H(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CCAAATCATTCTGACTACCAA	0.443																																						uc003qbi.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(2)	4						c.(1834-1836)CAG>CAC		thymocyte selection pathway associated isoform							207.0	181.0	190.0					6																	128040891		2203	4300	6503	SO:0001583	missense	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128040891C>G	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.1836G>C	6.37:g.128040891C>G	ENSP00000357231:p.Gln612His					THEMIS_uc010kfa.2_Missense_Mutation_p.Q515H|THEMIS_uc011ebt.1_Missense_Mutation_p.Q651H|THEMIS_uc010kfb.2_Missense_Mutation_p.Q577H	p.Q612H	NM_001010923	NP_001010923	Q8N1K5	THMS1_HUMAN			6	2155	-			612					A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	37	c.1836G>C	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.750970	0.49257	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166	T;T;T;T	0.23348	2.16;1.91;2.17;2.17	5.78	1.03	0.20045	.	0.340437	0.24105	N	0.041508	T	0.07773	0.0195	L	0.51422	1.61	0.30095	N	0.807998	B;B	0.27656	0.184;0.115	B;B	0.24974	0.057;0.026	T	0.14448	-1.0472	10	0.72032	D	0.01	-0.8307	3.4909	0.07637	0.0:0.2916:0.2141:0.4943	.	651;612	F5H1J9;Q8N1K5	.;THMS1_HUMAN	H	533;651;612;577	ENSP00000357233:Q533H;ENSP00000439594:Q651H;ENSP00000357231:Q612H;ENSP00000439863:Q577H	ENSP00000357231:Q612H	Q	-	3	2	THEMIS	128082584	0.995000	0.38212	0.984000	0.44739	0.375000	0.29983	0.057000	0.14279	0.246000	0.21394	0.650000	0.86243	CAG		0.443	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding			NM_001010923		42	27	0	0	0	0.027894	0	42	27		
STXBP5	134957	broad.mit.edu	37	6	147648368	147648368	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr6:147648368G>A	ENST00000321680.6	+	18	2036	c.2036G>A	c.(2035-2037)cGg>cAg	p.R679Q	STXBP5_ENST00000367480.3_Missense_Mutation_p.R679Q|STXBP5_ENST00000367481.3_Missense_Mutation_p.R679Q|STXBP5_ENST00000179882.6_Missense_Mutation_p.R350Q	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	679					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)	p.R679Q(2)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GATCCTTATCGGAGAGAACCC	0.418																																						uc003qlz.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(2035-2037)CGG>CAG		syntaxin binding protein 5 (tomosyn) isoform b							113.0	106.0	108.0					6																	147648368		2203	4300	6503	SO:0001583	missense	134957				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	g.chr6:147648368G>A	AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.2036G>A	6.37:g.147648368G>A	ENSP00000321826:p.Arg679Gln					STXBP5_uc010khz.1_Missense_Mutation_p.R679Q|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Missense_Mutation_p.R350Q|STXBP5_uc003qma.2_Missense_Mutation_p.R26Q	p.R679Q	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	18	2197	+		Ovarian(120;0.0164)	679			WD 10.		Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	ENST00000321680.6	37	c.2036G>A	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	G	7.660	0.684722	0.14973	.	.	ENSG00000164506	ENST00000367479;ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882;ENST00000392291	T;T;T;T;T	0.35973	2.76;2.81;2.77;3.41;1.28	6.07	6.07	0.98685	.	0.112447	0.64402	D	0.000006	T	0.02571	0.0078	N	0.00081	-2.22	0.46131	D	0.998884	B;B;B;B	0.17465	0.0;0.007;0.022;0.01	B;B;B;B	0.10450	0.001;0.005;0.002;0.001	T	0.48387	-0.9040	10	0.05959	T	0.93	.	13.7999	0.63192	0.0696:0.0:0.9304:0.0	.	679;20;679;350	Q5T5C0-2;Q5JRH1;Q5T5C0;B3KXX0	.;.;STXB5_HUMAN;.	Q	26;679;679;679;350;11	ENSP00000356451:R679Q;ENSP00000321826:R679Q;ENSP00000356450:R679Q;ENSP00000179882:R350Q;ENSP00000376112:R11Q	ENSP00000179882:R350Q	R	+	2	0	STXBP5	147690061	1.000000	0.71417	0.998000	0.56505	0.555000	0.35460	7.429000	0.80309	2.890000	0.99128	0.585000	0.79938	CGG		0.418	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1				28	57	0	0	0	0.007291	0	28	57		
ULBP3	79465	broad.mit.edu	37	6	150387242	150387242	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr6:150387242G>A	ENST00000367339.2	-	2	173	c.145C>T	c.(145-147)Cag>Tag	p.Q49*	ULBP3_ENST00000438272.2_Nonsense_Mutation_p.Q49*			Q9BZM4	N2DL3_HUMAN	UL16 binding protein 3	49	MHC class I alpha-1 like.				antigen processing and presentation (GO:0019882)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)|viral process (GO:0016032)	anchored component of plasma membrane (GO:0046658)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)	p.Q49*(1)		central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		TCACACCACTGTTGCCCATGT	0.473																																						uc003qns.3		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)		0						c.(145-147)CAG>TAG		UL16 binding protein 3 precursor							102.0	95.0	98.0					6																	150387242		2203	4300	6503	SO:0001587	stop_gained	79465				antigen processing and presentation|immune response|natural killer cell activation	anchored to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:150387242G>A	AF304379	CCDS5225.1	6q25	2008-04-11			ENSG00000131019	ENSG00000131019			14895	protein-coding gene	gene with protein product		605699				11239445, 11827464	Standard	NM_024518		Approved	RAET1N	uc003qns.3	Q9BZM4	OTTHUMG00000015811	ENST00000367339.2:c.145C>T	6.37:g.150387242G>A	ENSP00000356308:p.Gln49*					ULBP3_uc011eej.1_5'Flank|ULBP3_uc011eek.1_Intron	p.Q49*	NM_024518	NP_078794	Q9BZM4	N2DL3_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)	2	145	-		Ovarian(120;0.12)	49			MHC class I alpha-1 like.		Q5VY82|Q8IZX5|Q8TE75	Nonsense_Mutation	SNP	ENST00000367339.2	37	c.145C>T	CCDS5225.1	.	.	.	.	.	.	.	.	.	.	G	10.40	1.340707	0.24339	.	.	ENSG00000131019	ENST00000253335;ENST00000367339;ENST00000438272	.	.	.	3.17	-2.01	0.07410	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	0.4047	0.4842	0.00553	0.315:0.1795:0.3229:0.1826	.	.	.	.	X	49	.	ENSP00000253335:Q49X	Q	-	1	0	ULBP3	150428935	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.117000	0.03283	-0.483000	0.06772	-1.508000	0.00951	CAG		0.473	ULBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042678.2				34	63	0	0	0	0.019004	0	34	63		
CCDC170	80129	broad.mit.edu	37	6	151914325	151914325	+	Missense_Mutation	SNP	C	C	A	rs113968720	byFrequency	TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr6:151914325C>A	ENST00000239374.7	+	8	1476	c.1377C>A	c.(1375-1377)gaC>gaA	p.D459E	CCDC170_ENST00000367290.5_Missense_Mutation_p.D459E	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	459								p.D459E(1)									TGCGGCTGGACGTGGTTTTAG	0.453																																						uc003qol.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1375-1377)GAC>GAA		hypothetical protein LOC80129							102.0	95.0	97.0					6																	151914325		1925	4146	6071	SO:0001583	missense	80129							g.chr6:151914325C>A	AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.1377C>A	6.37:g.151914325C>A	ENSP00000239374:p.Asp459Glu						p.D459E	NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)	8	1466	+		Ovarian(120;0.126)	459					Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	ENST00000239374.7	37	c.1377C>A	CCDS43515.1	.	.	.	.	.	.	.	.	.	.	C	1.668	-0.509683	0.04231	.	.	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.08102	3.13;3.13	5.87	-3.05	0.05396	.	0.188188	0.47093	D	0.000241	T	0.00845	0.0028	N	0.24115	0.695	0.25782	N	0.984713	B	0.21606	0.058	B	0.20384	0.029	T	0.44498	-0.9324	10	0.02654	T	1	-8.8429	3.0802	0.06260	0.1026:0.3079:0.1058:0.4837	.	459	Q8IYT3	CF097_HUMAN	E	459	ENSP00000239374:D459E;ENSP00000356259:D459E	ENSP00000239374:D459E	D	+	3	2	C6orf97	151956018	0.956000	0.32656	0.261000	0.24466	0.334000	0.28698	0.168000	0.16622	-0.269000	0.09298	-0.238000	0.12139	GAC		0.453	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2		NM_025059		33	32	1	0	8.53417e-09	0.013726	9.12355e-09	33	32		
TFB1M	51106	broad.mit.edu	37	6	155579176	155579176	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr6:155579176T>C	ENST00000367166.4	-	7	890	c.835A>G	c.(835-837)Agg>Ggg	p.R279G	RP11-477D19.2_ENST00000435295.1_RNA	NM_016020.3	NP_057104.2	Q8WVM0	TFB1M_HUMAN	transcription factor B1, mitochondrial	279					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrial nucleoid (GO:0042645)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)	p.R279G(1)		lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)		TCTAACAGCCTGCCCGTGCTT	0.453																																						uc003qqj.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(835-837)AGG>GGG		transcription factor B1, mitochondrial							101.0	108.0	105.0					6																	155579176		2203	4300	6503	SO:0001583	missense	51106				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity	g.chr6:155579176T>C	AF151833	CCDS5248.1	6q25.1-q25.3	2011-01-28			ENSG00000029639	ENSG00000029639			17037	protein-coding gene	gene with protein product	"""dimethyladenosine transferase 1, mitochondrial"""	607033				10810093, 11809803	Standard	NM_016020		Approved	mtTFB, CGI-75	uc003qqj.4	Q8WVM0	OTTHUMG00000015881	ENST00000367166.4:c.835A>G	6.37:g.155579176T>C	ENSP00000356134:p.Arg279Gly					TFB1M_uc003qqk.2_Intron|uc003qqi.1_5'Flank	p.R279G	NM_016020	NP_057104	Q8WVM0	TFB1M_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)	7	899	-		Ovarian(120;0.196)	279					Q05DR0|Q9Y384	Missense_Mutation	SNP	ENST00000367166.4	37	c.835A>G	CCDS5248.1	.	.	.	.	.	.	.	.	.	.	T	9.216	1.032208	0.19590	.	.	ENSG00000029639	ENST00000367166	T	0.28895	1.59	5.91	3.52	0.40303	rRNA adenine dimethylase-like (1);	0.366902	0.31872	N	0.006930	T	0.05960	0.0155	N	0.12611	0.24	0.18873	N	0.999983	B	0.02656	0.0	B	0.04013	0.001	T	0.27226	-1.0080	10	0.40728	T	0.16	-13.5966	8.0083	0.30338	0.0:0.0769:0.4538:0.4693	.	279	Q8WVM0	TFB1M_HUMAN	G	279	ENSP00000356134:R279G	ENSP00000356134:R279G	R	-	1	2	TFB1M	155620868	0.939000	0.31865	0.001000	0.08648	0.314000	0.28054	1.961000	0.40432	1.029000	0.39812	0.533000	0.62120	AGG		0.453	TFB1M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042809.1				29	94	0	0	0	0.007291	0	29	94		
NUPL2	11097	broad.mit.edu	37	7	23236339	23236339	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr7:23236339G>A	ENST00000258742.5	+	5	822	c.563G>A	c.(562-564)aGg>aAg	p.R188K		NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	188					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 export from nucleus (GO:0006611)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclear export signal receptor activity (GO:0005049)|poly(A) RNA binding (GO:0044822)	p.R188K(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGGAGGAACAGGGTAAATGAA	0.328																																						uc003svu.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)|ovary(1)	3						c.(562-564)AGG>AAG		nucleoporin like 2							86.0	88.0	87.0					7																	23236339		2203	4299	6502	SO:0001583	missense	11097				carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding	g.chr7:23236339G>A	U97198	CCDS5379.1	7p15	2003-08-07			ENSG00000136243	ENSG00000136243			17010	protein-coding gene	gene with protein product	"""nucleoporin-like protein 1"""					10358091, 9450185	Standard	NM_007342		Approved	NLP_1, CG1, hCG1, H_RG271G13.9	uc003svu.3	O15504	OTTHUMG00000096955	ENST00000258742.5:c.563G>A	7.37:g.23236339G>A	ENSP00000258742:p.Arg188Lys					NUPL2_uc003svv.2_RNA|NUPL2_uc003svw.2_Missense_Mutation_p.R65K|NUPL2_uc011jyw.1_RNA|NUPL2_uc003svx.2_Missense_Mutation_p.R65K|NUPL2_uc011jyx.1_5'UTR	p.R188K	NM_007342	NP_031368	O15504	NUPL2_HUMAN			5	822	+			188					A4D143|B4DP42|Q49AE7|Q9BS49	Missense_Mutation	SNP	ENST00000258742.5	37	c.563G>A	CCDS5379.1	.	.	.	.	.	.	.	.	.	.	G	31	5.082636	0.94050	.	.	ENSG00000136243	ENST00000258742;ENST00000413919	T;T	0.39056	1.41;1.1	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.60650	0.2285	L	0.61387	1.9	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.52193	-0.8608	10	0.14656	T	0.56	-19.8621	18.2456	0.89984	0.0:0.0:1.0:0.0	.	188	O15504	NUPL2_HUMAN	K	188	ENSP00000258742:R188K;ENSP00000401475:R188K	ENSP00000258742:R188K	R	+	2	0	NUPL2	23202864	1.000000	0.71417	0.995000	0.50966	0.980000	0.70556	4.579000	0.60936	2.641000	0.89580	0.591000	0.81541	AGG		0.328	NUPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214017.2		NM_007342		25	40	0	0	0	0.024334	0	25	40		
OGDH	4967	broad.mit.edu	37	7	44739835	44739835	+	Silent	SNP	A	A	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr7:44739835A>G	ENST00000222673.5	+	19	2568	c.2526A>G	c.(2524-2526)ctA>ctG	p.L842L	OGDH_ENST00000447398.1_Silent_p.L853L|OGDH_ENST00000439616.2_Silent_p.L692L|OGDH_ENST00000543843.1_Silent_p.L793L|OGDH_ENST00000449767.1_Silent_p.L838L|OGDH_ENST00000444676.1_Silent_p.L857L	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	842					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.L842L(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	TCCACGTGCTACGACGCCAGA	0.567																																						uc003tln.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(2524-2526)CTA>CTG		oxoglutarate dehydrogenase isoform 1 precursor	NADH(DB00157)						133.0	101.0	112.0					7																	44739835		2203	4300	6503	SO:0001819	synonymous_variant	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44739835A>G	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.2526A>G	7.37:g.44739835A>G						OGDH_uc011kbx.1_Silent_p.L838L|OGDH_uc011kby.1_Silent_p.L692L|OGDH_uc003tlp.2_Silent_p.L853L|OGDH_uc011kbz.1_Silent_p.L637L	p.L842L	NM_002541	NP_002532	Q02218	ODO1_HUMAN			19	2635	+			842					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Silent	SNP	ENST00000222673.5	37	c.2526A>G	CCDS34627.1																																																																																				0.567	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1				33	39	0	0	0	0.012213	0	33	39		
ABCA13	154664	broad.mit.edu	37	7	48314904	48314904	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr7:48314904G>C	ENST00000435803.1	+	17	5665	c.5641G>C	c.(5641-5643)Gaa>Caa	p.E1881Q		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1881					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.E1826Q(1)|p.E1881Q(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTCCCGAATGGAAATAACTAG	0.403																																						uc003toq.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(5)|central_nervous_system(4)|skin(1)	10						c.(5641-5643)GAA>CAA		ATP binding cassette, sub-family A (ABC1),							62.0	63.0	63.0					7																	48314904		1811	4074	5885	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48314904G>C	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.5641G>C	7.37:g.48314904G>C	ENSP00000411096:p.Glu1881Gln					ABCA13_uc010kyr.2_Missense_Mutation_p.E1384Q	p.E1881Q	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			17	5666	+			1881					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.5641G>C	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.403727	0.25291	.	.	ENSG00000179869	ENST00000435803	T	0.27104	1.69	6.16	4.38	0.52667	.	0.119607	0.37530	N	0.002053	T	0.29783	0.0744	M	0.64997	1.995	0.19300	N	0.999972	D	0.53619	0.961	P	0.47206	0.541	T	0.18085	-1.0348	9	.	.	.	.	7.4442	0.27201	0.141:0.0:0.725:0.134	.	1881	Q86UQ4	ABCAD_HUMAN	Q	1881	ENSP00000411096:E1881Q	.	E	+	1	0	ABCA13	48285450	0.271000	0.24162	0.033000	0.17914	0.009000	0.06853	2.554000	0.45845	0.947000	0.37659	-0.142000	0.14014	GAA		0.403	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2		NM_152701		38	58	0	0	0	0.017118	0	38	58		
ABCA13	154664	broad.mit.edu	37	7	48315084	48315084	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr7:48315084G>C	ENST00000435803.1	+	17	5845	c.5821G>C	c.(5821-5823)Gaa>Caa	p.E1941Q		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1941					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.E1941Q(1)|p.E1886Q(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TAGCATCTCTGAACTCTGTCC	0.338																																						uc003toq.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(5)|central_nervous_system(4)|skin(1)	10						c.(5821-5823)GAA>CAA		ATP binding cassette, sub-family A (ABC1),							103.0	103.0	103.0					7																	48315084		1830	4088	5918	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48315084G>C	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.5821G>C	7.37:g.48315084G>C	ENSP00000411096:p.Glu1941Gln					ABCA13_uc010kyr.2_Missense_Mutation_p.E1444Q	p.E1941Q	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			17	5846	+			1941					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.5821G>C	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	5.116	0.207050	0.09704	.	.	ENSG00000179869	ENST00000435803	T	0.19669	2.13	5.73	2.51	0.30379	.	1.241530	0.05787	N	0.609629	T	0.21841	0.0526	L	0.56769	1.78	0.09310	N	1	B	0.14012	0.009	B	0.10450	0.005	T	0.28933	-1.0028	9	.	.	.	.	5.5164	0.16908	0.2204:0.1689:0.6108:0.0	.	1941	Q86UQ4	ABCAD_HUMAN	Q	1941	ENSP00000411096:E1941Q	.	E	+	1	0	ABCA13	48285630	0.001000	0.12720	0.003000	0.11579	0.078000	0.17371	0.419000	0.21247	0.755000	0.32990	0.650000	0.86243	GAA		0.338	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2		NM_152701		47	88	0	0	0	0.01441	0	47	88		
AKAP9	10142	broad.mit.edu	37	7	91630326	91630326	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr7:91630326G>C	ENST00000359028.2	+	9	1356	c.1131G>C	c.(1129-1131)caG>caC	p.Q377H	AKAP9_ENST00000358100.2_Missense_Mutation_p.Q377H|AKAP9_ENST00000356239.3_Missense_Mutation_p.Q365H			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	377	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.Q365H(1)|p.Q377H(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			tacaagaacagattgtgcaaa	0.279			T	BRAF	papillary thyroid																																	uc003ulg.2		NaN		Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		2	Substitution - Missense(2)		urinary_tract(2)	breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26						c.(1093-1095)CAG>CAC		A-kinase anchor protein 9 isoform 2							25.0	25.0	25.0					7																	91630326		2188	4260	6448	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91630326G>C	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.1131G>C	7.37:g.91630326G>C	ENSP00000351922:p.Gln377His					AKAP9_uc003ule.2_Missense_Mutation_p.Q377H|AKAP9_uc003ulf.2_Missense_Mutation_p.Q365H|AKAP9_uc003uli.2_5'UTR	p.Q365H	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		8	1320	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		377			Glu-rich.|Potential.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.1095G>C		.	.	.	.	.	.	.	.	.	.	G	0.308	-0.969904	0.02232	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.34072	1.38;1.38;1.38	5.41	0.0579	0.14325	.	0.636430	0.13089	N	0.414673	T	0.26195	0.0639	L	0.44542	1.39	0.20873	N	0.999839	B;B;B	0.16166	0.001;0.007;0.016	B;B;B	0.17098	0.003;0.006;0.017	T	0.22800	-1.0206	10	0.52906	T	0.07	.	4.603	0.12363	0.2675:0.0:0.4099:0.3226	.	365;365;377	Q99996-2;Q99996-3;A4D1E4	.;.;.	H	365;377;377;377;377	ENSP00000348573:Q365H;ENSP00000351922:Q377H;ENSP00000350813:Q377H	ENSP00000348573:Q365H	Q	+	3	2	AKAP9	91468262	0.253000	0.23982	0.355000	0.25773	0.730000	0.41778	0.501000	0.22578	-0.208000	0.10171	-0.355000	0.07637	CAG		0.279	AKAP9-202	KNOWN	basic	protein_coding	protein_coding			NM_005751		3	14	0	0	0	0.004672	0	3	14		
TSC22D4	81628	broad.mit.edu	37	7	100075057	100075057	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr7:100075057T>A	ENST00000300181.2	-	2	1359	c.605A>T	c.(604-606)gAg>gTg	p.E202V	TSC22D4_ENST00000496728.1_5'UTR|TSC22D4_ENST00000393991.1_5'UTR	NM_030935.3	NP_112197.1	Q9Y3Q8	T22D4_HUMAN	TSC22 domain family, member 4	202					negative regulation of transcription, DNA-templated (GO:0045892)|response to osmotic stress (GO:0006970)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E202V(1)		breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCCCGCACTCTCACCGGTCTC	0.711																																						uc003uva.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(2)	2						c.(604-606)GAG>GTG		TSC22 domain family, member 4							14.0	15.0	14.0					7																	100075057		2200	4294	6494	SO:0001583	missense	81628				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:100075057T>A	BC010406	CCDS5695.1	7p21-p15	2010-04-30			ENSG00000166925	ENSG00000166925			21696	protein-coding gene	gene with protein product		611914					Standard	NM_030935		Approved	THG-1, TILZ2	uc003uva.3	Q9Y3Q8	OTTHUMG00000150233	ENST00000300181.2:c.605A>T	7.37:g.100075057T>A	ENSP00000300181:p.Glu202Val					TSC22D4_uc003uvb.2_5'UTR|TSC22D4_uc011kjv.1_5'UTR|TSC22D4_uc010lgx.2_Missense_Mutation_p.E202V|TSC22D4_uc003uvc.3_Missense_Mutation_p.E202V	p.E202V	NM_030935	NP_112197	Q9Y3Q8	T22D4_HUMAN			2	1360	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		202					A4D2C3|A8MWR6|D6W5V9	Missense_Mutation	SNP	ENST00000300181.2	37	c.605A>T	CCDS5695.1	.	.	.	.	.	.	.	.	.	.	T	10.20	1.283986	0.23392	.	.	ENSG00000166925	ENST00000300181	.	.	.	4.54	4.54	0.55810	.	0.319538	0.22178	N	0.063554	T	0.31482	0.0798	N	0.08118	0	0.80722	D	1	B;B	0.19331	0.035;0.02	B;B	0.22753	0.041;0.011	T	0.12426	-1.0548	9	0.33940	T	0.23	-5.1157	10.2661	0.43455	0.0:0.0:0.0:1.0	.	202;202	Q8IV54;Q9Y3Q8	.;T22D4_HUMAN	V	202	.	ENSP00000300181:E202V	E	-	2	0	TSC22D4	99912993	0.852000	0.29690	0.236000	0.24074	0.013000	0.08279	1.444000	0.35068	1.918000	0.55548	0.392000	0.25879	GAG		0.711	TSC22D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316970.1		NM_030935		11	13	0	0	0	0.008291	0	11	13		
SLC12A9	56996	broad.mit.edu	37	7	100458882	100458882	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr7:100458882C>G	ENST00000354161.3	+	10	1466	c.1341C>G	c.(1339-1341)ttC>ttG	p.F447L	SLC12A9_ENST00000540482.1_Missense_Mutation_p.F447L|SLC12A9_ENST00000428758.1_Missense_Mutation_p.F447L|SLC12A9_ENST00000415287.1_Missense_Mutation_p.F358L|SLC12A9_ENST00000275729.3_Missense_Mutation_p.F358L	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	447					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)	p.F447L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCCCCAACTTCCGGTGAGAGA	0.642																																						uc003uwp.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1339-1341)TTC>TTG		solute carrier family 12 (potassium/chloride							90.0	89.0	90.0					7																	100458882		2203	4300	6503	SO:0001583	missense	56996					integral to membrane|plasma membrane	cation:chloride symporter activity	g.chr7:100458882C>G	AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"""Solute carriers"""	17435	protein-coding gene	gene with protein product	"""cation-chloride cotransporter-interacting protein"""					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.1341C>G	7.37:g.100458882C>G	ENSP00000275730:p.Phe447Leu					SLC12A9_uc003uwq.2_Missense_Mutation_p.F358L|SLC12A9_uc011kki.1_5'UTR|SLC12A9_uc003uwr.2_Missense_Mutation_p.F183L|SLC12A9_uc003uws.2_5'UTR|SLC12A9_uc003uwt.2_Missense_Mutation_p.F183L|SLC12A9_uc003uwv.2_5'UTR	p.F447L	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN			10	1483	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		447			Cytoplasmic (Potential).		B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Missense_Mutation	SNP	ENST00000354161.3	37	c.1341C>G	CCDS5707.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.747567	0.89663	.	.	ENSG00000146828	ENST00000540482;ENST00000428758;ENST00000275729;ENST00000415287;ENST00000354161;ENST00000539308	D;D;D;D;D	0.98777	-5.13;-5.13;-5.13;-5.13;-5.13	5.0	3.21	0.36854	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.99233	0.9733	H	0.95294	3.65	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.79784	0.983;0.993	D	0.99164	1.0862	10	0.87932	D	0	.	9.0351	0.36282	0.0:0.8212:0.0:0.1788	.	358;447	Q9BXP2-2;Q9BXP2	.;S12A9_HUMAN	L	447;447;358;358;447;73	ENSP00000443702:F447L;ENSP00000408301:F447L;ENSP00000275729:F358L;ENSP00000413796:F358L;ENSP00000275730:F447L	ENSP00000275729:F358L	F	+	3	2	SLC12A9	100296818	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.812000	0.55628	0.701000	0.31803	0.561000	0.74099	TTC		0.642	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1		NM_020246		35	110	0	0	0	0.023175	0	35	110		
Unknown	0	broad.mit.edu	37	7	101989042	101989042	+	IGR	SNP	G	G	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr7:101989042G>T								Y_RNA (11660 upstream) : PRKRIP1 (15301 downstream)																							TGCGAGAGCGGTTCTTCCTAT	0.537																																						uc011kkp.1		NaN																	0					0						c.(829-831)AAC>AAA		speedy homolog E6							138.0	135.0	136.0					7																	101989042		692	1590	2282	SO:0001628	intergenic_variant	729597							g.chr7:101989042G>T																													7.37:g.101989042G>T						SPDYE6_uc003uzb.2_Missense_Mutation_p.N133K	p.N277K	NM_001146210	NP_001139682	P0CI01	SPDE6_HUMAN			6	1252	-			277			Arg-rich.			Missense_Mutation	SNP		37	c.831C>A																																																																																				0	0.537										51	447	1	0	2.00703e-41	0.01441	2.23838e-41	51	447		
DOCK4	9732	broad.mit.edu	37	7	111422961	111422961	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr7:111422961C>T	ENST00000437633.1	-	34	3773	c.3517G>A	c.(3517-3519)Gag>Aag	p.E1173K	DOCK4_ENST00000428084.1_Missense_Mutation_p.E1182K|DOCK4_ENST00000494651.2_Missense_Mutation_p.E56K	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1173					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)	p.E1173K(1)|p.E1170K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CCATCTACCTCTCCCATTTTC	0.388																																						uc003vfx.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4						c.(3517-3519)GAG>AAG		dedicator of cytokinesis 4							167.0	163.0	164.0					7																	111422961		1847	4079	5926	SO:0001583	missense	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111422961C>T		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.3517G>A	7.37:g.111422961C>T	ENSP00000404179:p.Glu1173Lys					DOCK4_uc011kml.1_Missense_Mutation_p.E54K|DOCK4_uc011kmm.1_Missense_Mutation_p.E80K|DOCK4_uc003vfw.2_Missense_Mutation_p.E623K|DOCK4_uc003vfy.2_Missense_Mutation_p.E1218K	p.E1173K	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN			34	3786	-		Acute lymphoblastic leukemia(1;0.0441)	1173			DHR-2.		O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	c.3517G>A	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	C	35	5.464604	0.96257	.	.	ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000494651;ENST00000437633;ENST00000342288;ENST00000437129;ENST00000450156;ENST00000417165	T;T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44;0.44	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.78381	0.4274	M	0.88906	2.99	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.79108	0.979;0.987;0.983;0.983;0.992	T	0.82218	-0.0566	10	0.87932	D	0	.	19.5645	0.95388	0.0:1.0:0.0:0.0	.	80;56;1218;1173;1182	B7Z2K9;F5GXW1;Q149N5;Q8N1I0;Q8N1I0-2	.;.;.;DOCK4_HUMAN;.	K	1161;1182;56;1173;1170;47;56;80	ENSP00000410746:E1182K;ENSP00000440944:E56K;ENSP00000404179:E1173K;ENSP00000406298:E47K;ENSP00000406468:E56K;ENSP00000403504:E80K	ENSP00000345432:E1170K	E	-	1	0	DOCK4	111210197	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.752000	0.85141	2.695000	0.91970	0.557000	0.71058	GAG		0.388	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4		NM_014705		24	73	0	0	0	0.014323	0	24	73		
TFEC	22797	broad.mit.edu	37	7	115580778	115580778	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr7:115580778C>G	ENST00000265440.7	-	8	1051	c.871G>C	c.(871-873)Gat>Cat	p.D291H	TFEC_ENST00000393485.1_3'UTR|TFEC_ENST00000457268.1_Missense_Mutation_p.D224H|TFEC_ENST00000320239.7_Missense_Mutation_p.D262H	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	291	Necessary for transcriptional transactivation.				cellular response to heat (GO:0034605)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.D291H(1)		NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			AATGATAAATCTGTGAAGTAT	0.433																																						uc003vhj.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(1)	1						c.(871-873)GAT>CAT		transcription factor EC isoform a							177.0	162.0	167.0					7																	115580778		2203	4300	6503	SO:0001583	missense	22797					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr7:115580778C>G	D43945	CCDS5762.1, CCDS34738.1, CCDS59076.1	7q31.2	2013-05-21			ENSG00000105967	ENSG00000105967		"""Basic helix-loop-helix proteins"""	11754	protein-coding gene	gene with protein product		604732				9256061	Standard	NM_012252		Approved	TCFEC, TFECL, bHLHe34	uc003vhj.2	O14948	OTTHUMG00000023518	ENST00000265440.7:c.871G>C	7.37:g.115580778C>G	ENSP00000265440:p.Asp291His					TFEC_uc003vhk.1_Missense_Mutation_p.D262H|TFEC_uc003vhl.3_3'UTR|TFEC_uc011kmw.1_3'UTR	p.D291H	NM_012252	NP_036384	O14948	TFEC_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		8	1055	-			291			Necessary for transcriptional transactivation.		B2R8X5|Q5H9U8|Q709A4|Q8N6J9	Missense_Mutation	SNP	ENST00000265440.7	37	c.871G>C	CCDS5762.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.365270	0.82463	.	.	ENSG00000105967	ENST00000265440;ENST00000457268;ENST00000320239	T;T;T	0.68025	-0.3;-0.3;-0.3	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.79592	0.4472	L	0.56396	1.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.994;1.0	T	0.75769	-0.3201	10	0.30078	T	0.28	-16.4765	19.2751	0.94029	0.0:1.0:0.0:0.0	.	262;291	O14948-2;O14948	.;TFEC_HUMAN	H	291;224;262	ENSP00000265440:D291H;ENSP00000387650:D224H;ENSP00000318676:D262H	ENSP00000265440:D291H	D	-	1	0	TFEC	115368014	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.395000	0.79876	2.559000	0.86315	0.650000	0.86243	GAT		0.433	TFEC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000059839.4		NM_012252		55	106	0	0	0	0.01441	0	55	106		
POT1	25913	broad.mit.edu	37	7	124475365	124475365	+	Silent	SNP	T	T	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr7:124475365T>A	ENST00000357628.3	-	15	2071	c.1473A>T	c.(1471-1473)ccA>ccT	p.P491P	POT1_ENST00000393329.1_Silent_p.P360P	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	491					DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)	p.P491P(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						GTATAAGAAATGGTGCTGAAA	0.358																																					Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)	uc003vlm.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	central_nervous_system(1)	1						c.(1471-1473)CCA>CCT		protection of telomeres 1 isoform 1							156.0	155.0	155.0					7																	124475365		2203	4300	6503	SO:0001819	synonymous_variant	25913				DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	g.chr7:124475365T>A	AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"""protection of telomeres 1 homolog (S. pombe)"""			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.1473A>T	7.37:g.124475365T>A						POT1_uc011koe.1_RNA|POT1_uc003vlk.2_RNA|POT1_uc003vll.2_RNA|POT1_uc003vlo.2_Silent_p.P360P|POT1_uc003vln.2_RNA	p.P491P	NM_015450	NP_056265	Q9NUX5	POTE1_HUMAN			15	2074	-			491					O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Silent	SNP	ENST00000357628.3	37	c.1473A>T	CCDS5793.1																																																																																				0.358	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347861.1				47	87	0	0	0	0.013114	0	47	87		
TAS2R39	259285	broad.mit.edu	37	7	142880972	142880972	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr7:142880972T>C	ENST00000446620.1	+	1	461	c.461T>C	c.(460-462)aTt>aCt	p.I154T		NM_176881.2	NP_795362.2	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	154					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)	p.I154T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					AGGTGGAGAATTACTGGATTG	0.433																																						uc011ksw.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(460-462)ATT>ACT		taste receptor, type 2, member 39							84.0	77.0	79.0					7																	142880972		1910	4126	6036	SO:0001583	missense	259285				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:142880972T>C	AF494230	CCDS47729.1	7q34	2012-08-22			ENSG00000236398	ENSG00000236398		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18886	protein-coding gene	gene with protein product						12379855	Standard	NM_176881		Approved		uc011ksw.2	P59534	OTTHUMG00000152636	ENST00000446620.1:c.461T>C	7.37:g.142880972T>C	ENSP00000405095:p.Ile154Thr						p.I154T	NM_176881	NP_795362	P59534	T2R39_HUMAN			1	461	+	Melanoma(164;0.059)		154			Cytoplasmic (Potential).		A4FUI7|Q3ZCN6|Q645W4	Missense_Mutation	SNP	ENST00000446620.1	37	c.461T>C	CCDS47729.1	.	.	.	.	.	.	.	.	.	.	T	15.47	2.842351	0.51057	.	.	ENSG00000236398	ENST00000446620	T	0.01076	5.37	4.86	3.68	0.42216	.	.	.	.	.	T	0.05914	0.0154	M	0.82056	2.57	0.36702	D	0.880189	D	0.76494	0.999	D	0.65987	0.94	T	0.09400	-1.0676	9	0.87932	D	0	.	11.2849	0.49216	0.0:0.0:0.153:0.8469	.	154	P59534	T2R39_HUMAN	T	154	ENSP00000405095:I154T	ENSP00000405095:I154T	I	+	2	0	TAS2R39	142591094	0.996000	0.38824	0.532000	0.27989	0.695000	0.40330	3.516000	0.53436	0.962000	0.38057	0.528000	0.53228	ATT		0.433	TAS2R39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327090.2		NM_176881		34	60	0	0	0	0.019004	0	34	60		
ZNF786	136051	broad.mit.edu	37	7	148769089	148769089	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr7:148769089G>A	ENST00000491431.1	-	4	839	c.775C>T	c.(775-777)Ctg>Ttg	p.L259L	ZNF786_ENST00000451334.3_Silent_p.L222L|ZNF786_ENST00000316286.9_Silent_p.L173L	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	259					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L258L(1)		breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TGGGCCGCCAGATGGCGCAGC	0.677																																						uc003wfh.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	breast(3)|skin(1)	4						c.(775-777)CTG>TTG		zinc finger protein 786							23.0	30.0	27.0					7																	148769089		2145	4253	6398	SO:0001819	synonymous_variant	136051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148769089G>A	AK095701, AL834510	CCDS47738.1	7q36.1	2013-01-08			ENSG00000197362	ENSG00000197362		"""Zinc fingers, C2H2-type"", ""-"""	21806	protein-coding gene	gene with protein product							Standard	NM_152411		Approved	DKFZp762I137	uc003wfh.2	Q8N393	OTTHUMG00000158975	ENST00000491431.1:c.775C>T	7.37:g.148769089G>A						ZNF786_uc011kuk.1_Silent_p.L222L|ZNF786_uc003wfi.2_Silent_p.L173L	p.L259L	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		4	912	-	Melanoma(164;0.15)		259			C2H2-type 2.		A1A568|B4DMI1	Silent	SNP	ENST00000491431.1	37	c.775C>T	CCDS47738.1																																																																																				0.677	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352751.1		NM_152411		10	19	0	0	0	0.006214	0	10	19		
SSPO	23145	broad.mit.edu	37	7	149508033	149508033	+	RNA	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr7:149508033C>T	ENST00000378016.2	+	0	9427							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCAGGACTGCCCCTGTGCCCA	0.617																																						uc010lpk.2		NaN																	0					0						c.(9427-9429)CCC>TCC		SCO-spondin precursor							50.0	57.0	54.0					7																	149508033		1979	4145	6124			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149508033C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149508033C>T							p.P3143S	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		67	9427	+	Melanoma(164;0.165)|Ovarian(565;0.177)		3143					Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37	c.9427C>T																																																																																					0.617	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript					13	24	0	0	0	0.016723	0	13	24		
SSPO	23145	broad.mit.edu	37	7	149509070	149509070	+	RNA	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr7:149509070C>T	ENST00000378016.2	+	0	9616							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCGGTGCCATCGGCACCGGTT	0.697																																						uc010lpk.2		NaN																	0					0						c.(9616-9618)CGG>TGG		SCO-spondin precursor							28.0	33.0	31.0					7																	149509070		2008	4156	6164			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149509070C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149509070C>T							p.R3206W	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		69	9616	+	Melanoma(164;0.165)|Ovarian(565;0.177)		3206			TSP type-1 11.		Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37	c.9616C>T																																																																																					0.697	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript					23	28	0	0	0	0.014323	0	23	28		
KMT2C	58508	broad.mit.edu	37	7	152027735	152027735	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;WGS			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr7:152027735C>T	ENST00000262189.6	-	3	558	c.340G>A	c.(340-342)Gag>Aag	p.E114K	KMT2C_ENST00000355193.2_Missense_Mutation_p.E114K	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	114					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E114K(2)									GCCGATTCCTCAGACACAGAT	0.433																																						uc003wla.2		NaN								N							medulloblastoma		2	Substitution - Missense(2)		urinary_tract(2)	large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(340-342)GAG>AAG		myeloid/lymphoid or mixed-lineage leukemia 3							221.0	204.0	209.0					7																	152027735		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:152027735C>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.340G>A	7.37:g.152027735C>T	ENSP00000262189:p.Glu114Lys						p.E114K	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	3	559	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	114					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.340G>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.134079	0.56828	.	.	ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000452749	D;D	0.83591	-1.74;-1.74	5.54	4.65	0.58169	.	0.139109	0.31797	N	0.007058	T	0.73055	0.3538	L	0.29908	0.895	0.80722	D	1	B	0.34103	0.437	B	0.27380	0.079	T	0.75897	-0.3155	10	0.56958	D	0.05	.	14.6599	0.68861	0.0:0.9288:0.0:0.0712	.	114	Q8NEZ4	MLL3_HUMAN	K	114;114;115	ENSP00000262189:E114K;ENSP00000347325:E114K	ENSP00000262189:E114K	E	-	1	0	MLL3	151658668	0.998000	0.40836	0.995000	0.50966	0.991000	0.79684	2.583000	0.46094	2.618000	0.88619	0.650000	0.86243	GAG		0.433	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3				17	84	0	0	0	0.006122	0	17	84		
DPP6	1804	broad.mit.edu	37	7	154561137	154561137	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr7:154561137G>A	ENST00000377770.3	+	9	1035	c.894G>A	c.(892-894)ttG>ttA	p.L298L	DPP6_ENST00000332007.3_Silent_p.L236L|DPP6_ENST00000404039.1_Silent_p.L234L|DPP6_ENST00000427557.1_Silent_p.L191L			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	298					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)	p.L298L(1)|p.L234L(1)|p.L236L(1)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			AGGAGATTTTGAAGACACACA	0.507																																					NSCLC(125;1384 1783 2490 7422 34254)	uc003wlk.2		NaN																	3	Substitution - coding silent(3)		urinary_tract(3)	pancreas(3)|breast(1)	4						c.(892-894)TTG>TTA		dipeptidyl-peptidase 6 isoform 1							92.0	92.0	92.0					7																	154561137		1991	4167	6158	SO:0001819	synonymous_variant	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154561137G>A	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.894G>A	7.37:g.154561137G>A						DPP6_uc003wli.2_Silent_p.L234L|DPP6_uc003wlm.2_Silent_p.L236L|DPP6_uc011kvq.1_Silent_p.L191L	p.L298L	NM_130797	NP_570629	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		9	1023	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	298			Extracellular (Potential).			Silent	SNP	ENST00000377770.3	37	c.894G>A																																																																																					0.507	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1		NM_130797		25	45	0	0	0	0.021523	0	25	45		
SPAG11B	10407	broad.mit.edu	37	8	7308697	7308697	+	Missense_Mutation	SNP	C	C	T	rs201164210		TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr8:7308697C>T	ENST00000297498.2	-	3	405	c.239G>A	c.(238-240)cGa>cAa	p.R80Q	SPAG11B_ENST00000361111.2_Intron|SPAG11B_ENST00000458665.1_Intron|SPAG11B_ENST00000359758.5_Intron|SPAG11B_ENST00000398462.2_Intron|SPAG11B_ENST00000528168.1_Missense_Mutation_p.R27Q	NM_016512.3	NP_057596.1	Q08648	SG11B_HUMAN	sperm associated antigen 11B	80					spermatogenesis (GO:0007283)	extracellular region (GO:0005576)		p.R80Q(1)		large_intestine(2)|lung(3)|urinary_tract(1)	6				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		TGAGGGTCCTCGAGCCTCCCG	0.468													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22446	0.0		0.0	False		,,,				2504	0.0					uc003wrk.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(238-240)CGA>CAA		sperm associated antigen 11B isoform A		C	GLN/ARG,,,,GLN/ARG,	6,4156		0,6,2075	76.0	91.0	86.0		239,,,,80,	-0.3	0.0	8		86	0,8380		0,0,4190	no	missense,intron,intron,intron,missense,intron	SPAG11B	NM_016512.3,NM_058200.2,NM_058201.2,NM_058202.2,NM_058206.3,NM_058207.2	43,,,,43,	0,6,6265	TT,TC,CC		0.0,0.1442,0.0478	,,,,,	80/104,,,,27/51,	7308697	6,12536	2081	4190	6271	SO:0001583	missense	10407				spermatogenesis	extracellular region		g.chr8:7308697C>T	AF168616	CCDS5964.1, CCDS5965.1, CCDS5966.1, CCDS5967.1, CCDS47774.1	8p23.1	2014-02-21	2007-03-15	2007-03-15	ENSG00000164871	ENSG00000164871			14534	protein-coding gene	gene with protein product	"""epididymal protein 2B"""	606560				8167223, 1693137	Standard	NM_058200		Approved	HE2, EP2, EP2C, EP2D, EDDM2B	uc003wrl.3	Q08648	OTTHUMG00000129219	ENST00000297498.2:c.239G>A	8.37:g.7308697C>T	ENSP00000297498:p.Arg80Gln					SPAG11B_uc003wrg.1_Intron|SPAG11B_uc003wrh.1_Intron|SPAG11B_uc003wri.2_Missense_Mutation_p.R27Q|SPAG11B_uc003wrj.2_Intron|SPAG11B_uc003wrl.2_Intron	p.R80Q	NM_016512	NP_057596	Q08648	SG11B_HUMAN		COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)	3	406	-			80					E9PFH0|Q546A0|Q6ZYB2|Q9H4P8|Q9H4P9|Q9H4Q0|Q9H4Q1|Q9H4Q2|Q9NRT3|Q9NRV4|Q9NRV5|Q9NRV6|Q9NRV7|Q9NRV8	Missense_Mutation	SNP	ENST00000297498.2	37	c.239G>A	CCDS5966.1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.601885	0.28534	0.001442	0.0	ENSG00000164871	ENST00000297498;ENST00000528168	T;T	0.53857	1.16;0.6	2.69	-0.272	0.12919	.	.	.	.	.	T	0.24851	0.0603	N	0.08118	0	0.09310	N	1	B;B	0.22604	0.043;0.072	B;B	0.12156	0.002;0.007	T	0.13737	-1.0498	9	0.27785	T	0.31	.	3.0352	0.06119	0.0:0.4779:0.2364:0.2857	.	80;27	Q08648;Q08648-2	SG11B_HUMAN;.	Q	80;27	ENSP00000297498:R80Q;ENSP00000431230:R27Q	ENSP00000297498:R80Q	R	-	2	0	SPAG11B	7296107	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.347000	0.07750	-0.071000	0.12886	0.454000	0.30748	CGA		0.468	SPAG11B-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251390.2		NM_058202, NM_058200, NM_058201, NM_016512, NM_058203, NM_058206, NM_058207		17	29	0	0	0	0.00499	0	17	29		
INTS10	55174	broad.mit.edu	37	8	19690831	19690831	+	Splice_Site	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr8:19690831G>C	ENST00000397977.3	+	12	1927	c.1529G>C	c.(1528-1530)aGa>aCa	p.R510T		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	510					snRNA processing (GO:0016180)	integrator complex (GO:0032039)		p.R510T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		GGGGAGTACAGAGTGAGTACT	0.577																																						uc003wzj.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1528-1530)AGA>ACA		integrator complex subunit 10							29.0	32.0	31.0					8																	19690831		2090	4228	6318	SO:0001630	splice_region_variant	55174				snRNA processing	integrator complex	protein binding	g.chr8:19690831G>C	AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"""chromosome 8 open reading frame 35"""	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.1530+1G>C	8.37:g.19690831G>C							p.R510T	NM_018142	NP_060612	Q9NVR2	INT10_HUMAN		Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)	12	1660	+			510					Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Missense_Mutation	SNP	ENST00000397977.3	37	c.1529G>C	CCDS6011.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.25|16.25	3.068939|3.068939	0.55539|0.55539	.|.	.|.	ENSG00000104613|ENSG00000104613	ENST00000518799|ENST00000397977	.|.	.|.	.|.	4.95|4.95	4.07|4.07	0.47477|0.47477	.|.	.|0.042857	.|0.85682	.|D	.|0.000000	T|T	0.68550|0.68550	0.3013|0.3013	L|L	0.50333|0.50333	1.59|1.59	0.53005|0.53005	D|D	0.999965|0.999965	.|D	.|0.61080	.|0.989	.|D	.|0.72625	.|0.978	T|T	0.69599|0.69599	-0.5102|-0.5102	5|9	.|0.54805	.|T	.|0.06	-16.254|-16.254	12.3993|12.3993	0.55404|0.55404	0.0828:0.0:0.9172:0.0|0.0828:0.0:0.9172:0.0	.|.	.|510	.|Q9NVR2	.|INT10_HUMAN	H|T	92|510	.|.	.|ENSP00000381064:R510T	Q|R	+|+	3|2	2|0	INTS10|INTS10	19735111|19735111	1.000000|1.000000	0.71417|0.71417	0.959000|0.959000	0.39883|0.39883	0.165000|0.165000	0.22458|0.22458	7.662000|7.662000	0.83803|0.83803	1.210000|1.210000	0.43336|0.43336	0.563000|0.563000	0.77884|0.77884	CAG|AGA		0.577	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2		NM_018142	Missense_Mutation	7	21	0	0	0	0.001984	0	7	21		
ADAM28	10863	broad.mit.edu	37	8	24178763	24178763	+	Silent	SNP	C	C	T	rs267601861		TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr8:24178763C>T	ENST00000265769.4	+	8	791	c.681C>T	c.(679-681)atC>atT	p.I227I	ADAM28_ENST00000437154.2_Silent_p.I227I|ADAM28_ENST00000397649.3_Intron|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000540823.1_5'UTR|RP11-624C23.1_ENST00000519689.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	227	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.I227I(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AAGATGAGATCAGAAAGAGGG	0.318																																					NSCLC(193;488 2149 22258 34798 40734)	uc003xdy.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(3)|lung(1)|central_nervous_system(1)	5						c.(679-681)ATC>ATT		ADAM metallopeptidase domain 28 isoform 1							123.0	128.0	126.0					8																	24178763		2203	4299	6502	SO:0001819	synonymous_variant	10863				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24178763C>T	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"""ADAM metallopeptidase domain containing"""	206	protein-coding gene	gene with protein product		606188	"""a disintegrin and metalloproteinase domain 28"""				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.681C>T	8.37:g.24178763C>T						ADAM28_uc003xdx.2_Silent_p.I227I|ADAM28_uc011kzz.1_5'UTR|ADAM28_uc011laa.1_Intron	p.I227I	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	8	764	+		Prostate(55;0.0959)	227			Peptidase M12B.|Extracellular (Potential).		B2RMV5|Q9Y339|Q9Y3S0	Silent	SNP	ENST00000265769.4	37	c.681C>T	CCDS34865.1																																																																																				0.318	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2		NM_021778		14	67	0	0	0	0.028581	0	14	67		
EPHX2	2053	broad.mit.edu	37	8	27398124	27398124	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr8:27398124G>A	ENST00000521400.1	+	15	1760	c.1330G>A	c.(1330-1332)Gag>Aag	p.E444K	EPHX2_ENST00000518379.1_Missense_Mutation_p.E412K|EPHX2_ENST00000380476.3_Missense_Mutation_p.E391K|EPHX2_ENST00000521780.1_Missense_Mutation_p.E378K|EPHX2_ENST00000517536.1_Missense_Mutation_p.E261K	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	444	Epoxide hydrolase.				arachidonic acid metabolic process (GO:0019369)|cellular calcium ion homeostasis (GO:0006874)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|inflammatory response (GO:0006954)|phospholipid dephosphorylation (GO:0046839)|positive regulation of gene expression (GO:0010628)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|regulation of blood pressure (GO:0008217)|regulation of cholesterol metabolic process (GO:0090181)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|stilbene catabolic process (GO:0046272)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	10-hydroxy-9-(phosphonooxy)octadecanoate phosphatase activity (GO:0033885)|epoxide hydrolase activity (GO:0004301)|lipid phosphatase activity (GO:0042577)|magnesium ion binding (GO:0000287)|phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxic substance binding (GO:0015643)	p.E444K(1)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)		GATGGTCACTGAGGAGGAAAT	0.502																																						uc003xfu.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1330-1332)GAG>AAG		epoxide hydrolase 2, cytoplasmic	Tamoxifen(DB00675)						98.0	97.0	98.0					8																	27398124		2203	4300	6503	SO:0001583	missense	2053				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity	g.chr8:27398124G>A	L05779	CCDS6060.1, CCDS59097.1, CCDS59098.1	8p21	2010-04-23			ENSG00000120915	ENSG00000120915	3.3.2.10		3402	protein-coding gene	gene with protein product		132811					Standard	NM_001979		Approved		uc003xfu.4	P34913	OTTHUMG00000102115	ENST00000521400.1:c.1330G>A	8.37:g.27398124G>A	ENSP00000430269:p.Glu444Lys					EPHX2_uc010luu.2_Missense_Mutation_p.E412K|EPHX2_uc010luv.2_Missense_Mutation_p.E378K|EPHX2_uc003xfv.2_Missense_Mutation_p.E391K|EPHX2_uc010luw.2_Missense_Mutation_p.E378K	p.E444K	NM_001979	NP_001970	P34913	HYES_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	15	1411	+		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)	444			Epoxide hydrolase.		B2Z3B1|B3KTU8|B3KUA0|G3V134|J3KPH7|Q16764|Q9HBJ1|Q9HBJ2	Missense_Mutation	SNP	ENST00000521400.1	37	c.1330G>A	CCDS6060.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.729164	0.89390	.	.	ENSG00000120915	ENST00000521400;ENST00000517536;ENST00000521780;ENST00000380476;ENST00000415449;ENST00000518379	T;T;T;T;T	0.61859	0.07;0.07;0.07;0.07;0.07	5.79	5.79	0.91817	Alpha/beta hydrolase fold-1 (1);	0.102700	0.64402	D	0.000003	T	0.74921	0.3780	M	0.82823	2.61	0.58432	D	0.999994	P;P	0.50943	0.94;0.85	P;P	0.58391	0.838;0.76	T	0.77403	-0.2601	10	0.59425	D	0.04	-30.2684	15.524	0.75887	0.0:0.0:1.0:0.0	.	412;444	E5RFU2;P34913	.;HYES_HUMAN	K	444;261;378;391;391;412	ENSP00000430269:E444K;ENSP00000428875:E261K;ENSP00000430302:E378K;ENSP00000369843:E391K;ENSP00000427956:E412K	ENSP00000369843:E391K	E	+	1	0	EPHX2	27454041	1.000000	0.71417	0.962000	0.40283	0.852000	0.48524	4.341000	0.59335	2.729000	0.93468	0.455000	0.32223	GAG		0.502	EPHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219954.4				24	34	0	0	0	0.01892	0	24	34		
MAK16	84549	broad.mit.edu	37	8	33346598	33346598	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr8:33346598G>A	ENST00000360128.6	+	5	790	c.333G>A	c.(331-333)caG>caA	p.Q111Q	TTI2_ENST00000519356.1_Intron	NM_032509.3	NP_115898.2	Q9BXY0	MAK16_HUMAN	MAK16 homolog (S. cerevisiae)	111						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.Q111Q(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	8						AATGTAAGCAGAGATTCACCA	0.353																																						uc003xjj.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(331-333)CAG>CAA		MAK16 homolog							111.0	108.0	109.0					8																	33346598		2203	4300	6503	SO:0001819	synonymous_variant	84549					nucleolus		g.chr8:33346598G>A	AF251062	CCDS6089.1	8p12	2011-10-13	2008-06-04	2008-06-04	ENSG00000198042	ENSG00000198042		"""RNA binding motif (RRM) containing"""	13703	protein-coding gene	gene with protein product			"""RNA binding motif protein 13"""	RBM13			Standard	NM_032509		Approved	MAK16L	uc003xjj.3	Q9BXY0	OTTHUMG00000163957	ENST00000360128.6:c.333G>A	8.37:g.33346598G>A						C8orf41_uc010lvu.1_Intron	p.Q111Q	NM_032509	NP_115898	Q9BXY0	MAK16_HUMAN			5	373	+			111					B2RB44|Q5U5T1|Q86UC4|Q96SY6	Silent	SNP	ENST00000360128.6	37	c.333G>A	CCDS6089.1																																																																																				0.353	MAK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376559.3		NM_032509		40	60	0	0	0	0.023175	0	40	60		
RAB11FIP1	80223	broad.mit.edu	37	8	37729146	37729146	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr8:37729146C>G	ENST00000330843.4	-	4	3186	c.3174G>C	c.(3172-3174)aaG>aaC	p.K1058N	RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000287263.4_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	1058					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)		p.K1058N(1)		NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			AGCTTGAGCTCTTGCCAAGAT	0.557																																						uc003xkm.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(3172-3174)AAG>AAC		RAB11 family interacting protein 1 isoform 3							84.0	96.0	92.0					8																	37729146		2203	4300	6503	SO:0001583	missense	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37729146C>G	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.3174G>C	8.37:g.37729146C>G	ENSP00000331342:p.Lys1058Asn					RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_Missense_Mutation_p.K387N|RAB11FIP1_uc003xko.1_Missense_Mutation_p.K387N|RAB11FIP1_uc003xkp.1_Intron	p.K1058N	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		4	3218	-		Lung NSC(58;0.118)|all_lung(54;0.195)	1058					J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	ENST00000330843.4	37	c.3174G>C	CCDS34882.1	.	.	.	.	.	.	.	.	.	.	C	13.28	2.188730	0.38609	.	.	ENSG00000156675	ENST00000330843	T	0.14640	2.49	4.63	1.51	0.23008	.	1.140920	0.06516	N	0.738915	T	0.11879	0.0289	L	0.36672	1.1	0.09310	N	0.999995	P;B	0.46512	0.879;0.244	P;B	0.45449	0.481;0.107	T	0.24261	-1.0165	10	0.20519	T	0.43	-2.2004	2.7409	0.05253	0.1651:0.5236:0.1613:0.15	.	387;1058	Q67C35;Q6WKZ4	.;RFIP1_HUMAN	N	1058	ENSP00000331342:K1058N	ENSP00000331342:K1058N	K	-	3	2	RAB11FIP1	37848304	0.000000	0.05858	0.069000	0.20011	0.029000	0.11900	0.259000	0.18405	1.025000	0.39708	0.655000	0.94253	AAG		0.557	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1		NM_025151		56	98	0	0	0	0.01441	0	56	98		
FGFR1	2260	broad.mit.edu	37	8	38271717	38271717	+	Silent	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr8:38271717C>T	ENST00000447712.2	-	16	3080	c.2139G>A	c.(2137-2139)ctG>ctA	p.L713L	FGFR1_ENST00000397091.5_Silent_p.L711L|FGFR1_ENST00000356207.5_Silent_p.L624L|FGFR1_ENST00000341462.5_Silent_p.L713L|FGFR1_ENST00000335922.5_Silent_p.L703L|FGFR1_ENST00000397113.2_Silent_p.L711L|FGFR1_ENST00000397103.1_Silent_p.L624L|FGFR1_ENST00000532791.1_Silent_p.L711L|FGFR1_ENST00000397108.4_Silent_p.L711L|FGFR1_ENST00000425967.3_Silent_p.L744L|FGFR1_ENST00000326324.6_Silent_p.L622L	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	713	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.L713L(2)|p.L703L(1)|p.?(1)	FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	GACCCTCCTTCAGCAGCTTGA	0.607		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""																														Melanoma(146;1153 1840 21453 21841 43625)	uc003xlp.2		1		Dom	yes		8	8p11.2-p11.1	2260	T	fibroblast growth factor receptor 1	yes	Pfeiffer syndrome|Kallman syndrome	L	BCR|FOP|ZNF198|CEP1		MPD|NHL		4	Substitution - coding silent(3)|Unknown(1)		urinary_tract(4)	lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1)	15						c.(2137-2139)CTG>CTA		fibroblast growth factor receptor 1 isoform 1	Palifermin(DB00039)						65.0	70.0	69.0					8																	38271717		2174	4294	6468	SO:0001819	synonymous_variant	2260				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity	g.chr8:38271717C>T	M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3688	protein-coding gene	gene with protein product	"""Pfeiffer syndrome"""	136350	"""fms-related tyrosine kinase 2"""	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.2139G>A	8.37:g.38271717C>T						FGFR1_uc010lwf.2_RNA|FGFR1_uc011lbo.1_Silent_p.L711L|FGFR1_uc011lbp.1_Silent_p.L624L|FGFR1_uc011lbq.1_Silent_p.L622L|FGFR1_uc010lwk.2_Silent_p.L703L	p.L713L	NM_023110	NP_075598	P11362	FGFR1_HUMAN	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		17	3081	-	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	713			Cytoplasmic (Potential).|Protein kinase.		A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Silent	SNP	ENST00000447712.2	37	c.2139G>A	CCDS6107.2																																																																																				0.607	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding					22	28	0	0	0	0.010504	0	22	28		
PREX2	80243	broad.mit.edu	37	8	69046488	69046488	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr8:69046488C>T	ENST00000288368.4	+	32	4238	c.3961C>T	c.(3961-3963)Cag>Tag	p.Q1321*		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1321					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.Q1321*(1)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TTTTCACTTTCAGTCACTTCT	0.438																																						uc003xxv.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						c.(3961-3963)CAG>TAG		DEP domain containing 2 isoform a							106.0	88.0	94.0					8																	69046488		2203	4300	6503	SO:0001587	stop_gained	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:69046488C>T	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.3961C>T	8.37:g.69046488C>T	ENSP00000288368:p.Gln1321*						p.Q1321*	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN			32	3988	+			1321					B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Nonsense_Mutation	SNP	ENST00000288368.4	37	c.3961C>T	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	C	46	12.686721	0.99688	.	.	ENSG00000046889	ENST00000288368	.	.	.	5.58	5.58	0.84498	.	0.147134	0.47852	D	0.000219	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.5799	0.95461	0.0:1.0:0.0:0.0	.	.	.	.	X	1321	.	ENSP00000288368:Q1321X	Q	+	1	0	PREX2	69209042	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.487000	0.81328	2.642000	0.89623	0.655000	0.94253	CAG		0.438	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1		NM_025170		17	25	0	0	0	0.012319	0	17	25		
ZFHX4	79776	broad.mit.edu	37	8	77767490	77767490	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr8:77767490C>T	ENST00000521891.2	+	10	8781	c.8333C>T	c.(8332-8334)tCt>tTt	p.S2778F	ZFHX4_ENST00000050961.6_Missense_Mutation_p.S2733F|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S2752F|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S2733F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2733					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)	p.S2762F(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCAGAGTGTTCTGAGGATGTA	0.403										HNSCC(33;0.089)																												uc003yav.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(8197-8199)TCT>TTT		zinc finger homeodomain 4							35.0	34.0	34.0					8																	77767490		1847	4107	5954	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77767490C>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.8333C>T	8.37:g.77767490C>T	ENSP00000430497:p.Ser2778Phe	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.S2778F|ZFHX4_uc003yaw.1_Missense_Mutation_p.S2733F	p.S2733F	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	8585	+			2733					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.8198C>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	0.142	-1.101586	0.01828	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.48522	0.81;0.85;0.82;0.82	4.97	4.97	0.65823	.	0.854761	0.09680	U	0.769862	T	0.41971	0.1182	L	0.43152	1.355	0.09310	N	0.99999	B;B;B	0.31893	0.078;0.127;0.345	B;B;B	0.34873	0.094;0.191;0.134	T	0.25257	-1.0137	10	0.32370	T	0.25	.	8.8675	0.35296	0.1412:0.5888:0.2699:0.0	.	2733;2733;2778	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	F	2778;2762;2733;2733;2752	ENSP00000430497:S2778F;ENSP00000399605:S2733F;ENSP00000050961:S2733F;ENSP00000430848:S2752F	ENSP00000050961:S2733F	S	+	2	0	ZFHX4	77930045	0.990000	0.36364	0.045000	0.18777	0.042000	0.13812	4.653000	0.61462	2.583000	0.87209	0.555000	0.69702	TCT		0.403	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2		NM_024721		13	18	0	0	0	0.020292	0	13	18		
FBXO43	286151	broad.mit.edu	37	8	101153669	101153669	+	Silent	SNP	T	T	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr8:101153669T>C	ENST00000428847.2	-	2	1129	c.813A>G	c.(811-813)ttA>ttG	p.L271L		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	271					meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.L237L(2)|p.L271L(1)		endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			CATTAATGCATAAACTGCTAT	0.383																																						uc003yjd.2		NaN																	3	Substitution - coding silent(3)		urinary_tract(3)	kidney(1)|skin(1)	2						c.(811-813)TTA>TTG		F-box protein 43 isoform b							29.0	29.0	29.0					8																	101153669		1888	4110	5998	SO:0001819	synonymous_variant	286151				meiosis		zinc ion binding	g.chr8:101153669T>C	BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"""F-boxes /  ""other"""""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.813A>G	8.37:g.101153669T>C						FBXO43_uc003yje.2_Silent_p.L237L|FBXO43_uc010mbp.1_Silent_p.L271L	p.L271L	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)		2	1526	-	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		271						Silent	SNP	ENST00000428847.2	37	c.813A>G	CCDS47904.1																																																																																				0.383	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380380.1		XM_209918		19	38	0	0	0	0.006122	0	19	38		
EIF3E	3646	broad.mit.edu	37	8	109228656	109228656	+	Silent	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr8:109228656C>T	ENST00000220849.5	-	9	998	c.936G>A	c.(934-936)ctG>ctA	p.L312L	EIF3E_ENST00000519030.1_Silent_p.L219L|EIF3E_ENST00000519517.1_5'UTR	NM_001568.2	NP_001559.1			eukaryotic translation initiation factor 3, subunit E									p.L312L(1)	EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			CACATTCCCTCAGCTTTTTCT	0.289																																					GBM(15;360 410 8460 34179 52246)	uc003ymu.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|kidney(1)	3						c.(934-936)CTG>CTA		eukaryotic translation initiation factor 3,							69.0	72.0	71.0					8																	109228656		2201	4298	6499	SO:0001819	synonymous_variant	3646				negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|eukaryotic translation initiation factor 3 complex|PML body	protein N-terminus binding	g.chr8:109228656C>T	U94175	CCDS6308.1	8q22-q23	2010-03-10	2007-07-27	2007-07-27	ENSG00000104408	ENSG00000104408			3277	protein-coding gene	gene with protein product		602210	"""eukaryotic translation initiation factor 3, subunit 6 48kDa"""	INT6, EIF3S6		9403073, 9295280	Standard	NM_001568		Approved	eIF3-p48, eIF3e	uc003ymu.3	P60228	OTTHUMG00000164858	ENST00000220849.5:c.936G>A	8.37:g.109228656C>T						EIF3E_uc003ymt.2_Silent_p.L263L|EIF3E_uc003ymv.2_Silent_p.L219L|EIF3E_uc010mci.1_Silent_p.L312L	p.L312L	NM_001568	NP_001559	P60228	EIF3E_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)		9	964	-			312	L->D: Promotes nuclear accumulation.		PCI.			Silent	SNP	ENST00000220849.5	37	c.936G>A	CCDS6308.1																																																																																				0.289	EIF3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380612.2		NM_001568		9	47	0	0	0	0.006214	0	9	47		
EXT1	2131	broad.mit.edu	37	8	118816983	118816983	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr8:118816983T>A	ENST00000378204.2	-	10	2839	c.2033A>T	c.(2032-2034)tAt>tTt	p.Y678F		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	678					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)	p.Y678F(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			TGTCTCCTTATACTGCTTCTT	0.478			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses																													uc003yok.1		NaN	yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	Mis|N|F|S	multiple exostoses type 1 gene			M		exostoses|osteosarcoma			1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|lung(2)	4						c.(2032-2034)TAT>TTT		exostosin 1							214.0	204.0	208.0					8																	118816983		2203	4300	6503	SO:0001583	missense	2131	Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity	g.chr8:118816983T>A	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3512	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608177	"""Langer-Giedion syndrome chromosome region"", ""exostoses (multiple) 1"", ""exostosin 1"""	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.2033A>T	8.37:g.118816983T>A	ENSP00000367446:p.Tyr678Phe						p.Y678F	NM_000127	NP_000118	Q16394	EXT1_HUMAN	STAD - Stomach adenocarcinoma(47;0.012)		10	2806	-	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		678			Lumenal (Potential).		B2R7V2|Q9BVI9	Missense_Mutation	SNP	ENST00000378204.2	37	c.2033A>T	CCDS6324.1	.	.	.	.	.	.	.	.	.	.	t	34	5.408491	0.96051	.	.	ENSG00000182197	ENST00000378204	D	0.85773	-2.03	5.68	5.68	0.88126	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.86822	0.6025	L	0.42744	1.35	0.80722	D	1	D	0.67145	0.996	D	0.66497	0.944	T	0.82692	-0.0331	10	0.02654	T	1	-8.4281	15.9321	0.79672	0.0:0.0:0.0:1.0	.	678	Q16394	EXT1_HUMAN	F	678	ENSP00000367446:Y678F	ENSP00000367446:Y678F	Y	-	2	0	EXT1	118886164	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.036000	0.88901	2.160000	0.67779	0.477000	0.44152	TAT		0.478	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132768.3		NM_000127		31	58	0	0	0	0.008361	0	31	58		
TIGD5	84948	broad.mit.edu	37	8	144681868	144681868	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr8:144681868C>G	ENST00000504548.2	+	1	1795	c.1795C>G	c.(1795-1797)Ctg>Gtg	p.L599V	EEF1D_ENST00000529272.1_5'Flank|EEF1D_ENST00000395119.3_5'Flank|EEF1D_ENST00000532400.1_5'Flank|EEF1D_ENST00000419152.2_5'Flank|EEF1D_ENST00000423316.2_5'Flank|RP11-661A12.14_ENST00000606452.1_lincRNA|EEF1D_ENST00000317198.6_5'Flank|EEF1D_ENST00000528610.1_5'Flank|TIGD5_ENST00000321385.3_Missense_Mutation_p.L550V|EEF1D_ENST00000531621.1_5'Flank|EEF1D_ENST00000531770.1_5'Flank|EEF1D_ENST00000526838.1_5'Flank|EEF1D_ENST00000442189.2_5'Flank|EEF1D_ENST00000524624.1_5'Flank	NM_032862.4	NP_116251.4	Q53EQ6	TIGD5_HUMAN	tigger transposable element derived 5	599						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L550V(1)		NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			AGAAACAGCTCTGCGGTGGCT	0.687																																						uc003yyx.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1648-1650)CTG>GTG		tigger transposable element derived 5							16.0	19.0	18.0					8																	144681868		2182	4285	6467	SO:0001583	missense	84948				regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding	g.chr8:144681868C>G	AK027832	CCDS6406.1, CCDS6406.2	8q24.3	2008-02-01				ENSG00000179886			18336	protein-coding gene	gene with protein product							Standard	NM_032862		Approved	FLJ14926	uc003yyx.2	Q53EQ6		ENST00000504548.2:c.1795C>G	8.37:g.144681868C>G	ENSP00000421489:p.Leu599Val					EEF1D_uc011lki.1_5'Flank|EEF1D_uc011lkj.1_5'Flank|EEF1D_uc003yyr.2_5'Flank|EEF1D_uc003yyt.2_5'Flank|EEF1D_uc011lkk.1_5'Flank|EEF1D_uc003yys.2_5'Flank|EEF1D_uc003yyv.2_5'Flank|EEF1D_uc003yyu.2_5'Flank|EEF1D_uc011lkl.1_5'Flank	p.L550V	NM_032862	NP_116251	Q53EQ6	TIGD5_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		1	1648	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		599					E7EWS2|Q6NT83|Q8N5A1|Q96JW8	Missense_Mutation	SNP	ENST00000504548.2	37	c.1648C>G	CCDS6406.2	.	.	.	.	.	.	.	.	.	.	C	10.22	1.288925	0.23478	.	.	ENSG00000179886	ENST00000504548;ENST00000321385	T;T	0.49720	0.77;0.85	4.98	2.18	0.27775	.	0.000000	0.36444	U	0.002588	T	0.46483	0.1395	L	0.29908	0.895	0.21652	N	0.99961	D	0.67145	0.996	P	0.58820	0.846	T	0.31558	-0.9939	10	0.31617	T	0.26	.	9.6035	0.39619	0.0:0.6964:0.0:0.3036	.	550	Q53EQ6	TIGD5_HUMAN	V	599;550	ENSP00000421489:L599V;ENSP00000315906:L550V	ENSP00000315906:L550V	L	+	1	2	TIGD5	144753011	0.295000	0.24389	0.745000	0.31077	0.285000	0.27093	1.109000	0.31135	0.514000	0.28300	-0.136000	0.14681	CTG		0.687	TIGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368269.1		NM_032862		7	11	0	0	0	0.00308	0	7	11		
JAK2	3717	broad.mit.edu	37	9	5089767	5089767	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr9:5089767G>A	ENST00000381652.3	+	20	3159	c.2665G>A	c.(2665-2667)Gaa>Aaa	p.E889K	JAK2_ENST00000539801.1_Missense_Mutation_p.E889K|JAK2_ENST00000544510.1_Missense_Mutation_p.E740K	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	889	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)	p.E889K(1)	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	GCATAGTACTGAAGAGCACCT	0.448		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																													uc010mhm.2		1		Dom	yes		9	9p24	3717	T|Mis|O	Janus kinase 2			L	ETV6|PCM1|BCR		ALL|AML|MPD| CML	PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)	1	Substitution - Missense(1)		urinary_tract(1)	haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1)	28641						c.(2665-2667)GAA>AAA		Janus kinase 2							126.0	113.0	117.0					9																	5089767		2203	4300	6503	SO:0001583	missense	3717	Polycythemia_Vera_Familial	Familial Cancer Database		actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding	g.chr9:5089767G>A		CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.2665G>A	9.37:g.5089767G>A	ENSP00000371067:p.Glu889Lys					JAK2_uc003ziw.2_Missense_Mutation_p.E889K	p.E889K	NM_004972	NP_004963	O60674	JAK2_HUMAN		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	19	2778	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)	889			Protein kinase 2.		O14636|O75297	Missense_Mutation	SNP	ENST00000381652.3	37	c.2665G>A	CCDS6457.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.649786	0.29336	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	D;D;D	0.82803	-1.65;-1.65;-1.65	5.28	5.28	0.74379	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.151144	0.64402	D	0.000017	T	0.71651	0.3365	N	0.16862	0.45	0.53688	D	0.999974	B	0.31290	0.318	B	0.32928	0.155	T	0.68823	-0.5307	10	0.07813	T	0.8	-19.4547	18.9036	0.92452	0.0:0.0:1.0:0.0	.	889	O60674	JAK2_HUMAN	K	889;889;740	ENSP00000440387:E889K;ENSP00000371067:E889K;ENSP00000443103:E740K	ENSP00000371067:E889K	E	+	1	0	JAK2	5079767	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.212000	0.77941	2.457000	0.83068	0.650000	0.86243	GAA		0.448	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1				21	12	0	0	0	0.014323	0	21	12		
TRPM3	80036	broad.mit.edu	37	9	73233873	73233873	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr9:73233873G>A	ENST00000377111.2	-	16	2475	c.2232C>T	c.(2230-2232)caC>caT	p.H744H	TRPM3_ENST00000377105.1_Silent_p.H603H|TRPM3_ENST00000377110.3_Silent_p.H744H|TRPM3_ENST00000360823.2_Silent_p.H606H|TRPM3_ENST00000396292.4_Silent_p.H616H|TRPM3_ENST00000408909.2_Silent_p.H603H|TRPM3_ENST00000377106.1_Silent_p.H616H|TRPM3_ENST00000358082.3_Silent_p.H606H|TRPM3_ENST00000396285.1_Silent_p.H591H|TRPM3_ENST00000423814.3_Silent_p.H771H|TRPM3_ENST00000396280.5_Silent_p.H593H|TRPM3_ENST00000357533.2_Silent_p.H748H	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	769					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)	p.H616H(1)|p.H748H(1)|p.H744H(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TGAAGTCGCGGTGTTTGGCAG	0.612																																						uc004aid.2		NaN																	3	Substitution - coding silent(3)		urinary_tract(3)	ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						c.(2230-2232)CAC>CAT		transient receptor potential cation channel,							97.0	71.0	80.0					9																	73233873		2203	4300	6503	SO:0001819	synonymous_variant	80036					integral to membrane	calcium channel activity	g.chr9:73233873G>A	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.2232C>T	9.37:g.73233873G>A						TRPM3_uc004ahu.2_Silent_p.H574H|TRPM3_uc004ahv.2_Silent_p.H546H|TRPM3_uc004ahw.2_Silent_p.H616H|TRPM3_uc004ahx.2_Silent_p.H603H|TRPM3_uc004ahy.2_Silent_p.H606H|TRPM3_uc004ahz.2_Silent_p.H593H|TRPM3_uc004aia.2_Silent_p.H591H|TRPM3_uc004aib.2_Silent_p.H581H|TRPM3_uc004aic.2_Silent_p.H744H	p.H744H	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN			16	2476	-			769			Cytoplasmic (Potential).		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Silent	SNP	ENST00000377111.2	37	c.2232C>T		.	.	.	.	.	.	.	.	.	.	G	9.972	1.225770	0.22542	.	.	ENSG00000083067	ENST00000396280	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	T	0.61702	0.2368	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58132	-0.7690	4	.	.	.	-25.8891	10.2558	0.43397	0.1438:0.0:0.8562:0.0	.	.	.	.	S	593	.	.	P	-	1	0	TRPM3	72423693	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.311000	0.51919	2.941000	0.99782	0.655000	0.94253	CCG		0.612	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5		NM_206945		18	13	0	0	0	0.006122	0	18	13		
ECM2	1842	broad.mit.edu	37	9	95274343	95274343	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr9:95274343G>A	ENST00000344604.5	-	5	1269	c.1120C>T	c.(1120-1122)Ctg>Ttg	p.L374L	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Silent_p.L352L	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	374					cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.L374L(1)|p.L352L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						TTTTTACTCAGATCAAGCCTT	0.393																																						uc004ash.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(1)|skin(1)	2						c.(1120-1122)CTG>TTG		extracellular matrix protein 2 precursor							182.0	165.0	171.0					9																	95274343		2203	4300	6503	SO:0001819	synonymous_variant	1842				cell-matrix adhesion		integrin binding	g.chr9:95274343G>A	AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823			3154	protein-coding gene	gene with protein product	"""matrix glycoprotein SC1/ECM2"""	603479				9790758	Standard	NM_001393		Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.1120C>T	9.37:g.95274343G>A						CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ECM2_uc004asf.3_Silent_p.L352L|ECM2_uc011lty.1_Silent_p.L374L|ECM2_uc004asg.2_Silent_p.L352L	p.L374L	NM_001393	NP_001384	O94769	ECM2_HUMAN			5	1185	-			374			LRR 1.		B2R730|E2PU11|Q5T9F2|Q7Z3D0	Silent	SNP	ENST00000344604.5	37	c.1120C>T	CCDS6698.1																																																																																				0.393	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053091.1		NM_001393		35	15	0	0	0	0.025465	0	35	15		
CTNNAL1	8727	broad.mit.edu	37	9	111741687	111741687	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr9:111741687G>C	ENST00000325551.4	-	7	1061	c.975C>G	c.(973-975)atC>atG	p.I325M	CTNNAL1_ENST00000325580.6_Missense_Mutation_p.I325M|CTNNAL1_ENST00000488130.1_5'Flank|CTNNAL1_ENST00000374595.4_Missense_Mutation_p.I325M	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	325					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)	p.I325M(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		TACGCTCCAAGATGACTTCCA	0.443																																						uc004bdo.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(973-975)ATC>ATG		catenin, alpha-like 1							142.0	126.0	131.0					9																	111741687		2203	4300	6503	SO:0001583	missense	8727				cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity	g.chr9:111741687G>C	AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"""alpha-catulin"", ""alpha2-catulin"""	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.975C>G	9.37:g.111741687G>C	ENSP00000320434:p.Ile325Met					CTNNAL1_uc010mts.1_Missense_Mutation_p.I61M|CTNNAL1_uc010mtt.1_Missense_Mutation_p.I325M|CTNNAL1_uc004bdp.1_Missense_Mutation_p.I325M	p.I325M	NM_003798	NP_003789	Q9UBT7	CTNL1_HUMAN		STAD - Stomach adenocarcinoma(157;0.0768)	7	1017	-			325					B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Missense_Mutation	SNP	ENST00000325551.4	37	c.975C>G	CCDS6775.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.873959	0.33069	.	.	ENSG00000119326	ENST00000374595;ENST00000325551;ENST00000325580	T;T;T	0.42513	0.97;1.1;1.0	5.91	0.878	0.19150	.	0.350989	0.32884	N	0.005537	T	0.49201	0.1543	M	0.66939	2.045	0.33631	D	0.606013	P;D;P;P	0.59357	0.627;0.985;0.745;0.627	B;P;P;B	0.57468	0.34;0.821;0.459;0.34	T	0.58418	-0.7640	10	0.56958	D	0.05	-0.5258	5.5829	0.17260	0.3682:0.1303:0.5016:0.0	.	325;325;325;325	B2RBI4;Q9UBT7-3;Q9UBT7-2;Q9UBT7	.;.;.;CTNL1_HUMAN	M	325	ENSP00000363723:I325M;ENSP00000320434:I325M;ENSP00000323351:I325M	ENSP00000320434:I325M	I	-	3	3	CTNNAL1	110781508	1.000000	0.71417	0.105000	0.21289	0.744000	0.42396	0.810000	0.27183	0.117000	0.18138	0.655000	0.94253	ATC		0.443	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053577.1		NM_003798		25	20	0	0	0	0.027356	0	25	20		
ENTPD2	954	broad.mit.edu	37	9	139945381	139945381	+	Silent	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr9:139945381G>C	ENST00000355097.2	-	5	794	c.747C>G	c.(745-747)ctC>ctG	p.L249L	RP11-229P13.15_ENST00000439076.1_RNA|ENTPD2_ENST00000460614.1_5'Flank|ENTPD2_ENST00000312665.5_Silent_p.L249L	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	249					G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)	p.L249L(1)		endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCAGCCTCTGGAGGACCTGGT	0.647																																						uc004ckw.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(745-747)CTC>CTG		ectonucleoside triphosphate diphosphohydrolase 2							54.0	45.0	48.0					9																	139945381		2198	4298	6496	SO:0001819	synonymous_variant	954					integral to membrane	ATP binding	g.chr9:139945381G>C	U91510	CCDS7025.1, CCDS7026.1	9q34	2008-07-21			ENSG00000054179	ENSG00000054179			3364	protein-coding gene	gene with protein product	"""CD39-like-1"", ""ecto-ATPase"""	602012		CD39L1		9271669	Standard	NM_203468		Approved	NTPDase-2	uc004ckw.2	Q9Y5L3	OTTHUMG00000020953	ENST00000355097.2:c.747C>G	9.37:g.139945381G>C						ENTPD2_uc004ckv.1_5'Flank|ENTPD2_uc004ckx.1_Silent_p.L249L	p.L249L	NM_203468	NP_982293	Q9Y5L3	ENTP2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	5	803	-	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	249			Extracellular (Potential).		O15464|Q5SPY6|Q5SPY7	Silent	SNP	ENST00000355097.2	37	c.747C>G	CCDS7026.1																																																																																				0.647	ENTPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055169.1		NM_203468		8	14	0	0	0	0.00308	0	8	14		
ENTPD2	954	broad.mit.edu	37	9	139945964	139945964	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr9:139945964G>A	ENST00000355097.2	-	3	431	c.384C>T	c.(382-384)ctC>ctT	p.L128L	RP11-229P13.15_ENST00000439076.1_RNA|ENTPD2_ENST00000460614.1_5'Flank|ENTPD2_ENST00000312665.5_Silent_p.L128L	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	128					G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)	p.L128L(1)		endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		ACACTCACTTGAGCAGGCGCA	0.637																																						uc004ckw.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(382-384)CTC>CTT		ectonucleoside triphosphate diphosphohydrolase 2							66.0	64.0	65.0					9																	139945964		2201	4300	6501	SO:0001819	synonymous_variant	954					integral to membrane	ATP binding	g.chr9:139945964G>A	U91510	CCDS7025.1, CCDS7026.1	9q34	2008-07-21			ENSG00000054179	ENSG00000054179			3364	protein-coding gene	gene with protein product	"""CD39-like-1"", ""ecto-ATPase"""	602012		CD39L1		9271669	Standard	NM_203468		Approved	NTPDase-2	uc004ckw.2	Q9Y5L3	OTTHUMG00000020953	ENST00000355097.2:c.384C>T	9.37:g.139945964G>A						ENTPD2_uc004ckv.1_5'Flank|ENTPD2_uc004ckx.1_Silent_p.L128L	p.L128L	NM_203468	NP_982293	Q9Y5L3	ENTP2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	3	440	-	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	128			Extracellular (Potential).		O15464|Q5SPY6|Q5SPY7	Silent	SNP	ENST00000355097.2	37	c.384C>T	CCDS7026.1																																																																																				0.637	ENTPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055169.1		NM_203468		13	25	0	0	0	0.020292	0	13	25		
GRIN1	2902	broad.mit.edu	37	9	140058079	140058079	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr9:140058079G>C	ENST00000371561.3	+	17	3499	c.2402G>C	c.(2401-2403)cGc>cCc	p.R801P	GRIN1_ENST00000371555.4_Missense_Mutation_p.R822P|GRIN1_ENST00000371553.3_Missense_Mutation_p.R822P|GRIN1_ENST00000371560.3_Missense_Mutation_p.R822P|GRIN1_ENST00000350902.5_Missense_Mutation_p.R801P|GRIN1_ENST00000371546.4_Missense_Mutation_p.R822P|GRIN1_ENST00000371550.4_Missense_Mutation_p.R801P|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371559.4_Missense_Mutation_p.R801P|GRIN1_ENST00000315048.3_Missense_Mutation_p.R801P	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	801					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)	p.R801P(1)		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)	TGTGACTCGCGCAGCAACGCC	0.602																																					NSCLC(113;717 1653 2089 20474 37618)	uc004clk.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(2401-2403)CGC>CCC		NMDA receptor 1 isoform NR1-3 precursor	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)						98.0	83.0	88.0					9																	140058079		2203	4300	6503	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.chr9:140058079G>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.2402G>C	9.37:g.140058079G>C	ENSP00000360616:p.Arg801Pro					GRIN1_uc004cli.1_Missense_Mutation_p.R476P|GRIN1_uc004clj.1_Missense_Mutation_p.R798P|GRIN1_uc004cll.2_Missense_Mutation_p.R801P|GRIN1_uc004clm.2_Missense_Mutation_p.R801P|GRIN1_uc004cln.2_Missense_Mutation_p.R819P|GRIN1_uc004clo.2_Missense_Mutation_p.R819P	p.R801P	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)	17	2732	+	all_cancers(76;0.0926)		801			Extracellular (Potential).		A6NLK7|A6NLR1|C9K0X1|P35437|Q12867|Q12868|Q5VSF3|Q5VSF4|Q5VSF5|Q5VSF6|Q5VSF7|Q5VSF8|Q9UPF8|Q9UPF9	Missense_Mutation	SNP	ENST00000371561.3	37	c.2402G>C	CCDS7031.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.757784	0.69648	.	.	ENSG00000176884	ENST00000371561;ENST00000315048;ENST00000350902;ENST00000371550;ENST00000371546;ENST00000371555;ENST00000371553;ENST00000371559;ENST00000371560	T;T;T;T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63	3.97	3.97	0.46021	Ionotropic glutamate receptor (1);	0.055903	0.64402	D	0.000006	T	0.56702	0.2003	L	0.48642	1.525	0.80722	D	1	D;P;D;D;D;P	0.60575	0.987;0.754;0.983;0.988;0.987;0.81	P;P;P;P;P;P	0.58721	0.844;0.56;0.759;0.759;0.844;0.677	T	0.60571	-0.7237	10	0.56958	D	0.05	.	15.1339	0.72549	0.0:0.0:1.0:0.0	.	822;822;801;801;801;801	Q5VSF4;Q5VSF5;Q05586-2;Q05586-3;Q05586;A2AVK2	.;.;.;.;NMDZ1_HUMAN;.	P	801;801;801;801;822;822;822;801;822	ENSP00000360616:R801P;ENSP00000316696:R801P;ENSP00000316915:R801P;ENSP00000360605:R801P;ENSP00000360601:R822P;ENSP00000360610:R822P;ENSP00000360608:R822P;ENSP00000360614:R801P;ENSP00000360615:R822P	ENSP00000316696:R801P	R	+	2	0	GRIN1	139177900	1.000000	0.71417	0.975000	0.42487	0.862000	0.49288	5.866000	0.69590	2.226000	0.72624	0.462000	0.41574	CGC		0.602	GRIN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055267.3		NM_007327		14	8	0	0	0	0.024245	0	14	8		
ARSF	416	broad.mit.edu	37	X	3002367	3002367	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chrX:3002367G>A	ENST00000381127.1	+	6	711	c.490G>A	c.(490-492)Ggc>Agc	p.G164S	ARSF_ENST00000537104.1_Missense_Mutation_p.G164S|ARSF_ENST00000359361.2_Missense_Mutation_p.G164S	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	164					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.G164S(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTACTACTATGGCATGCCGTT	0.512																																						uc004cre.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(490-492)GGC>AGC		arylsulfatase F precursor							150.0	115.0	127.0					X																	3002367		2203	4300	6503	SO:0001583	missense	416					extracellular region	arylsulfatase activity|metal ion binding	g.chrX:3002367G>A	X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"""Arylsulfatase family"""	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.490G>A	X.37:g.3002367G>A	ENSP00000370519:p.Gly164Ser					ARSF_uc004crf.1_Missense_Mutation_p.G164S	p.G164S	NM_004042	NP_004033	P54793	ARSF_HUMAN			6	711	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	164					Q8TCC5	Missense_Mutation	SNP	ENST00000381127.1	37	c.490G>A	CCDS14123.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.180230	0.57800	.	.	ENSG00000062096	ENST00000381127;ENST00000537104;ENST00000359361	D;D;D	0.95412	-3.7;-3.7;-3.7	3.44	3.44	0.39384	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.124093	0.53938	U	0.000046	D	0.98197	0.9404	H	0.94964	3.605	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	D	0.99250	1.0887	10	0.72032	D	0.01	.	14.2993	0.66336	0.0:0.0:1.0:0.0	.	164	P54793	ARSF_HUMAN	S	164	ENSP00000370519:G164S;ENSP00000445594:G164S;ENSP00000352319:G164S	ENSP00000352319:G164S	G	+	1	0	ARSF	3012367	1.000000	0.71417	0.011000	0.14972	0.126000	0.20510	7.933000	0.87642	1.331000	0.45412	0.540000	0.68198	GGC		0.512	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1				37	8	0	0	0	0.017118	0	37	8		
CLCN4	1183	broad.mit.edu	37	X	10176604	10176604	+	Missense_Mutation	SNP	G	G	T	rs369733340		TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chrX:10176604G>T	ENST00000380833.4	+	9	1754	c.1363G>T	c.(1363-1365)Gtt>Ttt	p.V455F	CLCN4_ENST00000421085.2_Missense_Mutation_p.V361F|CLCN4_ENST00000380829.1_Missense_Mutation_p.V424F	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	455					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.V455F(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CAAAATCGTCGTTACCATATT	0.527																																					Melanoma(74;1050 1296 1576 30544 38374)	uc004csy.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						c.(1363-1365)GTT>TTT		chloride channel 4							61.0	60.0	60.0					X																	10176604		2201	4291	6492	SO:0001583	missense	1183					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chrX:10176604G>T	X77197	CCDS14137.1, CCDS59159.1	Xp22.3	2012-09-26	2012-02-23		ENSG00000073464	ENSG00000073464		"""Ion channels / Chloride channels : Voltage-sensitive"""	2022	protein-coding gene	gene with protein product		302910	"""chloride channel 4"""			8069296	Standard	NM_001830		Approved	CLC4, ClC-4	uc004csy.4	P51793	OTTHUMG00000021125	ENST00000380833.4:c.1363G>T	X.37:g.10176604G>T	ENSP00000370213:p.Val455Phe					CLCN4_uc011mid.1_Missense_Mutation_p.V361F	p.V455F	NM_001830	NP_001821	P51793	CLCN4_HUMAN			9	1793	+			455			Helical; (By similarity).		A1L3U1|B7Z5Z4|Q9UBU1	Missense_Mutation	SNP	ENST00000380833.4	37	c.1363G>T	CCDS14137.1	.	.	.	.	.	.	.	.	.	.	g	14.47	2.544828	0.45280	.	.	ENSG00000073464	ENST00000380833;ENST00000380829;ENST00000421085	D;D;D	0.93953	-3.32;-3.32;-3.32	5.44	3.11	0.35812	Chloride channel, core (2);	0.093539	0.64402	D	0.000001	T	0.82061	0.4955	N	0.03194	-0.395	0.22330	N	0.99919	B	0.02656	0.0	B	0.08055	0.003	T	0.72330	-0.4326	10	0.59425	D	0.04	-10.0509	7.8195	0.29280	0.8201:0.0:0.1799:0.0	.	455	P51793	CLCN4_HUMAN	F	455;424;361	ENSP00000370213:V455F;ENSP00000370209:V424F;ENSP00000405754:V361F	ENSP00000370209:V424F	V	+	1	0	CLCN4	10136604	1.000000	0.71417	0.987000	0.45799	0.996000	0.88848	4.895000	0.63214	0.273000	0.22049	0.596000	0.82720	GTT		0.527	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055730.1				70	18	1	0	2.09306e-48	0.01441	2.34109e-48	70	18		
RBMX2	51634	broad.mit.edu	37	X	129537824	129537824	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chrX:129537824C>T	ENST00000305536.6	+	3	234	c.170C>T	c.(169-171)tCa>tTa	p.S57L	RBMX2_ENST00000370947.1_Missense_Mutation_p.S57L|RBMX2_ENST00000469953.1_3'UTR	NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	57	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S57L(1)		breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						TGTGTGTTCTCACAGTAAGTG	0.403																																						uc004evt.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(3)|ovary(1)	4						c.(169-171)TCA>TTA		RNA binding motif protein, X-linked 2							322.0	302.0	308.0					X																	129537824		1939	4138	6077	SO:0001583	missense	51634						nucleotide binding|RNA binding	g.chrX:129537824C>T	AF078865	CCDS43993.1	Xq26.1	2013-02-12			ENSG00000134597	ENSG00000134597		"""RNA binding motif (RRM) containing"""	24282	protein-coding gene	gene with protein product						10810093	Standard	NM_016024		Approved	CGI-79	uc004evt.3	Q9Y388	OTTHUMG00000022395	ENST00000305536.6:c.170C>T	X.37:g.129537824C>T	ENSP00000339090:p.Ser57Leu						p.S57L	NM_016024	NP_057108	Q9Y388	RBMX2_HUMAN			3	234	+			57			RRM.		A8K9Z0|Q5JY82|Q9Y3I8	Missense_Mutation	SNP	ENST00000305536.6	37	c.170C>T	CCDS43993.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.070650	0.76301	.	.	ENSG00000134597	ENST00000305536;ENST00000538614;ENST00000370947	T;T	0.35421	2.11;1.31	5.26	4.39	0.52855	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.245666	0.42821	D	0.000654	T	0.56717	0.2004	M	0.75884	2.315	0.80722	D	1	D	0.63046	0.992	D	0.68483	0.958	T	0.60058	-0.7337	10	0.87932	D	0	.	10.7044	0.45946	0.0:0.9039:0.0:0.0961	.	57	Q9Y388	RBMX2_HUMAN	L	57	ENSP00000339090:S57L;ENSP00000359985:S57L	ENSP00000339090:S57L	S	+	2	0	RBMX2	129365505	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	6.898000	0.75676	1.097000	0.41459	0.506000	0.49869	TCA		0.403	RBMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058265.1		NM_016024		88	120	0	0	0	0.01441	0	88	120		
USP26	83844	broad.mit.edu	37	X	132161712	132161712	+	Silent	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chrX:132161712C>T	ENST00000511190.1	-	6	1006	c.537G>A	c.(535-537)aaG>aaA	p.K179K	USP26_ENST00000406273.1_Silent_p.K179K|USP26_ENST00000370832.1_Silent_p.K179K	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	179					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.K179K(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TTCTTTTCCTCTTCTTGTGCT	0.393																																					NSCLC(104;342 1621 36940 47097 52632)	uc010nrm.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	lung(3)|central_nervous_system(3)|kidney(1)|liver(1)	8						c.(535-537)AAG>AAA		ubiquitin-specific protease 26							105.0	87.0	93.0					X																	132161712		2203	4299	6502	SO:0001819	synonymous_variant	83844				protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chrX:132161712C>T	AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"""Ubiquitin-specific peptidases"""	13485	protein-coding gene	gene with protein product		300309	"""ubiquitin specific protease 26"""			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.537G>A	X.37:g.132161712C>T						USP26_uc011mvf.1_Silent_p.K179K	p.K179K	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN			6	1007	-	Acute lymphoblastic leukemia(192;0.000127)		179					B9WRT6|Q5H9H4	Silent	SNP	ENST00000511190.1	37	c.537G>A	CCDS14635.1																																																																																				0.393	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1		NM_031907		21	42	0	0	0	0.014323	0	21	42		
GDI1	2664	broad.mit.edu	37	X	153665607	153665607	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chrX:153665607G>A	ENST00000447750.2	+	1	342	c.7G>A	c.(7-9)Gag>Aag	p.E3K		NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	3					negative regulation of axonogenesis (GO:0050771)|negative regulation of protein targeting to membrane (GO:0090315)|protein transport (GO:0015031)|Rab protein signal transduction (GO:0032482)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|midbody (GO:0030496)|neuron projection (GO:0043005)|protein complex (GO:0043234)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|Rab GDP-dissociation inhibitor activity (GO:0005093)	p.E3K(1)		autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GACCATGGACGAGGAATACGA	0.726																																						uc004fli.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(7-9)GAG>AAG		GDP dissociation inhibitor 1							75.0	50.0	58.0					X																	153665607		2200	4299	6499	SO:0001583	missense	2664				protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding	g.chrX:153665607G>A	X79353	CCDS35452.1	Xq28	2008-08-01			ENSG00000203879	ENSG00000203879			4226	protein-coding gene	gene with protein product	"""mental retardation, X-linked 41"", ""mental retardation, X-linked 48"", ""rab GDP-dissociation inhibitor, alpha"""	300104		MRX48, MRX41, GDIL		7543319, 7849400	Standard	NM_001493		Approved	RABGDIA, XAP-4, OPHN2, FLJ41411	uc004fli.4	P31150	OTTHUMG00000033293	ENST00000447750.2:c.7G>A	X.37:g.153665607G>A	ENSP00000394071:p.Glu3Lys					GDI1_uc011mzo.1_Missense_Mutation_p.E3K	p.E3K	NM_001493	NP_001484	P31150	GDIA_HUMAN			1	349	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		3					P50394|Q6FG50|Q7Z2G6|Q7Z2G9|Q7Z2H5|Q7Z2I6	Missense_Mutation	SNP	ENST00000447750.2	37	c.7G>A	CCDS35452.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.164892	0.38217	.	.	ENSG00000203879	ENST00000447750;ENST00000369741	D	0.88818	-2.43	3.76	2.87	0.33458	.	0.000000	0.64402	D	0.000001	D	0.86569	0.5964	M	0.76727	2.345	0.80722	D	1	B;B	0.32620	0.378;0.132	B;B	0.31390	0.129;0.045	T	0.83152	-0.0103	10	0.51188	T	0.08	-17.8517	9.3942	0.38392	0.0:0.0:0.7854:0.2146	.	3;3	B4DH24;P31150	.;GDIA_HUMAN	K	3	ENSP00000394071:E3K	ENSP00000358756:E3K	E	+	1	0	GDI1	153318801	1.000000	0.71417	0.991000	0.47740	0.289000	0.27227	6.812000	0.75226	0.600000	0.29862	0.462000	0.41574	GAG		0.726	GDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081649.2		NM_001493		3	1	0	0	0	0.004672	0	3	1		
TXNIP	10628	broad.mit.edu	37	1	145441053	145441054	+	Splice_Site	INS	-	-	GT			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08			-	GT	-	-		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:145441053_145441054insGT	ENST00000369317.4	+	7	1474	c.1140_1140insGT	c.(1141-1143)gtg>gtGTg	p.V381fs	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	381					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTTATACTGAGGTGAGGATTGT	0.416																																						uc001enn.3		NaN																	0				ovary(2)	2						c.e7+1		thioredoxin interacting protein																																				SO:0001630	splice_region_variant	10628				cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	g.chr1:145441053_145441054insGT	S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"""upregulated by 1,25-dihydroxyvitamin D-3"", ""thioredoxin binding protein 2"""	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.1140+1->GT	1.37:g.145441054_145441055dupGT						NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_Splice_Site_p.E325_splice	p.E380_splice	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN			7	1481	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)							B4E3D3|Q16226|Q6PML0|Q9BXG9	Splice_Site	INS	ENST00000369317.4	37	c.1140_splice	CCDS913.1																																																																																				0.416	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1		NM_006472	Frame_Shift_Ins	12	238	NaN	NaN	NaN	NaN	NaN	12	238	---	---
ARHGAP30	257106	broad.mit.edu	37	1	161021110	161021121	+	In_Frame_Del	DEL	GGCCAGGGCCAA	GGCCAGGGCCAA	-	rs201733366		TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:161021110_161021121delGGCCAGGGCCAA	ENST00000368013.3	-	10	1723_1734	c.1403_1414delTTGGCCCTGGCC	c.(1402-1416)cttggccctggcccc>ccc	p.LGPG468del	ARHGAP30_ENST00000368015.1_In_Frame_Del_p.LGPG291del|ARHGAP30_ENST00000368016.3_In_Frame_Del_p.LGPG468del	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	468					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TCACCTGGGgggccagggccaaggccagggcc	0.618																																						uc001fxl.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(1402-1416)CTTGGCCCTGGCCCC>CCC		Rho GTPase activating protein 30 isoform 1			,	5,4253		0,5,2124					,	4.0	1.0			31	7,8233		0,7,4113	no	coding,coding	ARHGAP30	NM_181720.2,NM_001025598.1	,	0,12,6237	A1A1,A1R,RR		0.085,0.1174,0.096	,	,		12,12486				SO:0001651	inframe_deletion	257106				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr1:161021110_161021121delGGCCAGGGCCAA	AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"""Rho GTPase activating proteins"""	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.1403_1414delTTGGCCCTGGCC	1.37:g.161021110_161021121delGGCCAGGGCCAA	ENSP00000356992:p.Leu468_Gly471del					ARHGAP30_uc001fxk.2_In_Frame_Del_p.LGPG468del|ARHGAP30_uc001fxm.2_In_Frame_Del_p.LGPG314del|ARHGAP30_uc009wtx.2_In_Frame_Del_p.LGPG141del|ARHGAP30_uc001fxn.1_In_Frame_Del_p.LGPG314del	p.LGPG468del	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00122)		10	1749_1760	-	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		468_471					Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	In_Frame_Del	DEL	ENST00000368013.3	37	c.1403_1414delTTGGCCCTGGCC	CCDS30918.1																																																																																				0.618	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2		NM_181720		7	64	NaN	NaN	NaN	NaN	NaN	7	64	---	---
TOPBP1	11073	broad.mit.edu	37	3	133341981	133341982	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr3:133341981_133341982delTT	ENST00000260810.5	-	19	3262_3263	c.3131_3132delAA	c.(3130-3132)aaafs	p.K1044fs		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1044					cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						GTGCTGACTCTTTATTATTGGT	0.287								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)	uc003eps.2		NaN																	0				ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1)	7						c.(3130-3132)AAAfs	Other_conserved_DNA_damage_response_genes	topoisomerase (DNA) II binding protein 1																																				SO:0001589	frameshift_variant	11073				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding	g.chr3:133341981_133341982delTT	AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.3131_3132delAA	3.37:g.133341981_133341982delTT	ENSP00000260810:p.Lys1044fs					TOPBP1_uc003ept.1_Frame_Shift_Del_p.K48fs	p.K1044fs	NM_007027	NP_008958	Q92547	TOPB1_HUMAN			19	3263_3264	-			1044					B7Z7W8|Q7LGC1|Q9UEB9	Frame_Shift_Del	DEL	ENST00000260810.5	37	c.3131_3132delAA	CCDS46919.1																																																																																				0.287	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1		NM_007027		13	23	NaN	NaN	NaN	NaN	NaN	13	23	---	---
LURAP1L	286343	broad.mit.edu	37	9	12775861	12775862	+	In_Frame_Ins	INS	-	-	GGCGGCGGC	rs3833707|rs139315731		TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr9:12775861_12775862insGGCGGCGGC	ENST00000319264.3	+	1	842_843	c.147_148insGGCGGCGGC	c.(148-150)ggc>GGCGGCGGCggc	p.50_50G>GGGG	LURAP1L_ENST00000489107.1_3'UTR|RP11-3L8.3_ENST00000417638.1_RNA	NM_203403.1	NP_981948.1	Q8IV03	LUR1L_HUMAN	leucine rich adaptor protein 1-like	53	Gly-rich.							p.G49_G50insGGG(2)|p.G50_G52delGGG(1)									gcggtggtggtggcggcggcgg	0.688																																						uc003zkw.2		NaN																	3	Insertion - In frame(2)|Deletion - In frame(1)		large_intestine(1)|prostate(1)|central_nervous_system(1)		0						c.(145-150)insGGCGGCGGC		hypothetical protein LOC286343																																				SO:0001652	inframe_insertion	286343							g.chr9:12775861_12775862insGGCGGCGGC	AK095824	CCDS6473.1	9p22.3	2012-02-01	2012-02-01	2012-02-01	ENSG00000153714	ENSG00000153714			31452	protein-coding gene	gene with protein product	"""similar to DNA segment, Chr 4, Brigham & Womens Genetics 0951 expressed"""		"""chromosome 9 open reading frame 150"""	C9orf150		12766061	Standard	NM_203403		Approved	MGC46502, FLJ38505, bA3L8.2	uc003zkw.3	Q8IV03	OTTHUMG00000019557	ENST00000319264.3:c.157_165dupGGCGGCGGC	9.37:g.12775862_12775870dupGGCGGCGGC	ENSP00000321026:p.GlyGlyGly53dup						p.55_56insGGG	NM_203403	NP_981948	Q8IV03	CI150_HUMAN		GBM - Glioblastoma multiforme(1;1.64e-13)	1	850_851	+			58_59			Gly-rich.		Q5VZX7|Q8N923|Q8NCG2	In_Frame_Ins	INS	ENST00000319264.3	37	c.147_148insGGCGGCGGC	CCDS6473.1																																																																																				0.688	LURAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051730.1		NM_203403		8	5	NaN	NaN	NaN	NaN	NaN	8	5	---	---
KDM6A	7403	broad.mit.edu	37	X	44820575	44820575	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08			T	-	T	T		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chrX:44820575delT	ENST00000377967.4	+	3	313	c.272delT	c.(271-273)gtgfs	p.V91fs	KDM6A_ENST00000536777.1_Frame_Shift_Del_p.V91fs|KDM6A_ENST00000543216.1_Frame_Shift_Del_p.V91fs|KDM6A_ENST00000382899.4_Frame_Shift_Del_p.V91fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	91	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0(14)|p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GAAGGAAAAGTGGAGTCTGAT	0.289			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	uc004dge.3		NaN		Rec	yes		X	Xp11.2	7403	D|N|F|S	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			renal|oesophageal SCC|MM		20	No detectable mRNA/protein(14)|Whole gene deletion(6)	p.0(14)|p.0?(6)	haematopoietic_and_lymphoid_tissue(12)|oesophagus(4)|breast(2)|pancreas(2)	kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						c.(271-273)GTGfs		ubiquitously transcribed tetratricopeptide							119.0	104.0	109.0					X																	44820575		2202	4297	6499	SO:0001589	frameshift_variant	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44820575delT	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.272delT	X.37:g.44820575delT	ENSP00000367203:p.Val91fs					KDM6A_uc010nhk.2_Frame_Shift_Del_p.V91fs|KDM6A_uc011mkz.1_Frame_Shift_Del_p.V91fs|KDM6A_uc011mla.1_Frame_Shift_Del_p.V91fs|KDM6A_uc011mlb.1_Frame_Shift_Del_p.V91fs|KDM6A_uc011mlc.1_5'UTR	p.V91fs	NM_021140	NP_066963	O15550	KDM6A_HUMAN			3	647	+			91					Q52LL9|Q5JVQ7	Frame_Shift_Del	DEL	ENST00000377967.4	37	c.272delT	CCDS14265.1																																																																																				0.289	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1		NM_021140		21	12	NaN	NaN	NaN	NaN	NaN	21	12	---	---
