#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_refseq_mrna_id	i_secondary_variant_classification
GABRD	2563	broad.mit.edu	37	1	1961508	1961508	+	Silent	SNP	C	C	T	rs374718450		TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr1:1961508C>T	ENST00000378585.4	+	9	1229	c.1146C>T	c.(1144-1146)cgC>cgT	p.R382R		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	382					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	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)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|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)	GGCAGCGCCGCGTCCCGGGGA	0.692																																						uc001aip.2																			0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1144-1146)CGC>CGT		gamma-aminobutyric acid (GABA) A receptor, delta		C		1,4397		0,1,2198	24.0	28.0	26.0		1146	-5.2	0.0	1		26	0,8586		0,0,4293	no	coding-synonymous	GABRD	NM_000815.4		0,1,6491	TT,TC,CC		0.0,0.0227,0.0077		382/453	1961508	1,12983	2199	4293	6492	SO:0001819	synonymous_variant	2563					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.chr1:1961508C>T	BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4084	protein-coding gene	gene with protein product	"""GABA(A) receptor, delta"""	137163				2176788, 10965146	Standard	NM_000815		Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.1146C>T	1.37:g.1961508C>T							p.R382R	NM_000815	NP_000806	O14764	GBRD_HUMAN		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	9	1241	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	382			Cytoplasmic (Probable).		Q8N4N9	Silent	SNP	ENST00000378585.4	37	c.1146C>T	CCDS36.1																																																																																				0.692	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098493.1	NM_000815	
DNAJC11	55735	broad.mit.edu	37	1	6704720	6704720	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr1:6704720C>T	ENST00000377577.5	-	10	1118	c.995G>A	c.(994-996)gGg>gAg	p.G332E	DNAJC11_ENST00000465508.1_5'UTR|DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000294401.7_Missense_Mutation_p.G332E|DNAJC11_ENST00000542246.1_Missense_Mutation_p.G294E|DNAJC11_ENST00000377573.5_Missense_Mutation_p.G242E	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	332						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		CACCACCGTCCCAAAGAAGCC	0.562																																						uc001aof.2																			0				ovary(1)|skin(1)	2						c.(994-996)GGG>GAG		DnaJ (Hsp40) homolog, subfamily C, member 11							73.0	71.0	72.0					1																	6704720		2203	4300	6503	SO:0001583	missense	55735				protein folding		heat shock protein binding|unfolded protein binding	g.chr1:6704720C>T	AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"""Heat shock proteins / DNAJ (HSP40)"""	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.995G>A	1.37:g.6704720C>T	ENSP00000366800:p.Gly332Glu					DNAJC11_uc010nzt.1_Intron|DNAJC11_uc001aog.2_Missense_Mutation_p.G332E|DNAJC11_uc010nzu.1_Missense_Mutation_p.G242E	p.G332E	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)	10	1101	-	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	332					Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Missense_Mutation	SNP	ENST00000377577.5	37	c.995G>A	CCDS87.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.028502	0.75390	.	.	ENSG00000007923	ENST00000377577;ENST00000294401;ENST00000542246;ENST00000377573	T;T;T;T	0.30182	2.17;2.25;1.92;1.54	5.58	5.58	0.84498	.	0.103856	0.64402	D	0.000003	T	0.59622	0.2207	M	0.81942	2.565	0.80722	D	1	D;D;D	0.76494	0.988;0.99;0.999	P;D;D	0.71184	0.839;0.972;0.952	T	0.63550	-0.6612	10	0.72032	D	0.01	.	18.5658	0.91116	0.0:1.0:0.0:0.0	.	242;332;332	B4DGD5;Q9NVH1-3;Q9NVH1	.;.;DJC11_HUMAN	E	332;332;294;242	ENSP00000366800:G332E;ENSP00000294401:G332E;ENSP00000444020:G294E;ENSP00000366796:G242E	ENSP00000294401:G332E	G	-	2	0	DNAJC11	6627307	1.000000	0.71417	1.000000	0.80357	0.231000	0.25187	7.249000	0.78278	2.624000	0.88883	0.585000	0.79938	GGG		0.562	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3	NM_018198	
TNFRSF9	3604	broad.mit.edu	37	1	7998781	7998781	+	Splice_Site	SNP	C	C	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr1:7998781C>A	ENST00000377507.3	-	3	374	c.208G>T	c.(208-210)Ggt>Tgt	p.G70C		NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily, member 9	70					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)	p.G70C(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		GAACTCATACCTTTACACTGC	0.398																																						uc001aot.2																			1	Substitution - Missense(1)		kidney(1)	large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						c.(208-210)GGT>TGT		tumor necrosis factor receptor superfamily,							176.0	178.0	177.0					1																	7998781		2203	4300	6503	SO:0001630	splice_region_variant	3604				induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity	g.chr1:7998781C>A	L12964	CCDS92.1	1p36	2008-02-05			ENSG00000049249	ENSG00000049249		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11924	protein-coding gene	gene with protein product		602250		ILA		8262389, 8639902	Standard	NM_001561		Approved	CD137, 4-1BB	uc001aot.3	Q07011	OTTHUMG00000001223	ENST00000377507.3:c.208+1G>T	1.37:g.7998781C>A							p.G70C	NM_001561	NP_001552	Q07011	TNR9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)	3	336	-	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	70			TNFR-Cys 2.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000377507.3	37	c.208G>T	CCDS92.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.596826	0.46318	.	.	ENSG00000049249	ENST00000377507	D	0.98178	-4.77	5.39	5.39	0.77823	TNFR/CD27/30/40/95 cysteine-rich region (3);	0.000000	0.85682	D	0.000000	D	0.98223	0.9412	L	0.47190	1.495	0.48341	D	0.99963	D	0.89917	1.0	D	0.97110	1.0	D	0.97864	1.0282	9	.	.	.	-25.1718	15.0045	0.71501	0.0:1.0:0.0:0.0	.	70	Q07011	TNR9_HUMAN	C	70	ENSP00000366729:G70C	.	G	-	1	0	TNFRSF9	7921368	1.000000	0.71417	0.999000	0.59377	0.022000	0.10575	3.442000	0.52900	2.698000	0.92095	0.563000	0.77884	GGT		0.398	TNFRSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003622.1		Missense_Mutation
FBLIM1	54751	broad.mit.edu	37	1	16095074	16095074	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr1:16095074G>A	ENST00000375766.3	+	5	1130	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	FBLIM1_ENST00000332305.5_Intron|FBLIM1_ENST00000441801.2_Missense_Mutation_p.E164K|FBLIM1_ENST00000400773.1_Intron|FBLIM1_ENST00000375771.1_Missense_Mutation_p.E164K	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1	164	Pro-rich.				cell junction assembly (GO:0034329)|regulation of cell shape (GO:0008360)|regulation of integrin activation (GO:0033623)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|stress fiber (GO:0001725)	filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		GCCCATGGAGGAAGAGCTGCC	0.652																																						uc001axd.1																			0				skin(1)	1						c.(490-492)GAA>AAA		filamin-binding LIM protein-1 isoform a							36.0	38.0	37.0					1																	16095074		2203	4300	6503	SO:0001583	missense	54751				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding	g.chr1:16095074G>A		CCDS163.1, CCDS30609.1, CCDS44064.1	1p36.13	2014-04-07			ENSG00000162458	ENSG00000162458			24686	protein-coding gene	gene with protein product		607747				12679033, 12496242	Standard	XM_005245900		Approved	FBLP-1, CAL, migfilin	uc001axe.1	Q8WUP2	OTTHUMG00000003079	ENST00000375766.3:c.490G>A	1.37:g.16095074G>A	ENSP00000364921:p.Glu164Lys					FBLIM1_uc001axe.1_Missense_Mutation_p.E164K|FBLIM1_uc001axf.2_RNA|FBLIM1_uc001axg.1_Missense_Mutation_p.E164K|FBLIM1_uc001axh.1_Intron|FBLIM1_uc001axi.1_Intron	p.E164K	NM_017556	NP_060026	Q8WUP2	FBLI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)	6	933	+		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	164			Pro-rich.		B3KNY0|Q5VVE0|Q5VVE1|Q8IX23|Q96T00|Q9UFD6	Missense_Mutation	SNP	ENST00000375766.3	37	c.490G>A	CCDS163.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.429562	0.43122	.	.	ENSG00000162458	ENST00000375771;ENST00000375766;ENST00000441801	T;T;T	0.58506	0.38;0.38;0.33	3.44	3.44	0.39384	.	1.200970	0.05933	N	0.635572	T	0.69620	0.3131	M	0.65975	2.015	0.80722	D	1	D;D	0.61697	0.99;0.982	P;P	0.57911	0.829;0.584	T	0.62358	-0.6871	10	0.28530	T	0.3	.	10.6936	0.45886	0.0:0.0:1.0:0.0	.	164;164	Q8WUP2-2;Q8WUP2	.;FBLI1_HUMAN	K	164	ENSP00000364926:E164K;ENSP00000364921:E164K;ENSP00000416387:E164K	ENSP00000364921:E164K	E	+	1	0	FBLIM1	15967661	0.990000	0.36364	0.915000	0.36163	0.039000	0.13416	3.960000	0.56752	2.231000	0.72958	0.313000	0.20887	GAA		0.652	FBLIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008511.3	NM_001024215	
THEMIS2	9473	broad.mit.edu	37	1	28208484	28208484	+	Missense_Mutation	SNP	C	C	T	rs375363209		TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr1:28208484C>T	ENST00000373921.3	+	4	653	c.649C>T	c.(649-651)Cgc>Tgc	p.R217C	THEMIS2_ENST00000328928.7_Missense_Mutation_p.R217C|THEMIS2_ENST00000373925.1_Intron|THEMIS2_ENST00000373927.3_Intron	NM_001105556.1	NP_001099026.1	Q5TEJ8	THMS2_HUMAN	thymocyte selection associated family member 2	217	CABIT 1.				cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											CTCCACAGTGCGCAGGACCAT	0.652																																						uc001bpc.3																			0				ovary(1)	1						c.(649-651)CGC>TGC		basement membrane-induced gene isoform 3		C	,CYS/ARG,	0,4232		0,0,2116	45.0	46.0	46.0		,649,	5.3	1.0	1		46	1,8481		0,1,4240	no	intron,missense,intron	C1orf38	NM_001039477.1,NM_001105556.1,NM_004848.2	,180,	0,1,6356	TT,TC,CC		0.0118,0.0,0.0079	,probably-damaging,	,217/644,	28208484	1,12713	2116	4241	6357	SO:0001583	missense	9473				cell adhesion|inflammatory response			g.chr1:28208484C>T	AF044896	CCDS30653.1, CCDS30654.1, CCDS41290.1, CCDS65461.1	1p35.2	2012-07-10	2012-07-10	2012-07-10	ENSG00000130775	ENSG00000130775			16839	protein-coding gene	gene with protein product	"""induced by contact to basement membrane 1"""		"""chromosome 1 open reading frame 38"""	C1orf38		16219472	Standard	XM_005246041		Approved	ICB-1, Icb-1	uc001bpc.4	Q5TEJ8	OTTHUMG00000003735	ENST00000373921.3:c.649C>T	1.37:g.28208484C>T	ENSP00000363031:p.Arg217Cys					C1orf38_uc001boz.2_Intron|C1orf38_uc001bpa.2_Intron|C1orf38_uc010ofn.1_Intron|C1orf38_uc010ofo.1_Missense_Mutation_p.R217C	p.R217C	NM_001105556	NP_001099026	Q5TEJ8	THMS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;2.52e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)	4	677	+		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	217			CABIT 1.		A2RTZ3|B4DZT9|B4DZY3|O60560|Q5TEJ1|Q5TEJ9|Q5TEK1|Q68DP4|Q9BYB6|Q9NS90	Missense_Mutation	SNP	ENST00000373921.3	37	c.649C>T	CCDS41290.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.636271	0.67130	0.0	1.18E-4	ENSG00000130775	ENST00000328928;ENST00000442118;ENST00000373921	T;T;T	0.52295	2.5;0.67;2.5	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.68284	0.2984	M	0.79475	2.455	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.71682	-0.4519	10	0.87932	D	0	-25.1368	12.9616	0.58462	0.1619:0.8381:0.0:0.0	.	217;217	Q5TEJ8-5;Q5TEJ8	.;THMS2_HUMAN	C	217;80;217	ENSP00000329862:R217C;ENSP00000413725:R80C;ENSP00000363031:R217C	ENSP00000329862:R217C	R	+	1	0	C1orf38	28081071	1.000000	0.71417	1.000000	0.80357	0.639000	0.38242	4.051000	0.57412	2.654000	0.90174	0.561000	0.74099	CGC		0.652	THEMIS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011148.1	NM_004848	
FLG	2312	broad.mit.edu	37	1	152276552	152276552	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr1:152276552C>T	ENST00000368799.1	-	3	10845	c.10810G>A	c.(10810-10812)Gag>Aag	p.E3604K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3604	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGGAATTCTCTGCATGATGA	0.562									Ichthyosis																													uc001ezu.1																			0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(10810-10812)GAG>AAG		filaggrin							207.0	211.0	210.0					1																	152276552		2202	4298	6500	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152276552C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10810G>A	1.37:g.152276552C>T	ENSP00000357789:p.Glu3604Lys						p.E3604K	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	10846	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3604			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.10810G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	c	6.184	0.402038	0.11696	.	.	ENSG00000143631	ENST00000368799	T	0.03860	3.78	2.52	-4.75	0.03239	.	.	.	.	.	T	0.02083	0.0065	M	0.67953	2.075	0.09310	N	1	P	0.46220	0.874	B	0.42555	0.391	T	0.15321	-1.0441	9	0.09590	T	0.72	.	15.4071	0.74887	0.0:0.199:0.801:0.0	.	3604	P20930	FILA_HUMAN	K	3604	ENSP00000357789:E3604K	ENSP00000357789:E3604K	E	-	1	0	FLG	150543176	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.937000	0.00685	-1.107000	0.03004	-0.301000	0.09380	GAG		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
FLG	2312	broad.mit.edu	37	1	152280440	152280440	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr1:152280440C>T	ENST00000368799.1	-	3	6957	c.6922G>A	c.(6922-6924)Gag>Aag	p.E2308K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2308	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGGAATTCTCTGCATGATGA	0.562									Ichthyosis																													uc001ezu.1																			0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(6922-6924)GAG>AAG		filaggrin							240.0	266.0	257.0					1																	152280440		2203	4298	6501	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152280440C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6922G>A	1.37:g.152280440C>T	ENSP00000357789:p.Glu2308Lys						p.E2308K	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6958	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2308			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.6922G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	7.674	0.687686	0.14973	.	.	ENSG00000143631	ENST00000368799;ENST00000271820	T	0.03860	3.78	2.81	-2.55	0.06288	.	.	.	.	.	T	0.02119	0.0066	M	0.62723	1.935	0.09310	N	1	B	0.32409	0.37	B	0.30105	0.111	T	0.24693	-1.0153	9	0.38643	T	0.18	.	12.9083	0.58164	0.0:0.2495:0.7505:0.0	.	2308	P20930	FILA_HUMAN	K	2308;218	ENSP00000357789:E2308K	ENSP00000271820:E218K	E	-	1	0	FLG	150547064	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.612000	0.05616	-0.491000	0.06697	0.194000	0.17425	GAG		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
SEC16B	89866	broad.mit.edu	37	1	177936906	177936906	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr1:177936906G>T	ENST00000308284.6	-	2	300	c.211C>A	c.(211-213)Cat>Aat	p.H71N	SEC16B_ENST00000464631.2_Missense_Mutation_p.H71N|RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	71	Required for endoplasmic reticulum localization.				COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GATGCATAATGGGGCTGCTGC	0.542																																						uc001gli.1																			0				ovary(3)|central_nervous_system(1)	4						c.(211-213)CAT>AAT		leucine zipper transcription regulator 2							72.0	76.0	75.0					1																	177936906		2073	4221	6294	SO:0001583	missense	89866				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr1:177936906G>T	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.211C>A	1.37:g.177936906G>T	ENSP00000308339:p.His71Asn					SEC16B_uc001glk.1_5'UTR|SEC16B_uc009wwz.1_5'UTR|SEC16B_uc001glj.1_Missense_Mutation_p.H71N|SEC16B_uc001gll.3_Missense_Mutation_p.H71N	p.H71N	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN			2	301	-			71			Required for endoplasmic reticulum localization.		A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Missense_Mutation	SNP	ENST00000308284.6	37	c.211C>A	CCDS44281.1	.	.	.	.	.	.	.	.	.	.	G	9.001	0.980112	0.18812	.	.	ENSG00000120341	ENST00000308284;ENST00000414025;ENST00000464631	T;T	0.43294	2.51;0.95	5.58	2.41	0.29592	.	0.949029	0.08856	N	0.883704	T	0.26448	0.0646	L	0.29908	0.895	0.09310	N	1	B;B;B	0.19331	0.035;0.014;0.011	B;B;B	0.17722	0.019;0.019;0.014	T	0.21552	-1.0242	10	0.23302	T	0.38	-0.6111	2.9016	0.05707	0.0881:0.2214:0.4326:0.2578	.	71;71;71	E9PK14;B1AM08;Q96JE7	.;.;SC16B_HUMAN	N	71	ENSP00000308339:H71N;ENSP00000431727:H71N	ENSP00000308339:H71N	H	-	1	0	AL359075.1	176203529	0.000000	0.05858	0.002000	0.10522	0.011000	0.07611	-0.048000	0.11944	1.357000	0.45904	-0.252000	0.11476	CAT		0.542	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127	
LAMB3	3914	broad.mit.edu	37	1	209791966	209791966	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr1:209791966C>T	ENST00000356082.4	-	19	2874	c.2740G>A	c.(2740-2742)Gag>Aag	p.E914K	LAMB3_ENST00000391911.1_Missense_Mutation_p.E914K|LAMB3_ENST00000367030.3_Missense_Mutation_p.E914K	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	914	Domain I.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		AGCACGGCCTCGCTGACCTCC	0.582																																						uc001hhg.2																			0				central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6						c.(2740-2742)GAG>AAG		laminin, beta 3 precursor							70.0	67.0	68.0					1																	209791966		2203	4300	6503	SO:0001583	missense	3914				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	g.chr1:209791966C>T	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.2740G>A	1.37:g.209791966C>T	ENSP00000348384:p.Glu914Lys					LAMB3_uc009xco.2_Missense_Mutation_p.E914K|LAMB3_uc001hhh.2_Missense_Mutation_p.E914K	p.E914K	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0519)	18	3130	-			914			Domain I.		D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	ENST00000356082.4	37	c.2740G>A	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.034756	0.54896	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030	T;T;T	0.22743	1.94;1.94;1.94	5.12	3.24	0.37175	.	0.235283	0.42548	D	0.000695	T	0.23572	0.0570	M	0.73598	2.24	0.40877	D	0.983964	B	0.25809	0.135	B	0.15484	0.013	T	0.10660	-1.0620	10	0.59425	D	0.04	.	10.4553	0.44546	0.0:0.8407:0.0:0.1593	.	914	Q13751	LAMB3_HUMAN	K	914	ENSP00000375778:E914K;ENSP00000348384:E914K;ENSP00000355997:E914K	ENSP00000348384:E914K	E	-	1	0	LAMB3	207858589	0.885000	0.30320	1.000000	0.80357	0.822000	0.46500	1.695000	0.37763	1.172000	0.42781	0.555000	0.69702	GAG		0.582	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228	
CENPF	1063	broad.mit.edu	37	1	214819178	214819178	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr1:214819178G>A	ENST00000366955.3	+	13	6433	c.6265G>A	c.(6265-6267)Gtc>Atc	p.V2089I		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2185					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AAAGCTGAATGTCTCCAAGGC	0.473																																					Colon(80;575 1284 11000 14801 43496)	uc001hkm.2																			0				ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13						c.(6265-6267)GTC>ATC		centromere protein F							51.0	56.0	54.0					1																	214819178		2203	4300	6503	SO:0001583	missense	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214819178G>A	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.6265G>A	1.37:g.214819178G>A	ENSP00000355922:p.Val2089Ile						p.V2089I	NM_016343	NP_057427	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	13	6439	+			2185			Potential.|Interaction with NDE1 and NDEL1.		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	c.6265G>A	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	G	0.088	-1.172648	0.01646	.	.	ENSG00000117724	ENST00000366955	T	0.02552	4.25	5.45	-1.66	0.08265	.	1.341490	0.05472	N	0.553286	T	0.01489	0.0048	N	0.05124	-0.11	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.48525	-0.9028	10	0.13108	T	0.6	.	4.972	0.14121	0.5795:0.1766:0.1598:0.0841	.	2185	P49454	CENPF_HUMAN	I	2089	ENSP00000355922:V2089I	ENSP00000355922:V2089I	V	+	1	0	CENPF	212885801	0.000000	0.05858	0.000000	0.03702	0.193000	0.23685	-0.977000	0.03782	-0.668000	0.05296	-0.183000	0.12914	GTC		0.473	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343	
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						uc010qex.1																			0					0						c.(523-525)AAT>AGT		SubName: Full=cDNA FLJ60462, highly similar to 3-keto-steroid reductase (EC 1.1.1.270);																																						158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G						HSD17B7P2_uc001izq.2_RNA|HSD17B7P2_uc001izo.1_RNA|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S	p.N175S							5	599	+									Missense_Mutation	SNP	ENST00000494540.1	37	c.524A>G																																																																																					0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086	
AGAP6	414189	broad.mit.edu	37	10	51748622	51748622	+	Silent	SNP	A	A	G	rs371327390	byFrequency	TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr10:51748622A>G	ENST00000374056.4	+	1	545	c.147A>G	c.(145-147)gtA>gtG	p.V49V	AGAP6_ENST00000412531.3_Silent_p.V49V			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	49					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						CTGCTGCTGTACAGCCTGCTG	0.582													A|||	4	0.000798722	0.0008	0.0	5008	,	,		16083	0.003		0.0	False		,,,				2504	0.0					uc001jix.3																			0				skin(1)	1						c.(145-147)GTA>GTG		ArfGAP with GTPase domain, ankyrin repeat and PH																																				SO:0001819	synonymous_variant	414189				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51748622A>G		CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23466	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 3"""	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.147A>G	10.37:g.51748622A>G							p.V49V	NM_001077665	NP_001071133	Q5VW22	AGAP6_HUMAN			1	545	+			49						Silent	SNP	ENST00000374056.4	37	c.147A>G																																																																																					0.582	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001077665	
MYOF	26509	broad.mit.edu	37	10	95148849	95148849	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr10:95148849A>G	ENST00000359263.4	-	18	1518	c.1519T>C	c.(1519-1521)Tat>Cat	p.Y507H	MYOF_ENST00000371502.4_Missense_Mutation_p.Y507H|MYOF_ENST00000371501.4_Missense_Mutation_p.Y507H|MYOF_ENST00000358334.5_Missense_Mutation_p.Y494H	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	507					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GGGCTTCCATAAAGATTCAGG	0.428																																						uc001kin.2																			0				ovary(3)|breast(1)	4						c.(1519-1521)TAT>CAT		myoferlin isoform a							136.0	125.0	128.0					10																	95148849		1840	4087	5927	SO:0001583	missense	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95148849A>G	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.1519T>C	10.37:g.95148849A>G	ENSP00000352208:p.Tyr507His					MYOF_uc001kio.2_Missense_Mutation_p.Y494H	p.Y507H	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN			18	1642	-			507			Cytoplasmic (Potential).		B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	37	c.1519T>C	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	A	18.13	3.554290	0.65425	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	D;D;D;D	0.92858	-3.12;-3.0;-3.0;-3.03	5.11	5.11	0.69529	.	0.062767	0.64402	D	0.000003	D	0.96131	0.8739	M	0.85859	2.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.992	D	0.96064	0.9041	10	0.46703	T	0.11	-14.6802	15.0725	0.72049	1.0:0.0:0.0:0.0	.	494;507	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	H	494;507;507;507	ENSP00000351094:Y494H;ENSP00000352208:Y507H;ENSP00000360556:Y507H;ENSP00000360557:Y507H	ENSP00000351094:Y494H	Y	-	1	0	MYOF	95138839	1.000000	0.71417	1.000000	0.80357	0.502000	0.33828	9.139000	0.94554	2.138000	0.66242	0.460000	0.39030	TAT		0.428	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451	
MKI67	4288	broad.mit.edu	37	10	129906302	129906302	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr10:129906302G>A	ENST00000368654.3	-	13	4177	c.3802C>T	c.(3802-3804)Cga>Tga	p.R1268*	MKI67_ENST00000368653.3_Nonsense_Mutation_p.R908*	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1268	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTCTTGGGTCGTTGCTTTGTG	0.507																																						uc001lke.2																			0				ovary(4)|central_nervous_system(2)|skin(1)	7						c.(3802-3804)CGA>TGA		antigen identified by monoclonal antibody Ki-67							219.0	210.0	213.0					10																	129906302		2203	4300	6503	SO:0001587	stop_gained	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129906302G>A	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.3802C>T	10.37:g.129906302G>A	ENSP00000357643:p.Arg1268*					MKI67_uc001lkf.2_Nonsense_Mutation_p.R908*|MKI67_uc009yav.1_Nonsense_Mutation_p.R843*|MKI67_uc009yaw.1_Nonsense_Mutation_p.R418*	p.R1268*	NM_002417	NP_002408	P46013	KI67_HUMAN			13	3997	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1268			16 X 122 AA approximate repeats.|3.		Q5VWH2	Nonsense_Mutation	SNP	ENST00000368654.3	37	c.3802C>T	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	G	43	9.909027	0.99293	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	.	.	.	3.04	-0.0605	0.13788	.	1.619920	0.04367	N	0.358471	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	2.2766	0.04103	0.2902:0.0:0.4632:0.2466	.	.	.	.	X	1268;908;1267	.	ENSP00000357642:R908X	R	-	1	2	MKI67	129796292	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	-0.324000	0.07986	0.118000	0.18165	0.462000	0.41574	CGA		0.507	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417	
F2	2147	broad.mit.edu	37	11	46750326	46750326	+	Missense_Mutation	SNP	C	C	G	rs377462682		TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr11:46750326C>G	ENST00000311907.5	+	11	1467	c.1411C>G	c.(1411-1413)Cct>Gct	p.P471A	F2_ENST00000530231.1_Intron	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	471	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell surface receptor signaling pathway (GO:0007166)|cellular protein metabolic process (GO:0044267)|cytosolic calcium ion homeostasis (GO:0051480)|fibrinolysis (GO:0042730)|leukocyte migration (GO:0050900)|multicellular organismal development (GO:0007275)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|negative regulation of proteolysis (GO:0045861)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900738)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of blood coagulation (GO:0030193)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|thrombospondin receptor activity (GO:0070053)	p.P471S(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|ART-123(DB05777)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Dabigatran etexilate(DB06695)|Drotrecogin alfa(DB00055)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Suramin(DB04786)|Ximelagatran(DB04898)	GCTGAAGAAGCCTGTTGCCTT	0.547																																					Esophageal Squamous(147;1147 1808 2148 38609 51144)	uc001ndf.3																			1	Substitution - Missense(1)	p.P471S(1)	ovary(1)	ovary(3)	3						c.(1411-1413)CCT>GCT		coagulation factor II preproprotein	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	C	ALA/PRO	1,4401	2.1+/-5.4	0,1,2200	122.0	105.0	111.0		1411	5.1	0.6	11		111	0,8598		0,0,4299	no	missense	F2	NM_000506.3	27	0,1,6499	GG,GC,CC		0.0,0.0227,0.0077	probably-damaging	471/623	46750326	1,12999	2201	4299	6500	SO:0001583	missense	2147				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity	g.chr11:46750326C>G	M33031	CCDS31476.1	11p11.2	2013-02-28			ENSG00000180210	ENSG00000180210	3.4.21.5	"""Endogenous ligands"""	3535	protein-coding gene	gene with protein product	"""prepro-coagulation factor II"""	176930					Standard	NM_000506		Approved		uc001ndf.4	P00734	OTTHUMG00000150344	ENST00000311907.5:c.1411C>G	11.37:g.46750326C>G	ENSP00000308541:p.Pro471Ala					F2_uc001ndg.3_RNA	p.P471A	NM_000506	NP_000497	P00734	THRB_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.146)	11	1454	+		all_lung(304;0.000414)|Lung NSC(402;0.0011)	471			Peptidase S1.		B2R7F7|B4E1A7|Q4QZ40|Q53H04|Q53H06|Q69EZ7|Q7Z7P3|Q9UCA1	Missense_Mutation	SNP	ENST00000311907.5	37	c.1411C>G	CCDS31476.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.291316	0.59976	2.27E-4	0.0	ENSG00000180210	ENST00000311907	D	0.94650	-3.48	5.97	5.05	0.67936	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.96929	0.8997	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97501	1.0060	10	0.87932	D	0	.	17.208	0.86923	0.0:0.8739:0.1261:0.0	.	471	P00734	THRB_HUMAN	A	471	ENSP00000308541:P471A	ENSP00000308541:P471A	P	+	1	0	F2	46706902	1.000000	0.71417	0.615000	0.29064	0.232000	0.25224	5.917000	0.69989	1.511000	0.48818	-0.175000	0.13238	CCT		0.547	F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317706.1		
FAM111A	63901	broad.mit.edu	37	11	58919918	58919918	+	Silent	SNP	A	A	G			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr11:58919918A>G	ENST00000528737.1	+	5	3595	c.777A>G	c.(775-777)ttA>ttG	p.L259L	FAM111A_ENST00000533703.1_Silent_p.L259L|FAM111A_ENST00000361723.3_Silent_p.L259L|FAM111A_ENST00000531147.1_Silent_p.L259L|FAM111A_ENST00000420244.1_Silent_p.L259L			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	259					defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				TTGATGAATTAGAAGGCAGAT	0.423																																						uc010rkp.1																			0				ovary(3)	3						c.(775-777)TTA>TTG		hypothetical protein LOC63901							88.0	88.0	88.0					11																	58919918		2201	4295	6496	SO:0001819	synonymous_variant	63901				proteolysis		serine-type endopeptidase activity	g.chr11:58919918A>G	AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.777A>G	11.37:g.58919918A>G						FAM111A_uc010rkq.1_Silent_p.L259L|FAM111A_uc010rkr.1_Silent_p.L259L|FAM111A_uc001nno.2_Silent_p.L259L|FAM111A_uc001nnp.2_Silent_p.L259L|FAM111A_uc001nnq.2_Silent_p.L259L	p.L259L	NM_001142521	NP_001135993	Q96PZ2	F111A_HUMAN			5	1004	+		all_epithelial(135;0.139)	259					A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Silent	SNP	ENST00000528737.1	37	c.777A>G	CCDS7973.1																																																																																				0.423	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393975.1	NM_022074	
NRXN2	9379	broad.mit.edu	37	11	64375399	64375399	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr11:64375399G>A	ENST00000377551.1	-	22	4619	c.4408C>T	c.(4408-4410)Cgc>Tgc	p.R1470C	NRXN2_ENST00000377559.3_Missense_Mutation_p.R1400C|NRXN2_ENST00000301894.2_Missense_Mutation_p.R424C|NRXN2_ENST00000409571.1_Missense_Mutation_p.R1463C|NRXN2_ENST00000265459.6_Missense_Mutation_p.R1470C			Q9P2S2	NRX2A_HUMAN	neurexin 2	1470					adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GAgggcgggcggcgcgcggcg	0.751																																						uc001oap.2																			0				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						c.(1270-1272)CGC>TGC		neurexin 2 isoform beta precursor							3.0	4.0	4.0					11																	64375399		1764	3525	5289	SO:0001583	missense	9379				cell adhesion	integral to membrane		g.chr11:64375399G>A		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.4408C>T	11.37:g.64375399G>A	ENSP00000366774:p.Arg1470Cys					NRXN2_uc001oar.2_Missense_Mutation_p.R1470C|NRXN2_uc001oas.2_Missense_Mutation_p.R1400C|NRXN2_uc001oao.2_Missense_Mutation_p.R110C|NRXN2_uc001oaq.2_Missense_Mutation_p.R1137C	p.R424C	NM_138734	NP_620063	P58401	NRX2B_HUMAN			8	1781	-			424			Extracellular (Potential).		A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	c.1270C>T	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.746904	0.30955	.	.	ENSG00000110076	ENST00000301894;ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T;T	0.61742	0.59;0.08;0.14;0.08;0.19	3.72	2.79	0.32731	.	.	.	.	.	T	0.53334	0.1790	L	0.36672	1.1	0.48975	D	0.999739	D;D;P;B	0.76494	0.999;0.992;0.883;0.007	P;P;B;B	0.51550	0.648;0.673;0.2;0.004	T	0.52260	-0.8599	9	0.56958	D	0.05	.	8.7787	0.34778	0.0:0.0:0.7741:0.2259	.	1400;1470;1216;424	Q9P2S2-2;Q9P2S2;E7EV67;P58401	.;NRX2A_HUMAN;.;NRX2B_HUMAN	C	424;1470;1400;1470;1400;1463	ENSP00000301894:R424C;ENSP00000366774:R1470C;ENSP00000366782:R1400C;ENSP00000265459:R1470C;ENSP00000386416:R1463C	ENSP00000265459:R1470C	R	-	1	0	NRXN2	64131975	1.000000	0.71417	0.999000	0.59377	0.647000	0.38526	2.559000	0.45888	0.674000	0.31244	0.313000	0.20887	CGC		0.751	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080	
IL10RA	3587	broad.mit.edu	37	11	117860220	117860220	+	Silent	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr11:117860220C>T	ENST00000227752.3	+	3	372	c.252C>T	c.(250-252)acC>acT	p.T84T	IL10RA_ENST00000545409.1_Intron|IL10RA_ENST00000541785.1_Silent_p.T64T|IL10RA_ENST00000533700.1_3'UTR	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	84			T -> I (in IBD28). {ECO:0000269|PubMed:19890111}.		cytokine-mediated signaling pathway (GO:0019221)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-10 receptor activity (GO:0004920)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		ATGACCTTACCGCAGTGACCT	0.577																																						uc001prv.2																			0				ovary(1)	1						c.(250-252)ACC>ACT		interleukin 10 receptor, alpha precursor							160.0	129.0	139.0					11																	117860220		2200	4296	6496	SO:0001819	synonymous_variant	3587					integral to membrane|plasma membrane	interleukin-10 receptor activity	g.chr11:117860220C>T	U00672	CCDS8388.1	11q23	2014-09-17			ENSG00000110324	ENSG00000110324		"""Interleukins and interleukin receptors"", ""CD molecules"""	5964	protein-coding gene	gene with protein product		146933		IL10R		8120391	Standard	NR_026691		Approved	HIL-10R, CDW210A, CD210a, CD210	uc001prv.3	Q13651	OTTHUMG00000166523	ENST00000227752.3:c.252C>T	11.37:g.117860220C>T						IL10RA_uc010rxl.1_Silent_p.T64T|IL10RA_uc010rxm.1_Silent_p.T64T|IL10RA_uc010rxn.1_Intron|IL10RA_uc001prw.2_5'UTR	p.T84T	NM_001558	NP_001549	Q13651	I10R1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)	3	329	+	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	84		T -> I (in IBD28).	Extracellular (Potential).		A8K6I0|B0YJ27	Silent	SNP	ENST00000227752.3	37	c.252C>T	CCDS8388.1																																																																																				0.577	IL10RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390167.1		
APLP2	334	broad.mit.edu	37	11	129999030	129999030	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr11:129999030G>A	ENST00000263574.5	+	10	1456	c.1384G>A	c.(1384-1386)Gct>Act	p.A462T	APLP2_ENST00000543137.1_Missense_Mutation_p.A369T|APLP2_ENST00000338167.5_Missense_Mutation_p.A462T|APLP2_ENST00000278756.7_Missense_Mutation_p.A472T|APLP2_ENST00000528499.1_Missense_Mutation_p.A406T|APLP2_ENST00000345598.5_Missense_Mutation_p.A233T|APLP2_ENST00000539648.1_Missense_Mutation_p.A250T	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	462					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		CCGAGTGGAAGCTATGCTGAA	0.582																																						uc010sby.1																			0				ovary(3)	3						c.(1384-1386)GCT>ACT		amyloid beta (A4) precursor-like protein 2							102.0	91.0	94.0					11																	129999030		2201	4297	6498	SO:0001583	missense	334				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity	g.chr11:129999030G>A	L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.1384G>A	11.37:g.129999030G>A	ENSP00000263574:p.Ala462Thr					APLP2_uc001qfp.2_Missense_Mutation_p.A462T|APLP2_uc001qfq.2_Missense_Mutation_p.A406T|APLP2_uc010sbz.1_Missense_Mutation_p.A250T|APLP2_uc001qfr.2_Missense_Mutation_p.A228T|APLP2_uc001qfs.2_Missense_Mutation_p.A233T|APLP2_uc001qfv.2_Missense_Mutation_p.A353T	p.A462T	NM_001642	NP_001633	Q06481	APLP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)	10	1541	+	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	462			Extracellular (Potential).		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000263574.5	37	c.1384G>A	CCDS8486.1	.	.	.	.	.	.	.	.	.	.	G	35	5.420318	0.96111	.	.	ENSG00000084234	ENST00000528499;ENST00000539648;ENST00000263574;ENST00000345598;ENST00000338167;ENST00000278756;ENST00000543137	T;T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42;0.42;0.42	5.71	5.71	0.89125	Amyloidogenic glycoprotein, E2 domain (2);	0.000000	0.85682	D	0.000000	T	0.75191	0.3816	M	0.79805	2.47	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;1.0;0.996;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D	0.91635	0.975;0.999;0.969;0.985;0.999;0.964;0.996	T	0.75439	-0.3317	10	0.48119	T	0.1	-24.4112	18.8518	0.92235	0.0:0.0:1.0:0.0	.	250;462;406;233;400;406;462	F5H845;Q06481;Q06481-2;Q06481-5;B4E3I5;Q06481-4;Q06481-3	.;APLP2_HUMAN;.;.;.;.;.	T	406;250;462;233;462;472;369	ENSP00000435914:A406T;ENSP00000443728:A250T;ENSP00000263574:A462T;ENSP00000263575:A233T;ENSP00000345444:A462T;ENSP00000278756:A472T;ENSP00000444122:A369T	ENSP00000263574:A462T	A	+	1	0	APLP2	129504240	1.000000	0.71417	0.995000	0.50966	0.828000	0.46876	9.476000	0.97823	2.694000	0.91930	0.655000	0.94253	GCT		0.582	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386109.1	NM_001642	
TAS2R30	259293	broad.mit.edu	37	12	11286246	11286246	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr12:11286246A>G	ENST00000539585.1	-	1	997	c.598T>C	c.(598-600)Tgt>Cgt	p.C200R	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_001097643.1	NP_001091112.1	P59541	T2R30_HUMAN	taste receptor, type 2, member 30	200					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)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						CACAGAGAACAGATTAACAGC	0.428																																						uc009zhs.1																			0					0						c.(598-600)TGT>CGT		type 2 taste receptor member 30							204.0	220.0	215.0					12																	11286246		2203	4300	6503	SO:0001583	missense	259293							g.chr12:11286246A>G	AX097746, AF494233	CCDS53750.1	12p13.2	2012-08-22				ENSG00000256188		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19112	protein-coding gene	gene with protein product		613963	"""taste receptor, type 2, member 47"""	TAS2R47			Standard	NM_001097643		Approved	T2R30	uc009zhs.1	P59541		ENST00000539585.1:c.598T>C	12.37:g.11286246A>G	ENSP00000444736:p.Cys200Arg					PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	p.C200R	NM_001097643	NP_001091112					1	598	-								Q645X7	Missense_Mutation	SNP	ENST00000539585.1	37	c.598T>C	CCDS53750.1	.	.	.	.	.	.	.	.	.	.	-	11.91	1.778295	0.31502	.	.	ENSG00000256188	ENST00000539585	T	0.34072	1.38	2.6	-2.22	0.06952	.	.	.	.	.	T	0.34948	0.0915	L	0.55481	1.735	0.09310	N	1	P	0.44195	0.828	P	0.50860	0.652	T	0.24404	-1.0161	9	0.46703	T	0.11	.	0.3903	0.00409	0.4173:0.2226:0.1428:0.2172	.	200	P59541	T2R30_HUMAN	R	200	ENSP00000444736:C200R	ENSP00000444736:C200R	C	-	1	0	TAS2R30	11177513	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	0.004000	0.13106	-0.604000	0.05760	0.260000	0.18958	TGT		0.428	TAS2R30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400238.1	NM_001097643	
SOAT2	8435	broad.mit.edu	37	12	53516999	53516999	+	Splice_Site	SNP	A	A	G			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr12:53516999A>G	ENST00000301466.3	+	13	1431	c.1371A>G	c.(1369-1371)ggA>ggG	p.G457G		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	457					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|intestinal cholesterol absorption (GO:0030299)|macrophage derived foam cell differentiation (GO:0010742)|very-low-density lipoprotein particle assembly (GO:0034379)	brush border (GO:0005903)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|transferase activity, transferring acyl groups (GO:0016746)			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18					Hesperetin(DB01094)	TTGTCATTGGAGGTGAGCTGG	0.582																																						uc001sbv.2																			0				ovary(1)	1						c.(1369-1371)GGA>GGG		acyl-CoA:cholesterol acyltransferase 2							197.0	155.0	170.0					12																	53516999		2203	4300	6503	SO:0001630	splice_region_variant	8435				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	g.chr12:53516999A>G	AF059203	CCDS8847.1	12q13.13	2012-09-20			ENSG00000167780	ENSG00000167780	2.3.1.26		11178	protein-coding gene	gene with protein product		601311				9756920	Standard	NM_003578		Approved	ACAT2	uc001sbv.3	O75908	OTTHUMG00000169774	ENST00000301466.3:c.1372+1A>G	12.37:g.53516999A>G						SOAT2_uc009zms.2_RNA	p.G457G	NM_003578	NP_003569	O75908	SOAT2_HUMAN			13	1459	+			457			Helical; (Potential).		F5H7W4|I6L9H9|Q4VB99|Q4VBA1|Q96TD4|Q9UNR2	Silent	SNP	ENST00000301466.3	37	c.1371A>G	CCDS8847.1																																																																																				0.582	SOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405817.1		Silent
CLYBL	171425	broad.mit.edu	37	13	100425088	100425088	+	Missense_Mutation	SNP	C	C	G			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr13:100425088C>G	ENST00000376360.1	+	2	100	c.73C>G	c.(73-75)Cta>Gta	p.L25V	CLYBL_ENST00000376355.3_Missense_Mutation_p.L25V|CLYBL_ENST00000339105.4_Missense_Mutation_p.L25V|CLYBL_ENST00000444838.2_Missense_Mutation_p.L25V|CLYBL_ENST00000376354.1_Missense_Mutation_p.L25V			Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	25						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|metal ion binding (GO:0046872)			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GAAAGCGTCTCTAGCAGCTGA	0.388																																						uc001vok.2																			0					0						c.(73-75)CTA>GTA		citrate lyase beta like precursor							138.0	131.0	134.0					13																	100425088		2203	4300	6503	SO:0001583	missense	171425				cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding	g.chr13:100425088C>G	AF428253	CCDS32002.1	13q32.3	2011-04-08			ENSG00000125246	ENSG00000125246			18355	protein-coding gene	gene with protein product		609686					Standard	XM_005254030		Approved	CLB	uc001vok.3	Q8N0X4	OTTHUMG00000017278	ENST00000376360.1:c.73C>G	13.37:g.100425088C>G	ENSP00000365538:p.Leu25Val					CLYBL_uc010tix.1_Missense_Mutation_p.L25V|CLYBL_uc010tiy.1_Missense_Mutation_p.L25V	p.L25V	NM_206808	NP_996531	Q8N0X4	CLYBL_HUMAN			2	87	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		25					Q5W0F7|Q8TDH8	Missense_Mutation	SNP	ENST00000376360.1	37	c.73C>G	CCDS32002.1	.	.	.	.	.	.	.	.	.	.	C	6.086	0.384200	0.11524	.	.	ENSG00000125246	ENST00000376355;ENST00000376360;ENST00000444838;ENST00000376354;ENST00000339105	T;T;T;T;T	0.23754	1.89;1.93;1.9;1.89;1.93	5.0	3.2	0.36748	.	0.968199	0.08537	N	0.931196	T	0.15739	0.0379	N	0.08118	0	0.09310	N	1	B;B;B	0.26809	0.131;0.16;0.043	B;B;B	0.33690	0.027;0.168;0.016	T	0.37596	-0.9699	10	0.30078	T	0.28	.	8.2235	0.31556	0.0:0.7575:0.1587:0.0838	.	25;25;25	B4DU60;Q8N0X4-2;Q8N0X4	.;.;CLYBL_HUMAN	V	25	ENSP00000365533:L25V;ENSP00000365538:L25V;ENSP00000404768:L25V;ENSP00000365532:L25V;ENSP00000342991:L25V	ENSP00000342991:L25V	L	+	1	2	CLYBL	99223089	0.843000	0.29541	0.001000	0.08648	0.068000	0.16541	1.627000	0.37050	1.060000	0.40578	0.462000	0.41574	CTA		0.388	CLYBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045611.1		
ALDH6A1	4329	broad.mit.edu	37	14	74534253	74534253	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr14:74534253A>G	ENST00000553458.1	-	8	970	c.872T>C	c.(871-873)gTa>gCa	p.V291A	ALDH6A1_ENST00000555126.1_Missense_Mutation_p.V8A|ALDH6A1_ENST00000350259.4_Missense_Mutation_p.V278A|AC005484.5_ENST00000492026.1_RNA|CCDC176_ENST00000553773.1_Intron	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	291					branched-chain amino acid catabolic process (GO:0009083)|brown fat cell differentiation (GO:0050873)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|thymine metabolic process (GO:0019859)|valine catabolic process (GO:0006574)|valine metabolic process (GO:0006573)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	fatty-acyl-CoA binding (GO:0000062)|malonate-semialdehyde dehydrogenase (acetylating) activity (GO:0018478)|methylmalonate-semialdehyde dehydrogenase (acylating) activity (GO:0004491)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)		TGGCATGACTACCCCATGGTT	0.478																																						uc001xpo.2																			0					0						c.(871-873)GTA>GCA		aldehyde dehydrogenase 6A1 precursor	NADH(DB00157)						69.0	69.0	69.0					14																	74534253		2203	4300	6503	SO:0001583	missense	4329					mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity	g.chr14:74534253A>G	M93405	CCDS9826.1, CCDS61501.1	14q24.3	2014-02-03			ENSG00000119711	ENSG00000119711	1.2.1.27	"""Aldehyde dehydrogenases"""	7179	protein-coding gene	gene with protein product		603178		MMSDH		1527093	Standard	NM_005589		Approved		uc001xpo.3	Q02252	OTTHUMG00000171203	ENST00000553458.1:c.872T>C	14.37:g.74534253A>G	ENSP00000450436:p.Val291Ala					C14orf45_uc001xpm.1_Intron|ALDH6A1_uc010asa.2_Missense_Mutation_p.V136A|ALDH6A1_uc010tuq.1_Missense_Mutation_p.V278A	p.V291A	NM_005589	NP_005580	Q02252	MMSA_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00354)	8	971	-			291					B2R609|B4DFS8|J3KNU8|Q9UKM8	Missense_Mutation	SNP	ENST00000553458.1	37	c.872T>C	CCDS9826.1	.	.	.	.	.	.	.	.	.	.	A	17.17	3.321994	0.60634	.	.	ENSG00000119711	ENST00000553458;ENST00000350259;ENST00000555126	D;D;D	0.91740	-2.9;-2.9;-2.9	5.93	5.93	0.95920	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.96300	0.8793	M	0.89715	3.055	0.80722	D	1	D;D	0.55800	0.973;0.973	P;P	0.60541	0.876;0.876	D	0.96316	0.9232	10	0.48119	T	0.1	.	16.3871	0.83514	1.0:0.0:0.0:0.0	.	278;291	B4DFS8;Q02252	.;MMSA_HUMAN	A	291;278;8	ENSP00000450436:V291A;ENSP00000342564:V278A;ENSP00000452081:V8A	ENSP00000342564:V291A	V	-	2	0	ALDH6A1	73604006	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.324000	0.96373	2.270000	0.75569	0.482000	0.46254	GTA		0.478	ALDH6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412309.1		
LTBP2	4053	broad.mit.edu	37	14	75078642	75078642	+	Silent	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr14:75078642C>T	ENST00000261978.4	-	1	392	c.6G>A	c.(4-6)agG>agA	p.R2R	LTBP2_ENST00000557425.1_Intron|CTD-2207P18.2_ENST00000556652.1_lincRNA|LTBP2_ENST00000556690.1_Silent_p.R2R	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	2					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TGGTCCGCGGCCTCATGGCGC	0.756																																						uc001xqa.2																			0				liver(1)|skin(1)	2						c.(4-6)AGG>AGA		latent transforming growth factor beta binding							4.0	6.0	6.0					14																	75078642		1706	3653	5359	SO:0001819	synonymous_variant	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:75078642C>T		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.6G>A	14.37:g.75078642C>T							p.R2R	NM_000428	NP_000419	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	1	393	-			2					Q99907|Q9NS51	Silent	SNP	ENST00000261978.4	37	c.6G>A	CCDS9831.1																																																																																				0.756	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428	
GABRB3	2562	broad.mit.edu	37	15	26812728	26812728	+	Splice_Site	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr15:26812728C>T	ENST00000311550.5	-	7	946	c.835G>A	c.(835-837)Ggg>Agg	p.G279R	GABRB3_ENST00000400188.3_Splice_Site_p.G208R|GABRB3_ENST00000299267.4_Splice_Site_p.G279R|GABRB3_ENST00000545868.1_Splice_Site_p.G194R|GABRB3_ENST00000541819.2_Splice_Site_p.G335R	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	279					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|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)|GABA-gated chloride ion channel activity (GO:0022851)	p.G279R(2)|p.G335R(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	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)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TAGCACATACCGAGGGCAACT	0.373																																						uc001zaz.2																			3	Substitution - Missense(3)		cervix(3)	upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5						c.(835-837)GGG>AGG		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						90.0	81.0	84.0					15																	26812728		2203	4300	6503	SO:0001630	splice_region_variant	2562				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.chr15:26812728C>T		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.835+1G>A	15.37:g.26812728C>T						GABRB3_uc010uae.1_Missense_Mutation_p.G194R|GABRB3_uc001zba.2_Missense_Mutation_p.G279R|GABRB3_uc001zbb.2_Missense_Mutation_p.G335R	p.G279R	NM_000814	NP_000805	P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	7	977	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	279			Helical; (Probable).		B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	c.835G>A	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.399307	0.83120	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	D;D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51;-2.51	6.06	6.06	0.98353	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.96796	0.8954	H	0.96943	3.91	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97388	0.9987	9	.	.	.	.	19.6125	0.95613	0.0:1.0:0.0:0.0	.	335;279;279	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	R	279;335;279;208;194	ENSP00000308725:G279R;ENSP00000442408:G335R;ENSP00000299267:G279R;ENSP00000383049:G208R;ENSP00000439169:G194R	.	G	-	1	0	GABRB3	24363821	1.000000	0.71417	0.980000	0.43619	0.398000	0.30690	7.707000	0.84623	2.879000	0.98667	0.650000	0.86243	GGG		0.373	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2		Missense_Mutation
ALDH1A2	8854	broad.mit.edu	37	15	58306465	58306465	+	Silent	SNP	G	G	A	rs374228229		TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr15:58306465G>A	ENST00000249750.4	-	2	899	c.132C>T	c.(130-132)aaC>aaT	p.N44N	ALDH1A2_ENST00000558231.1_Silent_p.N15N|ALDH1A2_ENST00000559517.1_5'Flank|ALDH1A2_ENST00000537372.1_Silent_p.N23N|ALDH1A2_ENST00000347587.3_Silent_p.N44N	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	44					9-cis-retinoic acid biosynthetic process (GO:0042904)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|cardiac muscle tissue development (GO:0048738)|cellular response to retinoic acid (GO:0071300)|determination of bilateral symmetry (GO:0009855)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract development (GO:0048566)|embryonic forelimb morphogenesis (GO:0035115)|face development (GO:0060324)|heart morphogenesis (GO:0003007)|hindbrain development (GO:0030902)|kidney development (GO:0001822)|liver development (GO:0001889)|lung development (GO:0030324)|midgut development (GO:0007494)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|neural crest cell development (GO:0014032)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|proximal/distal pattern formation (GO:0009954)|regulation of endothelial cell proliferation (GO:0001936)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to vitamin A (GO:0033189)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)|retinoic acid receptor signaling pathway (GO:0048384)|retinol metabolic process (GO:0042572)|ureter maturation (GO:0035799)|vitamin A metabolic process (GO:0006776)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|retinal binding (GO:0016918)|retinal dehydrogenase activity (GO:0001758)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	Tretinoin(DB00755)|Vitamin A(DB00162)	TCTGCCACTCGTTGTTTATAA	0.453																																						uc002aex.2																			0				central_nervous_system(1)	1						c.(130-132)AAC>AAT		aldehyde dehydrogenase 1A2 isoform 1	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	G	,,	1,4383	2.1+/-5.4	0,1,2191	87.0	84.0	85.0		69,132,132	0.8	1.0	15		85	0,8584		0,0,4292	no	coding-synonymous,coding-synonymous,coding-synonymous	ALDH1A2	NM_001206897.1,NM_003888.3,NM_170696.2	,,	0,1,6483	AA,AG,GG		0.0,0.0228,0.0077	,,	23/498,44/519,44/481	58306465	1,12967	2192	4292	6484	SO:0001819	synonymous_variant	8854				negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity	g.chr15:58306465G>A	AB015228	CCDS10163.1, CCDS10164.1, CCDS45266.1, CCDS55968.1	15q21.2	2011-02-18			ENSG00000128918	ENSG00000128918		"""Aldehyde dehydrogenases"""	15472	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 2"""	603687				9819382	Standard	NM_003888		Approved	RALDH2	uc002aex.3	O94788	OTTHUMG00000132624	ENST00000249750.4:c.132C>T	15.37:g.58306465G>A						ALDH1A2_uc002aey.2_Silent_p.N44N|ALDH1A2_uc010ugv.1_Silent_p.N23N|ALDH1A2_uc010ugw.1_Silent_p.N15N|ALDH1A2_uc002aew.2_5'Flank	p.N44N	NM_003888	NP_003879	O94788	AL1A2_HUMAN		GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	2	190	-			44					B3KY52|B4DZR2|F5H2Y9|H0YM00|Q2PJS6|Q8NHQ4|Q9UBR8|Q9UFY0	Silent	SNP	ENST00000249750.4	37	c.132C>T	CCDS10163.1																																																																																				0.453	ALDH1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255869.1		
CIB1	10519	broad.mit.edu	37	15	90775506	90775506	+	Missense_Mutation	SNP	G	G	A	rs369465701		TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr15:90775506G>A	ENST00000328649.6	-	3	301	c.140C>T	c.(139-141)tCg>tTg	p.S47L	GDPGP1_ENST00000558017.1_5'Flank	NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	calcium and integrin binding 1 (calmyrin)	47					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to growth factor stimulus (GO:0071363)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to tumor necrosis factor (GO:0071356)|cytoplasmic microtubule organization (GO:0031122)|double-strand break repair (GO:0006302)|endomitotic cell cycle (GO:0007113)|extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|platelet formation (GO:0030220)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of male germ cell proliferation (GO:2000256)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell division (GO:0051302)|regulation of cell proliferation (GO:0042127)|response to ischemia (GO:0002931)|spermatid development (GO:0007286)|thrombopoietin-mediated signaling pathway (GO:0038163)	cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|protein anchor (GO:0043495)|Ras GTPase binding (GO:0017016)			lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			CCGAAGTGACGACTCCACGCT	0.612													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18503	0.0		0.0	False		,,,				2504	0.0					uc002bpb.3																			0					0						c.(139-141)TCG>TTG		calcium and integrin binding 1		G	LEU/SER	0,4398		0,0,2199	90.0	83.0	86.0		140	3.1	1.0	15		86	1,8595	1.2+/-3.3	0,1,4297	no	missense	CIB1	NM_006384.3	145	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	benign	47/192	90775506	1,12993	2199	4298	6497	SO:0001583	missense	10519				apoptosis|cell adhesion|double-strand break repair	apical plasma membrane|endoplasmic reticulum|filopodium|nucleoplasm	calcium ion binding|protein binding	g.chr15:90775506G>A	U82226	CCDS10360.1, CCDS73781.1	15q25.3-q26	2013-01-10			ENSG00000185043	ENSG00000185043		"""EF-hand domain containing"""	16920	protein-coding gene	gene with protein product		602293				9030514, 10826701	Standard	NM_006384		Approved	SIP2-28, CALMYRIN, CIB, KIP	uc031qtq.1	Q99828	OTTHUMG00000149808	ENST00000328649.6:c.140C>T	15.37:g.90775506G>A	ENSP00000333873:p.Ser47Leu					C15orf58_uc002bpc.2_5'Flank	p.S47L	NM_006384	NP_006375	Q99828	CIB1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)		3	302	-	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		47					B5BU40|H6WJF3|O00693|O00735|Q6IB49|Q96J54|Q99971	Missense_Mutation	SNP	ENST00000328649.6	37	c.140C>T	CCDS10360.1	.	.	.	.	.	.	.	.	.	.	G	6.892	0.534107	0.13188	0.0	1.16E-4	ENSG00000185043	ENST00000328649	T	0.08458	3.09	5.43	3.12	0.35913	EF-hand-like domain (1);	0.633514	0.17526	N	0.171072	T	0.04815	0.0130	N	0.08118	0	0.22629	N	0.998918	B	0.16396	0.017	B	0.12837	0.008	T	0.38672	-0.9650	10	0.38643	T	0.18	-9.6563	10.9453	0.47297	0.0:0.0:0.3038:0.6962	.	47	Q99828	CIB1_HUMAN	L	47	ENSP00000333873:S47L	ENSP00000333873:S47L	S	-	2	0	CIB1	88576510	0.335000	0.24748	0.981000	0.43875	0.047000	0.14425	2.168000	0.42424	0.493000	0.27837	-1.142000	0.01873	TCG		0.612	CIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313419.1		
HS3ST6	64711	broad.mit.edu	37	16	1962053	1962053	+	Silent	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr16:1962053G>A	ENST00000293937.3	-	2	566	c.567C>T	c.(565-567)tcC>tcT	p.S189S	HS3ST6_ENST00000454677.2_Silent_p.S206S|HS3ST6_ENST00000443547.1_Silent_p.S158S			Q96QI5	HS3S6_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 6	189					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			endometrium(2)|lung(2)	4						GGGCGTAGTCGGAGATGGCCC	0.721																																						uc002cnf.2																			0					0						c.(472-474)TCC>TCT		heparan sulfate (glucosamine)							18.0	22.0	21.0					16																	1962053		2193	4297	6490	SO:0001819	synonymous_variant	64711							g.chr16:1962053G>A			16p13.3	2008-10-30	2003-06-11	2003-06-13	ENSG00000162040	ENSG00000162040		"""Sulfotransferases, membrane-bound"""	14178	protein-coding gene	gene with protein product			"""heparan sulfate (glucosamine) 3-O-sulfotransferase 5"""	HS3ST5		11157797	Standard	NM_001009606		Approved		uc002cnf.3	Q96QI5	OTTHUMG00000047860	ENST00000293937.3:c.567C>T	16.37:g.1962053G>A							p.S158S	NM_001009606	NP_001009606	C9JH64	C9JH64_HUMAN			2	474	-			158					Q96RX7	Silent	SNP	ENST00000293937.3	37	c.474C>T																																																																																					0.721	HS3ST6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001009606	
GDPD3	79153	broad.mit.edu	37	16	30124034	30124036	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr16:30124034_30124036delTCA	ENST00000406256.3	-	3	638_640	c.261_263delTGA	c.(259-264)gatgag>gag	p.D87del	MAPK3_ENST00000494643.1_5'Flank|RP11-455F5.4_ENST00000566190.1_RNA	NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	87	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						GCACAGGTTCTCATCATGTGACA	0.645											OREG0023731	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002dwp.2																			0					0						c.(259-264)GATGAG>GAG		glycerophosphodiester phosphodiesterase domain																																				SO:0001651	inframe_deletion	79153				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr16:30124034_30124036delTCA	AK026256	CCDS10671.2	16p11.2	2008-02-05			ENSG00000102886	ENSG00000102886			28638	protein-coding gene	gene with protein product							Standard	NM_024307		Approved	MGC4171	uc002dwp.3	Q7L5L3	OTTHUMG00000132106	ENST00000406256.3:c.261_263delTGA	16.37:g.30124037_30124039delTCA	ENSP00000384363:p.Asp87del		OREG0023731	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	814	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|GDPD3_uc002dwq.2_In_Frame_Del_p.D25del|LOC100271831_uc010vei.1_5'Flank	p.D87del	NM_024307	NP_077283	Q7L5L3	GDPD3_HUMAN			3	340_342	-			87			Extracellular (Potential).|GDPD.		Q9H652	In_Frame_Del	DEL	ENST00000406256.3	37	c.261_263delTGA	CCDS10671.2																																																																																				0.645	GDPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255144.1	NM_024307	
CHD9	80205	broad.mit.edu	37	16	53308187	53308187	+	Missense_Mutation	SNP	A	A	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr16:53308187A>T	ENST00000398510.3	+	23	5027	c.4940A>T	c.(4939-4941)cAg>cTg	p.Q1647L	CHD9_ENST00000566029.1_Missense_Mutation_p.Q1647L|CHD9_ENST00000447540.1_Missense_Mutation_p.Q1647L|CHD9_ENST00000564845.1_Missense_Mutation_p.Q1647L			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1647					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AATGAGTGTCAGAAAGTATTT	0.348																																						uc002ehb.2																			0				lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7						c.(4939-4941)CAG>CTG		chromodomain helicase DNA binding protein 9							129.0	110.0	116.0					16																	53308187		1836	4097	5933	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53308187A>T	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.4940A>T	16.37:g.53308187A>T	ENSP00000381522:p.Gln1647Leu					CHD9_uc002egy.2_Missense_Mutation_p.Q1647L|CHD9_uc002ehc.2_Missense_Mutation_p.Q1647L|CHD9_uc002ehf.2_Missense_Mutation_p.Q761L|CHD9_uc010cbw.2_Missense_Mutation_p.Q15L	p.Q1647L	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN			23	5104	+		all_cancers(37;0.0212)	1647					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.4940A>T		.	.	.	.	.	.	.	.	.	.	A	17.99	3.522859	0.64747	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	D;D	0.89415	-2.51;-2.51	5.6	5.6	0.85130	.	0.000000	0.53938	D	0.000051	D	0.86573	0.5965	L	0.54323	1.7	0.80722	D	1	B;B;B;B	0.33694	0.421;0.029;0.281;0.403	B;B;B;B	0.33042	0.075;0.039;0.075;0.157	D	0.85158	0.0990	10	0.36615	T	0.2	-8.3297	15.4445	0.75220	1.0:0.0:0.0:0.0	.	15;1647;1647;1647	C9JR69;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	L	1647;1647;15	ENSP00000396345:Q1647L;ENSP00000381522:Q1647L	ENSP00000381522:Q1647L	Q	+	2	0	CHD9	51865688	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.859000	0.92264	2.136000	0.66102	0.460000	0.39030	CAG		0.348	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134	
MFSD6L	162387	broad.mit.edu	37	17	8702398	8702398	+	Missense_Mutation	SNP	C	C	A	rs551590102		TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr17:8702398C>A	ENST00000329805.4	-	1	269	c.41G>T	c.(40-42)gGg>gTg	p.G14V		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	14						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						CTTGGCCACCCCCAGCGCCCT	0.726																																						uc002glp.1																			0				central_nervous_system(1)	1						c.(40-42)GGG>GTG		major facilitator superfamily domain containing							21.0	23.0	22.0					17																	8702398		2198	4288	6486	SO:0001583	missense	162387					integral to membrane		g.chr17:8702398C>A	AK093092	CCDS11146.1	17p13.1	2014-05-30			ENSG00000185156	ENSG00000185156			26656	protein-coding gene	gene with protein product							Standard	NM_152599		Approved	FLJ35773	uc002glp.2	Q8IWD5	OTTHUMG00000178584	ENST00000329805.4:c.41G>T	17.37:g.8702398C>A	ENSP00000330051:p.Gly14Val						p.G14V	NM_152599	NP_689812	Q8IWD5	MFS6L_HUMAN			1	189	-			14					Q6YL34|Q8NA76	Missense_Mutation	SNP	ENST00000329805.4	37	c.41G>T	CCDS11146.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.578458	0.28180	.	.	ENSG00000185156	ENST00000329805	T	0.80033	-1.33	4.37	-0.0586	0.13796	Major facilitator superfamily domain, general substrate transporter (1);	1.522090	0.03919	N	0.283319	T	0.60090	0.2242	N	0.14661	0.345	0.24145	N	0.995711	B	0.30763	0.294	B	0.22152	0.038	T	0.51364	-0.8715	10	0.24483	T	0.36	-0.0598	1.6585	0.02786	0.1387:0.3263:0.3322:0.2028	.	14	Q8IWD5	MFS6L_HUMAN	V	14	ENSP00000330051:G14V	ENSP00000330051:G14V	G	-	2	0	MFSD6L	8643123	0.053000	0.20554	0.988000	0.46212	0.791000	0.44710	1.547000	0.36190	0.475000	0.27415	0.585000	0.79938	GGG		0.726	MFSD6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442554.1	NM_152599	
SREBF1	6720	broad.mit.edu	37	17	17721038	17721038	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr17:17721038G>T	ENST00000261646.5	-	7	1560	c.1376C>A	c.(1375-1377)cCt>cAt	p.P459H	SREBF1_ENST00000435530.2_Missense_Mutation_p.P459H|SREBF1_ENST00000355815.4_Missense_Mutation_p.P489H|SREBF1_ENST00000395757.1_Missense_Mutation_p.P205H|SREBF1_ENST00000583732.1_5'Flank|SREBF1_ENST00000338854.5_Missense_Mutation_p.P459H	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	459	Gly/Pro/Ser-rich.|Interaction with LMNA. {ECO:0000250}.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						TGGGCTGTCAGGCTCCGAGTC	0.657																																						uc002gru.1																			0				skin(1)	1						c.(1375-1377)CCT>CAT		sterol regulatory element binding transcription							45.0	35.0	38.0					17																	17721038		2203	4297	6500	SO:0001583	missense	6720				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding	g.chr17:17721038G>T	BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"""Basic helix-loop-helix proteins"""	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.1376C>A	17.37:g.17721038G>T	ENSP00000261646:p.Pro459His					SREBF1_uc002grp.1_Missense_Mutation_p.L29M|SREBF1_uc002grq.1_Translation_Start_Site|SREBF1_uc002grr.1_Missense_Mutation_p.P205H|SREBF1_uc002grs.1_Missense_Mutation_p.P435H|SREBF1_uc002grt.1_Missense_Mutation_p.P489H|SREBF1_uc010cpp.1_Missense_Mutation_p.P435H|SREBF1_uc010cpq.1_Missense_Mutation_p.P459H	p.P459H	NM_004176	NP_004167	P36956	SRBP1_HUMAN			7	1570	-			459			Gly/Pro/Ser-rich.|Cytoplasmic (Potential).|Interaction with LMNA (By similarity).		B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Missense_Mutation	SNP	ENST00000261646.5	37	c.1376C>A	CCDS11189.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.1|24.1	4.494526|4.494526	0.85069|0.85069	.|.	.|.	ENSG00000072310|ENSG00000072310	ENST00000395756|ENST00000338854;ENST00000355815;ENST00000261646;ENST00000395757;ENST00000418712;ENST00000423161;ENST00000435530	.|T;T;T;T;D	.|0.96651	.|0.15;0.19;0.2;0.72;-4.08	4.83|4.83	4.83|4.83	0.62350|0.62350	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97983|0.97983	0.9336|0.9336	M|M	0.79011|0.79011	2.435|2.435	0.80722|0.80722	D|D	1|1	P|D;D;D;D	0.46220|0.89917	0.874|1.0;1.0;1.0;1.0	P|D;D;D;D	0.48141|0.97110	0.568|0.998;0.998;0.999;1.0	D|D	0.99129|0.99129	1.0852|1.0852	8|10	0.87932|0.87932	D|D	0|0	-17.0705|-17.0705	17.5399|17.5399	0.87844|0.87844	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	29|459;435;459;489	A8MTU8|B0I4X3;B0I4X4;P36956;P36956-4	.|.;.;SRBP1_HUMAN;.	M|H	29|459;489;459;205;296;385;459	.|ENSP00000345822:P459H;ENSP00000348069:P489H;ENSP00000261646:P459H;ENSP00000379106:P205H;ENSP00000413389:P459H	ENSP00000379105:L29M|ENSP00000261646:P459H	L|P	-|-	1|2	2|0	SREBF1|SREBF1	17661763|17661763	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.640000|0.640000	0.38277|0.38277	9.593000|9.593000	0.98250|0.98250	2.250000|2.250000	0.74265|0.74265	0.561000|0.561000	0.74099|0.74099	CTG|CCT		0.657	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131771.1	NM_004176	
RGS9	8787	broad.mit.edu	37	17	63221294	63221294	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr17:63221294G>A	ENST00000262406.9	+	18	1649	c.1582G>A	c.(1582-1584)Gtg>Atg	p.V528M	RGS9_ENST00000449996.3_Missense_Mutation_p.V525M|RGS9_ENST00000443584.3_Missense_Mutation_p.V525M	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	528				RVALE -> LVVLD (in Ref. 7; AAC25430). {ECO:0000305}.	dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						ACCCATCAGAGTGGCCTTGGA	0.677																																						uc002jfe.2																			0				ovary(2)|skin(2)	4						c.(1582-1584)GTG>ATG		regulator of G-protein signaling 9 isoform 1							95.0	108.0	104.0					17																	63221294		2067	4202	6269	SO:0001583	missense	8787				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr17:63221294G>A	AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"""Regulators of G-protein signaling"""	10004	protein-coding gene	gene with protein product	"""regulator of G protein signalling 9"", ""regulator of G protein signalling 9L"", ""regulator of G-protein signaling 9L"""	604067	"""regulator of G-protein signalling 9"""			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.1582G>A	17.37:g.63221294G>A	ENSP00000262406:p.Val528Met					RGS9_uc010dem.2_Missense_Mutation_p.V525M|RGS9_uc002jfd.2_Missense_Mutation_p.V525M|RGS9_uc002jff.2_RNA|RGS9_uc002jfg.2_Missense_Mutation_p.V299M	p.V528M	NM_003835	NP_003826	O75916	RGS9_HUMAN			18	1692	+			528	RVALE -> LVVLD (in Ref. 7; AAC25430).				A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Missense_Mutation	SNP	ENST00000262406.9	37	c.1582G>A	CCDS42373.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.894071	0.33442	.	.	ENSG00000108370	ENST00000262406;ENST00000449996	T;T	0.36878	1.24;1.23	4.56	3.59	0.41128	.	0.214011	0.40469	N	0.001093	T	0.30727	0.0774	L	0.49350	1.555	0.30894	N	0.730018	B;B;B	0.26195	0.001;0.089;0.144	B;B;B	0.26094	0.003;0.03;0.066	T	0.29671	-1.0004	10	0.42905	T	0.14	.	8.8021	0.34916	0.2287:0.0:0.7713:0.0	.	528;528;525	A8K1G1;O75916;O75916-5	.;RGS9_HUMAN;.	M	528;525	ENSP00000262406:V528M;ENSP00000396329:V525M	ENSP00000262406:V528M	V	+	1	0	RGS9	60651756	0.956000	0.32656	0.318000	0.25279	0.968000	0.65278	1.425000	0.34859	1.217000	0.43442	0.561000	0.74099	GTG		0.677	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445885.1	NM_003835	
SERPINB2	5055	broad.mit.edu	37	18	61570323	61570323	+	Silent	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr18:61570323G>A	ENST00000299502.4	+	8	1112	c.1032G>A	c.(1030-1032)tcG>tcA	p.S344S	SERPINB2_ENST00000457692.1_Silent_p.S344S	NM_002575.2	NP_002566.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	344					blood coagulation (GO:0007596)|fibrinolysis (GO:0042730)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.S344S(1)		NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Tenecteplase(DB00031)|Urokinase(DB00013)	CAGGGATGTCGGAGAGGAATG	0.498																																						uc010xeu.1																			1	Substitution - coding silent(1)		large_intestine(1)	lung(1)|skin(1)	2						c.(1030-1032)TCG>TCA		serine (or cysteine) proteinase inhibitor, clade	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)						137.0	111.0	120.0					18																	61570323		2203	4300	6503	SO:0001819	synonymous_variant	5055				anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr18:61570323G>A	Y00630	CCDS11989.1	18q21.3	2014-02-18	2005-08-18		ENSG00000197632	ENSG00000197632		"""Serine (or cysteine) peptidase inhibitors"""	8584	protein-coding gene	gene with protein product		173390	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 2"""	PLANH2, PAI2		24172014	Standard	NM_002575		Approved	HsT1201	uc002ljo.3	P05120	OTTHUMG00000060592	ENST00000299502.4:c.1032G>A	18.37:g.61570323G>A						SERPINB2_uc002ljo.2_Silent_p.S344S|SERPINB2_uc010dqh.2_Silent_p.S274S|SERPINB2_uc002ljp.1_Intron|SERPINB2_uc002ljq.1_Intron	p.S344S	NM_001143818	NP_001137290	P05120	PAI2_HUMAN			9	1365	+		Esophageal squamous(42;0.131)	344					Q96E96	Silent	SNP	ENST00000299502.4	37	c.1032G>A	CCDS11989.1																																																																																				0.498	SERPINB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134009.1	NM_002575	
ADNP2	22850	broad.mit.edu	37	18	77895050	77895050	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr18:77895050G>A	ENST00000262198.4	+	4	2209	c.1754G>A	c.(1753-1755)gGt>gAt	p.G585D		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	585					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		GTGAGACCTGGTGCTTCGCAG	0.552																																						uc002lnw.2																			0				ovary(4)|breast(3)|central_nervous_system(1)	8						c.(1753-1755)GGT>GAT		ADNP homeobox 2							104.0	99.0	101.0					18																	77895050		2203	4300	6503	SO:0001583	missense	22850				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:77895050G>A	AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	23803	protein-coding gene	gene with protein product			"""zinc finger protein 508"""	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.1754G>A	18.37:g.77895050G>A	ENSP00000262198:p.Gly585Asp						p.G585D	NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)	4	2209	+		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)	585					A8K951|O94943|Q9H9P3	Missense_Mutation	SNP	ENST00000262198.4	37	c.1754G>A	CCDS32853.1	.	.	.	.	.	.	.	.	.	.	G	5.059	0.196634	0.09599	.	.	ENSG00000101544	ENST00000262198	.	.	.	5.07	4.18	0.49190	.	0.178983	0.37348	N	0.002125	T	0.31071	0.0785	L	0.27053	0.805	0.09310	N	1	P	0.49783	0.928	P	0.45829	0.494	T	0.10870	-1.0611	8	.	.	.	-14.6276	15.1176	0.72416	0.0:0.2849:0.7151:0.0	.	585	Q6IQ32	ADNP2_HUMAN	D	585	.	.	G	+	2	0	ADNP2	75996041	0.701000	0.27806	0.038000	0.18304	0.066000	0.16364	2.503000	0.45407	1.335000	0.45486	0.650000	0.86243	GGT		0.552	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913	
VAV1	7409	broad.mit.edu	37	19	6828672	6828672	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr19:6828672G>A	ENST00000602142.1	+	12	1214	c.1132G>A	c.(1132-1134)Gag>Aag	p.E378K	VAV1_ENST00000596764.1_Missense_Mutation_p.E346K|VAV1_ENST00000539284.1_Missense_Mutation_p.E281K|VAV1_ENST00000599806.1_Missense_Mutation_p.E323K|VAV1_ENST00000304076.2_Missense_Mutation_p.E378K	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	378					apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GCGAGACAACGAGACACTGCG	0.637																																						uc002mfu.1																			0				lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1)	16						c.(1132-1134)GAG>AAG		vav 1 guanine nucleotide exchange factor							133.0	132.0	132.0					19																	6828672		2203	4300	6503	SO:0001583	missense	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6828672G>A		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.1132G>A	19.37:g.6828672G>A	ENSP00000472929:p.Glu378Lys					VAV1_uc010xjh.1_Missense_Mutation_p.E346K|VAV1_uc010dva.1_Missense_Mutation_p.E378K|VAV1_uc002mfv.1_Missense_Mutation_p.E323K	p.E378K	NM_005428	NP_005419	P15498	VAV_HUMAN			12	1229	+			378					B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	37	c.1132G>A	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	G	35	5.580398	0.96565	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T;T	0.74632	-0.61;-0.86	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.85115	0.5623	M	0.85299	2.745	0.80722	D	1	D;D;D;D	0.67145	0.991;0.979;0.996;0.996	P;B;P;P	0.57057	0.565;0.44;0.812;0.812	D	0.87905	0.2693	10	0.87932	D	0	.	16.4086	0.83699	0.0:0.0:1.0:0.0	.	281;378;323;378	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	K	378;281	ENSP00000302269:E378K;ENSP00000443242:E281K	ENSP00000302269:E378K	E	+	1	0	VAV1	6779672	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.723000	0.91458	2.484000	0.83849	0.591000	0.81541	GAG		0.637	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1		
MUC16	94025	broad.mit.edu	37	19	9014654	9014654	+	Missense_Mutation	SNP	C	C	T	rs548938808	byFrequency	TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr19:9014654C>T	ENST00000397910.4	-	31	38524	c.38321G>A	c.(38320-38322)cGt>cAt	p.R12774H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12776	SEA 5. {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)				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						GGGGTCAAGACGGTGGGTGCA	0.567													-|||	2	0.000399361	0.0008	0.0	5008	,	,		18194	0.0		0.0	False		,,,				2504	0.001					uc002mkp.2																			0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(38320-38322)CGT>CAT		mucin 16							66.0	53.0	57.0					19																	9014654		1809	4040	5849	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9014654C>T	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.38321G>A	19.37:g.9014654C>T	ENSP00000381008:p.Arg12774His					MUC16_uc010xki.1_5'Flank	p.R12774H	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			31	38525	-			12776	Missing (in Ref. 3; AAK74120).		SEA 5.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.38321G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	10.56	1.385079	0.25031	.	.	ENSG00000181143	ENST00000397910	T	0.29397	1.57	3.03	-5.32	0.02722	.	.	.	.	.	T	0.20700	0.0498	L	0.37630	1.12	.	.	.	B	0.06786	0.001	B	0.04013	0.001	T	0.24083	-1.0170	8	0.87932	D	0	.	8.6369	0.33953	0.0:0.3055:0.0:0.6945	.	12774	B5ME49	.	H	12774	ENSP00000381008:R12774H	ENSP00000381008:R12774H	R	-	2	0	MUC16	8875654	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.947000	0.00328	-1.202000	0.02655	-1.872000	0.00552	CGT		0.567	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
IL27RA	9466	broad.mit.edu	37	19	14150321	14150321	+	Splice_Site	SNP	C	C	T	rs201645440		TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr19:14150321C>T	ENST00000263379.2	+	3	345	c.220C>T	c.(220-222)Cgt>Tgt	p.R74C		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	74					cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T-helper 1 type immune response (GO:0002827)|regulation of isotype switching to IgG isotypes (GO:0048302)	integral component of plasma membrane (GO:0005887)	interleukin-27 receptor activity (GO:0045509)|transmembrane signaling receptor activity (GO:0004888)			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						TCCTCACAGCCGTTCCAACAA	0.602																																					Colon(164;1849 1896 4443 37792 47834)	uc002mxx.2																			0					0						c.(220-222)CGT>TGT		class I cytokine receptor precursor							84.0	73.0	77.0					19																	14150321		2203	4300	6503	SO:0001630	splice_region_variant	9466				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	g.chr19:14150321C>T	AF053004	CCDS12303.1	19p13.11	2013-02-11				ENSG00000104998		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	17290	protein-coding gene	gene with protein product	"""T-cell cytokine receptor type 1"""	605350				9600072, 11057672	Standard	NM_004843		Approved	WSX-1, TCCR, CRL1, WSX1, zcytor1, IL-27R	uc002mxx.4	Q6UWB1		ENST00000263379.2:c.219-1C>T	19.37:g.14150321C>T							p.R74C	NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN			3	643	+			74			Extracellular (Potential).		A0N0L1|O60624	Missense_Mutation	SNP	ENST00000263379.2	37	c.220C>T	CCDS12303.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.949619	0.34377	.	.	ENSG00000104998	ENST00000263379	T	0.62105	0.05	4.55	4.55	0.56014	.	0.163104	0.29080	N	0.013215	T	0.44265	0.1285	N	0.14661	0.345	0.38376	D	0.944996	D	0.53151	0.958	B	0.40534	0.332	T	0.56517	-0.7966	10	0.59425	D	0.04	-6.6586	13.0301	0.58837	0.0:1.0:0.0:0.0	.	74	Q6UWB1	I27RA_HUMAN	C	74	ENSP00000263379:R74C	ENSP00000263379:R74C	R	+	1	0	IL27RA	14011321	0.808000	0.29022	0.903000	0.35520	0.029000	0.11900	2.143000	0.42187	2.536000	0.85505	0.561000	0.74099	CGT		0.602	IL27RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458539.1	NM_004843	Missense_Mutation
CPAMD8	27151	broad.mit.edu	37	19	17017818	17017818	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr19:17017818C>T	ENST00000443236.1	-	30	4143	c.4112G>A	c.(4111-4113)cGc>cAc	p.R1371H	RN7SL835P_ENST00000579920.1_RNA	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1324						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TGCCGGGCTGCGGAGCAGGGT	0.667																																						uc002nfb.2																			0				ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						c.(4111-4113)CGC>CAC		C3 and PZP-like, alpha-2-macroglobulin domain																																				SO:0001583	missense	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17017818C>T	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.4112G>A	19.37:g.17017818C>T	ENSP00000402505:p.Arg1371His						p.R1371H	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN			30	4144	-			1324					Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	c.4112G>A	CCDS42519.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.169|5.169	0.216840|0.216840	0.09810|0.09810	.|.	.|.	ENSG00000160111|ENSG00000160111	ENST00000443236|ENST00000291440	.|.	.|.	.|.	3.09|3.09	0.539|0.539	0.17156|0.17156	.|Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	.|0.384228	.|0.27023	.|N	.|0.021307	T|T	0.40546|0.40546	0.1121|0.1121	L|L	0.35723|0.35723	1.085|1.085	0.80722|0.80722	D|D	1|1	.|B	.|0.17268	.|0.021	.|B	.|0.12156	.|0.007	T|T	0.11891|0.11891	-1.0569|-1.0569	5|9	.|0.30854	.|T	.|0.27	.|.	7.0603|7.0603	0.25121|0.25121	0.0:0.5714:0.0:0.4286|0.0:0.5714:0.0:0.4286	.|.	.|1324	.|Q8IZJ3	.|CPMD8_HUMAN	T|H	1382|1371	.|.	.|ENSP00000291440:R1371H	A|R	-|-	1|2	0|0	CPAMD8|CPAMD8	16878818|16878818	0.999000|0.999000	0.42202|0.42202	0.984000|0.984000	0.44739|0.44739	0.110000|0.110000	0.19582|0.19582	0.468000|0.468000	0.22051|0.22051	0.316000|0.316000	0.23135|0.23135	-0.274000|-0.274000	0.10170|0.10170	GCA|CGC		0.667	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692	
ABHD8	79575	broad.mit.edu	37	19	17411828	17411828	+	Missense_Mutation	SNP	G	G	A	rs371098180		TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr19:17411828G>A	ENST00000247706.3	-	2	837	c.598C>T	c.(598-600)Cgc>Tgc	p.R200C	MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000594999.1_5'Flank	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	200							hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						TAGCCTAGGCGCACAAAGAAG	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		12938	0.0		0.0	False		,,,				2504	0.001				Ovarian(156;1368 2543 15275 41187)	uc002ngb.3																			0					0						c.(598-600)CGC>TGC		abhydrolase domain containing 8							66.0	76.0	73.0					19																	17411828		2203	4300	6503	SO:0001583	missense	79575						hydrolase activity	g.chr19:17411828G>A	AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"""Abhydrolase domain containing"""	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.598C>T	19.37:g.17411828G>A	ENSP00000247706:p.Arg200Cys						p.R200C	NM_024527	NP_078803	Q96I13	ABHD8_HUMAN			2	838	-			200					Q9HAE9	Missense_Mutation	SNP	ENST00000247706.3	37	c.598C>T	CCDS12355.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.247421	0.59103	.	.	ENSG00000127220	ENST00000247706;ENST00000544788	T	0.68181	-0.31	5.03	3.9	0.45041	.	0.124831	0.53938	D	0.000060	T	0.72914	0.3520	M	0.64997	1.995	0.20489	N	0.999899	D	0.76494	0.999	P	0.58970	0.849	T	0.64529	-0.6386	10	0.72032	D	0.01	-33.3607	9.1372	0.36881	0.0:0.1647:0.6856:0.1497	.	200	Q96I13	ABHD8_HUMAN	C	200;146	ENSP00000247706:R200C	ENSP00000247706:R200C	R	-	1	0	ABHD8	17272828	0.995000	0.38212	1.000000	0.80357	0.944000	0.59088	1.681000	0.37618	2.352000	0.79861	0.561000	0.74099	CGC		0.642	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462937.1	NM_024527	
LGALS14	56891	broad.mit.edu	37	19	40197279	40197279	+	Missense_Mutation	SNP	G	G	A	rs199912882		TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr19:40197279G>A	ENST00000392052.3	+	2	281	c.58G>A	c.(58-60)Gtg>Atg	p.V20M	LGALS14_ENST00000360675.3_Missense_Mutation_p.V49M	NM_020129.2	NP_064514.1	Q8TCE9	PPL13_HUMAN	lectin, galactoside-binding, soluble, 14	20	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)	nucleus (GO:0005634)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|stomach(2)	14	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)			TGGTTCGTGCGTGATAATCAC	0.498													G|||	1	0.000199681	0.0008	0.0	5008	,	,		22912	0.0		0.0	False		,,,				2504	0.0					uc002omg.2																			0				ovary(1)|skin(1)	2						c.(58-60)GTG>ATG		lectin, galactoside-binding, soluble, 14 isoform							278.0	214.0	235.0					19																	40197279		2203	4300	6503	SO:0001583	missense	56891					nucleus	sugar binding	g.chr19:40197279G>A	AF267852	CCDS12542.1, CCDS46073.1	19q13.2	2014-03-19			ENSG00000006659	ENSG00000006659		"""Lectins, galactoside-binding"""	30054	protein-coding gene	gene with protein product		607260				11997112	Standard	NM_020129		Approved	PPL13, CLC2	uc002omg.3	Q8TCE9	OTTHUMG00000183143	ENST00000392052.3:c.58G>A	19.37:g.40197279G>A	ENSP00000375905:p.Val20Met					LGALS14_uc002omf.2_Missense_Mutation_p.V49M	p.V20M	NM_020129	NP_064514	Q8TCE9	PPL13_HUMAN	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)		2	281	+	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	20			Galectin.		A8MPV8|B2R530|C5HZ19|Q7Z4X8|Q96KD4|Q96KD5|Q96KD6|Q9NR03	Missense_Mutation	SNP	ENST00000392052.3	37	c.58G>A	CCDS46073.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	.	10.46	1.356694	0.24598	.	.	ENSG00000006659	ENST00000392052;ENST00000360675	T;T	0.20598	2.06;2.06	0.906	-0.45	0.12223	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	T	0.42944	0.1225	M	0.85777	2.775	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.20207	-1.0282	9	0.87932	D	0	.	4.5174	0.11943	0.0:0.4188:0.5812:0.0	.	20;49	Q8TCE9;A8MPV8	PPL13_HUMAN;.	M	20;49	ENSP00000375905:V20M;ENSP00000353893:V49M	ENSP00000353893:V49M	V	+	1	0	LGALS14	44889119	0.030000	0.19436	0.005000	0.12908	0.021000	0.10359	-0.006000	0.12833	-0.107000	0.12088	0.313000	0.20887	GTG		0.498	LGALS14-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465222.1	NM_020129	
KLK5	25818	broad.mit.edu	37	19	51452018	51452018	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr19:51452018T>C	ENST00000336334.3	-	5	956	c.604A>G	c.(604-606)Aag>Gag	p.K202E	KLK5_ENST00000593428.1_Missense_Mutation_p.K202E|CTB-147C22.8_ENST00000594939.1_RNA|CTB-147C22.8_ENST00000601506.1_RNA|KLK5_ENST00000391809.2_Missense_Mutation_p.K202E	NM_012427.4	NP_036559	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	202	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				epidermis development (GO:0008544)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	epidermal lamellar body (GO:0097209)|extracellular space (GO:0005615)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		TGGAGGACCTTAGGGAAGTGC	0.502																																						uc002pue.2																			0					0						c.(604-606)AAG>GAG		kallikrein-related peptidase 5 preproprotein							110.0	100.0	103.0					19																	51452018		2203	4300	6503	SO:0001583	missense	25818				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr19:51452018T>C	AF135028	CCDS12810.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167754		"""Kallikreins"""	6366	protein-coding gene	gene with protein product		605643	"""kallikrein 5"""			10514489, 10608802, 1680072, 4, 16800723, 17012259	Standard	NM_012427		Approved	SCTE, KLK-L2	uc002puf.3	Q9Y337		ENST00000336334.3:c.604A>G	19.37:g.51452018T>C	ENSP00000337733:p.Lys202Glu					KLK5_uc002puf.2_Missense_Mutation_p.K202E|KLK5_uc002pug.2_Missense_Mutation_p.K202E	p.K202E	NM_001077491	NP_001070959	Q9Y337	KLK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)	6	822	-		all_neural(266;0.026)	202			Peptidase S1.		Q53ZR3|Q9HBG8	Missense_Mutation	SNP	ENST00000336334.3	37	c.604A>G	CCDS12810.1	.	.	.	.	.	.	.	.	.	.	t	7.059	0.566061	0.13560	.	.	ENSG00000167754	ENST00000336334;ENST00000391809	D;D	0.87966	-2.32;-2.32	4.67	-0.214	0.13161	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.240358	0.21333	U	0.076271	T	0.71576	0.3356	N	0.13168	0.305	0.09310	N	1	B	0.17852	0.024	B	0.22152	0.038	T	0.57952	-0.7722	10	0.33141	T	0.24	.	5.3646	0.16107	0.0:0.4307:0.1907:0.3786	.	202	Q9Y337	KLK5_HUMAN	E	202	ENSP00000337733:K202E;ENSP00000375685:K202E	ENSP00000337733:K202E	K	-	1	0	KLK5	56143830	0.000000	0.05858	0.009000	0.14445	0.004000	0.04260	-0.042000	0.12063	0.015000	0.14971	0.533000	0.62120	AAG		0.502	KLK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465057.1	NM_012427	
KIR3DL1	3811	broad.mit.edu	37	19	55331314	55331314	+	Missense_Mutation	SNP	G	G	A	rs200785070	byFrequency	TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr19:55331314G>A	ENST00000391728.4	+	4	535	c.502G>A	c.(502-504)Gtt>Att	p.V168I	KIR3DL1_ENST00000326542.7_Missense_Mutation_p.V168I|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.V168I|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.V168I|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.V73I|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.V168I	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	168	Ig-like C2-type 2.				immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CTCACGCCTCGTTGGACAGAT	0.502													g|||	2	0.000399361	0.0	0.0	5008	,	,		16455	0.002		0.0	False		,,,				2504	0.0					uc002qhk.3																			0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	5						c.(502-504)GTT>ATT		killer cell immunoglobulin-like receptor, three		G	ILE/VAL	2,4372		1,0,2186	177.0	164.0	169.0		502	-2.9	0.0	19		169	1,8383		0,1,4191	no	missense	KIR3DL1	NM_013289.2	29	1,1,6377	AA,AG,GG		0.0119,0.0457,0.0235		168/445	55331314	3,12755	2187	4192	6379	SO:0001583	missense	3811				immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity	g.chr19:55331314G>A	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.502G>A	19.37:g.55331314G>A	ENSP00000375608:p.Val168Ile					KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_Missense_Mutation_p.V110I|KIR3DL1_uc010esf.2_Missense_Mutation_p.V73I|KIR3DL1_uc010yfo.1_Missense_Mutation_p.V110I|KIR3DL1_uc002qhl.3_Missense_Mutation_p.V168I	p.V168I	NM_013289	NP_037421	P43629	KI3L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	4	565	+			168			Extracellular (Potential).|Ig-like C2-type 2.		O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000391728.4	37	c.502G>A	CCDS42621.1	.	.	.	.	.	.	.	.	.	.	-	0.041	-1.282695	0.01398	4.57E-4	1.19E-4	ENSG00000167633	ENST00000402254;ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542;ENST00000358178	T;T;T;T;T;T	0.03004	4.08;4.08;4.08;4.08;4.08;4.08	1.44	-2.88	0.05682	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.01421	0.0046	N	0.02665	-0.54	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.10450	0.001;0.005;0.004;0.001	T	0.44406	-0.9330	9	0.41790	T	0.15	.	2.9028	0.05711	0.5216:0.0:0.264:0.2143	.	168;73;168;168	Q15702;Q14946;F6QF33;P43629	.;.;.;KI3L1_HUMAN	I	168;168;168;146;168;168;73	ENSP00000384528:V168I;ENSP00000443350:V168I;ENSP00000442355:V168I;ENSP00000375608:V168I;ENSP00000326868:V168I;ENSP00000350901:V73I	ENSP00000326868:V168I	V	+	1	0	KIR3DL1	60023126	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.557000	0.05985	-1.463000	0.01904	-1.207000	0.01640	GTT		0.502	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289	
SYT5	6861	broad.mit.edu	37	19	55685985	55685985	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr19:55685985C>T	ENST00000354308.3	-	8	1229	c.860G>A	c.(859-861)gGc>gAc	p.G287D	SYT5_ENST00000537500.1_Missense_Mutation_p.G287D|SYT5_ENST00000590851.1_Missense_Mutation_p.G283D|CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000592935.1_5'Flank	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	287	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|dense core granule (GO:0031045)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.G287D(1)		kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CACCTTTTTGCCGCCCTGCAG	0.517																																						uc002qjm.1																			1	Substitution - Missense(1)		large_intestine(1)		0						c.(859-861)GGC>GAC		synaptotagmin V							158.0	145.0	149.0					19																	55685985		2203	4300	6503	SO:0001583	missense	6861				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:55685985C>T	X96783	CCDS12919.1, CCDS74455.1	19q13.42	2014-07-02			ENSG00000129990	ENSG00000129990		"""Synaptotagmins"""	11513	protein-coding gene	gene with protein product	"""synaptotagmin 5"""	600782				9177789	Standard	XM_006723338		Approved		uc002qjn.1	O00445	OTTHUMG00000180669	ENST00000354308.3:c.860G>A	19.37:g.55685985C>T	ENSP00000346265:p.Gly287Asp					SYT5_uc002qjp.2_Missense_Mutation_p.G283D|SYT5_uc002qjn.1_Missense_Mutation_p.G287D|SYT5_uc002qjo.1_Missense_Mutation_p.G286D	p.G287D	NM_003180	NP_003171	O00445	SYT5_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	7	1920	-			287			Cytoplasmic (Potential).|C2 2.		B3KWJ8|B7Z300|Q86X72	Missense_Mutation	SNP	ENST00000354308.3	37	c.860G>A	CCDS12919.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325151	0.81580	.	.	ENSG00000129990	ENST00000537500;ENST00000354308;ENST00000543844	T;T	0.72394	-0.65;-0.65	3.42	3.42	0.39159	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	0.77432	0.4129	L	0.48362	1.52	0.51233	D	0.999911	D;D;D	0.69078	0.997;0.995;0.995	D;D;D	0.70016	0.967;0.919;0.967	T	0.76127	-0.3073	10	0.34782	T	0.22	.	14.7937	0.69863	0.0:1.0:0.0:0.0	.	283;286;287	B7Z300;Q4FD32;O00445	.;.;SYT5_HUMAN	D	287;287;283	ENSP00000442896:G287D;ENSP00000346265:G287D	ENSP00000346265:G287D	G	-	2	0	SYT5	60377797	0.823000	0.29233	0.962000	0.40283	0.878000	0.50629	3.079000	0.50104	2.220000	0.72140	0.561000	0.74099	GGC		0.517	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452501.1	NM_003180	
ZSCAN1	284312	broad.mit.edu	37	19	58565136	58565136	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr19:58565136G>A	ENST00000282326.1	+	6	1191	c.944G>A	c.(943-945)cGc>cAc	p.R315H		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	315					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AAGACCCATCGCGAGGAAGGG	0.647																																						uc002qrc.1																			0				ovary(2)	2						c.(943-945)CGC>CAC		zinc finger and SCAN domain containing 1							70.0	63.0	65.0					19																	58565136		2203	4300	6503	SO:0001583	missense	284312				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58565136G>A	AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.944G>A	19.37:g.58565136G>A	ENSP00000282326:p.Arg315His						p.R315H	NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	6	1191	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	315					Q3B798|Q6WLH8|Q86WS8	Missense_Mutation	SNP	ENST00000282326.1	37	c.944G>A	CCDS12969.1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.328390	0.24080	.	.	ENSG00000152467	ENST00000282326	T	0.16073	2.37	1.22	-2.44	0.06502	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09423	0.0232	N	0.21324	0.655	0.09310	N	1	D	0.57257	0.979	B	0.43838	0.433	T	0.09975	-1.0650	9	0.72032	D	0.01	.	0.8802	0.01232	0.2068:0.3794:0.201:0.2127	.	315	Q8NBB4	ZSCA1_HUMAN	H	315	ENSP00000282326:R315H	ENSP00000282326:R315H	R	+	2	0	ZSCAN1	63256948	0.000000	0.05858	0.000000	0.03702	0.601000	0.36947	-2.672000	0.00843	-1.305000	0.02327	0.313000	0.20887	CGC		0.647	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572	
ADCY3	109	broad.mit.edu	37	2	25141642	25141642	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr2:25141642C>T	ENST00000260600.5	-	1	1066	c.215G>A	c.(214-216)aGg>aAg	p.R72K		NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	72					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GTGGCGCTGCCTTTTGAAGTA	0.597																																						uc002rfs.3																			0				breast(3)|ovary(1)	4						c.(214-216)AGG>AAG		adenylate cyclase 3							69.0	74.0	72.0					2																	25141642		2203	4300	6503	SO:0001583	missense	109				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25141642C>T	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.215G>A	2.37:g.25141642C>T	ENSP00000260600:p.Arg72Lys					ADCY3_uc010ykm.1_Missense_Mutation_p.R72K	p.R72K	NM_004036	NP_004027	O60266	ADCY3_HUMAN			1	414	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		72			Cytoplasmic (Potential).		B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	ENST00000260600.5	37	c.215G>A	CCDS1715.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.469595	0.84533	.	.	ENSG00000138031	ENST00000260600;ENST00000415879;ENST00000435135;ENST00000438445	T;T;T	0.80653	-1.4;-0.99;0.38	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.72244	0.3436	L	0.54323	1.7	0.80722	D	1	P;P	0.36412	0.552;0.552	B;B	0.27380	0.079;0.079	T	0.71344	-0.4621	10	0.10902	T	0.67	.	16.446	0.83932	0.0:1.0:0.0:0.0	.	72;72	B7ZLX9;O60266	.;ADCY3_HUMAN	K	72;47;72;72	ENSP00000260600:R72K;ENSP00000389799:R72K;ENSP00000406153:R72K	ENSP00000260600:R72K	R	-	2	0	ADCY3	24995146	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	7.380000	0.79704	2.211000	0.71520	0.563000	0.77884	AGG		0.597	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2		
UXS1	80146	broad.mit.edu	37	2	106710571	106710571	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr2:106710571G>A	ENST00000409501.3	-	15	1231	c.1174C>T	c.(1174-1176)Cgt>Tgt	p.R392C	UXS1_ENST00000540130.1_Missense_Mutation_p.R335C|UXS1_ENST00000283148.7_Missense_Mutation_p.R397C|UXS1_ENST00000409032.1_Missense_Mutation_p.R224C			Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	392					protein tetramerization (GO:0051262)|UDP-D-xylose biosynthetic process (GO:0033320)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|UDP-glucuronate decarboxylase activity (GO:0048040)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						AGTTCTTTACGGAAGTAGTGA	0.468																																						uc002tdm.2																			0				ovary(2)	2						c.(1174-1176)CGT>TGT		UDP-glucuronate decarboxylase 1							241.0	226.0	231.0					2																	106710571		1947	4140	6087	SO:0001583	missense	80146				cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity	g.chr2:106710571G>A	AK027244	CCDS46378.1, CCDS58720.1, CCDS58721.1	2q12.2	2012-02-22			ENSG00000115652	ENSG00000115652	4.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	17729	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 6E, member 12"""	609749				19027726	Standard	NM_001253875		Approved	FLJ23591, UGD, SDR6E1	uc002tdn.3	Q8NBZ7	OTTHUMG00000153150	ENST00000409501.3:c.1174C>T	2.37:g.106710571G>A	ENSP00000387019:p.Arg392Cys					UXS1_uc002tdk.2_Missense_Mutation_p.R190C|UXS1_uc002tdl.2_Missense_Mutation_p.R224C|UXS1_uc002tdn.2_Missense_Mutation_p.R397C|UXS1_uc002tdo.2_Missense_Mutation_p.R335C	p.R392C	NM_025076	NP_079352	Q8NBZ7	UXS1_HUMAN			15	1272	-			392			Lumenal (Potential).		Q8NBX3|Q9H5C2	Missense_Mutation	SNP	ENST00000409501.3	37	c.1174C>T	CCDS46378.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.701554	0.68501	.	.	ENSG00000115652	ENST00000283148;ENST00000540130;ENST00000409501;ENST00000409032	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	5.68	5.68	0.88126	.	0.047902	0.85682	D	0.000000	T	0.61739	0.2371	M	0.87827	2.91	0.80722	D	1	D;D;D	0.69078	0.997;0.995;0.995	P;B;P	0.48654	0.585;0.381;0.504	T	0.70753	-0.4786	10	0.87932	D	0	-4.895	14.5947	0.68397	0.0:0.0:0.854:0.146	.	397;392;397	Q8NBZ7-2;Q8NBZ7;A8K3Q3	.;UXS1_HUMAN;.	C	397;335;392;224	ENSP00000283148:R397C;ENSP00000438265:R335C;ENSP00000387019:R392C;ENSP00000387096:R224C	ENSP00000283148:R397C	R	-	1	0	UXS1	106077003	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	5.563000	0.67352	2.670000	0.90874	0.563000	0.77884	CGT		0.468	UXS1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329778.1	NM_025076.3	
TUBA3D	113457	broad.mit.edu	37	2	132238151	132238151	+	Silent	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr2:132238151C>T	ENST00000321253.6	+	4	992	c.885C>T	c.(883-885)tgC>tgT	p.C295C		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	295					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		CCAATGCCTGCTTCGAGCCAG	0.597																																					Ovarian(137;2059 2432 35543 39401)	uc002tsu.3																			0					0						c.(883-885)TGC>TGT		tubulin, alpha 3d							93.0	127.0	115.0					2																	132238151		2202	4300	6502	SO:0001819	synonymous_variant	113457				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:132238151C>T	K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"""Tubulins"""	24071	protein-coding gene	gene with protein product	"""alpha-tubulin isotype H2-alpha"""					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.885C>T	2.37:g.132238151C>T							p.C295C	NM_080386	NP_525125	Q13748	TBA3C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	4	992	+			295					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	ENST00000321253.6	37	c.885C>T	CCDS33290.1																																																																																				0.597	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331800.2	NM_080386	
HOXD9	3235	broad.mit.edu	37	2	176988850	176988850	+	Missense_Mutation	SNP	C	C	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr2:176988850C>A	ENST00000249499.6	+	2	1415	c.1006C>A	c.(1006-1008)Cgt>Agt	p.R336S	HOXD-AS2_ENST00000440016.2_RNA	NM_014213.3	NP_055028.3	P28356	HXD9_HUMAN	homeobox D9	336					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal system morphogenesis (GO:0048704)|hindlimb morphogenesis (GO:0035137)|mammary gland development (GO:0030879)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GTTTCAGAACCGTAGGATGAA	0.532																																					GBM(47;924 952 7959 9248 12176)	uc010zex.1																			0					0						c.(1006-1008)CGT>AGT		homeobox D9							70.0	83.0	79.0					2																	176988850		2203	4300	6503	SO:0001583	missense	3235					nucleus	sequence-specific DNA binding	g.chr2:176988850C>A		CCDS2267.2	2q31.1	2011-06-20	2005-12-22		ENSG00000128709	ENSG00000128709		"""Homeoboxes / ANTP class : HOXL subclass"""	5140	protein-coding gene	gene with protein product		142982	"""homeo box D9"""	HOX4C, HOX4		1973146, 1358459	Standard	NM_014213		Approved		uc010zex.2	P28356	OTTHUMG00000132516	ENST00000249499.6:c.1006C>A	2.37:g.176988850C>A	ENSP00000249499:p.Arg336Ser						p.R336S	NM_014213	NP_055028	P28356	HXD9_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)	2	1090	+			336			Homeobox.		Q86ST1	Missense_Mutation	SNP	ENST00000249499.6	37	c.1006C>A	CCDS2267.2	.	.	.	.	.	.	.	.	.	.	C	17.94	3.511374	0.64522	.	.	ENSG00000128709	ENST00000249499	D	0.97710	-4.5	5.7	5.7	0.88788	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.64402	D	0.000002	D	0.99217	0.9728	H	0.98487	4.245	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.98786	1.0734	10	0.87932	D	0	.	12.232	0.54492	0.2647:0.7353:0.0:0.0	.	336	P28356	HXD9_HUMAN	S	336	ENSP00000249499:R336S	ENSP00000249499:R336S	R	+	1	0	HOXD9	176697096	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.674000	0.46867	2.694000	0.91930	0.650000	0.86243	CGT		0.532	HOXD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255698.4		
AOX1	316	broad.mit.edu	37	2	201478599	201478599	+	Silent	SNP	G	G	A	rs200716526		TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr2:201478599G>A	ENST00000374700.2	+	15	1762	c.1521G>A	c.(1519-1521)gcG>gcA	p.A507A	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	507					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)	p.A507A(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TGGGCTCGGCGCCAGGTGGGA	0.468																																						uc002uvx.2																			1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	ovary(4)|pancreas(1)|skin(1)	6						c.(1519-1521)GCG>GCA		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	G		0,4406		0,0,2203	95.0	92.0	93.0		1521	-7.1	0.6	2		93	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	AOX1	NM_001159.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		507/1339	201478599	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201478599G>A	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.1521G>A	2.37:g.201478599G>A						AOX1_uc010zhf.1_Silent_p.A63A|AOX1_uc010fsu.2_5'UTR	p.A507A	NM_001159	NP_001150	Q06278	ADO_HUMAN			15	1622	+			507					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Silent	SNP	ENST00000374700.2	37	c.1521G>A	CCDS33360.1																																																																																				0.468	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159	
EMILIN3	90187	broad.mit.edu	37	20	39990117	39990119	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr20:39990117_39990119delCCT	ENST00000332312.3	-	4	2282_2284	c.2090_2092delAGG	c.(2089-2094)gagggt>ggt	p.E697del		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	697						cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)				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)				CTGCACGCACCCTCCACTTGTGC	0.665																																						uc002xjy.1																			0				ovary(1)	1						c.(2089-2094)GAGGGT>GGT		elastin microfibril interfacer 3																																				SO:0001651	inframe_deletion	90187					proteinaceous extracellular matrix		g.chr20:39990117_39990119delCCT	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.2090_2092delAGG	20.37:g.39990117_39990119delCCT	ENSP00000332806:p.Glu697del						p.E697del	NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN			4	2314_2316	-		Myeloproliferative disorder(115;0.00425)	697					Q495S5|Q495S6|Q495S7|Q76KT4	In_Frame_Del	DEL	ENST00000332312.3	37	c.2090_2092delAGG	CCDS13316.1																																																																																				0.665	EMILIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106876.2	XM_029741	
ERG	2078	broad.mit.edu	37	21	39795376	39795376	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr21:39795376G>A	ENST00000417133.2	-	5	550	c.365C>T	c.(364-366)cCc>cTc	p.P122L	ERG_ENST00000398919.2_Missense_Mutation_p.P122L|ERG_ENST00000398910.1_Missense_Mutation_p.P122L|ERG_ENST00000398907.1_Missense_Mutation_p.P115L|ERG_ENST00000288319.7_Missense_Mutation_p.P115L|ERG_ENST00000398905.1_Missense_Mutation_p.P115L|ERG_ENST00000398897.1_Missense_Mutation_p.P23L|ERG_ENST00000429727.2_Missense_Mutation_p.P115L|ERG_ENST00000453032.2_Missense_Mutation_p.P23L|ERG_ENST00000442448.1_Missense_Mutation_p.P122L|ERG_ENST00000398911.1_Missense_Mutation_p.P122L	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	Q12809	KCNH2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	140	PAC. {ECO:0000255|PROSITE- ProRule:PRU00141}.				cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)			Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	CATGTTTGGGGGTGGCATGTG	0.592			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""																																Esophageal Squamous(130;336 1700 3010 3083 40589)	uc010gnw.2				Dom	yes		21	21q22.3	2078		v-ets erythroblastosis virus E26 oncogene like (avian)			"""M, E, L"""				TMPRSS2/ERG(2499)|FUS/ERG(163)|EWSR1/ERG(162)	0				prostate(2499)|bone(167)|haematopoietic_and_lymphoid_tissue(153)|soft_tissue(5)|lung(2)|skin(1)|ovary(1)	2828						c.(364-366)CCC>CTC		ets-related isoform 4							249.0	158.0	189.0					21																	39795376		2203	4300	6503	SO:0001583	missense	2078				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:39795376G>A		CCDS13657.1, CCDS13658.1, CCDS46648.1, CCDS46649.1, CCDS58789.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157554	ENSG00000157554			3446	protein-coding gene	gene with protein product	"""v-ets avian erythroblastosis virus E26 oncogene related"", ""transcriptional regulator ERG (transforming protein ERG)"", ""v-ets erythroblastosis virus E26 oncogene like"", ""TMPRSS2-ERG prostate cancer specific"""	165080	"""v-ets avian erythroblastosis virus E26 oncogene related"""			3274086	Standard	NM_001136154		Approved	erg-3, p55	uc002yxa.3	P11308	OTTHUMG00000090767	ENST00000417133.2:c.365C>T	21.37:g.39795376G>A	ENSP00000414150:p.Pro122Leu					ERG_uc002yxa.2_Missense_Mutation_p.P115L|ERG_uc011aek.1_Missense_Mutation_p.P23L|ERG_uc010gnv.2_Missense_Mutation_p.P23L|ERG_uc010gnx.2_Missense_Mutation_p.P122L|ERG_uc011ael.1_Missense_Mutation_p.P122L|ERG_uc002yxb.2_Missense_Mutation_p.P122L|ERG_uc011aem.1_Missense_Mutation_p.P115L|ERG_uc002yxc.3_Missense_Mutation_p.P122L	p.P122L	NM_001136155	NP_001129627	P11308	ERG_HUMAN			5	660	-		Prostate(19;3.6e-06)	122			PNT.		A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000417133.2	37	c.365C>T	CCDS46648.1	.	.	.	.	.	.	.	.	.	.	G	32	5.148603	0.94603	.	.	ENSG00000157554	ENST00000398905;ENST00000398907;ENST00000288319;ENST00000398897;ENST00000398911;ENST00000417133;ENST00000398910;ENST00000442448;ENST00000453032;ENST00000398919;ENST00000429727	T;T;T;T;T;T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62	5.05	5.05	0.67936	Sterile alpha motif/pointed domain (2);Pointed domain (3);	0.165045	0.53938	D	0.000049	T	0.60830	0.2299	M	0.83118	2.625	0.80722	D	1	D;P;P;D;D;P	0.63046	0.992;0.94;0.94;0.983;0.984;0.956	P;D;D;D;D;P	0.72982	0.866;0.944;0.91;0.979;0.944;0.815	T	0.67166	-0.5739	10	0.87932	D	0	.	18.7902	0.91971	0.0:0.0:1.0:0.0	.	115;122;115;122;122;115	B4E3C5;P11308;B5MDW0;P11308-6;P11308-1;P11308-4	.;ERG_HUMAN;.;.;.;.	L	115;115;115;23;122;122;122;122;23;122;115	ENSP00000381877:P115L;ENSP00000381879:P115L;ENSP00000288319:P115L;ENSP00000381871:P23L;ENSP00000381882:P122L;ENSP00000414150:P122L;ENSP00000381881:P122L;ENSP00000394694:P122L;ENSP00000396268:P23L;ENSP00000381891:P122L	ENSP00000288319:P115L	P	-	2	0	ERG	38717246	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.420000	0.97426	2.503000	0.84419	0.561000	0.74099	CCC		0.592	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207532.2	NM_182918	
POFUT2	23275	broad.mit.edu	37	21	46689872	46689872	+	Silent	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr21:46689872G>A	ENST00000349485.5	-	7	920	c.894C>T	c.(892-894)ttC>ttT	p.F298F	POFUT2_ENST00000331343.7_Silent_p.F298F|POFUT2_ENST00000471540.1_5'UTR	NM_133635.4	NP_598368.2	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	298					fucose metabolic process (GO:0006004)|mesoderm formation (GO:0001707)|protein O-linked fucosylation (GO:0036066)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of gene expression (GO:0010468)|regulation of secretion (GO:0051046)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	peptide-O-fucosyltransferase activity (GO:0046922)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		GACCCCAGATGAAATCTTTTC	0.572																																						uc002zhc.2																			0					0						c.(892-894)TTC>TTT		protein O-fucosyltransferase 2 isoform C							68.0	70.0	69.0					21																	46689872		2203	4300	6503	SO:0001819	synonymous_variant	23275				fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity	g.chr21:46689872G>A	AJ203079	CCDS13719.1, CCDS13721.1	21q22.3	2013-03-06	2004-06-07	2004-06-09	ENSG00000186866	ENSG00000186866	2.4.1.221	"""Fucosyltransferases"""	14683	protein-coding gene	gene with protein product	"""peptide-O-fucosyltransferase"", ""GDP-fucose protein O-fucosyltransferase 2"""	610249	"""chromosome 21 open reading frame 80"""	C21orf80			Standard	NM_133635		Approved	KIAA0958, FUT13	uc002zhc.3	Q9Y2G5	OTTHUMG00000084874	ENST00000349485.5:c.894C>T	21.37:g.46689872G>A						POFUT2_uc002zha.2_RNA|POFUT2_uc002zhb.2_RNA|POFUT2_uc002zhd.2_Silent_p.F298F	p.F298F	NM_133635	NP_598368	Q9Y2G5	OFUT2_HUMAN		Colorectal(79;0.243)	7	919	-			298					Q6PJV1|Q7Z4N0|Q8WWU6|Q9BQS4|Q9BQS5|Q9UFY3	Silent	SNP	ENST00000349485.5	37	c.894C>T	CCDS13719.1	.	.	.	.	.	.	.	.	.	.	g	0.647	-0.811186	0.02798	.	.	ENSG00000186866	ENST00000451615	.	.	.	4.67	-2.52	0.06346	.	.	.	.	.	T	0.55641	0.1933	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53753	-0.8394	4	.	.	.	-15.9561	10.9992	0.47596	0.4531:0.0:0.5469:0.0	.	.	.	.	Y	221	.	.	H	-	1	0	POFUT2	45514300	1.000000	0.71417	0.985000	0.45067	0.006000	0.05464	1.157000	0.31724	-0.349000	0.08274	-1.892000	0.00534	CAT		0.572	POFUT2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192573.2	NM_015227	
GRIP2	80852	broad.mit.edu	37	3	14552933	14552933	+	RNA	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr3:14552933C>T	ENST00000273083.3	-	0	1839							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GTGTGCCACGCTGCCTTTCTT	0.597																																						uc011avi.1																			0				pancreas(1)	1						c.(2068-2070)AGC>AAC		glutamate receptor interacting protein 2							112.0	113.0	113.0					3																	14552933		2166	4268	6434			80852				synaptic transmission	cytosol|plasma membrane	protein binding	g.chr3:14552933C>T	AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14552933C>T						GRIP2_uc010heh.2_RNA|GRIP2_uc011avh.1_Missense_Mutation_p.S221N	p.S690N	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN			16	2069	-			592			PDZ 5.		Q8TEH9|Q9H7H3	Missense_Mutation	SNP	ENST00000273083.3	37	c.2069G>A																																																																																					0.597	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	NM_001080423	
TRIM71	131405	broad.mit.edu	37	3	32915463	32915463	+	Nonsense_Mutation	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr3:32915463C>T	ENST00000383763.5	+	2	1069	c.1006C>T	c.(1006-1008)Cga>Tga	p.R336*		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	336					fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCAGCAGGGACGACAGGCAAT	0.612																																						uc003cff.2																			0		p.R336fs*6(1)		ovary(2)|large_intestine(1)	3						c.(1006-1008)CGA>TGA		tripartite motif-containing 71							82.0	88.0	86.0					3																	32915463		2115	4231	6346	SO:0001587	stop_gained	131405				multicellular organismal development	cytoplasm	zinc ion binding	g.chr3:32915463C>T		CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	32669	protein-coding gene	gene with protein product			"""tripartite motif-containing 71"", ""tripartite motif containing 71"""				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.1006C>T	3.37:g.32915463C>T	ENSP00000373272:p.Arg336*						p.R336*	NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN			2	1069	+			336						Nonsense_Mutation	SNP	ENST00000383763.5	37	c.1006C>T	CCDS43060.1	.	.	.	.	.	.	.	.	.	.	C	37	6.078839	0.97262	.	.	ENSG00000206557	ENST00000383763	.	.	.	5.83	4.95	0.65309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-38.6517	15.1708	0.72872	0.1421:0.8579:0.0:0.0	.	.	.	.	X	336	.	ENSP00000373272:R336X	R	+	1	2	TRIM71	32890467	0.998000	0.40836	1.000000	0.80357	0.656000	0.38851	3.818000	0.55678	1.476000	0.48215	-0.152000	0.13540	CGA		0.612	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341565.3	NM_001039111	
MINA	84864	broad.mit.edu	37	3	97686291	97686291	+	Silent	SNP	G	G	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr3:97686291G>T	ENST00000333396.7	-	2	729	c.147C>A	c.(145-147)atC>atA	p.I49I	MINA_ENST00000360258.4_Silent_p.I49I|MINA_ENST00000330299.2_Silent_p.I49I|MINA_ENST00000394198.2_Silent_p.I49I	NM_001042533.2|NM_032778.5	NP_001035998.1|NP_116167.3			MYC induced nuclear antigen											breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						TCTCTGTCTTGATGGGCGAGA	0.488																																						uc003drz.1																			0				ovary(1)	1						c.(145-147)ATC>ATA		MYC induced nuclear antigen isoform a							87.0	93.0	91.0					3																	97686291		2203	4300	6503	SO:0001819	synonymous_variant	84864				ribosome biogenesis	cytoplasm|nucleolus		g.chr3:97686291G>T	AB083189	CCDS2929.1, CCDS43114.1	3q22.1	2005-07-22			ENSG00000170854	ENSG00000170854			19441	protein-coding gene	gene with protein product		612049				12091391	Standard	NM_001042533		Approved	MINA53, FLJ14393, mdig	uc003dsb.1	Q8IUF8	OTTHUMG00000160107	ENST00000333396.7:c.147C>A	3.37:g.97686291G>T						MINA_uc003dsa.1_Silent_p.I49I|MINA_uc003dsb.1_Silent_p.I49I|MINA_uc003dsc.1_Silent_p.I49I|MINA_uc010hpa.1_RNA|MINA_uc010hpb.1_Intron	p.I49I	NM_001042533	NP_001035998	Q8IUF8	MINA_HUMAN			2	653	-			49						Silent	SNP	ENST00000333396.7	37	c.147C>A	CCDS43114.1																																																																																				0.488	MINA-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359244.3	NM_032778	
ALCAM	214	broad.mit.edu	37	3	105238918	105238918	+	Silent	SNP	A	A	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr3:105238918A>T	ENST00000306107.5	+	2	581	c.81A>T	c.(79-81)ggA>ggT	p.G27G	ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000472644.2_Silent_p.G27G|ALCAM_ENST00000486979.2_De_novo_Start_OutOfFrame	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	27					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						AAGGCCTTGGATGGTATACTG	0.358																																						uc003dvx.2																			0				ovary(2)|breast(1)	3						c.(79-81)GGA>GGT		activated leukocyte cell adhesion molecule							107.0	100.0	102.0					3																	105238918		2203	4300	6503	SO:0001819	synonymous_variant	214				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr3:105238918A>T	AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	400	protein-coding gene	gene with protein product		601662	"""activated leucocyte cell adhesion molecule"""			7760007	Standard	NM_001627		Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.81A>T	3.37:g.105238918A>T						ALCAM_uc003dvv.2_Silent_p.G27G|ALCAM_uc003dvw.1_Silent_p.G27G|ALCAM_uc003dvy.2_Silent_p.G27G|ALCAM_uc011bhh.1_5'UTR	p.G27G	NM_001627	NP_001618	Q13740	CD166_HUMAN			2	621	+			27					B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Silent	SNP	ENST00000306107.5	37	c.81A>T	CCDS33810.1																																																																																				0.358	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353764.1	NM_001627	
BCHE	590	broad.mit.edu	37	3	165503999	165503999	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr3:165503999T>C	ENST00000264381.3	-	3	1784	c.1618A>G	c.(1618-1620)Acg>Gcg	p.T540A	BCHE_ENST00000540653.1_Missense_Mutation_p.T2A	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	540					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	CGTAGTTTCGTCATTATTCTT	0.363																																						uc003fem.3																			0				ovary(3)|pancreas(1)	4						c.(1618-1620)ACG>GCG		butyrylcholinesterase precursor	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)						158.0	143.0	148.0					3																	165503999		2203	4299	6502	SO:0001583	missense	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165503999T>C	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.1618A>G	3.37:g.165503999T>C	ENSP00000264381:p.Thr540Ala					BCHE_uc003fen.3_RNA	p.T540A	NM_000055	NP_000046	P06276	CHLE_HUMAN			3	1778	-			540					A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	37	c.1618A>G	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	T	5.617	0.298597	0.10622	.	.	ENSG00000114200	ENST00000264381;ENST00000479451;ENST00000540653;ENST00000488954	D;D;T;D	0.95307	-3.67;-3.67;-1.14;-3.67	5.48	-0.221	0.13126	Acetylcholinesterase, tetramerisation (1);Carboxylesterase, type B (1);	0.494884	0.21019	N	0.081543	D	0.85813	0.5784	L	0.28054	0.825	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.73538	-0.3951	10	0.40728	T	0.16	.	1.9942	0.03453	0.1256:0.2359:0.1221:0.5164	.	540	P06276	CHLE_HUMAN	A	540;70;2;70	ENSP00000264381:T540A;ENSP00000418325:T70A;ENSP00000443583:T2A;ENSP00000418504:T70A	ENSP00000264381:T540A	T	-	1	0	BCHE	166986693	0.028000	0.19301	0.007000	0.13788	0.023000	0.10783	0.082000	0.14847	0.050000	0.15949	0.533000	0.62120	ACG		0.363	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1		
PIK3CA	5290	broad.mit.edu	37	3	178916623	178916623	+	Nonsense_Mutation	SNP	C	C	T	rs1051397		TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr3:178916623C>T	ENST00000263967.3	+	2	167	c.10C>T	c.(10-12)Cga>Tga	p.R4*		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	4					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGCCTCCACGACCATCATC	0.393		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		0				breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(10-12)CGA>TGA		phosphoinositide-3-kinase, catalytic, alpha							49.0	49.0	49.0					3																	178916623		1869	4094	5963	SO:0001587	stop_gained	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916623C>T		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.10C>T	3.37:g.178916623C>T	ENSP00000263967:p.Arg4*	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.R4*	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		2	167	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		4					Q14CW1|Q99762	Nonsense_Mutation	SNP	ENST00000263967.3	37	c.10C>T	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.673277	0.88445	.	.	ENSG00000121879	ENST00000477735;ENST00000263967;ENST00000468036	.	.	.	5.37	4.35	0.52113	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-9.5854	12.1587	0.54091	0.5222:0.4778:0.0:0.0	.	.	.	.	X	4	.	ENSP00000263967:R4X	R	+	1	2	PIK3CA	180399317	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.602000	0.61098	1.079000	0.41038	0.650000	0.86243	CGA		0.393	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
PIK3CA	5290	broad.mit.edu	37	3	178916945	178916945	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr3:178916945A>G	ENST00000263967.3	+	2	489	c.332A>G	c.(331-333)aAg>aGg	p.K111R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	111					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.K111_L113delKIL(2)|p.K111R(1)|p.K111del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CGTGAAGAAAAGATCCTCAAT	0.333		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		4	Deletion - In frame(3)|Substitution - Missense(1)	p.K111N(10)|p.K111E(7)|p.K111R(1)|p.K111del(1)|p.K111_I112>N(1)	breast(2)|large_intestine(1)|lung(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(331-333)AAG>AGG		phosphoinositide-3-kinase, catalytic, alpha							82.0	78.0	80.0					3																	178916945		1821	4069	5890	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916945A>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.332A>G	3.37:g.178916945A>G	ENSP00000263967:p.Lys111Arg	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.K111R	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		2	489	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		111					Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.332A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.944242	0.73672	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.74737	0.87;-0.87	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.85639	0.5743	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	D	0.86497	0.1801	9	.	.	.	-23.7658	15.6301	0.76899	1.0:0.0:0.0:0.0	.	111	P42336	PK3CA_HUMAN	R	111	ENSP00000263967:K111R;ENSP00000417479:K111R	.	K	+	2	0	PIK3CA	180399639	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.058000	0.76676	2.089000	0.63090	0.454000	0.30748	AAG		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
WDR1	9948	broad.mit.edu	37	4	10099515	10099515	+	Splice_Site	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr4:10099515C>T	ENST00000499869.2	-	5	571	c.378G>A	c.(376-378)aaG>aaA	p.K126K	WDR1_ENST00000382451.2_Intron|WDR1_ENST00000502702.1_Intron|WDR1_ENST00000382452.2_Splice_Site_p.K126K			O75083	WDR1_HUMAN	WD repeat domain 1	126					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|sensory perception of sound (GO:0007605)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CTGCTCCAAACCTTGACCCAA	0.478																																						uc003gmf.2																			0				ovary(2)|pancreas(1)	3						c.(376-378)AAG>AAA		WD repeat-containing protein 1 isoform 1							46.0	43.0	44.0					4																	10099515		1960	4148	6108	SO:0001630	splice_region_variant	9948				platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding	g.chr4:10099515C>T	AF020260	CCDS54739.1, CCDS54740.1	4p16.1	2013-01-09			ENSG00000071127	ENSG00000071127		"""WD repeat domain containing"""	12754	protein-coding gene	gene with protein product		604734				10036186	Standard	NM_017491		Approved		uc021xlv.1	O75083	OTTHUMG00000160253	ENST00000499869.2:c.378-1G>A	4.37:g.10099515C>T						WDR1_uc003gmg.2_Intron	p.K126K	NM_017491	NP_059830	O75083	WDR1_HUMAN		STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)	5	661	-			126			WD 2.		A8K6E9|A8MPU4|O75313|Q8N6E5|Q9UG05|Q9UG78|Q9UQE0	Silent	SNP	ENST00000499869.2	37	c.378G>A	CCDS54740.1																																																																																				0.478	WDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359877.1		Silent
CDKL2	8999	broad.mit.edu	37	4	76539498	76539498	+	Missense_Mutation	SNP	C	C	G			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr4:76539498C>G	ENST00000429927.2	-	3	1007	c.304G>C	c.(304-306)Gta>Cta	p.V102L	CDKL2_ENST00000307465.4_Missense_Mutation_p.V102L	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	102	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				sex differentiation (GO:0007548)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TTTTGAACTACTTGGTAGTCT	0.313																																						uc003hiq.2																			0				ovary(2)|stomach(2)|breast(2)|skin(1)	7						c.(304-306)GTA>CTA		cyclin-dependent kinase-like 2							82.0	86.0	85.0					4																	76539498		2203	4300	6503	SO:0001583	missense	8999				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr4:76539498C>G	U35146	CCDS3570.1	4q21.21	2011-11-04			ENSG00000138769	ENSG00000138769		"""Cyclin-dependent kinases"""	1782	protein-coding gene	gene with protein product		603442				9000130	Standard	NM_003948		Approved	P56, KKIAMRE	uc003hiq.3	Q92772	OTTHUMG00000130103	ENST00000429927.2:c.304G>C	4.37:g.76539498C>G	ENSP00000412365:p.Val102Leu					CDKL2_uc011cbp.1_Missense_Mutation_p.V102L|CDKL2_uc010iix.1_Intron	p.V102L	NM_003948	NP_003939	Q92772	CDKL2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		3	829	-			102			Protein kinase.		B2R695	Missense_Mutation	SNP	ENST00000429927.2	37	c.304G>C	CCDS3570.1	.	.	.	.	.	.	.	.	.	.	C	6.884	0.532540	0.13127	.	.	ENSG00000138769	ENST00000429927;ENST00000307465	T;T	0.64260	-0.09;-0.09	5.16	3.26	0.37387	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.36496	0.0969	N	0.10874	0.06	0.30449	N	0.775458	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.25847	-1.0120	9	0.23891	T	0.37	-0.2573	3.9508	0.09368	0.0:0.2065:0.3919:0.4015	.	102;102	B4DH08;Q92772	.;CDKL2_HUMAN	L	102	ENSP00000412365:V102L;ENSP00000306340:V102L	ENSP00000306340:V102L	V	-	1	0	CDKL2	76758522	0.997000	0.39634	0.997000	0.53966	0.969000	0.65631	1.440000	0.35024	0.702000	0.31825	0.313000	0.20887	GTA		0.313	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252409.2	NM_003948	
OTUD4	54726	broad.mit.edu	37	4	146059006	146059006	+	Missense_Mutation	SNP	G	G	A	rs558808115		TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr4:146059006G>A	ENST00000447906.2	-	21	3108	c.2921C>T	c.(2920-2922)aCt>aTt	p.T974I	OTUD4_ENST00000454497.2_Missense_Mutation_p.T909I|OTUD4_ENST00000455611.2_Intron			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	974					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					AACAGGCACAGTTTCTCTCTC	0.463																																						uc003ika.3																			0				ovary(2)|breast(1)	3						c.(2725-2727)ACT>ATT		OTU domain containing 4 protein isoform 3							128.0	133.0	131.0					4																	146059006		2203	4300	6503	SO:0001583	missense	54726						protein binding	g.chr4:146059006G>A		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.2921C>T	4.37:g.146059006G>A	ENSP00000395487:p.Thr974Ile					OTUD4_uc003ijz.3_Missense_Mutation_p.T908I	p.T909I	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN			21	2864	-	all_hematologic(180;0.151)		973					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	37	c.2726C>T		.	.	.	.	.	.	.	.	.	.	G	13.28	2.191504	0.38707	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.34275	1.37;1.37	6.17	5.33	0.75918	.	1.059000	0.07258	N	0.867023	T	0.32793	0.0841	N	0.24115	0.695	0.80722	D	1	B;B	0.13145	0.007;0.004	B;B	0.14023	0.01;0.004	T	0.02275	-1.1184	10	0.59425	D	0.04	-0.3286	15.5098	0.75772	0.0658:0.0:0.9342:0.0	.	974;973	G3V0I6;Q01804	.;OTUD4_HUMAN	I	909;974	ENSP00000409279:T909I;ENSP00000395487:T974I	ENSP00000395487:T974I	T	-	2	0	OTUD4	146278456	0.027000	0.19231	0.108000	0.21378	0.880000	0.50808	2.210000	0.42816	1.621000	0.50320	0.655000	0.94253	ACT		0.463	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493	
HTR1A	3350	broad.mit.edu	37	5	63256355	63256355	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr5:63256355C>T	ENST00000323865.3	-	1	1425	c.1192G>A	c.(1192-1194)Gtc>Atc	p.V398I	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	398					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GCGTAAATGACGGGGTTAAGC	0.517																																						uc011cqt.1																			0				ovary(2)|pancreas(2)	4						c.(1192-1194)GTC>ATC		5-hydroxytryptamine (serotonin) receptor 1A	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						199.0	207.0	204.0					5																	63256355		2203	4300	6503	SO:0001583	missense	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63256355C>T	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.1192G>A	5.37:g.63256355C>T	ENSP00000316244:p.Val398Ile						p.V398I	NM_000524	NP_000515	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	1192	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	398			Helical; Name=7; (By similarity).		Q6LAE7	Missense_Mutation	SNP	ENST00000323865.3	37	c.1192G>A	CCDS34168.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.924839	0.00493	.	.	ENSG00000178394	ENST00000323865	T	0.32753	1.44	5.82	3.1	0.35709	GPCR, rhodopsin-like superfamily (1);	0.112998	0.64402	D	0.000018	T	0.06872	0.0175	N	0.00690	-1.25	0.38579	D	0.950133	B	0.17268	0.021	B	0.12156	0.007	T	0.28808	-1.0032	10	0.02654	T	1	.	6.3635	0.21441	0.0:0.5919:0.0:0.4081	.	398	P08908	5HT1A_HUMAN	I	398	ENSP00000316244:V398I	ENSP00000316244:V398I	V	-	1	0	HTR1A	63292111	0.975000	0.34042	0.683000	0.30040	0.099000	0.18886	2.044000	0.41241	0.814000	0.34374	0.655000	0.94253	GTC		0.517	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524	
GPR98	84059	broad.mit.edu	37	5	90049615	90049615	+	Silent	SNP	G	G	A	rs375790811		TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr5:90049615G>A	ENST00000405460.2	+	54	11442	c.11346G>A	c.(11344-11346)gcG>gcA	p.A3782A		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3782	Calx-beta 25. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGCGTGCTGCGTCTGTCTTCA	0.368																																						uc003kju.2																			0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(11344-11346)GCG>GCA		G protein-coupled receptor 98 precursor							47.0	44.0	45.0					5																	90049615		1915	4142	6057	SO:0001819	synonymous_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90049615G>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.11346G>A	5.37:g.90049615G>A						GPR98_uc003kjt.2_Silent_p.A1488A|GPR98_uc003kjv.2_Silent_p.A1382A	p.A3782A	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	54	11442	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	3782			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.11346G>A	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	0.258	-1.001397	0.02128	.	.	ENSG00000164199	ENST00000509621	.	.	.	5.67	1.05	0.20165	.	.	.	.	.	T	0.42539	0.1207	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30794	-0.9966	4	.	.	.	.	1.628	0.02727	0.1939:0.1289:0.4199:0.2573	.	.	.	.	H	1348	.	.	R	+	2	0	GPR98	90085371	0.030000	0.19436	0.654000	0.29608	0.015000	0.08874	-0.817000	0.04472	0.723000	0.32274	0.655000	0.94253	CGT		0.368	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
PCDHA8	56140	broad.mit.edu	37	5	140222810	140222810	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr5:140222810G>A	ENST00000531613.1	+	1	1904	c.1904G>A	c.(1903-1905)cGt>cAt	p.R635H	PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.R635H|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	635	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCACCACTCGTGTCCTGGAC	0.647																																						uc003lhs.2																			0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1903-1905)CGT>CAT		protocadherin alpha 8 isoform 1 precursor							112.0	110.0	111.0					5																	140222810		2198	4268	6466	SO:0001583	missense	56140				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140222810G>A	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1904G>A	5.37:g.140222810G>A	ENSP00000434655:p.Arg635His					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.R635H	p.R635H	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1904	+			635			Cadherin 6.|Extracellular (Potential).		B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.1904G>A	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.467287	0.43839	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.53857	0.6;0.6	2.93	2.93	0.34026	Cadherin (4);Cadherin-like (1);	0.000000	0.35903	U	0.002912	T	0.70745	0.3259	M	0.83483	2.645	0.09310	N	1	D;D	0.89917	1.0;0.999	D;P	0.63283	0.913;0.84	T	0.65578	-0.6134	10	0.87932	D	0	.	14.3079	0.66395	0.0:0.0:1.0:0.0	.	635;635	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	H	635	ENSP00000434655:R635H;ENSP00000367363:R635H	ENSP00000367363:R635H	R	+	2	0	PCDHA8	140202994	0.611000	0.26992	0.405000	0.26409	0.126000	0.20510	3.932000	0.56537	1.624000	0.50355	0.313000	0.20887	CGT		0.647	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911	
KIF4B	285643	broad.mit.edu	37	5	154395782	154395782	+	Missense_Mutation	SNP	G	G	A	rs370994878		TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr5:154395782G>A	ENST00000435029.4	+	1	2523	c.2363G>A	c.(2362-2364)cGg>cAg	p.R788Q		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	788	Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAGGAATCTCGGGAGAATCCA	0.438																																						uc010jih.1																			0				ovary(1)	1						c.(2362-2364)CGG>CAG		kinesin family member 4B		G	GLN/ARG	1,4401	2.1+/-5.4	0,1,2200	47.0	50.0	49.0		2363	0.5	0.9	5		49	0,8600		0,0,4300	no	missense	KIF4B	NM_001099293.1	43	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	benign	788/1235	154395782	1,13001	2201	4300	6501	SO:0001583	missense	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154395782G>A	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.2363G>A	5.37:g.154395782G>A	ENSP00000387875:p.Arg788Gln						p.R788Q	NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	2523	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	788			Interaction with PRC1 (By similarity).|Potential.			Missense_Mutation	SNP	ENST00000435029.4	37	c.2363G>A	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	g	4.483	0.089628	0.08632	2.27E-4	0.0	ENSG00000226650	ENST00000435029	T	0.66995	-0.24	1.48	0.541	0.17168	.	.	.	.	.	T	0.44095	0.1277	N	0.14661	0.345	0.09310	N	0.999998	B	0.15719	0.014	B	0.17433	0.018	T	0.24548	-1.0157	9	0.13470	T	0.59	.	8.7561	0.34645	0.1597:0.0:0.8403:0.0	.	788	Q2VIQ3	KIF4B_HUMAN	Q	788	ENSP00000387875:R788Q	ENSP00000387875:R788Q	R	+	2	0	KIF4B	154375975	1.000000	0.71417	0.947000	0.38551	0.482000	0.33219	3.284000	0.51708	-0.171000	0.10797	-1.119000	0.02030	CGG		0.438	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1		
ME1	4199	broad.mit.edu	37	6	84056027	84056027	+	Silent	SNP	A	A	G			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr6:84056027A>G	ENST00000369705.3	-	5	581	c.465T>C	c.(463-465)cgT>cgC	p.R155R	ME1_ENST00000543031.1_Silent_p.R80R|ME1_ENST00000541327.1_5'UTR	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	155					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|malate metabolic process (GO:0006108)|NADP biosynthetic process (GO:0006741)|protein tetramerization (GO:0051262)|response to carbohydrate (GO:0009743)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|manganese ion binding (GO:0030145)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|oxaloacetate decarboxylase activity (GO:0008948)			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)		AGCCAAGAATACGCTCTCCAT	0.428																																						uc003pjy.2																			0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(463-465)CGT>CGC		cytosolic malic enzyme 1	NADH(DB00157)						71.0	65.0	67.0					6																	84056027		2203	4300	6503	SO:0001819	synonymous_variant	4199				carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding	g.chr6:84056027A>G	X77244	CCDS34492.1	6q12	2012-10-02			ENSG00000065833	ENSG00000065833	1.1.1.40		6983	protein-coding gene	gene with protein product		154250				8187880	Standard	NM_002395		Approved		uc003pjy.3	P48163	OTTHUMG00000015111	ENST00000369705.3:c.465T>C	6.37:g.84056027A>G						ME1_uc011dzb.1_Silent_p.R80R|ME1_uc011dzc.1_5'UTR	p.R155R	NM_002395	NP_002386	P48163	MAOX_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0641)	5	571	-		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)	155				NADP (By similarity).	B4DZ70|Q16797|Q16855|Q53F72|Q5VWA2|Q9BWX8|Q9H1W3|Q9UIY4	Silent	SNP	ENST00000369705.3	37	c.465T>C	CCDS34492.1																																																																																				0.428	ME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041350.1		
PRDM13	59336	broad.mit.edu	37	6	100062503	100062503	+	Silent	SNP	C	C	T	rs546224169		TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr6:100062503C>T	ENST00000369215.4	+	4	2297	c.1992C>T	c.(1990-1992)gaC>gaT	p.D664D		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	664					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		AAGCGGGCGACGGCCCGGGTG	0.687																																						uc003pqg.1																			0					0						c.(1990-1992)GAC>GAT		PR domain containing 13							12.0	14.0	14.0					6																	100062503		1798	3909	5707	SO:0001819	synonymous_variant	59336				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:100062503C>T	AY004253	CCDS43487.1	6q16.2	2012-03-28			ENSG00000112238	ENSG00000112238			13998	protein-coding gene	gene with protein product							Standard	NM_021620		Approved		uc003pqg.1	Q9H4Q3	OTTHUMG00000015269	ENST00000369215.4:c.1992C>T	6.37:g.100062503C>T							p.D664D	NM_021620	NP_067633	Q9H4Q3	PRD13_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0598)	4	2253	+		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)	664					Q5TGC1|Q5TGC2	Silent	SNP	ENST00000369215.4	37	c.1992C>T	CCDS43487.1																																																																																				0.687	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041619.2		
DSE	29940	broad.mit.edu	37	6	116720360	116720360	+	Splice_Site	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr6:116720360G>A	ENST00000331677.3	+	3	391		c.e3-1		DSE_ENST00000540275.1_Splice_Site|DSE_ENST00000359564.2_Splice_Site|DSE_ENST00000537543.1_Splice_Site|DSE_ENST00000452085.3_Splice_Site			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase						carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		ATCTCACGTAGGATCTTTCGA	0.433																																						uc003pws.2																			0				ovary(1)	1						c.e2-1		dermatan sulfate epimerase precursor																																				SO:0001630	splice_region_variant	29940				dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity	g.chr6:116720360G>A	AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"""squamous cell carcinoma antigen recognized by T cells 2"""	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.-53-1G>A	6.37:g.116720360G>A						DSE_uc011ebf.1_Splice_Site|DSE_uc003pwq.1_Splice_Site|DSE_uc011ebg.1_Splice_Site_p.G2_splice|DSE_uc003pwt.2_Splice_Site		NM_001080976	NP_001074445	Q9UL01	DSE_HUMAN		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)	2	142	+		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)						Q5R3K6	Splice_Site	SNP	ENST00000331677.3	37	c.-52_splice	CCDS5107.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.497323	0.64186	.	.	ENSG00000111817	ENST00000540275;ENST00000537543	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DSE	116827053	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	5.538000	0.67193	2.941000	0.99782	0.655000	0.94253	.		0.433	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2	NM_013352	Intron
TBC1D32	221322	broad.mit.edu	37	6	121427228	121427228	+	Nonsense_Mutation	SNP	T	T	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr6:121427228T>A	ENST00000398212.2	-	30	3455	c.3406A>T	c.(3406-3408)Aag>Tag	p.K1136*	TBC1D32_ENST00000275159.6_Nonsense_Mutation_p.K1177*|TBC1D32_ENST00000398197.2_5'UTR	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	1136	Rab-GAP TBC.				cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										AACTCAGCCTTCAGTAGCATT	0.393																																						uc003pyo.1																			0				central_nervous_system(2)|ovary(1)	3						c.(3406-3408)AAG>TAG		hypothetical protein LOC221322							193.0	191.0	191.0					6																	121427228		1872	4091	5963	SO:0001587	stop_gained	221322				multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity	g.chr6:121427228T>A	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.3406A>T	6.37:g.121427228T>A	ENSP00000381270:p.Lys1136*						p.K1136*	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN		GBM - Glioblastoma multiforme(226;0.00521)	30	3474	-			1136			Rab-GAP TBC.		Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Nonsense_Mutation	SNP	ENST00000398212.2	37	c.3406A>T	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	T	41	8.551614	0.98859	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	.	.	.	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.4333	0.67266	0.0:0.0:0.0:1.0	.	.	.	.	X	1177;1136	.	ENSP00000275159:K1177X	K	-	1	0	C6orf170	121468927	1.000000	0.71417	0.544000	0.28141	0.226000	0.24999	6.666000	0.74446	2.239000	0.73571	0.528000	0.53228	AAG		0.393	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730	
SYNE1	23345	broad.mit.edu	37	6	152660497	152660497	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr6:152660497T>C	ENST00000367255.5	-	75	12831	c.12230A>G	c.(12229-12231)aAa>aGa	p.K4077R	SYNE1_ENST00000448038.1_Missense_Mutation_p.K4006R|SYNE1_ENST00000341594.5_Missense_Mutation_p.K3942R|SYNE1_ENST00000265368.4_Missense_Mutation_p.K4077R|SYNE1_ENST00000423061.1_Missense_Mutation_p.K4006R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4077					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTGAAGTGTTTGACCTGGAA	0.403										HNSCC(10;0.0054)																												uc010kiw.2																			0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(12229-12231)AAA>AGA		spectrin repeat containing, nuclear envelope 1							128.0	114.0	119.0					6																	152660497		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152660497T>C	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.12230A>G	6.37:g.152660497T>C	ENSP00000356224:p.Lys4077Arg	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.K4006R|SYNE1_uc003qou.3_Missense_Mutation_p.K4077R|SYNE1_uc010kja.1_Missense_Mutation_p.K782R	p.K4077R	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	75	12832	-		Ovarian(120;0.0955)	4077			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.12230A>G	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	20.3	3.974426	0.74246	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27	5.84	5.84	0.93424	.	0.000000	0.64402	D	0.000002	T	0.50034	0.1592	M	0.64997	1.995	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.74348	0.972;0.972;0.972;0.983	T	0.54282	-0.8317	10	0.72032	D	0.01	.	16.2169	0.82237	0.0:0.0:0.0:1.0	.	4077;4077;4077;4006	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	R	4077;4006;4077;4006;3942	ENSP00000356224:K4077R;ENSP00000396024:K4006R;ENSP00000265368:K4077R;ENSP00000390975:K4006R;ENSP00000341887:K3942R	ENSP00000265368:K4077R	K	-	2	0	SYNE1	152702190	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.632000	0.83247	2.223000	0.72356	0.533000	0.62120	AAA		0.403	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SNX13	23161	broad.mit.edu	37	7	17861198	17861198	+	Silent	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr7:17861198C>T	ENST00000409389.1	-	18	1984	c.1812G>A	c.(1810-1812)gaG>gaA	p.E604E	SNX13_ENST00000496855.1_5'UTR|SNX13_ENST00000428135.3_Silent_p.E593E			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	604	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					TCCACATCTCCTCACTGTTTA	0.413																																						uc003stw.1																			0				central_nervous_system(2)|kidney(1)	3						c.(1810-1812)GAG>GAA		SubName: Full=Putative uncharacterized protein SNX13; SubName: Full=Sorting nexin 13, isoform CRA_g;							160.0	158.0	159.0					7																	17861198		1934	4135	6069	SO:0001819	synonymous_variant	23161				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr7:17861198C>T	AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"""Sorting nexins"""	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.1812G>A	7.37:g.17861198C>T						SNX13_uc003stv.2_Silent_p.E593E|SNX13_uc010kuc.2_Silent_p.E390E|SNX13_uc010kub.2_5'UTR	p.E604E			Q9Y5W8	SNX13_HUMAN			18	2025	-	Lung NSC(10;0.0261)|all_lung(11;0.0521)		604			PX.		B2RCI9|O94821|Q8WVZ2|Q8WXH8	Silent	SNP	ENST00000409389.1	37	c.1812G>A																																																																																					0.413	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1	NM_015132	
CHN2	1124	broad.mit.edu	37	7	29407583	29407583	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr7:29407583A>G	ENST00000222792.6	+	3	654	c.124A>G	c.(124-126)Aga>Gga	p.R42G	CHN2_ENST00000546235.1_Missense_Mutation_p.R27G|CHN2_ENST00000539389.1_Missense_Mutation_p.R42G|CHN2_ENST00000495789.2_Missense_Mutation_p.R55G|CHN2_ENST00000539406.1_Missense_Mutation_p.R117G|CHN2_ENST00000435288.2_Missense_Mutation_p.R42G	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	42					positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						TCGTCCCAAGAGAATCATTTG	0.403																																					Ovarian(1;44 48 13232 18918 31480)	uc003szz.2																			0				ovary(2)	2						c.(124-126)AGA>GGA		beta chimerin isoform 2							117.0	114.0	115.0					7																	29407583		2203	4300	6503	SO:0001583	missense	1124				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr7:29407583A>G	L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1944	protein-coding gene	gene with protein product	"""beta chimerin"", ""chimaerin 2"""	602857	"""chimerin (chimaerin) 2"""			8175705	Standard	XM_005249602		Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000222792.6:c.124A>G	7.37:g.29407583A>G	ENSP00000222792:p.Arg42Gly					CHN2_uc011jzs.1_Missense_Mutation_p.R117G|CHN2_uc010kva.2_Intron|CHN2_uc010kvb.2_RNA|CHN2_uc010kvc.2_Intron|CHN2_uc011jzt.1_Missense_Mutation_p.R55G|CHN2_uc010kvd.2_Missense_Mutation_p.R42G|CHN2_uc011jzu.1_Missense_Mutation_p.R27G	p.R42G	NM_004067	NP_004058	P52757	CHIO_HUMAN			3	561	+			42					A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2	Missense_Mutation	SNP	ENST00000222792.6	37	c.124A>G	CCDS5420.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.110867	0.77210	.	.	ENSG00000106069	ENST00000439384;ENST00000539406;ENST00000222792;ENST00000435288;ENST00000409350;ENST00000495789;ENST00000539389;ENST00000546235	T;T;T;T;T;T;T;T	0.71579	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.58;-0.04	5.12	5.12	0.69794	.	0.099589	0.64402	D	0.000002	T	0.79902	0.4526	L	0.57536	1.79	0.80722	D	1	P;D;D;B;D	0.61080	0.882;0.967;0.989;0.116;0.967	P;P;D;B;P	0.75020	0.449;0.879;0.985;0.014;0.879	T	0.78494	-0.2182	10	0.34782	T	0.22	.	13.1551	0.59511	1.0:0.0:0.0:0.0	.	27;55;117;42;42	B7Z1W9;B7Z1V0;F5H003;B3VCG1;P52757	.;.;.;.;CHIO_HUMAN	G	117;117;42;42;55;55;42;27	ENSP00000409843:R117G;ENSP00000444063:R117G;ENSP00000222792:R42G;ENSP00000400282:R42G;ENSP00000386968:R55G;ENSP00000438587:R55G;ENSP00000440526:R42G;ENSP00000442812:R27G	ENSP00000222792:R42G	R	+	1	2	CHN2	29374108	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.522000	0.73783	1.934000	0.56057	0.477000	0.44152	AGA		0.403	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214228.2	NM_004067	
PLEKHA8	84725	broad.mit.edu	37	7	30088881	30088882	+	Frame_Shift_Ins	INS	-	-	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr7:30088881_30088882insA	ENST00000449726.1	+	5	830_831	c.480_481insA	c.(481-483)actfs	p.T161fs	PLEKHA8_ENST00000396257.2_Frame_Shift_Ins_p.T161fs|PLEKHA8_ENST00000396259.1_Frame_Shift_Ins_p.T161fs|PLEKHA8_ENST00000258679.7_Frame_Shift_Ins_p.T161fs	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	161					ER to Golgi ceramide transport (GO:0035621)|lipid transport (GO:0006869)|protein transport (GO:0015031)	membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ceramide binding (GO:0097001)|glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)|phosphatidylinositol-4-phosphate binding (GO:0070273)			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						CAACCTGTAATACTTTTCTGAA	0.465																																						uc003tam.1																			0				breast(3)|ovary(1)	4						c.(478-483)AATACTfs		pleckstrin homology domain containing, family A																																				SO:0001589	frameshift_variant	84725				protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity	g.chr7:30088881_30088882insA	BC053990	CCDS5424.1, CCDS56473.1, CCDS75574.1	7p21-p11.2	2013-01-10			ENSG00000106086	ENSG00000106086		"""Pleckstrin homology (PH) domain containing"""	30037	protein-coding gene	gene with protein product		608639				11001876	Standard	NM_001197027		Approved	FAPP2, MGC3358	uc003taq.3	Q96JA3	OTTHUMG00000097751	ENST00000449726.1:c.481dupA	7.37:g.30088882_30088882dupA	ENSP00000397947:p.Thr161fs					PLEKHA8_uc003tao.2_Frame_Shift_Ins_p.N44fs|PLEKHA8_uc003tap.1_Frame_Shift_Ins_p.N160fs|PLEKHA8_uc003tan.2_Frame_Shift_Ins_p.N160fs	p.N160fs	NM_032639	NP_116028	Q96JA3	PKHA8_HUMAN			5	571_572	+			160_161					B4DH00|Q7Z5V8|Q9BU78|Q9H274|Q9H8Z7	Frame_Shift_Ins	INS	ENST00000449726.1	37	c.480_481insA	CCDS56473.1																																																																																				0.465	PLEKHA8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032639	
CDK13	8621	broad.mit.edu	37	7	40117639	40117639	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr7:40117639C>T	ENST00000181839.4	+	10	3421	c.2816C>T	c.(2815-2817)cCt>cTt	p.P939L	CDK13_ENST00000340829.5_Missense_Mutation_p.P939L	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	939	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						GCAGTGTGGCCTGATGTAATC	0.368																																						uc003thh.3																			0				lung(2)|skin(2)|ovary(1)	5						c.(2815-2817)CCT>CTT		cell division cycle 2-like 5 isoform 1							234.0	214.0	221.0					7																	40117639		2203	4300	6503	SO:0001583	missense	8621				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr7:40117639C>T	M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.2816C>T	7.37:g.40117639C>T	ENSP00000181839:p.Pro939Leu					CDK13_uc003thi.3_Missense_Mutation_p.P939L|CDK13_uc003thj.2_5'UTR	p.P939L	NM_003718	NP_003709	Q14004	CDK13_HUMAN			10	3098	+			939			Protein kinase.		Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	ENST00000181839.4	37	c.2816C>T	CCDS5461.1	.	.	.	.	.	.	.	.	.	.	C	33	5.219837	0.95139	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.66099	-0.19;-0.19	5.61	5.61	0.85477	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.80803	0.4693	M	0.79011	2.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.79897	-0.1609	8	.	.	.	-9.2909	20.0184	0.97486	0.0:1.0:0.0:0.0	.	939;939	Q14004-2;Q14004	.;CDK13_HUMAN	L	939	ENSP00000181839:P939L;ENSP00000340557:P939L	.	P	+	2	0	CDK13	40084164	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.808000	0.96608	0.655000	0.94253	CCT		0.368	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718	
PSPH	5723	broad.mit.edu	37	7	56085002	56085002	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr7:56085002C>T	ENST00000395471.3	-	6	1151	c.346G>A	c.(346-348)Gta>Ata	p.V116I	PSPH_ENST00000459834.1_Intron|PSPH_ENST00000275605.3_Missense_Mutation_p.V116I			P78330	SERB_HUMAN	phosphoserine phosphatase	116					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|dephosphorylation (GO:0016311)|L-serine biosynthetic process (GO:0006564)|L-serine metabolic process (GO:0006563)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphoserine phosphatase activity (GO:0004647)|protein homodimerization activity (GO:0042803)	p.V116I(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ACATGCTCTACAATACTCCTA	0.393																																						uc003trg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(346-348)GTA>ATA		phosphoserine phosphatase							87.0	75.0	79.0					7																	56085002		2203	4300	6503	SO:0001583	missense	5723				L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity	g.chr7:56085002C>T	Y10275	CCDS5522.1	7p11.2	2012-10-02			ENSG00000146733	ENSG00000146733	3.1.3.3		9577	protein-coding gene	gene with protein product		172480		PSP		6297854, 9188776	Standard	NM_004577		Approved		uc003trh.3	P78330	OTTHUMG00000023441	ENST00000395471.3:c.346G>A	7.37:g.56085002C>T	ENSP00000378854:p.Val116Ile					PSPH_uc003trh.2_Missense_Mutation_p.V116I|PSPH_uc003tri.2_Missense_Mutation_p.V116I|PSPH_uc003trj.2_Missense_Mutation_p.V145I	p.V116I	NM_004577	NP_004568	P78330	SERB_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		5	709	-	Breast(14;0.214)		116					B2RCR5|Q7Z3S5	Missense_Mutation	SNP	ENST00000395471.3	37	c.346G>A	CCDS5522.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.432510	0.25813	.	.	ENSG00000146733	ENST00000275605;ENST00000395471;ENST00000421626	D;D;D	0.81908	-1.55;-1.55;-1.55	4.85	4.85	0.62838	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.65228	0.2671	N	0.05124	-0.11	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.18263	0.021;0.021	T	0.62992	-0.6736	10	0.02654	T	1	-16.2549	17.1115	0.86676	0.0:1.0:0.0:0.0	.	116;116	Q53EY1;P78330	.;SERB_HUMAN	I	116	ENSP00000275605:V116I;ENSP00000378854:V116I;ENSP00000398653:V116I	ENSP00000275605:V116I	V	-	1	0	PSPH	56052496	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.551000	0.82182	2.297000	0.77311	0.579000	0.79373	GTA		0.393	PSPH-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343304.1	NM_004577	
ABCB1	5243	broad.mit.edu	37	7	87148696	87148696	+	Missense_Mutation	SNP	C	C	T	rs144369247	byFrequency	TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr7:87148696C>T	ENST00000265724.3	-	24	3290	c.2873G>A	c.(2872-2874)cGg>cAg	p.R958Q	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.R894Q	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	958	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	GGCTCCAAACCGGAAACATCC	0.383													C|||	2	0.000399361	0.0	0.0	5008	,	,		21852	0.0		0.0	False		,,,				2504	0.002					uc003uiz.1																			0				ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(2872-2874)CGG>CAG		ATP-binding cassette, subfamily B, member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	C	GLN/ARG	0,4406		0,0,2203	95.0	87.0	90.0		2873	4.9	1.0	7	dbSNP_134	90	1,8599	1.2+/-3.3	0,1,4299	no	missense	ABCB1	NM_000927.4	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	958/1281	87148696	1,13005	2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87148696C>T	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.2873G>A	7.37:g.87148696C>T	ENSP00000265724:p.Arg958Gln					ABCB1_uc011khc.1_Missense_Mutation_p.R894Q	p.R958Q	NM_000927	NP_000918	P08183	MDR1_HUMAN			24	3291	-	Esophageal squamous(14;0.00164)		958			ABC transmembrane type-1 2.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.2873G>A	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.556119	0.65425	0.0	1.16E-4	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.89617	-2.54;-2.54	5.79	4.92	0.64577	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.111652	0.64402	N	0.000013	D	0.87168	0.6110	M	0.73753	2.245	0.44155	D	0.996951	P;P	0.45715	0.672;0.865	B;B	0.35278	0.076;0.199	D	0.87917	0.2701	10	0.56958	D	0.05	-10.1447	14.8877	0.70582	0.0:0.9313:0.0:0.0687	.	894;958	B5AK60;P08183	.;MDR1_HUMAN	Q	739;958;894	ENSP00000265724:R958Q;ENSP00000444095:R894Q	ENSP00000265724:R958Q	R	-	2	0	ABCB1	86986632	0.994000	0.37717	1.000000	0.80357	0.968000	0.65278	3.169000	0.50809	1.459000	0.47892	0.561000	0.74099	CGG		0.383	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927	
SAMD9L	219285	broad.mit.edu	37	7	92761184	92761184	+	Silent	SNP	T	T	C			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr7:92761184T>C	ENST00000318238.4	-	5	5317	c.4101A>G	c.(4099-4101)ctA>ctG	p.L1367L	SAMD9L_ENST00000437805.1_Silent_p.L1367L|SAMD9L_ENST00000411955.1_Silent_p.L1367L	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1367					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTGCTGCAGTAGGAAGGCAT	0.383																																						uc003umh.1																			0				ovary(4)	4						c.(4099-4101)CTA>CTG		sterile alpha motif domain containing 9-like							163.0	158.0	160.0					7																	92761184		2203	4299	6502	SO:0001819	synonymous_variant	219285							g.chr7:92761184T>C	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.4101A>G	7.37:g.92761184T>C						SAMD9L_uc003umj.1_Silent_p.L1367L|SAMD9L_uc003umi.1_Silent_p.L1367L|SAMD9L_uc010lfb.1_Silent_p.L1367L|SAMD9L_uc003umk.1_Silent_p.L1367L|SAMD9L_uc010lfc.1_Silent_p.L1367L|SAMD9L_uc010lfd.1_Silent_p.L1367L|SAMD9L_uc011khx.1_3'UTR	p.L1367L	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	5317	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		1367					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Silent	SNP	ENST00000318238.4	37	c.4101A>G	CCDS34681.1																																																																																				0.383	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703	
MUC17	140453	broad.mit.edu	37	7	100685627	100685627	+	Missense_Mutation	SNP	A	A	G	rs199996089		TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr7:100685627A>G	ENST00000306151.4	+	3	10994	c.10930A>G	c.(10930-10932)Acc>Gcc	p.T3644A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3644	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCCTGTCAGCACCACATCGGT	0.478																																						uc003uxp.1																			0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(10930-10932)ACC>GCC		mucin 17 precursor							176.0	161.0	166.0					7																	100685627		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100685627A>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.10930A>G	7.37:g.100685627A>G	ENSP00000302716:p.Thr3644Ala					MUC17_uc010lho.1_RNA	p.T3644A	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	10983	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3644			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|58.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.10930A>G	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	a	7.536	0.659659	0.14645	.	.	ENSG00000169876	ENST00000306151	T	0.01821	4.62	1.22	-0.0325	0.13905	.	.	.	.	.	T	0.02047	0.0064	N	0.08118	0	0.09310	N	1	P	0.46912	0.886	D	0.67103	0.949	T	0.43261	-0.9402	9	0.08599	T	0.76	.	4.4328	0.11536	0.778:0.0:0.222:0.0	.	3644	Q685J3	MUC17_HUMAN	A	3644	ENSP00000302716:T3644A	ENSP00000302716:T3644A	T	+	1	0	MUC17	100472347	0.001000	0.12720	0.000000	0.03702	0.014000	0.08584	0.413000	0.21148	-0.018000	0.14079	0.156000	0.16432	ACC		0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
PTPRZ1	5803	broad.mit.edu	37	7	121651361	121651361	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr7:121651361A>G	ENST00000393386.2	+	12	2672	c.2261A>G	c.(2260-2262)aAt>aGt	p.N754S	PTPRZ1_ENST00000483028.1_3'UTR|PTPRZ1_ENST00000449182.1_Missense_Mutation_p.N754S	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	754					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CCGGTATACAATGGTGAGACA	0.488																																						uc003vjy.2																			0				ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						c.(2260-2262)AAT>AGT		protein tyrosine phosphatase, receptor-type,							184.0	164.0	171.0					7																	121651361		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121651361A>G	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.2261A>G	7.37:g.121651361A>G	ENSP00000377047:p.Asn754Ser					PTPRZ1_uc003vjz.2_Missense_Mutation_p.N754S|PTPRZ1_uc011knt.1_Missense_Mutation_p.N204S	p.N754S	NM_002851	NP_002842	P23471	PTPRZ_HUMAN			12	2656	+			754			Extracellular (Potential).		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.2261A>G	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	A	14.22	2.470213	0.43942	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.75938	0.57;-0.98	5.87	5.87	0.94306	.	0.073354	0.56097	D	0.000024	D	0.85526	0.5717	M	0.72894	2.215	0.42125	D	0.991447	D;D;D	0.71674	0.998;0.997;0.997	D;D;D	0.80764	0.994;0.985;0.985	D	0.87288	0.2297	10	0.87932	D	0	.	16.2622	0.82552	1.0:0.0:0.0:0.0	.	754;754;754	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	S	754	ENSP00000377047:N754S;ENSP00000410000:N754S	ENSP00000377047:N754S	N	+	2	0	PTPRZ1	121438597	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.383000	0.79741	2.242000	0.73789	0.533000	0.62120	AAT		0.488	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851	
MGAM2	93432	broad.mit.edu	37	7	141833950	141833950	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr7:141833950G>A	ENST00000477922.3	+	7	799	c.745G>A	c.(745-747)Gag>Aag	p.E249K	RP11-1220K2.2_ENST00000550469.2_Missense_Mutation_p.E249K																endometrium(1)|lung(5)	6						TACCCCCACCGAGGTGAGGTG	0.532																																						uc003vwz.2																			0					0						c.(745-747)GAG>AAG		RecName: Full=Putative maltase-glucoamylase-like protein LOC93432;																																				SO:0001583	missense	93432							g.chr7:141833950G>A																												ENST00000477922.3:c.745G>A	7.37:g.141833950G>A	ENSP00000420449:p.Glu249Lys						p.E249K	NR_003715						7	804	+									Missense_Mutation	SNP	ENST00000477922.3	37	c.745G>A		.	.	.	.	.	.	.	.	.	.	.	8.796	0.931819	0.18131	.	.	ENSG00000257743	ENST00000550469;ENST00000477922	D	0.84944	-1.92	4.76	-1.95	0.07548	Glycoside hydrolase-type carbohydrate-binding (1);	.	.	.	.	T	0.66228	0.2768	.	.	.	.	.	.	B	0.27679	0.185	B	0.12156	0.007	T	0.56517	-0.7966	7	0.10111	T	0.7	.	7.9373	0.29937	0.209:0.3198:0.4712:0.0	.	249	Q2M2H8	MGAL2_HUMAN	K	249	ENSP00000447431:E249K	ENSP00000380641:E249K	E	+	1	0	RP11-1220K2.2	141480419	0.741000	0.28217	0.002000	0.10522	0.104000	0.19210	0.995000	0.29706	-0.839000	0.04212	-2.069000	0.00389	GAG		0.532	RP11-1220K2.2-003	PUTATIVE	not_best_in_genome_evidence|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000351325.3		
OR6V1	346517	broad.mit.edu	37	7	142749543	142749543	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr7:142749543G>A	ENST00000418316.1	+	1	127	c.106G>A	c.(106-108)Gcc>Acc	p.A36T		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	36						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TTATCTTCTCGCCTTCATGGG	0.498																																						uc011ksv.1																			0				ovary(1)	1						c.(106-108)GCC>ACC		olfactory receptor, family 6, subfamily V,							227.0	216.0	219.0					7																	142749543		1994	4167	6161	SO:0001583	missense	346517				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:142749543G>A		CCDS47728.1	7q34	2014-05-06			ENSG00000225781	ENSG00000225781		"""GPCR / Class A : Olfactory receptors"""	15090	protein-coding gene	gene with protein product						12732197	Standard	NM_001001667		Approved	GPR138	uc011ksv.2	Q8N148	OTTHUMG00000158385	ENST00000418316.1:c.106G>A	7.37:g.142749543G>A	ENSP00000396085:p.Ala36Thr						p.A36T	NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN			1	106	+	Melanoma(164;0.059)		36			Helical; Name=1; (Potential).		A4D2I0|B9EH48|Q6IF70	Missense_Mutation	SNP	ENST00000418316.1	37	c.106G>A	CCDS47728.1	.	.	.	.	.	.	.	.	.	.	G	1.211	-0.629570	0.03610	.	.	ENSG00000225781	ENST00000418316	T	0.04015	3.73	4.14	-2.94	0.05581	.	.	.	.	.	T	0.00998	0.0033	N	0.00677	-1.265	0.09310	N	1	B	0.30686	0.29	B	0.17722	0.019	T	0.41662	-0.9496	9	0.23302	T	0.38	.	0.3551	0.00355	0.3646:0.1376:0.218:0.2798	.	36	Q8N148	OR6V1_HUMAN	T	36	ENSP00000396085:A36T	ENSP00000396085:A36T	A	+	1	0	OR6V1	142459665	0.002000	0.14202	0.000000	0.03702	0.201000	0.24016	0.543000	0.23237	-1.012000	0.03387	0.561000	0.74099	GCC		0.498	OR6V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350860.1		
IDO2	169355	broad.mit.edu	37	8	39836613	39836613	+	Nonsense_Mutation	SNP	A	A	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr8:39836613A>T	ENST00000389060.4	+	3	223	c.223A>T	c.(223-225)Aag>Tag	p.K75*	IDO2_ENST00000343295.4_3'UTR|RP11-44K6.3_ENST00000517623.1_RNA|IDO2_ENST00000502986.2_Nonsense_Mutation_p.K88*			Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	75					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						CCAGTTCCTGAAGGGTCACCG	0.637																																						uc010lwy.1																			0				ovary(2)	2						c.(262-264)AAG>TAG		indoleamine-pyrrole 2,3 dioxygenase-like 1							27.0	30.0	29.0					8																	39836613		1991	4168	6159	SO:0001587	stop_gained	169355				tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity	g.chr8:39836613A>T	AK128691		8p11.21	2012-04-19	2009-01-07	2009-01-07	ENSG00000188676	ENSG00000188676			27269	protein-coding gene	gene with protein product		612129	"""indoleamine-pyrrole 2,3 dioxygenase-like 1"""	INDOL1			Standard	NM_194294		Approved		uc010lwy.1	Q6ZQW0	OTTHUMG00000141271	ENST00000389060.4:c.223A>T	8.37:g.39836613A>T	ENSP00000426447:p.Lys75*					IDO2_uc003xno.1_RNA|IDO2_uc010lwz.1_5'UTR	p.K88*	NM_194294	NP_919270	Q6ZQW0	I23O2_HUMAN			4	504	+			75					A4UD41	Nonsense_Mutation	SNP	ENST00000389060.4	37	c.262A>T		.	.	.	.	.	.	.	.	.	.	A	17.98	3.520737	0.64747	.	.	ENSG00000188676	ENST00000502986;ENST00000389060	.	.	.	5.36	4.18	0.49190	.	0.805437	0.11873	N	0.521212	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.4168	0.38525	0.8207:0.1793:0.0:0.0	.	.	.	.	X	88;75	.	.	K	+	1	0	IDO2	39955770	0.001000	0.12720	0.007000	0.13788	0.185000	0.23345	0.406000	0.21032	0.869000	0.35703	0.383000	0.25322	AAG		0.637	IDO2-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372742.1	NM_194294	
FBXO43	286151	broad.mit.edu	37	8	101149805	101149805	+	Silent	SNP	T	T	C			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr8:101149805T>C	ENST00000428847.2	-	3	1978	c.1662A>G	c.(1660-1662)aaA>aaG	p.K554K		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	554					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)			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)			CAGAATCTGTTTTCAGTTGTG	0.308																																						uc003yjd.2																			0				kidney(1)|skin(1)	2						c.(1660-1662)AAA>AAG		F-box protein 43 isoform b							109.0	101.0	104.0					8																	101149805		1811	4067	5878	SO:0001819	synonymous_variant	286151				meiosis		zinc ion binding	g.chr8:101149805T>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.1662A>G	8.37:g.101149805T>C						FBXO43_uc003yje.2_Silent_p.K520K|FBXO43_uc010mbp.1_Silent_p.K554K	p.K554K	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)		3	2375	-	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		554						Silent	SNP	ENST00000428847.2	37	c.1662A>G	CCDS47904.1																																																																																				0.308	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380380.1	XM_209918	
TRPM6	140803	broad.mit.edu	37	9	77436668	77436668	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr9:77436668G>T	ENST00000360774.1	-	8	1164	c.927C>A	c.(925-927)gaC>gaA	p.D309E	TRPM6_ENST00000449912.2_Missense_Mutation_p.D304E|TRPM6_ENST00000361255.3_Missense_Mutation_p.D304E|TRPM6_ENST00000451710.3_Missense_Mutation_p.D309E|TRPM6_ENST00000376864.4_Missense_Mutation_p.D309E|TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000376872.3_Missense_Mutation_p.D309E|TRPM6_ENST00000376871.3_Missense_Mutation_p.D309E	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	309					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTGGGTCCTTGTCCTTGACAG	0.592																																						uc004ajl.1																			0				lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						c.(925-927)GAC>GAA		transient receptor potential cation channel,							155.0	109.0	125.0					9																	77436668		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77436668G>T	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.927C>A	9.37:g.77436668G>T	ENSP00000354006:p.Asp309Glu					TRPM6_uc004ajk.1_Missense_Mutation_p.D304E|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Missense_Mutation_p.D309E|TRPM6_uc010mpd.1_Missense_Mutation_p.D309E|TRPM6_uc010mpe.1_Intron	p.D309E	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN			8	1165	-			309			Cytoplasmic (Potential).		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.927C>A	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	G	8.826	0.938746	0.18206	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376864	T;T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3;1.3	5.47	4.54	0.55810	.	0.344486	0.36200	N	0.002735	T	0.14527	0.0351	N	0.03903	-0.33	0.20196	N	0.99993	B;B;B;B	0.18741	0.001;0.005;0.002;0.03	B;B;B;B	0.16289	0.004;0.007;0.011;0.015	T	0.12967	-1.0527	10	0.05833	T	0.94	.	12.5995	0.56489	0.0:0.1256:0.744:0.1304	.	309;309;309;304	Q9BX84-6;Q9BX84-5;Q9BX84;Q9BX84-3	.;.;TRPM6_HUMAN;.	E	309;309;309;309;304;304;309	ENSP00000354006:D309E;ENSP00000407341:D309E;ENSP00000366068:D309E;ENSP00000366067:D309E;ENSP00000396672:D304E;ENSP00000354962:D304E;ENSP00000366060:D309E	ENSP00000354006:D309E	D	-	3	2	TRPM6	76626488	0.004000	0.15560	0.744000	0.31058	0.944000	0.59088	0.518000	0.22847	2.567000	0.86603	0.561000	0.74099	GAC		0.592	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662	
MXRA5	25878	broad.mit.edu	37	X	3242355	3242355	+	Silent	SNP	G	G	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chrX:3242355G>T	ENST00000217939.6	-	5	1525	c.1371C>A	c.(1369-1371)acC>acA	p.T457T		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	457						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GAGAATACTGGGTGTAGTAGG	0.488																																						uc004crg.3																			0				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(1369-1371)ACC>ACA		adlican precursor							124.0	121.0	122.0					X																	3242355		2203	4300	6503	SO:0001819	synonymous_variant	25878					extracellular region		g.chrX:3242355G>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.1371C>A	X.37:g.3242355G>T							p.T457T	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			5	1528	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	457					Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	c.1371C>A	CCDS14124.1																																																																																				0.488	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419	
DCAF8L1	139425	broad.mit.edu	37	X	27999353	27999353	+	Silent	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chrX:27999353C>T	ENST00000441525.1	-	1	213	c.99G>A	c.(97-99)acG>acA	p.T33T		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	33										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						AGGAGGCCGCCGTCACCGCTG	0.567																																						uc004dbx.1																			0				ovary(3)|skin(1)	4						c.(97-99)ACG>ACA		DDB1 and CUL4 associated factor 8-like 1							54.0	43.0	47.0					X																	27999353		2202	4300	6502	SO:0001819	synonymous_variant	139425							g.chrX:27999353C>T		CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"""WD repeat domain containing"""	31810	protein-coding gene	gene with protein product			"""WD repeat domain 42B"""	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.99G>A	X.37:g.27999353C>T							p.T33T	NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN			1	214	-			33					B3KXX1	Silent	SNP	ENST00000441525.1	37	c.99G>A	CCDS35222.1																																																																																				0.567	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690	
GPR34	2857	broad.mit.edu	37	X	41555890	41555890	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chrX:41555890G>A	ENST00000378142.4	+	3	1288	c.1004G>A	c.(1003-1005)cGc>cAc	p.R335H	CASK_ENST00000318588.9_Intron|CASK_ENST00000378154.1_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000421587.2_Intron|CASK_ENST00000378158.1_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000442742.2_Intron|GPR34_ENST00000378138.5_Missense_Mutation_p.R335H	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	335					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						AGTAACATTCGCAAAATAATG	0.373																																						uc004dfp.3																			0				ovary(1)	1						c.(1003-1005)CGC>CAC		G protein-coupled receptor 34							103.0	87.0	92.0					X																	41555890		2202	4300	6502	SO:0001583	missense	2857					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:41555890G>A	AF039686	CCDS14258.1	Xp11.4	2012-08-21			ENSG00000171659	ENSG00000171659		"""GPCR / Class A : Orphans"""	4490	protein-coding gene	gene with protein product		300241				10395919, 10036181	Standard	NM_005300		Approved		uc004dfq.4	Q9UPC5	OTTHUMG00000021375	ENST00000378142.4:c.1004G>A	X.37:g.41555890G>A	ENSP00000367384:p.Arg335His					CASK_uc004dfl.3_Intron|CASK_uc004dfm.3_Intron|CASK_uc004dfn.3_Intron|GPR34_uc004dfq.3_Missense_Mutation_p.R335H|GPR34_uc010nhg.2_Missense_Mutation_p.R335H|GPR34_uc004dfr.3_Missense_Mutation_p.R335H	p.R335H	NM_001097579	NP_001091048	Q9UPC5	GPR34_HUMAN			3	1288	+			335			Cytoplasmic (Potential).		O95853	Missense_Mutation	SNP	ENST00000378142.4	37	c.1004G>A	CCDS14258.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711578	0.68730	.	.	ENSG00000171659	ENST00000378142;ENST00000378138;ENST00000535368	T;T	0.58358	0.34;0.34	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.65165	0.2665	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.68085	-0.5502	10	0.87932	D	0	-9.9376	18.8763	0.92337	0.0:0.0:1.0:0.0	.	335	Q9UPC5	GPR34_HUMAN	H	335;335;288	ENSP00000367384:R335H;ENSP00000367378:R335H	ENSP00000367378:R335H	R	+	2	0	GPR34	41440834	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.689000	0.74562	2.405000	0.81733	0.594000	0.82650	CGC		0.373	GPR34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056264.1	NM_005300	
DGAT2L6	347516	broad.mit.edu	37	X	69420246	69420246	+	Missense_Mutation	SNP	T	T	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chrX:69420246T>A	ENST00000333026.3	+	4	509	c.409T>A	c.(409-411)Ttt>Att	p.F137I		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	137					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						CATCACTCCCTTTGTAGGGAC	0.413																																						uc004dxx.1																			0				ovary(1)	1						c.(409-411)TTT>ATT		diacylglycerol O-acyltransferase 2-like 6							133.0	105.0	115.0					X																	69420246		2203	4300	6503	SO:0001583	missense	347516				lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	g.chrX:69420246T>A	AK129500	CCDS14397.1	Xq13.1	2008-02-05			ENSG00000184210	ENSG00000184210			23250	protein-coding gene	gene with protein product		300926				15671038	Standard	NM_198512		Approved	DC3, FLJ25989	uc004dxx.1	Q6ZPD8	OTTHUMG00000021774	ENST00000333026.3:c.409T>A	X.37:g.69420246T>A	ENSP00000328036:p.Phe137Ile						p.F137I	NM_198512	NP_940914	Q6ZPD8	DG2L6_HUMAN			4	506	+			137					Q6IEE2	Missense_Mutation	SNP	ENST00000333026.3	37	c.409T>A	CCDS14397.1	.	.	.	.	.	.	.	.	.	.	T	16.66	3.183748	0.57800	.	.	ENSG00000184210	ENST00000333026	D	0.91068	-2.78	5.35	5.35	0.76521	.	0.691939	0.14187	N	0.335597	D	0.90061	0.6896	M	0.71206	2.165	0.41596	D	0.988826	B	0.24317	0.101	B	0.29942	0.109	D	0.86571	0.1847	10	0.35671	T	0.21	-4.3172	12.077	0.53649	0.0:0.0:0.0:1.0	.	137	Q6ZPD8	DG2L6_HUMAN	I	137	ENSP00000328036:F137I	ENSP00000328036:F137I	F	+	1	0	DGAT2L6	69336971	0.663000	0.27448	0.686000	0.30086	0.784000	0.44337	4.369000	0.59511	1.982000	0.57802	0.486000	0.48141	TTT		0.413	DGAT2L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057067.1	NM_198512	
CENPI	2491	broad.mit.edu	37	X	100382542	100382542	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chrX:100382542A>G	ENST00000372927.1	+	10	1239	c.962A>G	c.(961-963)gAa>gGa	p.E321G	CENPI_ENST00000218507.5_Missense_Mutation_p.E321G|CENPI_ENST00000423383.1_Missense_Mutation_p.E321G|CENPI_ENST00000372926.1_Missense_Mutation_p.E321G	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	321					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|sex differentiation (GO:0007548)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						TACACTAAAGAATGTGGAAAA	0.353																																						uc004egx.2																			0				skin(1)	1						c.(961-963)GAA>GGA		centromere protein I							83.0	79.0	80.0					X																	100382542		2203	4300	6503	SO:0001583	missense	2491				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding	g.chrX:100382542A>G	X97249	CCDS14479.1	Xq22.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000102384	ENSG00000102384			3968	protein-coding gene	gene with protein product		300065	"""FSH primary response (LRPR1, rat) homolog 1"", ""FSH primary response (LRPR1 homolog, rat) 1"""	FSHPRH1		16622420	Standard	NM_006733		Approved	LRPR1, CENP-I, Mis6	uc004egx.3	Q92674	OTTHUMG00000022018	ENST00000372927.1:c.962A>G	X.37:g.100382542A>G	ENSP00000362018:p.Glu321Gly					CENPI_uc011mrg.1_Missense_Mutation_p.E321G|CENPI_uc004egy.2_Missense_Mutation_p.E321G	p.E321G	NM_006733	NP_006724	Q92674	CENPI_HUMAN			10	1232	+			321					Q5JWZ9|Q96ED0	Missense_Mutation	SNP	ENST00000372927.1	37	c.962A>G	CCDS14479.1	.	.	.	.	.	.	.	.	.	.	a	7.642	0.681017	0.14907	.	.	ENSG00000102384	ENST00000423383;ENST00000218507;ENST00000372926;ENST00000372927	.	.	.	5.27	4.11	0.48088	.	0.519730	0.20694	N	0.087418	T	0.33760	0.0874	M	0.63428	1.95	0.09310	N	1	B;B	0.13145	0.007;0.007	B;B	0.16289	0.011;0.015	T	0.29671	-1.0004	9	0.24483	T	0.36	-12.1507	3.0834	0.06270	0.639:0.1427:0.0781:0.1401	.	321;321	B4DZL4;Q92674	.;CENPI_HUMAN	G	321	.	ENSP00000218507:E321G	E	+	2	0	CENPI	100269198	0.006000	0.16342	0.935000	0.37517	0.398000	0.30690	0.343000	0.19944	0.757000	0.33036	0.412000	0.27726	GAA		0.353	CENPI-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057519.1	NM_006733	
ARMCX5	64860	broad.mit.edu	37	X	101858012	101858012	+	Frame_Shift_Del	DEL	C	C	-			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chrX:101858012delC	ENST00000604957.1	+	1	3565	c.943delC	c.(943-945)cttfs	p.L315fs	ARMCX5_ENST00000372742.1_Frame_Shift_Del_p.L315fs|ARMCX5_ENST00000246174.2_Frame_Shift_Del_p.L315fs|ARMCX5_ENST00000537008.1_Frame_Shift_Del_p.L315fs|ARMCX5_ENST00000541409.1_Frame_Shift_Del_p.L315fs|RP4-769N13.6_ENST00000476910.2_RNA|ARMCX5_ENST00000536530.1_Frame_Shift_Del_p.L315fs|RP4-769N13.7_ENST00000602441.1_RNA	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	315										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						GTTTGATAAACTTGTTGCCCT	0.388																																						uc004ejg.2																			0				ovary(1)	1						c.(943-945)CTTfs		armadillo repeat containing, X-linked 5							65.0	61.0	63.0					X																	101858012		2202	4300	6502	SO:0001589	frameshift_variant	64860						binding	g.chrX:101858012delC		CCDS14500.1	Xq22.1-q22.3	2014-03-21			ENSG00000125962	ENSG00000125962		"""Armadillo repeat containing"""	25772	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_022838		Approved	FLJ12969, GASP5	uc004ejh.3	Q6P1M9	OTTHUMG00000022062	ENST00000604957.1:c.943delC	X.37:g.101858012delC	ENSP00000474720:p.Leu315fs					ARMCX5_uc004ejh.2_Frame_Shift_Del_p.L315fs	p.L315fs	NM_022838	NP_073749	Q6P1M9	ARMX5_HUMAN			6	1824	+			315			ARM 1.		B3KU88|D3DX99|Q68DB4|Q9BVZ3|Q9H969	Frame_Shift_Del	DEL	ENST00000604957.1	37	c.943delC	CCDS14500.1																																																																																				0.388	ARMCX5-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469659.1	NM_022838	
ARMCX5	64860	broad.mit.edu	37	X	101858029	101858029	+	Missense_Mutation	SNP	G	G	C			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chrX:101858029G>C	ENST00000604957.1	+	1	3582	c.960G>C	c.(958-960)aaG>aaC	p.K320N	ARMCX5_ENST00000372742.1_Missense_Mutation_p.K320N|ARMCX5_ENST00000246174.2_Missense_Mutation_p.K320N|ARMCX5_ENST00000537008.1_Missense_Mutation_p.K320N|ARMCX5_ENST00000541409.1_Missense_Mutation_p.K320N|RP4-769N13.6_ENST00000476910.2_RNA|ARMCX5_ENST00000536530.1_Missense_Mutation_p.K320N|RP4-769N13.7_ENST00000602441.1_RNA	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	320										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						CCCTCCTTAAGTTAACTAAGG	0.383																																						uc004ejg.2																			0				ovary(1)	1						c.(958-960)AAG>AAC		armadillo repeat containing, X-linked 5							68.0	66.0	66.0					X																	101858029		2203	4300	6503	SO:0001583	missense	64860						binding	g.chrX:101858029G>C		CCDS14500.1	Xq22.1-q22.3	2014-03-21			ENSG00000125962	ENSG00000125962		"""Armadillo repeat containing"""	25772	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_022838		Approved	FLJ12969, GASP5	uc004ejh.3	Q6P1M9	OTTHUMG00000022062	ENST00000604957.1:c.960G>C	X.37:g.101858029G>C	ENSP00000474720:p.Lys320Asn					ARMCX5_uc004ejh.2_Missense_Mutation_p.K320N	p.K320N	NM_022838	NP_073749	Q6P1M9	ARMX5_HUMAN			6	1841	+			320			ARM 1.		B3KU88|D3DX99|Q68DB4|Q9BVZ3|Q9H969	Missense_Mutation	SNP	ENST00000604957.1	37	c.960G>C	CCDS14500.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.155029	0.38021	.	.	ENSG00000125962	ENST00000246174;ENST00000537008;ENST00000541409;ENST00000536530;ENST00000372742	T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41	3.9	1.09	0.20402	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.44285	D	0.000471	T	0.36303	0.0962	L	0.46157	1.445	0.28677	N	0.905316	D	0.67145	0.996	D	0.64687	0.928	T	0.16070	-1.0415	10	0.40728	T	0.16	-10.5721	3.3049	0.06996	0.2558:0.2193:0.5248:0.0	.	320	Q6P1M9	ARMX5_HUMAN	N	320	ENSP00000246174:K320N;ENSP00000439001:K320N;ENSP00000446385:K320N;ENSP00000445851:K320N;ENSP00000361827:K320N	ENSP00000246174:K320N	K	+	3	2	ARMCX5	101744685	0.998000	0.40836	0.624000	0.29186	0.816000	0.46133	0.310000	0.19356	0.105000	0.17753	0.600000	0.82982	AAG		0.383	ARMCX5-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469659.1	NM_022838	
SLITRK4	139065	broad.mit.edu	37	X	142717642	142717642	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chrX:142717642C>T	ENST00000381779.4	-	2	1508	c.1283G>A	c.(1282-1284)cGc>cAc	p.R428H	SLITRK4_ENST00000338017.4_Missense_Mutation_p.R428H|SLITRK4_ENST00000356928.1_Missense_Mutation_p.R428H	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	428						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					ATATAGCCTGCGTAAATTAGT	0.358																																						uc004fbx.2																			0				upper_aerodigestive_tract(1)|large_intestine(1)	2						c.(1282-1284)CGC>CAC		slit and trk like 4 protein precursor							98.0	86.0	90.0					X																	142717642		2203	4300	6503	SO:0001583	missense	139065					integral to membrane		g.chrX:142717642C>T	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.1283G>A	X.37:g.142717642C>T	ENSP00000371198:p.Arg428His					SLITRK4_uc004fby.2_Missense_Mutation_p.R428H	p.R428H	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN			2	1659	-	Acute lymphoblastic leukemia(192;6.56e-05)		428			Extracellular (Potential).|LRR 9.		Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	c.1283G>A	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.807959	0.50421	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.59772	0.24;0.24;0.24	5.38	5.38	0.77491	.	0.056847	0.64402	D	0.000003	T	0.67841	0.2936	L	0.33137	0.985	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.71073	-0.4698	10	0.72032	D	0.01	-8.338	16.8528	0.85998	0.0:1.0:0.0:0.0	.	428	Q8IW52	SLIK4_HUMAN	H	428	ENSP00000371198:R428H;ENSP00000349400:R428H;ENSP00000336627:R428H	ENSP00000336627:R428H	R	-	2	0	SLITRK4	142545308	1.000000	0.71417	0.976000	0.42696	0.957000	0.61999	3.309000	0.51903	2.384000	0.81235	0.594000	0.82650	CGC		0.358	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078	
PASD1	139135	broad.mit.edu	37	X	150828252	150828252	+	Missense_Mutation	SNP	C	C	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chrX:150828252C>A	ENST00000370357.4	+	10	1030	c.785C>A	c.(784-786)tCt>tAt	p.S262Y		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	262						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TTTGTAGATTCTGATTCAACT	0.373																																						uc004fev.3																			0				ovary(3)	3						c.(784-786)TCT>TAT		PAS domain containing 1							224.0	182.0	196.0					X																	150828252		2203	4300	6503	SO:0001583	missense	139135					nucleus	signal transducer activity	g.chrX:150828252C>A	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.785C>A	X.37:g.150828252C>A	ENSP00000359382:p.Ser262Tyr						p.S262Y	NM_173493	NP_775764	Q8IV76	PASD1_HUMAN			10	1117	+	Acute lymphoblastic leukemia(192;6.56e-05)		262					Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	ENST00000370357.4	37	c.785C>A	CCDS35431.1	.	.	.	.	.	.	.	.	.	.	C	9.659	1.143612	0.21205	.	.	ENSG00000166049	ENST00000370357	T	0.70164	-0.46	3.47	1.65	0.23941	.	.	.	.	.	T	0.61464	0.2349	L	0.27053	0.805	0.09310	N	1	D	0.58268	0.982	P	0.56474	0.799	T	0.50890	-0.8774	9	0.87932	D	0	.	4.0977	0.09998	0.0:0.6207:0.2396:0.1397	.	262	Q8IV76	PASD1_HUMAN	Y	262	ENSP00000359382:S262Y	ENSP00000359382:S262Y	S	+	2	0	PASD1	150578908	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	-0.989000	0.03736	0.315000	0.23110	0.600000	0.82982	TCT		0.373	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493	
DUSP9	1852	broad.mit.edu	37	X	152915703	152915703	+	Silent	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chrX:152915703G>A	ENST00000342782.3	+	4	1363	c.1098G>A	c.(1096-1098)ccG>ccA	p.P366P	DUSP9_ENST00000370167.4_Silent_p.P366P			Q99956	DUS9_HUMAN	dual specificity phosphatase 9	366	Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTCCAACCCGCCCTCCTTCT	0.716																																						uc004fhx.3																			0				ovary(2)	2						c.(1096-1098)CCG>CCA		dual specificity phosphatase 9							46.0	43.0	44.0					X																	152915703		2203	4299	6502	SO:0001819	synonymous_variant	1852				inactivation of MAPK activity|JNK cascade	cytosol|endoplasmic reticulum|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chrX:152915703G>A	Y08302	CCDS14724.1	Xq28	2011-06-09			ENSG00000130829	ENSG00000130829		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3076	protein-coding gene	gene with protein product	"""map kinase phosphatase 4"""	300134				9030581, 9286695	Standard	NM_001395		Approved	MKP-4, MKP4	uc004fhx.4	Q99956	OTTHUMG00000024211	ENST00000342782.3:c.1098G>A	X.37:g.152915703G>A						DUSP9_uc004fhy.3_Silent_p.P366P	p.P366P	NM_001395	NP_001386	Q99956	DUS9_HUMAN			4	1302	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		366			Tyrosine-protein phosphatase.		D3DWU5	Silent	SNP	ENST00000342782.3	37	c.1098G>A	CCDS14724.1	.	.	.	.	.	.	.	.	.	.	g	5.798	0.331506	0.10956	.	.	ENSG00000130829	ENST00000433144	.	.	.	4.68	-7.87	0.01183	.	.	.	.	.	T	0.36110	0.0955	.	.	.	0.52099	D	0.999945	.	.	.	.	.	.	T	0.41142	-0.9525	4	.	.	.	.	3.3249	0.07063	0.3235:0.3901:0.1935:0.093	.	.	.	.	H	337	.	.	R	+	2	0	DUSP9	152568897	0.000000	0.05858	0.172000	0.22920	0.446000	0.32137	-2.859000	0.00727	-1.424000	0.01999	0.529000	0.55759	CGC		0.716	DUSP9-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061022.3	NM_001395	
