#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample
ATAD3A	55210	broad.mit.edu	37	1	1451459	1451459	+	Silent	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:1451459C>G	ENST00000378755.5	+	2	367	c.273C>G	c.(271-273)tcC>tcG	p.S91S	ATAD3A_ENST00000536055.1_Silent_p.S12S|ATAD3A_ENST00000378756.3_Silent_p.S91S	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	91					cell growth (GO:0016049)|negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		AGCAACAGTCCAAGCTCAAAG	0.632																																						uc001afz.1		NaN																	0				skin(1)	1						c.(271-273)TCC>TCG		ATPase family, AAA domain containing 3A							31.0	32.0	31.0					1																	1451459		2203	4296	6499	SO:0001819	synonymous_variant	55210						ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr1:1451459C>G	AK025865	CCDS31.1, CCDS53259.1, CCDS53260.1	1p36.33	2010-04-21		2007-02-08	ENSG00000197785	ENSG00000197785		"""ATPases / AAA-type"""	25567	protein-coding gene	gene with protein product		612316				12477932	Standard	NM_018188		Approved	FLJ10709	uc001afz.2	Q9NVI7	OTTHUMG00000000575	ENST00000378755.5:c.273C>G	1.37:g.1451459C>G						ATAD3A_uc001aga.1_Silent_p.S91S|ATAD3A_uc001agb.1_Silent_p.S12S	p.S91S	NM_018188	NP_060658	Q9NVI7	ATD3A_HUMAN		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)	2	367	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	91					B3KPB3|D2K8Q1|G3V1I6|Q5SV23|Q8N275|Q96A50	Silent	SNP	ENST00000378755.5	37	c.273C>G	CCDS31.1	.	.	.	.	.	.	.	.	.	.	c	1.314	-0.601412	0.03744	.	.	ENSG00000197785	ENST00000339113	.	.	.	3.46	0.799	0.18667	.	.	.	.	.	T	0.54303	0.1850	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47328	-0.9126	4	.	.	.	.	7.27	0.26252	0.2136:0.683:0.0:0.1034	.	.	.	.	E	77	.	.	Q	+	1	0	ATAD3A	1441322	0.956000	0.32656	1.000000	0.80357	0.384000	0.30261	0.042000	0.13949	0.524000	0.28502	0.195000	0.17529	CAA		0.632	ATAD3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000001365.1		NM_018188		13	26	0	0	0	0.00245	0	13	26		
ARHGEF16	27237	broad.mit.edu	37	1	3386012	3386012	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:3386012C>T	ENST00000378378.4	+	6	1282	c.877C>T	c.(877-879)Ctc>Ttc	p.L293F	ARHGEF16_ENST00000378371.2_Missense_Mutation_p.L5F|ARHGEF16_ENST00000378373.1_Missense_Mutation_p.L5F|ARHGEF16_ENST00000413250.2_5'Flank	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	293	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.|Required for RHOG activation and mediates interaction with EPHA2.				activation of Cdc42 GTPase activity (GO:0032864)|activation of Rac GTPase activity (GO:0032863)|apoptotic signaling pathway (GO:0097190)|cell chemotaxis (GO:0060326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	PDZ domain binding (GO:0030165)|receptor tyrosine kinase binding (GO:0030971)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GTTCGAGATCCTCACGTCGGA	0.627																																						uc001akg.3		NaN																	0				ovary(1)	1						c.(877-879)CTC>TTC		Rho guanine exchange factor 16							159.0	108.0	125.0					1																	3386012		2203	4300	6503	SO:0001583	missense	27237				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity	g.chr1:3386012C>T	D89016	CCDS46.2	1p36.3	2013-01-10	2010-04-13		ENSG00000130762	ENSG00000130762		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15515	protein-coding gene	gene with protein product	"""putative neuroblastoma protein"""						Standard	NM_014448		Approved	NBR, GEF16	uc001akg.4	Q5VV41	OTTHUMG00000000625	ENST00000378378.4:c.877C>T	1.37:g.3386012C>T	ENSP00000367629:p.Leu293Phe					ARHGEF16_uc001aki.2_Missense_Mutation_p.L5F|ARHGEF16_uc001akj.2_Missense_Mutation_p.L5F|ARHGEF16_uc009vli.1_5'Flank|ARHGEF16_uc010nzh.1_5'Flank	p.L293F	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)	6	1125	+	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)	293			DH.|Required for RHOG activation and mediates interaction with EPHA2.		Q86TF0|Q99434	Missense_Mutation	SNP	ENST00000378378.4	37	c.877C>T	CCDS46.2	.	.	.	.	.	.	.	.	.	.	C	13.85	2.359664	0.41801	.	.	ENSG00000130762	ENST00000378378;ENST00000378373;ENST00000378371;ENST00000445297	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	3.26	1.02	0.19986	Dbl homology (DH) domain (5);	0.197305	0.33854	N	0.004481	T	0.61426	0.2346	L	0.35542	1.07	0.80722	D	1	D	0.57571	0.98	D	0.63381	0.914	T	0.61013	-0.7148	10	0.87932	D	0	-24.6487	6.3456	0.21347	0.5461:0.3062:0.1477:0.0	.	293	Q5VV41	ARHGG_HUMAN	F	293;5;5;5	ENSP00000367629:L293F;ENSP00000367624:L5F;ENSP00000367622:L5F;ENSP00000411936:L5F	ENSP00000367622:L5F	L	+	1	0	ARHGEF16	3375872	1.000000	0.71417	0.988000	0.46212	0.498000	0.33706	3.643000	0.54374	0.670000	0.31165	0.313000	0.20887	CTC		0.627	ARHGEF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001515.1		NM_014448		23	41	0	0	0	0.004656	0	23	41		
AJAP1	55966	broad.mit.edu	37	1	4832502	4832502	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:4832502C>T	ENST00000378191.4	+	4	1461	c.1080C>T	c.(1078-1080)tgC>tgT	p.C360C	AJAP1_ENST00000378190.3_Silent_p.C360C	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	360	Targeting signals.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CTCACGAGTGCGTCAGGGCAT	0.592																																						uc001alm.1		NaN																	0				lung(1)	1						c.(1078-1080)TGC>TGT		adherens junction associated protein 1							74.0	65.0	68.0					1																	4832502		2203	4300	6503	SO:0001819	synonymous_variant	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4832502C>T	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"""transmembrane protein SHREW1"""	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.1080C>T	1.37:g.4832502C>T						AJAP1_uc001aln.2_Silent_p.C360C	p.C360C	NM_001042478	NP_001035943	Q9UKB5	AJAP1_HUMAN		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)	4	1461	+	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)	360			Targeting signals.|Cytoplasmic (Potential).		Q9Y229	Silent	SNP	ENST00000378191.4	37	c.1080C>T	CCDS54.1																																																																																				0.592	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3		NM_018836		9	32	0	0	0	0.006214	0	9	32		
CHD5	26038	broad.mit.edu	37	1	6189100	6189100	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:6189100C>T	ENST00000262450.3	-	23	3516	c.3417G>A	c.(3415-3417)caG>caA	p.Q1139Q	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CCTTCTTGTTCTGGCCGATGC	0.642																																						uc001amb.1		NaN																	0				central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12						c.(3415-3417)CAG>CAA		chromodomain helicase DNA binding protein 5							53.0	49.0	50.0					1																	6189100		2203	4300	6503	SO:0001819	synonymous_variant	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6189100C>T	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.3417G>A	1.37:g.6189100C>T						CHD5_uc001alz.1_5'UTR|CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_RNA	p.Q1139Q	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	23	3517	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	1139			Helicase C-terminal.		A8KAP8|A8MQ44|D3DSH9|O60740	Silent	SNP	ENST00000262450.3	37	c.3417G>A	CCDS57.1																																																																																				0.642	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2		NM_015557		18	26	0	0	0	0.008871	0	18	26		
UBE4B	10277	broad.mit.edu	37	1	10211454	10211454	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:10211454A>G	ENST00000253251.8	+	20	3213	c.2374A>G	c.(2374-2376)Aac>Gac	p.N792D	UBE4B_ENST00000343090.6_Missense_Mutation_p.N921D|UBE4B_ENST00000377157.3_Missense_Mutation_p.N676D					ubiquitination factor E4B											NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GATGTTGTGCAACCAGAACTA	0.458																																						uc001aqs.3		NaN																	0				ovary(2)|skin(2)	4						c.(2761-2763)AAC>GAC		ubiquitination factor E4B isoform 1							178.0	167.0	171.0					1																	10211454		2203	4300	6503	SO:0001583	missense	10277				apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	g.chr1:10211454A>G	AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"""U-box domain containing"""	12500	protein-coding gene	gene with protein product		613565	"""ubiquitination factor E4B (homologous to yeast UFD2)"", ""ubiquitination factor E4B (UFD2 homolog, yeast)"""			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.2374A>G	1.37:g.10211454A>G	ENSP00000253251:p.Asn792Asp					UBE4B_uc001aqr.3_Missense_Mutation_p.N792D|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Missense_Mutation_p.N376D|UBE4B_uc001aqt.1_Missense_Mutation_p.N261D	p.N921D	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)	21	3474	+		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	921						Missense_Mutation	SNP	ENST00000253251.8	37	c.2761A>G	CCDS110.1	.	.	.	.	.	.	.	.	.	.	A	19.37	3.814006	0.70912	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	T;T;T	0.46063	0.88;0.88;0.88	5.33	5.33	0.75918	Ubiquitin conjugation factor E4, core (1);	0.043276	0.85682	D	0.000000	T	0.39384	0.1076	L	0.42245	1.32	0.52501	D	0.999957	B;B;B	0.32010	0.183;0.351;0.152	B;B;B	0.33690	0.061;0.168;0.036	T	0.30475	-0.9977	10	0.51188	T	0.08	-19.2555	15.3063	0.73995	1.0:0.0:0.0:0.0	.	792;921;792	A8K8S9;O95155;O95155-2	.;UBE4B_HUMAN;.	D	792;676;921	ENSP00000253251:N792D;ENSP00000366362:N676D;ENSP00000343001:N921D	ENSP00000253251:N792D	N	+	1	0	UBE4B	10134041	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.335000	0.96500	2.020000	0.59435	0.377000	0.23210	AAC		0.458	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1		NM_006048		14	99	0	0	0	0.00245	0	14	99		
MASP2	10747	broad.mit.edu	37	1	11097835	11097835	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:11097835T>G	ENST00000400897.3	-	7	938	c.923A>C	c.(922-924)aAt>aCt	p.N308T		NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	308	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|complement component C4b binding (GO:0001855)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		AACGTGGCCATTAGGTGGCGC	0.502											OREG0013096	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(35;611 746 20780 22741 36496)	uc001aru.2		NaN																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(922-924)AAT>ACT		mannan-binding lectin serine protease 2 isoform							136.0	131.0	133.0					1																	11097835		2203	4300	6503	SO:0001583	missense	10747				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity	g.chr1:11097835T>G	X98400	CCDS123.1, CCDS124.1	1p36.3-p36.2	2014-09-17	2005-08-17		ENSG00000009724	ENSG00000009724			6902	protein-coding gene	gene with protein product		605102	"""mannan-binding lectin serine protease 2"", ""mannan-binding lectin serine peptidase 1 pseudogene 1"", ""mannan-binding lectin serine protease 1 pseudogene 1"""	MASP1P1		9087411, 9777418	Standard	NM_006610		Approved		uc001aru.3	O00187	OTTHUMG00000002121	ENST00000400897.3:c.923A>C	1.37:g.11097835T>G	ENSP00000383690:p.Asn308Thr		OREG0013096	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	669		p.N308T	NM_006610	NP_006601	O00187	MASP2_HUMAN	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	7	944	-	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	308			Sushi 1.		A8K458|A8MWJ2|O75754|Q5TEQ5|Q5TER0|Q96QG4|Q9BZH0|Q9H498|Q9H499|Q9UBP3|Q9UC48|Q9ULC7|Q9UMV3|Q9Y270	Missense_Mutation	SNP	ENST00000400897.3	37	c.923A>C	CCDS123.1	.	.	.	.	.	.	.	.	.	.	T	17.10	3.303695	0.60305	.	.	ENSG00000009724	ENST00000400897	T	0.80909	-1.43	4.6	4.6	0.57074	Complement control module (2);Sushi/SCR/CCP (3);	0.299003	0.30901	N	0.008648	D	0.86674	0.5989	M	0.91038	3.17	0.80722	D	1	P	0.40794	0.729	P	0.45881	0.496	D	0.88622	0.3163	10	0.59425	D	0.04	.	12.234	0.54505	0.0:0.0:0.0:1.0	.	308	O00187	MASP2_HUMAN	T	308	ENSP00000383690:N308T	ENSP00000383690:N308T	N	-	2	0	MASP2	11020422	1.000000	0.71417	0.908000	0.35775	0.590000	0.36582	4.331000	0.59273	1.714000	0.51371	0.460000	0.39030	AAT		0.502	MASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006072.1		NM_006610		14	68	0	0	0	0.00245	0	14	68		
SPEN	23013	broad.mit.edu	37	1	16265833	16265833	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:16265833G>A	ENST00000375759.3	+	15	11110	c.10906G>A	c.(10906-10908)Gag>Aag	p.E3636K		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3636	SPOC. {ECO:0000255|PROSITE- ProRule:PRU00249}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|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;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGAGTTCTCTGAGAGTCACCT	0.582																																						uc001axk.1		NaN																	0				ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(10906-10908)GAG>AAG		spen homolog, transcriptional regulator							214.0	201.0	206.0					1																	16265833		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16265833G>A		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.10906G>A	1.37:g.16265833G>A	ENSP00000364912:p.Glu3636Lys					SPEN_uc010obp.1_Missense_Mutation_p.E3595K	p.E3636K	NM_015001	NP_055816	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	15	11110	+		Colorectal(325;0.000258)|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)	3636			SPOC.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.10906G>A	CCDS164.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.965423	0.53507	.	.	ENSG00000065526	ENST00000375759	T	0.08984	3.03	5.93	5.02	0.67125	Spen Paralogue and Orthologue SPOC, C-terminal-like (2);Spen paralogue/orthologue C-terminal, metazoa (1);	.	.	.	.	T	0.09379	0.0231	L	0.31294	0.92	0.58432	D	0.999996	B	0.31153	0.31	B	0.35550	0.205	T	0.23726	-1.0180	9	0.32370	T	0.25	-29.2407	16.5585	0.84512	0.0:0.0:0.8683:0.1317	.	3636	Q96T58	MINT_HUMAN	K	3636	ENSP00000364912:E3636K	ENSP00000364912:E3636K	E	+	1	0	SPEN	16138420	1.000000	0.71417	0.901000	0.35422	0.977000	0.68977	7.817000	0.86213	1.498000	0.48600	0.655000	0.94253	GAG		0.582	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1		NM_015001		75	156	0	0	0	0.01441	0	75	156		
SPEN	23013	broad.mit.edu	37	1	16265921	16265921	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:16265921G>A	ENST00000375759.3	+	15	11198	c.10994G>A	c.(10993-10995)tGa>tAa	p.*3665*		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	0					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|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;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GCCTCCGTGTGAGCCACTGAG	0.552																																						uc001axk.1		NaN																	0				ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(10993-10995)TGA>TAA		spen homolog, transcriptional regulator							178.0	170.0	173.0					1																	16265921		2203	4300	6503	SO:0001819	synonymous_variant	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16265921G>A		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.10994G>A	1.37:g.16265921G>A						SPEN_uc010obp.1_Silent_p.*3624*	p.*3665*	NM_015001	NP_055816	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	15	11198	+		Colorectal(325;0.000258)|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)	3665					Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	ENST00000375759.3	37	c.10994G>A	CCDS164.1																																																																																				0.552	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1		NM_015001		73	124	0	0	0	0.01441	0	73	124		
EPHA2	1969	broad.mit.edu	37	1	16464519	16464519	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:16464519C>T	ENST00000358432.5	-	5	1295	c.1141G>A	c.(1141-1143)Gcc>Acc	p.A381T		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	381	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	CGCACACTGGCCTCACACGGC	0.657																																						uc001aya.1		NaN																	0				lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10						c.(1141-1143)GCC>ACC		ephrin receptor EphA2 precursor	Dasatinib(DB01254)						52.0	46.0	48.0					1																	16464519		2203	4300	6503	SO:0001583	missense	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16464519C>T	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1141G>A	1.37:g.16464519C>T	ENSP00000351209:p.Ala381Thr					EPHA2_uc010oca.1_Missense_Mutation_p.A381T	p.A381T	NM_004431	NP_004422	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	5	1278	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	381			Extracellular (Potential).|Fibronectin type-III 1.		B5A968|Q8N3Z2	Missense_Mutation	SNP	ENST00000358432.5	37	c.1141G>A	CCDS169.1	.	.	.	.	.	.	.	.	.	.	C	8.661	0.900616	0.17686	.	.	ENSG00000142627	ENST00000358432	T	0.57907	0.37	4.97	1.88	0.25563	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.401757	0.21195	N	0.078562	T	0.38532	0.1044	L	0.31926	0.97	0.25068	N	0.991013	B;B	0.16603	0.018;0.001	B;B	0.17098	0.017;0.003	T	0.32666	-0.9898	10	0.51188	T	0.08	.	8.7571	0.34652	0.2865:0.5758:0.1377:0.0	.	381;381	B5A968;P29317	.;EPHA2_HUMAN	T	381	ENSP00000351209:A381T	ENSP00000351209:A381T	A	-	1	0	EPHA2	16337106	0.894000	0.30519	0.998000	0.56505	0.016000	0.09150	0.707000	0.25704	0.631000	0.30412	-1.367000	0.01198	GCC		0.657	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1		NM_004431		14	15	0	0	0	0.001855	0	14	15		
PADI1	29943	broad.mit.edu	37	1	17565174	17565174	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:17565174G>A	ENST00000375471.4	+	13	1614	c.1522G>A	c.(1522-1524)Gag>Aag	p.E508K	PADI1_ENST00000536552.1_5'UTR|PADI1_ENST00000413717.2_Missense_Mutation_p.E65K|PADI1_ENST00000537499.1_Missense_Mutation_p.E65K	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	508					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	GAAGAAAGAAGAGGGTTATGG	0.607																																					Esophageal Squamous(80;414 1257 4580 27746 50832)	uc001bah.1		NaN																	0					0						c.(1522-1524)GAG>AAG		peptidylarginine deiminase type I	L-Citrulline(DB00155)						40.0	39.0	39.0					1																	17565174		2203	4300	6503	SO:0001583	missense	29943				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17565174G>A	AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"""Peptidyl arginine deiminases"""	18367	protein-coding gene	gene with protein product	"""peptidylarginine deiminase type I"", ""protein-arginine deiminase type-1"", ""hPAD-colony 10"""	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.1522G>A	1.37:g.17565174G>A	ENSP00000364620:p.Glu508Lys					PADI1_uc010oco.1_Missense_Mutation_p.E65K|PADI1_uc010ocp.1_Missense_Mutation_p.E65K|PADI1_uc010ocq.1_5'UTR|PADI1_uc009vpb.1_5'Flank	p.E508K	NM_013358	NP_037490	Q9ULC6	PADI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	13	1614	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	508					A1L4K6|Q70SX6	Missense_Mutation	SNP	ENST00000375471.4	37	c.1522G>A	CCDS178.1	.	.	.	.	.	.	.	.	.	.	G	9.905	1.207990	0.22205	.	.	ENSG00000142623	ENST00000375471;ENST00000537499;ENST00000413717	T;T;T	0.24151	1.87;1.87;1.87	4.27	-0.157	0.13387	Protein-arginine deiminase, C-terminal (1);	0.720818	0.13705	N	0.368534	T	0.29028	0.0721	L	0.58428	1.81	0.48452	D	0.999651	B;B	0.21452	0.011;0.056	B;B	0.30105	0.024;0.111	T	0.19516	-1.0303	10	0.26408	T	0.33	-14.4981	16.8455	0.85979	0.0:0.6232:0.3768:0.0	.	65;508	B4DPX6;Q9ULC6	.;PADI1_HUMAN	K	508;65;65	ENSP00000364620:E508K;ENSP00000444032:E65K;ENSP00000396697:E65K	ENSP00000364620:E508K	E	+	1	0	PADI1	17437761	0.002000	0.14202	0.288000	0.24862	0.054000	0.15201	-0.113000	0.10774	-0.186000	0.10533	0.313000	0.20887	GAG		0.607	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006621.1		NM_013358		4	9	0	0	0	0.000602	0	4	9		
EIF4G3	8672	broad.mit.edu	37	1	21212781	21212781	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:21212781A>G	ENST00000264211.8	-	13	2363	c.2169T>C	c.(2167-2169)gaT>gaC	p.D723D	EIF4G3_ENST00000536266.1_Silent_p.D327D|EIF4G3_ENST00000602326.1_Silent_p.D729D|EIF4G3_ENST00000400422.1_Silent_p.D723D|EIF4G3_ENST00000374937.3_Silent_p.D729D|EIF4G3_ENST00000374935.3_Silent_p.D443D|EIF4G3_ENST00000537738.1_Silent_p.D213D	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	723	eIF3/EIF4A-binding. {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TCAGGTGTACATCTTCTTTTA	0.423																																						uc001bec.2		NaN																	0				skin(1)	1						c.(2167-2169)GAT>GAC		eukaryotic translation initiation factor 4							251.0	243.0	246.0					1																	21212781		2203	4300	6503	SO:0001819	synonymous_variant	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21212781A>G	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.2169T>C	1.37:g.21212781A>G						EIF4G3_uc010odi.1_Silent_p.D327D|EIF4G3_uc010odj.1_Silent_p.D722D|EIF4G3_uc009vpz.2_Silent_p.D443D|EIF4G3_uc001bed.2_Silent_p.D723D|EIF4G3_uc001bef.2_Silent_p.D759D|EIF4G3_uc001bee.2_Silent_p.D729D	p.D723D	NM_003760	NP_003751	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	14	2425	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	723			eIF3/EIF4A-binding (By similarity).		B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Silent	SNP	ENST00000264211.8	37	c.2169T>C	CCDS214.1																																																																																				0.423	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3		NM_003760		34	139	0	0	0	0.012213	0	34	139		
HNRNPR	10236	broad.mit.edu	37	1	23637803	23637803	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:23637803T>C	ENST00000374612.1	-	10	1303	c.1180A>G	c.(1180-1182)Atg>Gtg	p.M394V	HNRNPR_ENST00000606561.1_Missense_Mutation_p.M255V|HNRNPR_ENST00000476660.1_5'UTR|HNRNPR_ENST00000426846.2_Missense_Mutation_p.M234V|HNRNPR_ENST00000302271.6_Missense_Mutation_p.M394V|HNRNPR_ENST00000478691.1_Missense_Mutation_p.M296V|HNRNPR_ENST00000374616.3_Missense_Mutation_p.M397V|HNRNPR_ENST00000427764.2_Missense_Mutation_p.M356V	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	394	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		TTGCCATTCATTTCATCCATA	0.328																																						uc001bgr.3		NaN																	0				upper_aerodigestive_tract(1)|skin(1)	2						c.(1180-1182)ATG>GTG		heterogeneous nuclear ribonucleoprotein R							56.0	50.0	52.0					1																	23637803		2203	4300	6503	SO:0001583	missense	10236					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr1:23637803T>C	AF000364	CCDS232.1, CCDS44085.1, CCDS60020.1, CCDS72726.1, CCDS72727.1	1p36.12	2013-02-12		2007-08-16	ENSG00000125944	ENSG00000125944		"""RNA binding motif (RRM) containing"""	5047	protein-coding gene	gene with protein product		607201		HNRPR		9421497	Standard	XM_005245711		Approved	hnRNP-R	uc001bgp.4	O43390	OTTHUMG00000003224	ENST00000374612.1:c.1180A>G	1.37:g.23637803T>C	ENSP00000363741:p.Met394Val					HNRNPR_uc001bgo.2_Missense_Mutation_p.M4V|HNRNPR_uc001bgp.3_Missense_Mutation_p.M397V|HNRNPR_uc009vqk.2_Missense_Mutation_p.M296V|HNRNPR_uc001bgs.3_Missense_Mutation_p.M293V|HNRNPR_uc010odw.1_Missense_Mutation_p.M356V|HNRNPR_uc010odx.1_Missense_Mutation_p.M234V|HNRNPR_uc009vql.2_Missense_Mutation_p.M255V	p.M394V	NM_005826	NP_005817	O43390	HNRPR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)	10	1339	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	394			RRM 3.		Q2L7G6|Q5TEH1|Q9BV64|S4R3J4	Missense_Mutation	SNP	ENST00000374612.1	37	c.1180A>G	CCDS232.1	.	.	.	.	.	.	.	.	.	.	T	9.701	1.154609	0.21371	.	.	ENSG00000125944	ENST00000374616;ENST00000374612;ENST00000302271;ENST00000427764;ENST00000426846	T;T;T;T;T	0.75821	-0.97;2.34;2.34;2.34;-0.97	5.9	5.9	0.94986	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.80502	0.4635	M	0.67569	2.06	0.58432	D	0.999998	B;P;B;P;B;P	0.38677	0.21;0.642;0.392;0.599;0.425;0.544	B;P;B;P;B;B	0.48334	0.262;0.574;0.374;0.574;0.342;0.439	T	0.82068	-0.0640	10	0.72032	D	0.01	-2.9804	15.1486	0.72677	0.0:0.0:0.0:1.0	.	234;356;255;374;394;397	E7ETM7;Q2L7G6;B4DT28;Q6MZS5;O43390;O43390-2	.;.;.;.;HNRPR_HUMAN;.	V	397;394;394;356;234	ENSP00000363745:M397V;ENSP00000363741:M394V;ENSP00000304405:M394V;ENSP00000392799:M356V;ENSP00000415042:M234V	ENSP00000304405:M394V	M	-	1	0	HNRNPR	23510390	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.947000	0.63583	2.256000	0.74724	0.528000	0.53228	ATG		0.328	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008889.1		NM_005826		3	23	0	0	0	0.004672	0	3	23		
MYOM3	127294	broad.mit.edu	37	1	24383902	24383902	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:24383902G>A	ENST00000374434.3	-	37	4428	c.4266C>T	c.(4264-4266)atC>atT	p.I1422I	RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000338909.5_Silent_p.I315I|MYOM3_ENST00000330966.7_Silent_p.I1425I	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	1422	Ig-like C2-type 4.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TGAACACACTGATGGTGACCT	0.562																																						uc001bin.3		NaN																	0				skin(2)|ovary(1)	3						c.(4264-4266)ATC>ATT		myomesin family, member 3							84.0	84.0	84.0					1																	24383902		2105	4216	6321	SO:0001819	synonymous_variant	127294							g.chr1:24383902G>A	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.4266C>T	1.37:g.24383902G>A						MYOM3_uc001bil.3_Silent_p.I315I|MYOM3_uc001bim.3_Silent_p.I1079I	p.I1422I	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	37	4429	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	1422			Ig-like C2-type 4.		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Silent	SNP	ENST00000374434.3	37	c.4266C>T	CCDS41281.1																																																																																				0.562	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2		NM_152372		13	41	0	0	0	0.013537	0	13	41		
AHDC1	27245	broad.mit.edu	37	1	27874267	27874267	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:27874267G>A	ENST00000247087.5	-	5	4956	c.4360C>T	c.(4360-4362)Ccc>Tcc	p.P1454S	AHDC1_ENST00000374011.2_Missense_Mutation_p.P1454S			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1454							DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TCGTAGTGGGGCTGGCCCAGC	0.692																																						uc009vsy.2		NaN																	0				central_nervous_system(1)	1						c.(4360-4362)CCC>TCC		AT hook, DNA binding motif, containing 1							10.0	11.0	11.0					1																	27874267		2182	4284	6466	SO:0001583	missense	27245						DNA binding	g.chr1:27874267G>A	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.4360C>T	1.37:g.27874267G>A	ENSP00000247087:p.Pro1454Ser					AHDC1_uc009vsz.1_Missense_Mutation_p.P1454S	p.P1454S	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	6	5329	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1454					Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	ENST00000247087.5	37	c.4360C>T	CCDS30652.1	.	.	.	.	.	.	.	.	.	.	G	9.310	1.055249	0.19907	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.44881	0.91;0.91	5.67	3.62	0.41486	.	0.325108	0.29335	N	0.012460	T	0.31231	0.0790	N	0.19112	0.55	0.28145	N	0.929631	B	0.18166	0.026	B	0.18871	0.023	T	0.27571	-1.0070	10	0.66056	D	0.02	-7.0273	15.7324	0.77817	0.0:0.1028:0.7823:0.1148	.	1454	Q5TGY3	AHDC1_HUMAN	S	1454	ENSP00000247087:P1454S;ENSP00000363123:P1454S	ENSP00000247087:P1454S	P	-	1	0	AHDC1	27746854	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	2.211000	0.42825	0.778000	0.33520	-0.795000	0.03280	CCC		0.692	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3				5	13	0	0	0	0.001168	0	5	13		
THRAP3	9967	broad.mit.edu	37	1	36752825	36752825	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:36752825C>T	ENST00000354618.5	+	4	1218	c.994C>T	c.(994-996)Cag>Tag	p.Q332*	THRAP3_ENST00000469141.2_Nonsense_Mutation_p.Q332*	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	332	Ser-rich.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGGCTCATCTCAGAAGGAGGA	0.517			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)	uc001cae.3		NaN		Dom	yes		1	1p34.3	9967	T	thyroid hormone receptor associated protein 3 (TRAP150)			M	USP6		aneurysmal bone cysts		0				ovary(5)|lung(3)|breast(1)	9						c.(994-996)CAG>TAG		thyroid hormone receptor associated protein 3							46.0	46.0	46.0					1																	36752825		2203	4300	6503	SO:0001587	stop_gained	9967				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr1:36752825C>T	AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.994C>T	1.37:g.36752825C>T	ENSP00000346634:p.Gln332*					THRAP3_uc001caf.3_Nonsense_Mutation_p.Q332*|THRAP3_uc001cag.1_Nonsense_Mutation_p.Q332*	p.Q332*	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN			4	1218	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	332			Ser-rich.		D3DPS5|Q5VTK6	Nonsense_Mutation	SNP	ENST00000354618.5	37	c.994C>T	CCDS405.1	.	.	.	.	.	.	.	.	.	.	C	37	6.380120	0.97520	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	.	.	.	5.99	5.99	0.97316	.	0.079807	0.53938	D	0.000054	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	-16.6851	19.4659	0.94939	0.0:1.0:0.0:0.0	.	.	.	.	X	332	.	ENSP00000346634:Q332X	Q	+	1	0	THRAP3	36525412	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.312000	0.65792	2.840000	0.97914	0.655000	0.94253	CAG		0.517	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2		NM_005119		13	32	0	0	0	0.00245	0	13	32		
KIAA0754	643314	broad.mit.edu	37	1	39876750	39876750	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:39876750C>T	ENST00000530275.1	+	1	600	c.405C>T	c.(403-405)ttC>ttT	p.F135F	MACF1_ENST00000564288.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000372915.3_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	135										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGGGAGGCTTCAGTGAGAAGC	0.512											OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc009vvt.1		NaN																	0					0						c.(811-813)TTC>TTT		hypothetical protein LOC643314							33.0	33.0	33.0					1																	39876750		1971	4152	6123	SO:0001819	synonymous_variant	643314							g.chr1:39876750C>T			1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.405C>T	1.37:g.39876750C>T			OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	889	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron	p.F271F	NM_015038	NP_055853	O94854	K0754_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	1575	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	135					E9PMC2|Q6ZSB2	Silent	SNP	ENST00000530275.1	37	c.813C>T																																																																																					0.512	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1		NM_015038		7	12	0	0	0	0.001984	0	7	12		
SZT2	23334	broad.mit.edu	37	1	43909302	43909302	+	Missense_Mutation	SNP	G	G	A	rs141085666		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:43909302G>A	ENST00000562955.1	+	61	8489	c.8489G>A	c.(8488-8490)cGa>cAa	p.R2830Q	SZT2_ENST00000372442.1_Missense_Mutation_p.R1988Q	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2887					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TCTGGGAGCCGAGAGGCCCCC	0.602																																						uc001cjk.1		NaN																	0					0						c.(5962-5964)CGA>CAA		hypothetical protein LOC23334		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	78.0	81.0	80.0		8489	5.4	1.0	1	dbSNP_134	80	0,8600		0,0,4300	no	missense	SZT2	NM_015284.3	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	2830/3376	43909302	1,13005	2203	4300	6503	SO:0001583	missense	23334					peroxisome		g.chr1:43909302G>A	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.8489G>A	1.37:g.43909302G>A	ENSP00000457168:p.Arg2830Gln					KIAA0467_uc001cjl.1_5'Flank	p.R1988Q	NM_015284	NP_056099	Q5T011	SZT2_HUMAN			47	6425	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	2887					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.5963G>A	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	G	24.5	4.537212	0.85812	2.27E-4	0.0	ENSG00000198198	ENST00000372442	.	.	.	5.36	5.36	0.76844	.	0.129337	0.50627	D	0.000104	T	0.65863	0.2732	L	0.43152	1.355	0.31350	N	0.682651	D	0.89917	1.0	D	0.81914	0.995	T	0.68503	-0.5391	9	0.52906	T	0.07	.	16.6413	0.85127	0.0:0.0:1.0:0.0	.	2830	Q5T011-5	.	Q	1988	.	ENSP00000361519:R1988Q	R	+	2	0	SZT2	43681889	1.000000	0.71417	0.998000	0.56505	0.846000	0.48090	7.942000	0.87708	2.514000	0.84764	0.650000	0.86243	CGA		0.602	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3		NM_015284		19	68	0	0	0	0.008871	0	19	68		
SZT2	23334	broad.mit.edu	37	1	43913626	43913626	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:43913626G>A	ENST00000562955.1	+	67	9376	c.9376G>A	c.(9376-9378)Gag>Aag	p.E3126K	SZT2_ENST00000372442.1_Missense_Mutation_p.E2284K|SZT2-AS1_ENST00000396885.2_RNA	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	3183					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						AGGAGAGGCTGAGCGGCACGT	0.572																																						uc001cjk.1		NaN																	0					0						c.(6850-6852)GAG>AAG		hypothetical protein LOC23334							92.0	88.0	89.0					1																	43913626		2203	4300	6503	SO:0001583	missense	23334					peroxisome		g.chr1:43913626G>A	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.9376G>A	1.37:g.43913626G>A	ENSP00000457168:p.Glu3126Lys					KIAA0467_uc001cjl.1_Missense_Mutation_p.E272K	p.E2284K	NM_015284	NP_056099	Q5T011	SZT2_HUMAN			53	7312	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	3183					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.6850G>A	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.130550	0.77549	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.69	5.69	0.88448	.	0.046479	0.85682	D	0.000000	T	0.75413	0.3846	L	0.50333	1.59	0.40284	D	0.978435	D;D	0.69078	0.992;0.997	P;D	0.66196	0.874;0.942	T	0.77202	-0.2674	9	0.87932	D	0	.	19.8208	0.96592	0.0:0.0:1.0:0.0	.	3183;3126	Q5T011;Q5T011-5	SZT2_HUMAN;.	K	2284	.	ENSP00000361519:E2284K	E	+	1	0	SZT2	43686213	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	9.362000	0.97126	2.688000	0.91661	0.563000	0.77884	GAG		0.572	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3		NM_015284		38	49	0	0	0	0.004878	0	38	49		
KDM4A	9682	broad.mit.edu	37	1	44169946	44169946	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:44169946G>A	ENST00000372396.3	+	22	3234	c.3100G>A	c.(3100-3102)Gag>Aag	p.E1034K	KDM4A-AS1_ENST00000453015.1_RNA|KDM4A-AS1_ENST00000434346.1_RNA|KDM4A-AS1_ENST00000398804.3_RNA|KDM4A-AS1_ENST00000439057.1_RNA|KDM4A-AS1_ENST00000418149.1_RNA	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	1034					cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						CACAGAGAAAGAGGTTAAGCA	0.443																																						uc001cjx.2		NaN																	0				skin(1)	1						c.(3100-3102)GAG>AAG		jumonji domain containing 2A							142.0	148.0	146.0					1																	44169946		2203	4300	6503	SO:0001583	missense	9682				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr1:44169946G>A	AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	22978	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 3A"", ""tudor domain containing 14A"""	609764	"""jumonji domain containing 2"", ""jumonji domain containing 2A"""	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.3100G>A	1.37:g.44169946G>A	ENSP00000361473:p.Glu1034Lys					uc001cjy.2_Intron|ST3GAL3_uc009vwu.1_5'Flank|KDM4A_uc010oki.1_3'UTR	p.E1034K	NM_014663	NP_055478	O75164	KDM4A_HUMAN			22	3266	+			1034					Q5VVB1	Missense_Mutation	SNP	ENST00000372396.3	37	c.3100G>A	CCDS491.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.936697	0.73442	.	.	ENSG00000066135	ENST00000372396	T	0.75589	-0.95	5.86	5.86	0.93980	.	0.047193	0.85682	D	0.000000	T	0.72503	0.3468	L	0.39397	1.21	0.80722	D	1	P	0.52316	0.952	P	0.44518	0.452	T	0.74783	-0.3548	10	0.56958	D	0.05	-26.9959	20.1768	0.98178	0.0:0.0:1.0:0.0	.	1034	O75164	KDM4A_HUMAN	K	1034	ENSP00000361473:E1034K	ENSP00000361473:E1034K	E	+	1	0	KDM4A	43942533	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.449000	0.66619	2.766000	0.95052	0.655000	0.94253	GAG		0.443	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019960.1		NM_014663		48	93	0	0	0	0.01441	0	48	93		
PLK3	1263	broad.mit.edu	37	1	45268645	45268645	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:45268645G>A	ENST00000372201.4	+	7	1007	c.768G>A	c.(766-768)ggG>ggA	p.G256G	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	256	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic microtubule organization (GO:0031122)|endomitotic cell cycle (GO:0007113)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi disassembly (GO:0090166)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G1/S transition checkpoint (GO:0044819)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell division (GO:0051302)|regulation of cytokinesis (GO:0032465)|response to osmotic stress (GO:0006970)|response to radiation (GO:0009314)|response to reactive oxygen species (GO:0000302)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi stack (GO:0005795)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					TGCTCTGCGGGAGCCCTCCCT	0.622																																						uc001cmn.2		NaN																	0					0						c.(766-768)GGG>GGA		polo-like kinase 3							68.0	72.0	71.0					1																	45268645		2203	4300	6503	SO:0001819	synonymous_variant	1263					membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:45268645G>A	AJ293866	CCDS515.1	1p34.1	2013-01-18	2010-06-24	2004-01-28	ENSG00000173846	ENSG00000173846			2154	protein-coding gene	gene with protein product		602913	"""cytokine-inducible kinase"", ""polo-like kinase 3 (Drosophila)"""	CNK		8702627	Standard	NM_004073		Approved	FNK, PRK	uc001cmn.3	Q9H4B4	OTTHUMG00000008491	ENST00000372201.4:c.768G>A	1.37:g.45268645G>A						PLK3_uc001cmo.2_RNA	p.G256G	NM_004073	NP_004064	Q9H4B4	PLK3_HUMAN			7	868	+	Acute lymphoblastic leukemia(166;0.155)		256			Protein kinase.		Q15767|Q5JR99|Q96CV1	Silent	SNP	ENST00000372201.4	37	c.768G>A	CCDS515.1																																																																																				0.622	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023429.1		NM_004073		18	77	0	0	0	0.010504	0	18	77		
MKNK1	8569	broad.mit.edu	37	1	47024330	47024330	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:47024330G>A	ENST00000371946.4	-	14	1478	c.1315C>T	c.(1315-1317)Ccc>Tcc	p.P439S	MKNK1_ENST00000371945.4_Missense_Mutation_p.P398S|MKNK1-AS1_ENST00000602433.1_RNA|MKNK1_ENST00000371944.4_Missense_Mutation_p.P303S|MKNK1_ENST00000341183.5_3'UTR	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN	MAP kinase interacting serine/threonine kinase 1	439					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fibroblast growth factor receptor signaling pathway (GO:0008543)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|response to salt stress (GO:0009651)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					GACTTGCAGGGAGGGGAAAGC	0.622																																						uc001cqb.2		NaN																	0				lung(2)	2						c.(1315-1317)CCC>TCC		MAP kinase-interacting serine/threonine kinase 1							55.0	59.0	58.0					1																	47024330		2203	4300	6503	SO:0001583	missense	8569				intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:47024330G>A	AB000409	CCDS538.1, CCDS30705.1, CCDS44134.1	1p33	2008-02-05			ENSG00000079277	ENSG00000079277			7110	protein-coding gene	gene with protein product		606724				9155018	Standard	NM_003684		Approved	MNK1	uc001cqb.4	Q9BUB5	OTTHUMG00000007983	ENST00000371946.4:c.1315C>T	1.37:g.47024330G>A	ENSP00000361014:p.Pro439Ser					MKNK1_uc010omd.1_Missense_Mutation_p.P303S|MKNK1_uc001cqc.2_Missense_Mutation_p.P398S|MKNK1_uc009vyi.2_3'UTR|MKNK1_uc010ome.1_3'UTR	p.P439S	NM_003684	NP_003675	Q9BUB5	MKNK1_HUMAN			14	1559	-	Acute lymphoblastic leukemia(166;0.155)		439					D3DQ20|D3DQ21|O00312|Q5TC06|Q5TC07|Q6V0N6	Missense_Mutation	SNP	ENST00000371946.4	37	c.1315C>T	CCDS538.1	.	.	.	.	.	.	.	.	.	.	G	32	5.150175	0.94645	.	.	ENSG00000079277	ENST00000371946;ENST00000371945;ENST00000371944	T;T;T	0.71341	-0.23;-0.56;0.06	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.84777	0.5547	M	0.81497	2.545	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.83569	0.0111	10	0.34782	T	0.22	.	18.3144	0.90215	0.0:0.0:1.0:0.0	.	303;398;439	Q7Z319;Q9BUB5-2;Q9BUB5	.;.;MKNK1_HUMAN	S	439;398;303	ENSP00000361014:P439S;ENSP00000361013:P398S;ENSP00000361012:P303S	ENSP00000361012:P303S	P	-	1	0	MKNK1	46796917	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	9.869000	0.99810	2.556000	0.86216	0.561000	0.74099	CCC		0.622	MKNK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021897.2		NM_003684		5	37	0	0	0	0.001984	0	5	37		
PCSK9	255738	broad.mit.edu	37	1	55523773	55523773	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:55523773G>A	ENST00000302118.5	+	8	1535	c.1245G>A	c.(1243-1245)ctG>ctA	p.L415L	PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_Silent_p.L215L	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	415	Peptidase S8.				apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						GGCAGAGACTGATCCACTTCT	0.617																																					Pancreas(137;1454 1827 5886 22361 42375)	uc001cyf.1		NaN																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1243-1245)CTG>CTA		proprotein convertase subtilisin/kexin type 9							73.0	67.0	69.0					1																	55523773		2203	4300	6503	SO:0001819	synonymous_variant	255738				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	g.chr1:55523773G>A	AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"""hypercholesterolemia, autosomal dominant 3"""	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	ENST00000302118.5:c.1245G>A	1.37:g.55523773G>A						PCSK9_uc010oom.1_RNA	p.L415L	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN			8	1536	+			415			Peptidase S8.		A8T640|C0JYY9|Q5PSM5|Q5SZQ2	Silent	SNP	ENST00000302118.5	37	c.1245G>A	CCDS603.1																																																																																				0.617	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022280.1		NM_174936		27	41	0	0	0	0.005443	0	27	41		
USP24	23358	broad.mit.edu	37	1	55566515	55566515	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:55566515C>T	ENST00000294383.6	-	44	5267	c.5268G>A	c.(5266-5268)tgG>tgA	p.W1756*	USP24_ENST00000407756.1_Nonsense_Mutation_p.W1596*	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1756	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						GAAATACCTTCCAAAAATTCT	0.338																																						uc001cyg.3		NaN																	0				ovary(6)|kidney(6)|breast(1)	13						c.(4786-4788)TGG>TGA		ubiquitin specific protease 24							72.0	67.0	69.0					1																	55566515		1840	4083	5923	SO:0001587	stop_gained	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55566515C>T	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.5268G>A	1.37:g.55566515C>T	ENSP00000294383:p.Trp1756*						p.W1596*	NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN			41	4788	-			1756					Q6ZSY2|Q8N2Y4|Q9NXD1	Nonsense_Mutation	SNP	ENST00000294383.6	37	c.4788G>A	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	C	44	11.012978	0.99503	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.7964	0.96487	0.0:1.0:0.0:0.0	.	.	.	.	X	1756;1596	.	ENSP00000294383:W1756X	W	-	3	0	USP24	55339103	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.487000	0.81328	2.683000	0.91414	0.555000	0.69702	TGG		0.338	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2				7	19	0	0	0	0.001984	0	7	19		
PRKAA2	5563	broad.mit.edu	37	1	57161760	57161760	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:57161760G>A	ENST00000371244.4	+	6	782	c.716G>A	c.(715-717)cGt>cAt	p.R239H		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	239	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	TATCTCAATCGTTCTGTCGCC	0.433																																						uc001cyk.3		NaN																	0				breast(4)|ovary(1)|stomach(1)	6						c.(715-717)CGT>CAT		AMP-activated protein kinase alpha 2 catalytic							244.0	244.0	244.0					1																	57161760		2203	4300	6503	SO:0001583	missense	5563				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding	g.chr1:57161760G>A	BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.716G>A	1.37:g.57161760G>A	ENSP00000360290:p.Arg239His						p.R239H	NM_006252	NP_006243	P54646	AAPK2_HUMAN			6	787	+			239			Protein kinase.		Q9H1E8|Q9UD43	Missense_Mutation	SNP	ENST00000371244.4	37	c.716G>A	CCDS605.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.931501	0.92389	.	.	ENSG00000162409	ENST00000371244	T	0.66280	-0.2	5.98	5.06	0.68205	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.57592	0.2064	L	0.28344	0.845	0.80722	D	1	D	0.60160	0.987	P	0.48704	0.587	T	0.62263	-0.6891	10	0.56958	D	0.05	-20.4177	15.0825	0.72125	0.0679:0.0:0.9321:0.0	.	239	P54646	AAPK2_HUMAN	H	239	ENSP00000360290:R239H	ENSP00000360290:R239H	R	+	2	0	PRKAA2	56934348	1.000000	0.71417	0.992000	0.48379	0.990000	0.78478	3.186000	0.50942	1.527000	0.49086	0.655000	0.94253	CGT		0.433	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022753.2		NM_006252		116	132	0	0	0	0.01441	0	116	132		
PRKAA2	5563	broad.mit.edu	37	1	57169763	57169763	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:57169763C>T	ENST00000371244.4	+	7	974	c.908C>T	c.(907-909)aCa>aTa	p.T303I		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	303	AIS. {ECO:0000250}.				autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	TTTGAATGTACAGAATCAGAA	0.383																																						uc001cyk.3		NaN																	0				breast(4)|ovary(1)|stomach(1)	6						c.(907-909)ACA>ATA		AMP-activated protein kinase alpha 2 catalytic							176.0	170.0	172.0					1																	57169763		2203	4300	6503	SO:0001583	missense	5563				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding	g.chr1:57169763C>T	BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.908C>T	1.37:g.57169763C>T	ENSP00000360290:p.Thr303Ile						p.T303I	NM_006252	NP_006243	P54646	AAPK2_HUMAN			7	979	+			303					Q9H1E8|Q9UD43	Missense_Mutation	SNP	ENST00000371244.4	37	c.908C>T	CCDS605.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.463040	0.43736	.	.	ENSG00000162409	ENST00000371244	T	0.72725	-0.68	5.91	5.91	0.95273	.	0.088710	0.85682	D	0.000000	T	0.68860	0.3047	L	0.52573	1.65	0.58432	D	0.999997	B	0.24533	0.105	B	0.20184	0.028	T	0.63782	-0.6559	10	0.49607	T	0.09	-17.5437	20.2963	0.98556	0.0:1.0:0.0:0.0	.	303	P54646	AAPK2_HUMAN	I	303	ENSP00000360290:T303I	ENSP00000360290:T303I	T	+	2	0	PRKAA2	56942351	0.993000	0.37304	1.000000	0.80357	0.989000	0.77384	3.090000	0.50191	2.813000	0.96785	0.655000	0.94253	ACA		0.383	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022753.2		NM_006252		43	61	0	0	0	0.011902	0	43	61		
C8B	732	broad.mit.edu	37	1	57399040	57399040	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:57399040G>A	ENST00000371237.4	-	10	1586	c.1520C>T	c.(1519-1521)cCc>cTc	p.P507L	C8B_ENST00000535057.1_Missense_Mutation_p.P445L|C8B_ENST00000543257.1_Missense_Mutation_p.P455L	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	507	EGF-like.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TCCTTGGCAGGGAGCACAGTG	0.552																																						uc001cyp.2		NaN																	0				central_nervous_system(2)|large_intestine(1)|ovary(1)	4						c.(1519-1521)CCC>CTC		complement component 8, beta polypeptide							92.0	80.0	84.0					1																	57399040		2203	4300	6503	SO:0001583	missense	732				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		g.chr1:57399040G>A	M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"""Complement system"""	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.1520C>T	1.37:g.57399040G>A	ENSP00000360281:p.Pro507Leu					C8B_uc010oon.1_Missense_Mutation_p.P445L|C8B_uc010ooo.1_Missense_Mutation_p.P455L	p.P507L	NM_000066	NP_000057	P07358	CO8B_HUMAN			10	1587	-			507			EGF-like.		A1L4K7	Missense_Mutation	SNP	ENST00000371237.4	37	c.1520C>T	CCDS30730.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.189068	0.78789	.	.	ENSG00000021852	ENST00000371237;ENST00000543257;ENST00000535057	T;T;T	0.34072	1.53;1.57;1.38	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.71143	0.3305	M	0.93720	3.45	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.78940	-0.2006	10	0.72032	D	0.01	-19.2805	18.9974	0.92818	0.0:0.0:1.0:0.0	.	455;445;507	F5H7G1;F5GY80;P07358	.;.;CO8B_HUMAN	L	507;455;445	ENSP00000360281:P507L;ENSP00000442548:P455L;ENSP00000440113:P445L	ENSP00000360281:P507L	P	-	2	0	C8B	57171628	1.000000	0.71417	0.999000	0.59377	0.630000	0.37929	8.090000	0.89526	2.802000	0.96397	0.650000	0.86243	CCC		0.552	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2				26	46	0	0	0	0.00632	0	26	46		
SAMD13	148418	broad.mit.edu	37	1	84791366	84791366	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:84791366A>G	ENST00000370671.3	+	3	219	c.160A>G	c.(160-162)Atg>Gtg	p.M54V	SAMD13_ENST00000370670.2_Missense_Mutation_p.M34V|SAMD13_ENST00000394834.3_Missense_Mutation_p.M34V|SAMD13_ENST00000370673.3_Missense_Mutation_p.M48V|SAMD13_ENST00000370669.1_Missense_Mutation_p.M34V|SAMD13_ENST00000370668.3_Missense_Mutation_p.M34V			Q5VXD3	SAM13_HUMAN	sterile alpha motif domain containing 13	54	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.									lung(4)	4				all cancers(265;0.00667)|Epithelial(280;0.0219)|OV - Ovarian serous cystadenocarcinoma(397;0.136)		CTGGGCCGTGATGGATGTCGT	0.488																																						uc001djr.2		NaN																	0					0						c.(142-144)ATG>GTG		sterile alpha motif domain containing 13 isoform							175.0	146.0	156.0					1																	84791366		2203	4300	6503	SO:0001583	missense	148418							g.chr1:84791366A>G		CCDS30760.1, CCDS44166.1	1p31.1	2013-01-10			ENSG00000203943	ENSG00000203943		"""Sterile alpha motif (SAM) domain containing"""	24582	protein-coding gene	gene with protein product							Standard	NM_001010971		Approved		uc001djr.3	Q5VXD3	OTTHUMG00000009859	ENST00000370671.3:c.160A>G	1.37:g.84791366A>G	ENSP00000359705:p.Met54Val					SAMD13_uc010orw.1_Missense_Mutation_p.M34V|SAMD13_uc010orx.1_Missense_Mutation_p.M34V	p.M48V	NM_001010971	NP_001010971	Q5VXD3	SAM13_HUMAN		all cancers(265;0.00667)|Epithelial(280;0.0219)|OV - Ovarian serous cystadenocarcinoma(397;0.136)	3	334	+			54			SAM.		B3KPW8|D3DT11|Q53AI4|Q5VXD2|Q5VXD4	Missense_Mutation	SNP	ENST00000370671.3	37	c.142A>G		.	.	.	.	.	.	.	.	.	.	A	11.31	1.601771	0.28534	.	.	ENSG00000203943	ENST00000370673;ENST00000370671;ENST00000394834;ENST00000370669;ENST00000370668;ENST00000370670;ENST00000454967	T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79	5.07	5.07	0.68467	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.473959	0.23937	N	0.043084	T	0.15696	0.0378	N	0.14661	0.345	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.08006	-1.0743	10	0.56958	D	0.05	-1.7419	8.5351	0.33357	0.9109:0.0:0.0891:0.0	.	54;48	Q5VXD3;Q5VXD3-2	SAM13_HUMAN;.	V	48;54;34;34;34;34;2	ENSP00000359707:M48V;ENSP00000359705:M54V;ENSP00000378311:M34V;ENSP00000359703:M34V;ENSP00000359702:M34V;ENSP00000359704:M34V	ENSP00000359702:M34V	M	+	1	0	SAMD13	84563954	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.564000	0.45931	1.901000	0.55032	0.460000	0.39030	ATG		0.488	SAMD13-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027243.1		NM_001010971		27	39	0	0	0	0.004656	0	27	39		
COL24A1	255631	broad.mit.edu	37	1	86591602	86591602	+	Silent	SNP	A	A	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:86591602A>C	ENST00000370571.2	-	3	783	c.417T>G	c.(415-417)ccT>ccG	p.P139P	COL24A1_ENST00000436319.1_Silent_p.P139P	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	139					extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CTAATTTTTTAGGTAGTAATT	0.353																																						uc001dlj.2		NaN																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(415-417)CCT>CCG		collagen, type XXIV, alpha 1 precursor							50.0	47.0	48.0					1																	86591602		1839	4087	5926	SO:0001819	synonymous_variant	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86591602A>C	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.417T>G	1.37:g.86591602A>C						COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Silent_p.P139P	p.P139P	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	3	459	-			139			TSP N-terminal.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Silent	SNP	ENST00000370571.2	37	c.417T>G	CCDS41353.1																																																																																				0.353	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4		NM_152890		22	18	0	0	0	0.00333	0	22	18		
CLCA4	22802	broad.mit.edu	37	1	87029431	87029431	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:87029431C>T	ENST00000370563.3	+	4	578	c.536C>T	c.(535-537)tCa>tTa	p.S179L	CLCA4_ENST00000263723.5_5'UTR	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	179	Metalloprotease domain. {ECO:0000250|UniProtKB:A8K7I4}.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		CGTGCTAAGTCAAAAAAAATC	0.403																																						uc009wcs.2		NaN																	0				ovary(2)	2						c.(535-537)TCA>TTA		chloride channel accessory 4							87.0	84.0	85.0					1																	87029431		1908	4149	6057	SO:0001583	missense	22802					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:87029431C>T	AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"""chloride channel, calcium activated, family member 4"", ""chloride channel regulator 4"""			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.536C>T	1.37:g.87029431C>T	ENSP00000359594:p.Ser179Leu					CLCA4_uc009wct.2_Intron|CLCA4_uc009wcu.2_Intron	p.S179L	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN		all cancers(265;0.0202)|Epithelial(280;0.0404)	4	580	+		Lung NSC(277;0.238)	179					A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Missense_Mutation	SNP	ENST00000370563.3	37	c.536C>T	CCDS41355.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.494304	0.26774	.	.	ENSG00000016602	ENST00000370563	T	0.12039	2.72	5.47	-0.139	0.13460	Chloride channel calcium-activated (1);	1.582560	0.04021	N	0.299776	T	0.06096	0.0158	M	0.78049	2.395	0.09310	N	0.999999	B	0.06786	0.001	B	0.12837	0.008	T	0.37798	-0.9690	10	0.34782	T	0.22	-0.2008	3.196	0.06634	0.4548:0.2499:0.2147:0.0806	.	179	Q14CN2	CLCA4_HUMAN	L	179	ENSP00000359594:S179L	ENSP00000359594:S179L	S	+	2	0	CLCA4	86802019	0.001000	0.12720	0.008000	0.14137	0.005000	0.04900	0.976000	0.29462	0.318000	0.23185	-0.175000	0.13238	TCA		0.403	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1		NM_012128		5	38	0	0	0	0.000602	0	5	38		
RBMXL1	494115	broad.mit.edu	37	1	89449393	89449393	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:89449393C>T	ENST00000321792.5	-	2	544	c.117G>A	c.(115-117)ttG>ttA	p.L39L	CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000399794.2_Silent_p.L39L|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000260508.4_Intron|RBMXL1_ENST00000413769.1_5'UTR	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	39	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										GGTCTTTTATCAAGAGTACTT	0.423											OREG0013593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc009wcx.2		NaN																	0					0						c.(115-117)TTG>TTA		RNA binding motif protein, X-linked-like 1							210.0	199.0	202.0					1																	89449393		2203	4300	6503	SO:0001819	synonymous_variant	494115						nucleotide binding|RNA binding	g.chr1:89449393C>T	BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"""RNA binding motif (RRM) containing"""	25073	protein-coding gene	gene with protein product	"""kynurenine aminotransferase III"""					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.117G>A	1.37:g.89449393C>T			OREG0013593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1267	CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc001dms.2_Silent_p.L39L	p.L39L	NM_001162536	NP_001156008	Q96E39	RBMXL_HUMAN			3	833	-			39			RRM.			Silent	SNP	ENST00000321792.5	37	c.117G>A	CCDS716.1																																																																																				0.423	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029403.3		NM_019610		34	124	0	0	0	0.013726	0	34	124		
GBP7	388646	broad.mit.edu	37	1	89615138	89615138	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:89615138G>A	ENST00000294671.2	-	7	1127	c.989C>T	c.(988-990)gCa>gTa	p.A330V		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	330						membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		GTGGTTGGCTGCCCTCTGCAC	0.577																																						uc001dna.2		NaN																	0				ovary(1)|skin(1)	2						c.(988-990)GCA>GTA		guanylate binding protein 4-like							107.0	95.0	99.0					1																	89615138		2203	4300	6503	SO:0001583	missense	388646					integral to membrane	GTP binding|GTPase activity	g.chr1:89615138G>A	AK096141	CCDS720.1	1p22.2	2008-02-05			ENSG00000213512	ENSG00000213512			29606	protein-coding gene	gene with protein product		612468					Standard	NM_207398		Approved	FLJ38822, GBP4L	uc001dna.2	Q8N8V2	OTTHUMG00000010659	ENST00000294671.2:c.989C>T	1.37:g.89615138G>A	ENSP00000294671:p.Ala330Val					GBP2_uc001dmy.1_RNA	p.A330V	NM_207398	NP_997281	Q8N8V2	GBP7_HUMAN		all cancers(265;0.00835)|Epithelial(280;0.0322)	7	1128	-		Lung NSC(277;0.0908)	330						Missense_Mutation	SNP	ENST00000294671.2	37	c.989C>T	CCDS720.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.015125	0.35511	.	.	ENSG00000213512	ENST00000294671	T	0.72505	-0.66	3.37	2.43	0.29744	Guanylate-binding protein, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.83718	0.5315	H	0.96633	3.855	0.30568	N	0.763761	D	0.89917	1.0	D	0.91635	0.999	T	0.80919	-0.1167	10	0.87932	D	0	.	10.0308	0.42099	0.0:0.2086:0.7914:0.0	.	330	Q8N8V2	GBP7_HUMAN	V	330	ENSP00000294671:A330V	ENSP00000294671:A330V	A	-	2	0	GBP7	89387726	1.000000	0.71417	0.985000	0.45067	0.123000	0.20343	4.754000	0.62191	0.591000	0.29711	0.390000	0.25778	GCA		0.577	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029401.1		NM_207398		48	43	0	0	0	0.01441	0	48	43		
GBP5	115362	broad.mit.edu	37	1	89734510	89734510	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:89734510G>A	ENST00000370459.3	-	3	347	c.220C>T	c.(220-222)Cac>Tac	p.H74Y	GBP5_ENST00000343435.5_Missense_Mutation_p.H74Y|RP4-620F22.2_ENST00000437128.1_RNA			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	74	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		CCCTTGGTGTGAGACTGCACC	0.488																																						uc001dnc.2		NaN																	0				ovary(1)	1						c.(220-222)CAC>TAC		guanylate-binding protein 5							100.0	90.0	93.0					1																	89734510		2203	4300	6503	SO:0001583	missense	115362					plasma membrane	GTP binding|GTPase activity	g.chr1:89734510G>A	AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.220C>T	1.37:g.89734510G>A	ENSP00000359488:p.His74Tyr					GBP5_uc001dnd.2_Missense_Mutation_p.H74Y|GBP5_uc001dne.1_Missense_Mutation_p.H74Y	p.H74Y	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN		all cancers(265;0.00784)|Epithelial(280;0.0286)	4	757	-			74					B2RCE1|Q86TM5	Missense_Mutation	SNP	ENST00000370459.3	37	c.220C>T	CCDS722.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.749607	0.69533	.	.	ENSG00000154451	ENST00000343435;ENST00000370459;ENST00000443807	T;T;T	0.61274	0.12;0.12;0.12	4.82	4.82	0.62117	Guanylate-binding protein, N-terminal (1);	0.118979	0.56097	D	0.000023	T	0.73313	0.3571	M	0.91459	3.21	0.29605	N	0.84741	D	0.89917	1.0	D	0.83275	0.996	T	0.71083	-0.4695	10	0.72032	D	0.01	-25.8597	10.8294	0.46652	0.0:0.0:0.8115:0.1885	.	74	Q96PP8	GBP5_HUMAN	Y	74	ENSP00000340396:H74Y;ENSP00000359488:H74Y;ENSP00000403010:H74Y	ENSP00000340396:H74Y	H	-	1	0	GBP5	89507098	0.997000	0.39634	1.000000	0.80357	0.740000	0.42216	2.051000	0.41307	2.689000	0.91719	0.556000	0.70494	CAC		0.488	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027700.1		NM_052942		18	46	0	0	0	0.008871	0	18	46		
CCDC18	343099	broad.mit.edu	37	1	93646363	93646363	+	Intron	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:93646363C>T	ENST00000343253.7	+	1	500				TMED5_ENST00000370280.1_5'Flank|TMED5_ENST00000370282.3_5'Flank|CCDC18_ENST00000401026.3_5'UTR|CCDC18_ENST00000338949.4_5'UTR|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000557479.1_Silent_p.V92V|TMED5_ENST00000479918.1_5'Flank			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18											breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		GGGAAAGGGTCAGAGGCTTCC	0.672																																						uc001dpq.2		NaN																	0				ovary(2)|breast(2)|pancreas(1)	5						c.(274-276)GTC>GTT		sarcoma antigen NY-SAR-41							24.0	32.0	30.0					1																	93646363		1980	4154	6134	SO:0001627	intron_variant	343099							g.chr1:93646363C>T			1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.-3+388C>T	1.37:g.93646363C>T						TMED5_uc001dpn.2_5'Flank|TMED5_uc001dpo.2_5'Flank|TMED5_uc001dpp.2_5'Flank	p.V92V	NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)	1	444	+		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)	Error:Variant_position_missing_in_Q5T9S5_after_alignment					Q6ZU17	Silent	SNP	ENST00000343253.7	37	c.276C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.801|7.801	0.713575|0.713575	0.15306|0.15306	.|.	.|.	ENSG00000122483|ENSG00000122483	ENST00000448243|ENST00000370276	.|.	.|.	.|.	4.92|4.92	4.01|4.01	0.46588|0.46588	.|.	.|.	.|.	.|.	.|.	.|T	.|0.36880	.|0.0983	.|.	.|.	.|.	0.33646|0.33646	D|D	0.6078|0.6078	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.27839	.|-1.0062	.|4	.|.	.|.	.|.	.|.	9.5195|9.5195	0.39126|0.39126	0.0:0.9038:0.0:0.0962|0.0:0.9038:0.0:0.0962	.|.	.|.	.|.	.|.	X|L	31|28	.|.	.|.	Q|S	+|+	1|2	0|0	CCDC18|CCDC18	93418951|93418951	0.068000|0.068000	0.21057|0.21057	0.024000|0.024000	0.17045|0.17045	0.003000|0.003000	0.03518|0.03518	1.688000|1.688000	0.37690|0.37690	1.432000|1.432000	0.47375|0.47375	0.561000|0.561000	0.74099|0.74099	CAG|TCA		0.672	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1		NM_206886		12	52	0	0	0	0.001855	0	12	52		
TRMT13	54482	broad.mit.edu	37	1	100598732	100598732	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:100598732C>G	ENST00000370141.2	+	1	14	c.8C>G	c.(7-9)aCc>aGc	p.T3S	TRMT13_ENST00000370143.1_Missense_Mutation_p.T3S|SASS6_ENST00000535161.1_5'Flank|SASS6_ENST00000462159.1_5'Flank|SASS6_ENST00000287482.5_5'Flank|TRMT13_ENST00000370139.1_5'Flank	NM_019083.2	NP_061956.2	Q9NUP7	TRM13_HUMAN	tRNA methyltransferase 13 homolog (S. cerevisiae)	3					tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										ATTATGGCGACCTCCGCGACG	0.552																																						uc001dsv.2		NaN																	0				ovary(1)	1						c.(7-9)ACC>AGC		coiled-coil domain containing 76							45.0	49.0	48.0					1																	100598732		2203	4300	6503	SO:0001583	missense	54482				tRNA processing		metal ion binding|methyltransferase activity	g.chr1:100598732C>G	BC075811	CCDS765.1	1p21.2	2012-06-07	2012-06-07	2012-06-07	ENSG00000122435	ENSG00000122435			25502	protein-coding gene	gene with protein product			"""coiled-coil domain containing 76"""	CCDC76		11799066	Standard	NM_019083		Approved	FLJ10287, FLJ11219	uc001dsv.3	Q9NUP7	OTTHUMG00000010841	ENST00000370141.2:c.8C>G	1.37:g.100598732C>G	ENSP00000359160:p.Thr3Ser					SASS6_uc001dsu.2_5'Flank|SASS6_uc009wdz.2_5'Flank|CCDC76_uc010ouf.1_RNA|CCDC76_uc009wea.2_Missense_Mutation_p.T3S	p.T3S	NM_019083	NP_061956	Q9NUP7	TRM13_HUMAN		Epithelial(280;0.0814)|all cancers(265;0.133)|COAD - Colon adenocarcinoma(174;0.146)|Lung(183;0.194)	1	27	+		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)	3					Q5VVL0|Q9NW65	Missense_Mutation	SNP	ENST00000370141.2	37	c.8C>G	CCDS765.1	.	.	.	.	.	.	.	.	.	.	C	8.970	0.972677	0.18736	.	.	ENSG00000122435	ENST00000370143;ENST00000370141	T;T	0.41758	0.99;1.0	4.93	4.01	0.46588	.	0.432303	0.25119	N	0.032990	T	0.12092	0.0294	N	0.22421	0.69	0.47441	D	0.999428	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.07829	-1.0752	10	0.12430	T	0.62	-1.63	11.9621	0.53015	0.1739:0.8261:0.0:0.0	.	3;3	B4DQS9;Q9NUP7	.;TRM13_HUMAN	S	3	ENSP00000359162:T3S;ENSP00000359160:T3S	ENSP00000359160:T3S	T	+	2	0	CCDC76	100371320	0.001000	0.12720	0.437000	0.26809	0.031000	0.12232	-0.001000	0.12947	1.278000	0.44430	0.650000	0.86243	ACC		0.552	TRMT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029919.1		NM_019083		20	30	0	0	0	0.003954	0	20	30		
SLC25A24	29957	broad.mit.edu	37	1	108742614	108742614	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:108742614C>T	ENST00000565488.1	-	1	366	c.147G>A	c.(145-147)agG>agA	p.R49R	RP11-483I13.5_ENST00000564063.1_RNA|SLC25A24_ENST00000569674.1_Silent_p.R49R	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	49	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				ATP transport (GO:0015867)|cellular response to calcium ion (GO:0071277)|cellular response to oxidative stress (GO:0034599)|mitochondrial transport (GO:0006839)|regulation of cell death (GO:0010941)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP transmembrane transporter activity (GO:0005347)|calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		TGCCCAGGTTCCTGAGCCCCT	0.721																																						uc001dvn.3		NaN																	0				ovary(1)	1						c.(145-147)AGG>AGA		solute carrier family 25 member 24 isoform 1							18.0	22.0	21.0					1																	108742614		2011	4145	6156	SO:0001819	synonymous_variant	29957				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	g.chr1:108742614C>T	AJ619961	CCDS786.1, CCDS41361.1	1p13.2	2013-05-22			ENSG00000085491	ENSG00000085491		"""Solute carriers"", ""EF-hand domain containing"""	20662	protein-coding gene	gene with protein product		608744				15123600	Standard	NM_013386		Approved	DKFZp586G0123, APC1	uc001dvn.5	Q6NUK1	OTTHUMG00000011013	ENST00000565488.1:c.147G>A	1.37:g.108742614C>T							p.R49R	NM_013386	NP_037518	Q6NUK1	SCMC1_HUMAN		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)	1	361	-		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)	49			EF-hand 1.|Mitochondrial intermembrane (Potential).		B7ZAI9|Q5T331|Q5T485|Q6PJJ9|Q705K4|Q9P129	Silent	SNP	ENST00000565488.1	37	c.147G>A	CCDS41361.1																																																																																				0.721	SLC25A24-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030280.2		NM_013386		8	25	0	0	0	0.008291	0	8	25		
AKNAD1	254268	broad.mit.edu	37	1	109380186	109380186	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:109380186A>T	ENST00000370001.3	-	7	1790	c.1522T>A	c.(1522-1524)Tca>Aca	p.S508T	AKNAD1_ENST00000369994.1_Missense_Mutation_p.S508T|AKNAD1_ENST00000357393.4_Missense_Mutation_p.S215T|AKNAD1_ENST00000369995.3_Missense_Mutation_p.S508T	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	508						cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TTTGAGAGTGAAGAGAAGGTG	0.393																																						uc001dwa.2		NaN																	0				ovary(3)	3						c.(1522-1524)TCA>ACA		hypothetical protein LOC254268							147.0	129.0	135.0					1																	109380186		2203	4300	6503	SO:0001583	missense	254268							g.chr1:109380186A>T	AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 62"""	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.1522T>A	1.37:g.109380186A>T	ENSP00000359018:p.Ser508Thr					AKNAD1_uc010ovb.1_Missense_Mutation_p.S215T|AKNAD1_uc001dwb.2_RNA	p.S508T	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN			7	1791	-			508					B9EK62|Q5T1N0|Q8N990|Q8NCN9	Missense_Mutation	SNP	ENST00000370001.3	37	c.1522T>A	CCDS791.2	.	.	.	.	.	.	.	.	.	.	A	11.02	1.516381	0.27123	.	.	ENSG00000162641	ENST00000370001;ENST00000357393;ENST00000369994;ENST00000369995	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	5.54	2.41	0.29592	.	0.709327	0.12722	N	0.444600	T	0.06508	0.0167	L	0.40543	1.245	0.09310	N	1	P;B	0.43477	0.808;0.41	B;B	0.42214	0.38;0.071	T	0.17592	-1.0364	10	0.09590	T	0.72	-0.2592	5.4478	0.16546	0.4346:0.0:0.5654:0.0	.	215;508	B4DET8;Q5T1N1	.;AKND1_HUMAN	T	508;215;508;508	ENSP00000359018:S508T;ENSP00000349968:S215T;ENSP00000359011:S508T;ENSP00000359012:S508T	ENSP00000349968:S215T	S	-	1	0	AKNAD1	109181709	0.993000	0.37304	0.033000	0.17914	0.561000	0.35649	1.359000	0.34113	0.525000	0.28522	0.460000	0.39030	TCA		0.393	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2		NM_152763		4	62	0	0	0	0.000602	0	4	62		
LAMTOR5	10542	broad.mit.edu	37	1	110950397	110950397	+	5'Flank	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:110950397G>A	ENST00000602318.1	-	0	0				LAMTOR5-AS1_ENST00000608602.1_RNA|LAMTOR5-AS1_ENST00000590413.1_RNA|LAMTOR5-AS1_ENST00000608486.1_RNA|LAMTOR5-AS1_ENST00000608253.1_RNA|LAMTOR5-AS1_ENST00000608067.1_RNA|LAMTOR5_ENST00000483260.1_5'Flank|LAMTOR5-AS1_ENST00000457535.1_RNA|LAMTOR5_ENST00000602858.1_5'Flank|LAMTOR5-AS1_ENST00000609244.1_RNA|LAMTOR5-AS1_ENST00000598454.1_RNA|LAMTOR5-AS1_ENST00000609709.1_RNA|LAMTOR5-AS1_ENST00000610148.1_RNA|LAMTOR5-AS1_ENST00000587691.1_RNA|LAMTOR5_ENST00000256644.4_Missense_Mutation_p.S31F|LAMTOR5-AS1_ENST00000590826.1_RNA|LAMTOR5-AS1_ENST00000609512.1_RNA|LAMTOR5_ENST00000474861.2_5'Flank|LAMTOR5-AS1_ENST00000608499.1_RNA			O43504	LTOR5_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 5						cellular response to amino acid stimulus (GO:0071230)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of GTPase activity (GO:0043547)|positive regulation of TOR signaling (GO:0032008)|protein localization to lysosome (GO:0061462)|regulation of cell size (GO:0008361)|response to virus (GO:0009615)|viral genome replication (GO:0019079)	cytosol (GO:0005829)|lysosome (GO:0005764)|Ragulator complex (GO:0071986)											TTCTTTACTGGAAAACATCAC	0.622																																						uc001dzr.2		NaN																	0				large_intestine(1)|ovary(1)|pancreas(1)	3						c.(91-93)TCC>TTC		hepatitis B virus x-interacting protein							69.0	60.0	63.0					1																	110950397		2203	4300	6503	SO:0001631	upstream_gene_variant	10542				anti-apoptosis|negative regulation of caspase activity|response to virus|viral genome replication	cytosol	protein binding	g.chr1:110950397G>A	AF029890	CCDS824.1	1p12	2012-09-24	2012-09-24	2012-09-24	ENSG00000134248	ENSG00000134248			17955	protein-coding gene	gene with protein product	"""HBx-interacting protein"", ""hepatitis B virus x-interacting protein (9.6kD)"""	608521	"""hepatitis B virus x interacting protein"""	HBXIP		9499022, 22980980	Standard	NM_006402		Approved	XIP, MGC71071	uc001dzr.3	O43504	OTTHUMG00000011568		1.37:g.110950397G>A	Exception_encountered						p.S31F	NM_006402	NP_006393	O43504	HBXIP_HUMAN		Lung(183;0.0237)|all cancers(265;0.0675)|Epithelial(280;0.0732)|Colorectal(144;0.102)|LUSC - Lung squamous cell carcinoma(189;0.134)	1	150	-		all_cancers(81;4.08e-06)|all_epithelial(167;4.38e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	Error:Variant_position_missing_in_O43504_after_alignment					Q6IBD8	Missense_Mutation	SNP	ENST00000602318.1	37	c.92C>T		.	.	.	.	.	.	.	.	.	.	G	12.24	1.877223	0.33162	.	.	ENSG00000134248	ENST00000256644	.	.	.	3.77	2.84	0.33178	.	2.557600	0.01746	N	0.029663	T	0.14098	0.0341	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.17228	-1.0376	5	.	.	.	4.8683	6.5497	0.22427	0.1351:0.0:0.8649:0.0	.	.	.	.	F	31	.	.	S	-	2	0	HBXIP	110751920	0.001000	0.12720	0.002000	0.10522	0.035000	0.12851	0.816000	0.27267	1.130000	0.42092	0.563000	0.77884	TCC		0.622	LAMTOR5-007	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467909.1		NM_006402		11	26	0	0	0	0.008291	0	11	26		
WDR77	79084	broad.mit.edu	37	1	111989760	111989760	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:111989760C>T	ENST00000235090.5	-	4	656	c.450G>A	c.(448-450)aaG>aaA	p.K150K	WDR77_ENST00000411751.2_Intron|Y_RNA_ENST00000363020.1_RNA|ATP5F1_ENST00000369722.3_5'Flank|WDR77_ENST00000497278.1_5'UTR|ATP5F1_ENST00000483994.1_5'Flank	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN	WD repeat domain 77	150					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA metabolic process (GO:0016070)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|methylosome (GO:0034709)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGTCCCAAACCTTGATGCTAA	0.398																																						uc001ebb.2		NaN																	0					0						c.(448-450)AAG>AAA		WD repeat domain 77							142.0	132.0	135.0					1																	111989760		2203	4300	6503	SO:0001819	synonymous_variant	79084				ncRNA metabolic process|spliceosomal snRNP assembly	cytosol|nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding	g.chr1:111989760C>T	BC016946	CCDS835.1	1p13.2	2013-01-09		2005-08-09	ENSG00000116455	ENSG00000116455		"""WD repeat domain containing"""	29652	protein-coding gene	gene with protein product		611734				11756452, 8619474	Standard	NM_024102		Approved	MEP50	uc001ebb.3	Q9BQA1	OTTHUMG00000011748	ENST00000235090.5:c.450G>A	1.37:g.111989760C>T						WDR77_uc010owd.1_RNA|WDR77_uc010owe.1_Intron|ATP5F1_uc009wgf.1_5'Flank|ATP5F1_uc001ebc.2_5'Flank|ATP5F1_uc001ebd.3_5'Flank	p.K150K	NM_024102	NP_077007	Q9BQA1	MEP50_HUMAN		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)	4	489	-		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)	150			WD 2.		B3KMW6|B4DP38|Q3LID2|Q53FU2|Q6JZZ5|Q96GK4|Q9BWY3	Silent	SNP	ENST00000235090.5	37	c.450G>A	CCDS835.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.320835	0.23994	.	.	ENSG00000116455	ENST00000449340	.	.	.	5.67	-1.53	0.08611	.	.	.	.	.	T	0.44850	0.1313	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50575	-0.8812	4	.	.	.	-5.0869	11.9584	0.52995	0.0:0.5029:0.0:0.4971	.	.	.	.	K	87	.	.	R	-	2	0	WDR77	111791283	0.989000	0.36119	0.992000	0.48379	0.972000	0.66771	0.114000	0.15520	-0.149000	0.11215	0.462000	0.41574	AGG		0.398	WDR77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032465.1		NM_024102		39	43	0	0	0	0.00874	0	39	43		
FAM212B	55924	broad.mit.edu	37	1	112281828	112281828	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:112281828G>A	ENST00000357260.5	-	1	218	c.37C>T	c.(37-39)Cgt>Tgt	p.R13C	RP4-773A18.4_ENST00000524935.1_RNA|FAM212B_ENST00000534365.1_Missense_Mutation_p.R13C|RP4-773A18.4_ENST00000430373.1_RNA|FAM212B_ENST00000444059.2_Intron	NM_019099.4	NP_061972.1	Q9NTI7	F212B_HUMAN	family with sequence similarity 212, member B	13										cervix(1)|endometrium(1)	2						TTGAGGCGACGGAGATAGCAG	0.672																																						uc001ebo.1		NaN																	0				ovary(2)	2						c.(37-39)CGT>TGT		hypothetical protein LOC55924 isoform 1							64.0	56.0	59.0					1																	112281828		2203	4300	6503	SO:0001583	missense	55924							g.chr1:112281828G>A	AK055667	CCDS841.1, CCDS44195.1	1p13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000197852	ENSG00000197852			28045	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 183"""	C1orf183			Standard	NM_019099		Approved	FLJ31105	uc001ebo.2	Q9NTI7	OTTHUMG00000011953	ENST00000357260.5:c.37C>T	1.37:g.112281828G>A	ENSP00000349805:p.Arg13Cys					C1orf183_uc001ebp.1_Intron|uc001ebq.1_5'Flank	p.R13C	NM_019099	NP_061972	Q9NTI7	CA183_HUMAN		Lung(183;0.0155)|Colorectal(144;0.0289)|all cancers(265;0.0592)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0852)|COAD - Colon adenocarcinoma(174;0.113)	1	195	-		all_cancers(81;7.29e-06)|all_epithelial(167;4.98e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.16e-05)	13					B3KP38|B4DF94|Q9NTI6	Missense_Mutation	SNP	ENST00000357260.5	37	c.37C>T	CCDS841.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907572	0.52333	.	.	ENSG00000197852	ENST00000357260;ENST00000534365;ENST00000527621	.	.	.	4.57	3.65	0.41850	.	0.474643	0.16719	N	0.202325	T	0.31606	0.0802	L	0.50333	1.59	0.80722	D	1	P	0.44195	0.828	B	0.39904	0.313	T	0.28170	-1.0052	9	0.87932	D	0	-21.1346	9.3916	0.38376	0.1033:0.0:0.8967:0.0	.	13	Q9NTI7	CA183_HUMAN	C	13	.	ENSP00000349805:R13C	R	-	1	0	C1orf183	112083351	1.000000	0.71417	0.997000	0.53966	0.010000	0.07245	2.709000	0.47160	1.214000	0.43395	-0.300000	0.09419	CGT		0.672	FAM212B-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033060.2		NM_019099		10	21	0	0	0	0.008291	0	10	21		
LRIG2	9860	broad.mit.edu	37	1	113638961	113638961	+	Silent	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:113638961T>C	ENST00000361127.5	+	8	1263	c.1065T>C	c.(1063-1065)ttT>ttC	p.F355F		NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	355					innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		ATGGTGTATTTAGATTTCTTT	0.353																																						uc001edf.1		NaN																	0				ovary(3)	3						c.(1063-1065)TTT>TTC		leucine-rich repeats and immunoglobulin-like							191.0	196.0	194.0					1																	113638961		2203	4300	6503	SO:0001819	synonymous_variant	9860					cytoplasm|integral to membrane|plasma membrane		g.chr1:113638961T>C	AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.1065T>C	1.37:g.113638961T>C						LRIG2_uc009wgn.1_Silent_p.F252F	p.F355F	NM_014813	NP_055628	O94898	LRIG2_HUMAN		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)	8	1263	+	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)	355			LRR 12.|Extracellular (Potential).		Q9NSN2	Silent	SNP	ENST00000361127.5	37	c.1065T>C	CCDS30808.1																																																																																				0.353	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2		NM_014813		32	51	0	0	0	0.003755	0	32	51		
NHLH2	4808	broad.mit.edu	37	1	116380930	116380930	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:116380930C>G	ENST00000369506.1	-	1	5608	c.64G>C	c.(64-66)Gag>Cag	p.E22Q	NHLH2_ENST00000320238.3_Missense_Mutation_p.E22Q			Q02577	HEN2_HUMAN	nescient helix loop helix 2	22					cell differentiation (GO:0030154)|central nervous system development (GO:0007417)|mating behavior (GO:0007617)|ovulation cycle (GO:0042698)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)			prostate(1)	1	Lung SC(450;0.184)	all_cancers(81;1.75e-06)|all_epithelial(167;1.16e-06)|all_lung(203;9.55e-06)|Lung NSC(69;5.83e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CCCAGGGACTCCGGATCCGAG	0.657																																						uc009wgz.2		NaN																	0					0						c.(64-66)GAG>CAG		nescient helix loop helix 2							13.0	15.0	14.0					1																	116380930		2179	4269	6448	SO:0001583	missense	4808				cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:116380930C>G		CCDS885.1	1p12-p11	2013-05-21			ENSG00000177551	ENSG00000177551		"""Basic helix-loop-helix proteins"""	7818	protein-coding gene	gene with protein product		162361		HEN2		1528853	Standard	NM_005599		Approved	NSCL2, bHLHa34	uc001efy.3	Q02577	OTTHUMG00000011969	ENST00000369506.1:c.64G>C	1.37:g.116380930C>G	ENSP00000358519:p.Glu22Gln					NHLH2_uc001efy.2_Missense_Mutation_p.E22Q	p.E22Q	NM_001111061	NP_001104531	Q02577	HEN2_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	2	569	-	Lung SC(450;0.184)	all_cancers(81;1.75e-06)|all_epithelial(167;1.16e-06)|all_lung(203;9.55e-06)|Lung NSC(69;5.83e-05)	22					Q5T1P6	Missense_Mutation	SNP	ENST00000369506.1	37	c.64G>C	CCDS885.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.951246	0.73787	.	.	ENSG00000177551	ENST00000320238;ENST00000369506;ENST00000429731	D;D	0.96774	-4.12;-4.12	4.31	4.31	0.51392	.	0.070631	0.56097	D	0.000035	D	0.88698	0.6507	N	0.08118	0	0.50171	D	0.999859	D	0.58620	0.983	P	0.45998	0.5	D	0.89350	0.3660	10	0.27082	T	0.32	-17.8485	16.7906	0.85589	0.0:1.0:0.0:0.0	.	22	Q02577	HEN2_HUMAN	Q	22	ENSP00000322087:E22Q;ENSP00000358519:E22Q	ENSP00000322087:E22Q	E	-	1	0	NHLH2	116182453	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	7.285000	0.78660	1.948000	0.56530	0.561000	0.74099	GAG		0.657	NHLH2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033090.1		NM_005599		4	11	0	0	0	0.009096	0	4	11		
CD101	9398	broad.mit.edu	37	1	117556087	117556087	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:117556087G>A	ENST00000256652.4	+	4	959	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	CD101_ENST00000369470.1_Missense_Mutation_p.E301K	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	301	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GAAACCCTTAGAACTGGTTTG	0.463																																						uc010oxb.1		NaN																	0				skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(901-903)GAA>AAA		immunoglobulin superfamily, member 2 precursor							127.0	131.0	130.0					1																	117556087		2203	4300	6503	SO:0001583	missense	9398				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr1:117556087G>A	Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5949	protein-coding gene	gene with protein product		604516	"""immunoglobulin superfamily, member 2"""	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.901G>A	1.37:g.117556087G>A	ENSP00000256652:p.Glu301Lys					CD101_uc009whd.2_Missense_Mutation_p.E301K|CD101_uc010oxc.1_Missense_Mutation_p.E301K|CD101_uc010oxd.1_Missense_Mutation_p.E239K	p.E301K	NM_004258	NP_004249	Q93033	IGSF2_HUMAN			4	959	+			301			Ig-like C2-type 3.|Extracellular (Potential).		Q15856	Missense_Mutation	SNP	ENST00000256652.4	37	c.901G>A	CCDS891.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.193460	0.78902	.	.	ENSG00000134256	ENST00000256652;ENST00000369470	T;T	0.02579	4.24;4.24	5.85	4.92	0.64577	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.224065	0.31909	N	0.006867	T	0.03959	0.0111	M	0.80746	2.51	0.26457	N	0.975509	P	0.52842	0.956	P	0.49799	0.622	T	0.28004	-1.0057	10	0.37606	T	0.19	-22.4644	11.4455	0.50120	0.0:0.2307:0.7693:0.0	.	301	Q93033	IGSF2_HUMAN	K	301	ENSP00000256652:E301K;ENSP00000358482:E301K	ENSP00000256652:E301K	E	+	1	0	CD101	117357610	0.885000	0.30320	0.955000	0.39395	0.959000	0.62525	2.111000	0.41883	2.773000	0.95371	0.655000	0.94253	GAA		0.463	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1		NM_004258		15	94	0	0	0	0.003163	0	15	94		
TTF2	8458	broad.mit.edu	37	1	117629135	117629135	+	Silent	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:117629135C>G	ENST00000369466.4	+	12	2195	c.2151C>G	c.(2149-2151)ctC>ctG	p.L717L		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	717	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)	p.L717L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		GTGCAAACCTCAATGTGGAGG	0.537																																						uc001egy.2		NaN																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2149-2151)CTC>CTG		transcription termination factor, RNA polymerase							60.0	53.0	55.0					1																	117629135		2203	4300	6503	SO:0001819	synonymous_variant	8458				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding	g.chr1:117629135C>G	AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 6"""	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.2151C>G	1.37:g.117629135C>G							p.L717L	NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)	12	2171	+	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)	717			Helicase ATP-binding.		A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Silent	SNP	ENST00000369466.4	37	c.2151C>G	CCDS892.1																																																																																				0.537	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033277.3				8	13	0	0	0	0.004482	0	8	13		
SF3B4	10262	broad.mit.edu	37	1	149897916	149897916	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:149897916G>A	ENST00000271628.8	-	4	1309	c.725C>T	c.(724-726)tCc>tTc	p.S242F	MTMR11_ENST00000492824.1_5'Flank	NM_005850.4	NP_005841.1	Q15427	SF3B4_HUMAN	splicing factor 3b, subunit 4, 49kDa	242					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)	17	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GGGTGGGAAGGAGCCAGGAGG	0.582																																						uc001etj.1		NaN																	0				ovary(1)	1						c.(724-726)TCC>TTC		splicing factor 3b, subunit 4							12.0	14.0	13.0					1																	149897916		2192	4277	6469	SO:0001583	missense	10262					nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr1:149897916G>A	L35013	CCDS72900.1	1q21.2	2013-02-12	2002-08-29		ENSG00000143368	ENSG00000143368		"""RNA binding motif (RRM) containing"""	10771	protein-coding gene	gene with protein product		605593	"""splicing factor 3b, subunit 4, 49kD"""			7958871	Standard	NM_005850		Approved	SAP49, SF3b49, Hsh49	uc001etk.2	Q15427	OTTHUMG00000012208	ENST00000271628.8:c.725C>T	1.37:g.149897916G>A	ENSP00000271628:p.Ser242Phe					SF3B4_uc001eti.1_Missense_Mutation_p.S6F|SF3B4_uc001etk.1_Missense_Mutation_p.S242F|SF3B4_uc009wll.1_Missense_Mutation_p.S242F	p.S242F	NM_005850	NP_005841	Q15427	SF3B4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		4	776	-	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		242					Q5SZ63	Missense_Mutation	SNP	ENST00000271628.8	37	c.725C>T	CCDS941.1	.	.	.	.	.	.	.	.	.	.	G	6.413	0.444261	0.12164	.	.	ENSG00000143368	ENST00000271628	T	0.23754	1.89	4.98	4.98	0.66077	.	0.443020	0.26753	N	0.022662	T	0.03564	0.0102	N	0.02539	-0.55	0.40396	D	0.979594	B;B	0.09022	0.002;0.0	B;B	0.06405	0.002;0.0	T	0.35176	-0.9799	10	0.10377	T	0.69	.	11.9898	0.53168	0.0:0.1747:0.8253:0.0	.	242;242	Q53FG6;Q15427	.;SF3B4_HUMAN	F	242	ENSP00000271628:S242F	ENSP00000271628:S242F	S	-	2	0	SF3B4	148164540	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.576000	0.74023	2.456000	0.83038	0.561000	0.74099	TCC		0.582	SF3B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033753.1		NM_005850		15	24	0	0	0	0.00499	0	15	24		
FAM63A	55793	broad.mit.edu	37	1	150972380	150972380	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:150972380T>C	ENST00000361936.5	-	7	1750	c.796A>G	c.(796-798)Atc>Gtc	p.I266V	FAM63A_ENST00000312210.5_Missense_Mutation_p.I124V|FAM63A_ENST00000361738.6_Missense_Mutation_p.I314V|FAM63A_ENST00000470877.1_5'UTR|FAM63A_ENST00000493834.2_Missense_Mutation_p.I171V	NM_018379.4	NP_060849	Q8N5J2	FA63A_HUMAN	family with sequence similarity 63, member A	266						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TTGCAGGTGATGATCCTCTCC	0.507																																						uc001ewf.2		NaN																	0				ovary(1)	1						c.(796-798)ATC>GTC		hypothetical protein LOC55793 isoform 1							177.0	126.0	143.0					1																	150972380		2203	4300	6503	SO:0001583	missense	55793						protein binding	g.chr1:150972380T>C	BC032321	CCDS976.1, CCDS30854.1, CCDS53361.1, CCDS55635.1	1q21.2	2008-02-05			ENSG00000143409	ENSG00000143409			25648	protein-coding gene	gene with protein product						10718198	Standard	NM_001040217		Approved	FLJ11280	uc010pcn.2	Q8N5J2	OTTHUMG00000035061	ENST00000361936.5:c.796A>G	1.37:g.150972380T>C	ENSP00000354814:p.Ile266Val					FAM63A_uc001ewc.2_Missense_Mutation_p.I124V|FAM63A_uc010pcm.1_Missense_Mutation_p.I171V|FAM63A_uc001ewd.2_Missense_Mutation_p.I124V|FAM63A_uc001ewe.2_Missense_Mutation_p.I100V|FAM63A_uc010pcn.1_Missense_Mutation_p.I314V|FAM63A_uc001ewg.2_Missense_Mutation_p.I266V	p.I266V	NM_018379	NP_001156731	Q8N5J2	FA63A_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		7	2480	-	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		266					B3KWP4|B3KWV8|B4DXF2|B4E1S4|D3DV09|J3KP53|Q5SZF0|Q9NUL9|Q9P2F7	Missense_Mutation	SNP	ENST00000361936.5	37	c.796A>G	CCDS976.1	.	.	.	.	.	.	.	.	.	.	T	19.48	3.836238	0.71373	.	.	ENSG00000143409	ENST00000312210;ENST00000361936;ENST00000361738;ENST00000493834	T;T;T;T	0.41758	1.04;1.0;0.99;1.02	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.28400	0.0702	N	0.25380	0.74	0.58432	D	0.99999	B;P	0.50710	0.328;0.938	B;P	0.58266	0.171;0.836	T	0.04855	-1.0922	10	0.12430	T	0.62	-18.3622	12.0193	0.53333	0.0:0.0:0.0:1.0	.	314;266	Q8N5J2-3;Q8N5J2	.;FA63A_HUMAN	V	124;266;314;171	ENSP00000310923:I124V;ENSP00000354814:I266V;ENSP00000354669:I314V;ENSP00000437174:I171V	ENSP00000310923:I124V	I	-	1	0	FAM63A	149239004	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.714000	0.84703	1.956000	0.56807	0.459000	0.35465	ATC		0.507	FAM63A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411753.1		NM_018379		20	59	0	0	0	0.010504	0	20	59		
TDRD10	126668	broad.mit.edu	37	1	154493838	154493838	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:154493838A>G	ENST00000368480.3	+	6	337	c.252A>G	c.(250-252)acA>acG	p.T84T	TDRD10_ENST00000368482.4_Silent_p.T84T			Q5VZ19	TDR10_HUMAN	tudor domain containing 10	84	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGAAAGTGACACTTGCAATCC	0.498																																						uc009wow.2		NaN																	0				ovary(1)	1						c.(250-252)ACA>ACG		tudor domain containing 10 isoform a							142.0	150.0	147.0					1																	154493838		2203	4300	6503	SO:0001819	synonymous_variant	126668						nucleotide binding|RNA binding	g.chr1:154493838A>G	AL713777	CCDS30878.2, CCDS41406.1	1q21.3	2013-02-12			ENSG00000163239	ENSG00000163239		"""Tudor domain containing"", ""RNA binding motif (RRM) containing"""	25316	protein-coding gene	gene with protein product						12975309	Standard	NM_182499		Approved	DKFZp434M202	uc009wow.3	Q5VZ19	OTTHUMG00000037264	ENST00000368480.3:c.252A>G	1.37:g.154493838A>G						TDRD10_uc001ffd.2_Silent_p.T84T|TDRD10_uc001ffe.2_Silent_p.T5T	p.T84T	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		6	1090	+	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		84			RRM.		A4FU09|B0QZ53|B4DXV4|Q3ZCP1|Q3ZCS7|Q5SXY7|Q6UXV2|Q8TCN3	Silent	SNP	ENST00000368480.3	37	c.252A>G	CCDS41406.1																																																																																				0.498	TDRD10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090700.2		NM_182499		48	127	0	0	0	0.01441	0	48	127		
FLAD1	80308	broad.mit.edu	37	1	154962650	154962650	+	Silent	SNP	T	T	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:154962650T>A	ENST00000292180.3	+	4	1603	c.1281T>A	c.(1279-1281)gtT>gtA	p.V427V	FLAD1_ENST00000315144.10_Silent_p.V330V|FLAD1_ENST00000368432.1_Silent_p.V330V|FLAD1_ENST00000368433.1_Silent_p.V427V|FLAD1_ENST00000368428.1_5'UTR|FLAD1_ENST00000295530.2_Missense_Mutation_p.F111Y|FLAD1_ENST00000405236.2_Missense_Mutation_p.F279Y	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	427	FAD synthase.				FAD biosynthetic process (GO:0006747)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|FMN adenylyltransferase activity (GO:0003919)			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TACCTGATGTTCCAAACCCCC	0.532																																						uc001fgf.1		NaN																	0				ovary(2)|skin(1)	3						c.(1279-1281)GTT>GTA		flavin adenine dinucleotide synthetase isoform							198.0	208.0	205.0					1																	154962650		2203	4300	6503	SO:0001819	synonymous_variant	80308				FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity	g.chr1:154962650T>A		CCDS1078.1, CCDS1079.1, CCDS53371.1, CCDS53372.1	1q22	2013-03-05	2013-03-05		ENSG00000160688	ENSG00000160688	2.7.7.2		24671	protein-coding gene	gene with protein product		610595	"""Fad1, flavin adenine dinucleotide synthetase, homolog (yeast)"", ""FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae)"", ""flavin adenine dinucleotide synthetase"""				Standard	NM_001184891		Approved	PP591, FAD1	uc001fgf.2	Q8NFF5	OTTHUMG00000037416	ENST00000292180.3:c.1281T>A	1.37:g.154962650T>A						FLAD1_uc001fgd.1_Silent_p.V427V|FLAD1_uc001fge.1_Silent_p.V330V|FLAD1_uc001fgg.1_Silent_p.V330V|FLAD1_uc001fgh.1_Missense_Mutation_p.F111Y	p.V427V	NM_025207	NP_079483	Q8NFF5	FAD1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		4	1635	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		427			FAD synthase.		Q8N5J1|Q8N686|Q8WU93|Q8WUJ4|Q96CR8|Q99764|Q9HBN6	Silent	SNP	ENST00000292180.3	37	c.1281T>A	CCDS1078.1	.	.	.	.	.	.	.	.	.	.	T	14.58	2.578385	0.45902	.	.	ENSG00000160688	ENST00000405236;ENST00000295530	.	.	.	5.55	-1.82	0.07857	.	.	.	.	.	T	0.08268	0.0206	.	.	.	0.09310	N	1	B	0.28178	0.202	B	0.29353	0.101	T	0.33137	-0.9880	7	0.45353	T	0.12	-2.362	2.3678	0.04323	0.1302:0.3768:0.1331:0.3599	.	111	Q5T191	.	Y	279;111	.	ENSP00000295530:F111Y	F	+	2	0	FLAD1	153229274	0.000000	0.05858	0.037000	0.18230	0.976000	0.68499	-0.213000	0.09305	-0.034000	0.13713	0.533000	0.62120	TTC		0.532	FLAD1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091089.1		NM_025207		106	209	0	0	0	0.01441	0	106	209		
KIRREL	55243	broad.mit.edu	37	1	158064160	158064161	+	Missense_Mutation	DNP	CG	CG	AA	rs148421111|rs562996454		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:158064160_158064161CG>AA	ENST00000359209.6	+	14	1844_1845	c.1777_1778CG>AA	c.(1777-1779)CGg>AAg	p.R593K	KIRREL_ENST00000360089.4_Missense_Mutation_p.R429K|KIRREL_ENST00000392272.2_Missense_Mutation_p.R490K|KIRREL_ENST00000368172.1_Missense_Mutation_p.R407K|KIRREL_ENST00000416935.2_Missense_Mutation_p.R493K|KIRREL_ENST00000368173.3_Missense_Mutation_p.R609K			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	593				DTREEYEMKDPTNGY -> ERPRIRGRLNTSYSD (in Ref. 1). {ECO:0000305}.	excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CATCGACACCCGGGAGGAGTAT	0.614																																						uc001frn.3		NaN																	0				ovary(1)	1						c.(1777-1779)CGG>AAG		kin of IRRE like precursor																																				SO:0001583	missense	55243					integral to membrane		g.chr1:158064160_158064161CG>AA	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	Exception_encountered	1.37:g.158064160_158064161delinsAA	ENSP00000352138:p.Arg593Lys					KIRREL_uc010pib.1_Missense_Mutation_p.R493K|KIRREL_uc009wsq.2_Missense_Mutation_p.R429K|KIRREL_uc001fro.3_Missense_Mutation_p.R407K|uc001frp.2_5'Flank	p.R593K	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN			14	2181_2182	+	all_hematologic(112;0.0378)		593	DTREEYEMKDPTNGY -> ERPRIRGRLNTSYSD (in Ref. 1).		Cytoplasmic (Potential).		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	DNP	ENST00000359209.6	37	c.1777_1778CG>AA	CCDS1172.2																																																																																				0.614	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3		NM_018240		4	19	0	0	0	0.004672	0	4	19		
OR10K1	391109	broad.mit.edu	37	1	158435526	158435526	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:158435526A>T	ENST00000289451.2	+	1	255	c.175A>T	c.(175-177)Atg>Ttg	p.M59L		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	59						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TCATACTCCCATGTACTTCTT	0.473																																						uc010pij.1		NaN																	0				ovary(1)	1						c.(175-177)ATG>TTG		olfactory receptor, family 10, subfamily K,							219.0	188.0	199.0					1																	158435526		2203	4300	6503	SO:0001583	missense	391109				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158435526A>T	AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285		"""GPCR / Class A : Olfactory receptors"""	14693	protein-coding gene	gene with protein product							Standard	NM_001004473		Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.175A>T	1.37:g.158435526A>T	ENSP00000289451:p.Met59Leu						p.M59L	NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN			1	175	+	all_hematologic(112;0.0378)		59			Helical; Name=2; (Potential).		Q6IFS2	Missense_Mutation	SNP	ENST00000289451.2	37	c.175A>T	CCDS30897.1	.	.	.	.	.	.	.	.	.	.	a	16.80	3.222571	0.58668	.	.	ENSG00000173285	ENST00000289451	T	0.08458	3.09	4.6	4.6	0.57074	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000074	T	0.23133	0.0559	M	0.91872	3.25	0.32786	N	0.50186	P	0.51147	0.942	P	0.62560	0.904	T	0.22591	-1.0212	10	0.87932	D	0	.	13.0983	0.59206	1.0:0.0:0.0:0.0	.	59	Q8NGX5	O10K1_HUMAN	L	59	ENSP00000289451:M59L	ENSP00000289451:M59L	M	+	1	0	OR10K1	156702150	1.000000	0.71417	1.000000	0.80357	0.400000	0.30750	6.743000	0.74848	1.911000	0.55334	0.455000	0.32223	ATG		0.473	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046367.1				43	131	0	0	0	0.013114	0	43	131		
FCRLB	127943	broad.mit.edu	37	1	161696644	161696644	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:161696644G>A	ENST00000367948.2	+	7	941	c.726G>A	c.(724-726)gcG>gcA	p.A242A	FCRLB_ENST00000336830.5_Missense_Mutation_p.G208S|FCRLB_ENST00000367945.1_Missense_Mutation_p.R187Q|FCRLB_ENST00000367944.3_Missense_Mutation_p.G201S|FCRLB_ENST00000495397.1_3'UTR|FCRLB_ENST00000367946.3_Missense_Mutation_p.R194Q|FCRLB_ENST00000392158.1_Silent_p.A242A			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	242					negative regulation of immune response (GO:0050777)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			ACAGCCGCGCGGTGCGCCGCT	0.706																																						uc001gbh.2		NaN																	0					0						c.(724-726)GCG>GCA		Fc receptor-like B							8.0	9.0	8.0					1																	161696644		2165	4244	6409	SO:0001819	synonymous_variant	127943					endoplasmic reticulum		g.chr1:161696644G>A	AY670683	CCDS30927.1, CCDS72962.1, CCDS72963.1, CCDS72964.1, CCDS72965.1	1q23.3	2013-01-11	2006-09-26	2006-09-26	ENSG00000162746	ENSG00000162746		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26431	protein-coding gene	gene with protein product		609251	"""Fc receptor-like and mucin-like 2"""	FCRLM2		15676285	Standard	NM_001288829		Approved	FLJ31052, FCRL2, FREB-2, FCRLY	uc001gbi.3	Q6BAA4	OTTHUMG00000133629	ENST00000367948.2:c.726G>A	1.37:g.161696644G>A						FCRLB_uc009wus.2_Silent_p.A242A|FCRLB_uc001gbj.2_Missense_Mutation_p.R194Q|FCRLB_uc001gbk.2_Missense_Mutation_p.G208S|FCRLB_uc001gbl.2_Missense_Mutation_p.R187Q|FCRLB_uc001gbm.2_Missense_Mutation_p.G201S|FCRLB_uc001gbi.2_Silent_p.A242A|FCRLB_uc001gbn.3_Missense_Mutation_p.G245S	p.A242A	NM_001002901	NP_001002901	Q6BAA4	FCRLB_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00634)		7	960	+	all_hematologic(112;0.0359)		242					A2A3J5|A2A3J7|Q5VXA6|Q6BAA0|Q6BAA1|Q6BAA2|Q6BAA3|Q8IXZ7	Silent	SNP	ENST00000367948.2	37	c.726G>A	CCDS30927.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.46|10.46	1.357625|1.357625	0.24598|0.24598	.|.	.|.	ENSG00000162746|ENSG00000162746	ENST00000336830;ENST00000367944|ENST00000367946;ENST00000367945	T;T|T;T	0.03152|0.01854	4.03;4.04|4.6;4.62	4.43|4.43	-8.85|-8.85	0.00799|0.00799	.|.	.|.	.|.	.|.	.|.	T|T	0.00524|0.00524	0.0017|0.0017	.|.	.|.	.|.	0.50813|0.50813	D|D	0.999894|0.999894	B;B;B|B;B	0.32893|0.06786	0.389;0.196;0.168|0.0;0.001	B;B;B|B;B	0.19946|0.04013	0.027;0.021;0.02|0.001;0.001	T|T	0.48175|0.48175	-0.9058|-0.9058	8|8	0.56958|0.40728	D|T	0.05|0.16	.|.	5.9039|5.9039	0.18982|0.18982	0.0873:0.1113:0.5025:0.2989|0.0873:0.1113:0.5025:0.2989	.|.	245;201;208|187;194	Q96DP6;Q6BAA4-3;Q6BAA4-2|Q6BAA4-5;Q6BAA4-4	.;.;.|.;.	S|Q	208;201|194;187	ENSP00000338598:G208S;ENSP00000356921:G201S|ENSP00000356923:R194Q;ENSP00000356922:R187Q	ENSP00000338598:G208S|ENSP00000356922:R187Q	G|R	+|+	1|2	0|0	FCRLB|FCRLB	159963268|159963268	0.000000|0.000000	0.05858|0.05858	0.004000|0.004000	0.12327|0.12327	0.146000|0.146000	0.21551|0.21551	-4.751000|-4.751000	0.00190|0.00190	-2.278000|-2.278000	0.00677|0.00677	-1.626000|-1.626000	0.00786|0.00786	GGT|CGG		0.706	FCRLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083585.1		NM_152378		4	5	0	0	0	0.000602	0	4	5		
ILDR2	387597	broad.mit.edu	37	1	166926077	166926077	+	Missense_Mutation	SNP	T	T	G	rs367682492		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:166926077T>G	ENST00000271417.3	-	3	447	c.392A>C	c.(391-393)cAa>cCa	p.Q131P	ILDR2_ENST00000525740.1_Missense_Mutation_p.Q131P|ILDR2_ENST00000526687.1_Missense_Mutation_p.Q131P|ILDR2_ENST00000469934.2_Missense_Mutation_p.Q131P|ILDR2_ENST00000528703.1_Missense_Mutation_p.Q131P|ILDR2_ENST00000529387.1_Missense_Mutation_p.Q131P|ILDR2_ENST00000529071.1_Missense_Mutation_p.Q131P	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	131	Ig-like V-type.				cell differentiation (GO:0030154)|homeostasis of number of cells within a tissue (GO:0048873)|insulin secretion (GO:0030073)|pancreas development (GO:0031016)|response to glucose (GO:0009749)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						CTTTCCAATTTGAAGATCTGC	0.448																																						uc001gdx.1		NaN																	0				ovary(1)	1						c.(391-393)CAA>CCA		immunoglobulin-like domain containing receptor							82.0	71.0	75.0					1																	166926077		2203	4300	6503	SO:0001583	missense	387597					integral to membrane		g.chr1:166926077T>G	AF503509	CCDS1256.1	1q24.1	2008-12-18	2008-12-18	2008-12-18	ENSG00000143195	ENSG00000143195			18131	protein-coding gene	gene with protein product	"""LISCH-like"""		"""chromosome 1 open reading frame 32"""	C1orf32			Standard	NM_199351		Approved		uc001gdx.2	Q71H61	OTTHUMG00000034320	ENST00000271417.3:c.392A>C	1.37:g.166926077T>G	ENSP00000271417:p.Gln131Pro						p.Q131P	NM_199351	NP_955383	Q71H61	ILDR2_HUMAN			3	448	-			131			Ig-like V-type.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000271417.3	37	c.392A>C	CCDS1256.1	.	.	.	.	.	.	.	.	.	.	T	15.63	2.889583	0.52014	.	.	ENSG00000143195	ENST00000271417;ENST00000525740;ENST00000529387;ENST00000469934;ENST00000529071;ENST00000526687;ENST00000528703	T;T;T;T;T;T;T	0.01647	4.71;4.71;4.71;4.71;4.71;4.71;4.71	5.76	5.76	0.90799	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.179769	0.48767	D	0.000166	T	0.01124	0.0037	L	0.44542	1.39	0.40695	D	0.982435	P	0.49961	0.93	B	0.38562	0.276	T	0.70817	-0.4769	10	0.39692	T	0.17	.	16.0843	0.81031	0.0:0.0:0.0:1.0	.	131	Q71H61	ILDR2_HUMAN	P	131	ENSP00000271417:Q131P;ENSP00000436120:Q131P;ENSP00000431316:Q131P;ENSP00000437008:Q131P;ENSP00000436882:Q131P;ENSP00000434273:Q131P;ENSP00000432750:Q131P	ENSP00000271417:Q131P	Q	-	2	0	ILDR2	165192701	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.770000	0.55310	2.191000	0.70037	0.533000	0.62120	CAA		0.448	ILDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082880.2		NM_199351		8	44	0	0	0	0.004482	0	8	44		
DNM3	26052	broad.mit.edu	37	1	172357752	172357752	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:172357752A>G	ENST00000355305.5	+	20	2500	c.2343A>G	c.(2341-2343)acA>acG	p.T781T	DNM3_ENST00000367731.1_Silent_p.T771T|DNM3_ENST00000358155.4_Silent_p.T775T			Q9UQ16	DYN3_HUMAN	dynamin 3	781					endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GGAGGCCAACACTAAGTGCTC	0.562																																						uc001gie.2		NaN																	0				breast(1)	1						c.(2323-2325)ACA>ACG		dynamin 3 isoform a							52.0	63.0	59.0					1																	172357752		1968	4146	6114	SO:0001819	synonymous_variant	26052				endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding	g.chr1:172357752A>G	AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"""Pleckstrin homology (PH) domain containing"""	29125	protein-coding gene	gene with protein product	"""Dyna III"""	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.2343A>G	1.37:g.172357752A>G						DNM3_uc001gif.2_Silent_p.T771T|DNM3_uc001gih.1_Silent_p.T131T	p.T775T	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN			20	2501	+			781					A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Silent	SNP	ENST00000355305.5	37	c.2325A>G																																																																																					0.562	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000084531.1		NM_015569		15	45	0	0	0	0.00499	0	15	45		
TDRD5	163589	broad.mit.edu	37	1	179621324	179621324	+	Missense_Mutation	SNP	C	C	T	rs563073215		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:179621324C>T	ENST00000367614.1	+	13	2511	c.2152C>T	c.(2152-2154)Cgt>Tgt	p.R718C	TDRD5_ENST00000444136.1_Missense_Mutation_p.R718C|TDRD5_ENST00000294848.8_Missense_Mutation_p.R718C	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	718					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GAGTGAGTTACGTATCTTGGT	0.353													C|||	1	0.000199681	0.0	0.0	5008	,	,		17666	0.001		0.0	False		,,,				2504	0.0					uc001gnf.1		NaN																	0				ovary(2)|skin(2)|central_nervous_system(1)	5						c.(2152-2154)CGT>TGT		tudor domain containing 5							84.0	81.0	82.0					1																	179621324		2203	4300	6503	SO:0001583	missense	163589				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	g.chr1:179621324C>T	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.2152C>T	1.37:g.179621324C>T	ENSP00000356586:p.Arg718Cys					TDRD5_uc010pnp.1_Missense_Mutation_p.R718C|TDRD5_uc001gnh.1_Missense_Mutation_p.R273C	p.R718C	NM_173533	NP_775804	Q8NAT2	TDRD5_HUMAN			13	2402	+			718					A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	ENST00000367614.1	37	c.2152C>T	CCDS1332.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.856281	0.32791	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136;ENST00000417329	T;T;T;T	0.30981	2.71;2.71;2.89;1.51	4.75	-2.45	0.06481	.	1.820450	0.03225	N	0.178189	T	0.16128	0.0388	N	0.08118	0	0.09310	N	1	B;B	0.32653	0.379;0.0	B;B	0.33890	0.172;0.0	T	0.22906	-1.0203	10	0.52906	T	0.07	.	4.876	0.13656	0.0:0.3369:0.2841:0.379	.	718;718	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	C	718;718;718;174	ENSP00000356586:R718C;ENSP00000294848:R718C;ENSP00000406052:R718C;ENSP00000410744:R174C	ENSP00000294848:R718C	R	+	1	0	TDRD5	177887947	0.000000	0.05858	0.000000	0.03702	0.435000	0.31806	-0.529000	0.06186	-0.075000	0.12798	-0.259000	0.10710	CGT		0.353	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1		NM_173533		12	25	0	0	0	0.013537	0	12	25		
RNF2	6045	broad.mit.edu	37	1	185056735	185056735	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:185056735G>A	ENST00000367510.3	+	2	338	c.50G>A	c.(49-51)tGg>tAg	p.W17*	RNF2_ENST00000367509.4_Nonsense_Mutation_p.W17*	NM_007212.3	NP_009143.1	Q99496	RING2_HUMAN	ring finger protein 2	17	Interaction with HIP2.				anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)		AGCAAAACATGGGAACTCAGT	0.388																																						uc001grc.1		NaN																	0				breast(1)	1						c.(49-51)TGG>TAG		ring finger protein 2							126.0	118.0	121.0					1																	185056735		2203	4300	6503	SO:0001587	stop_gained	6045				histone H2A monoubiquitination|transcription, DNA-dependent	MLL1 complex|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding	g.chr1:185056735G>A	BC012583, Y10571	CCDS1365.1	1q25.3	2013-01-09			ENSG00000121481	ENSG00000121481		"""RING-type (C3HC4) zinc fingers"""	10061	protein-coding gene	gene with protein product		608985				11513855	Standard	XM_005245413		Approved	BAP-1, BAP1, DING, HIPI3, RING1B, RING2	uc001grc.1	Q99496	OTTHUMG00000035391	ENST00000367510.3:c.50G>A	1.37:g.185056735G>A	ENSP00000356480:p.Trp17*					RNF2_uc001grd.1_Nonsense_Mutation_p.W17*	p.W17*	NM_007212	NP_009143	Q99496	RING2_HUMAN		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)	2	283	+		Breast(1374;0.000496)	17			Interaction with HIP2.		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Nonsense_Mutation	SNP	ENST00000367510.3	37	c.50G>A	CCDS1365.1	.	.	.	.	.	.	.	.	.	.	G	36	5.835530	0.97003	.	.	ENSG00000121481	ENST00000367510;ENST00000367509;ENST00000453650	.	.	.	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.04	17.9966	0.89185	0.0:0.0:1.0:0.0	.	.	.	.	X	17	.	ENSP00000356479:W17X	W	+	2	0	RNF2	183323358	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.046000	0.93817	2.319000	0.78375	0.591000	0.81541	TGG		0.388	RNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085793.1		NM_007212		26	66	0	0	0	0.010818	0	26	66		
IVNS1ABP	10625	broad.mit.edu	37	1	185276256	185276256	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:185276256C>T	ENST00000367498.3	-	7	1169	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_5'UTR	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	183	BACK.|Sufficient for AHR interaction and signaling.				negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription from RNA polymerase III promoter (GO:0006383)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|spliceosomal complex (GO:0005681)|transcription factor complex (GO:0005667)				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						ACATTATCTTCAAGCATTACC	0.413																																						uc001grl.2		NaN																	0				ovary(4)|central_nervous_system(1)	5						c.(547-549)GAA>AAA		influenza virus NS1A binding protein							88.0	81.0	83.0					1																	185276256		2203	4300	6503	SO:0001583	missense	10625				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex		g.chr1:185276256C>T	AB020657	CCDS1368.1	1q25.1-q31.1	2013-01-30			ENSG00000116679	ENSG00000116679		"""Kelch-like"", ""BTB/POZ domain containing"""	16951	protein-coding gene	gene with protein product	"""kelch-like family member 39"""	609209				9696811, 10048485	Standard	NM_006469		Approved	NS1-BP, HSPC068, NS-1, KIAA0850, ND1, KLHL39	uc001grl.3	Q9Y6Y0	OTTHUMG00000035384	ENST00000367498.3:c.547G>A	1.37:g.185276256C>T	ENSP00000356468:p.Glu183Lys					IVNS1ABP_uc001grj.2_5'Flank|IVNS1ABP_uc009wyj.2_5'UTR|IVNS1ABP_uc009wyk.2_RNA	p.E183K	NM_006469	NP_006460	Q9Y6Y0	NS1BP_HUMAN			7	1170	-			183			Sufficient for AHR interaction and signaling.|BACK.		A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	Missense_Mutation	SNP	ENST00000367498.3	37	c.547G>A	CCDS1368.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.801685	0.31869	.	.	ENSG00000116679	ENST00000367498;ENST00000422754	T;T	0.68479	-0.33;-0.33	6.02	5.11	0.69529	BTB/Kelch-associated (2);	0.089925	0.85682	D	0.000000	T	0.75184	0.3815	L	0.51422	1.61	0.80722	D	1	D	0.65815	0.995	P	0.61722	0.893	T	0.76471	-0.2947	10	0.51188	T	0.08	.	15.1921	0.73053	0.0:0.9328:0.0:0.0672	.	183	Q9Y6Y0	NS1BP_HUMAN	K	183;64	ENSP00000356468:E183K;ENSP00000401826:E64K	ENSP00000356468:E183K	E	-	1	0	IVNS1ABP	183542879	1.000000	0.71417	0.997000	0.53966	0.004000	0.04260	7.711000	0.84669	1.564000	0.49628	-0.218000	0.12543	GAA		0.413	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085774.1		NM_006469		14	29	0	0	0	0.00245	0	14	29		
HMCN1	83872	broad.mit.edu	37	1	185704134	185704134	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:185704134A>G	ENST00000271588.4	+	1	452	c.223A>G	c.(223-225)Aaa>Gaa	p.K75E	HMCN1_ENST00000367492.2_Missense_Mutation_p.K75E	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	75	VWFA.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAAAAGACCTAAAAGACCTCT	0.368																																						uc001grq.1		NaN																	0				ovary(22)|skin(1)	23						c.(223-225)AAA>GAA		hemicentin 1 precursor							107.0	110.0	109.0					1																	185704134		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185704134A>G	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.223A>G	1.37:g.185704134A>G	ENSP00000271588:p.Lys75Glu						p.K75E	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			1	452	+			75			VWFA.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.223A>G	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.393707	0.83011	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	D;D	0.97505	-4.41;-4.41	5.7	5.7	0.88788	von Willebrand factor, type A (1);	0.000000	0.64402	D	0.000002	D	0.91908	0.7438	N	0.00538	-1.39	0.54753	D	0.99998	D	0.58970	0.984	P	0.56612	0.802	D	0.92639	0.6123	10	0.20519	T	0.43	.	15.6322	0.76920	1.0:0.0:0.0:0.0	.	75	Q96RW7	HMCN1_HUMAN	E	75	ENSP00000271588:K75E;ENSP00000356462:K75E	ENSP00000271588:K75E	K	+	1	0	HMCN1	183970757	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.130000	0.77235	2.167000	0.68274	0.528000	0.53228	AAA		0.368	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1		NM_031935		26	44	0	0	0	0.00632	0	26	44		
KCNT2	343450	broad.mit.edu	37	1	196342326	196342326	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:196342326A>G	ENST00000294725.9	-	14	2262	c.1347T>C	c.(1345-1347)tgT>tgC	p.C449C	KCNT2_ENST00000367431.4_Silent_p.C449C|KCNT2_ENST00000451324.2_Silent_p.C60C|KCNT2_ENST00000367433.5_Silent_p.C449C|KCNT2_ENST00000609185.1_Silent_p.C449C|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	449	RCK N-terminal.				potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CTGGGCATATACAGTTTAAAG	0.294																																						uc001gtd.1		NaN																	0				ovary(5)|breast(1)|skin(1)	7						c.(1345-1347)TGT>TGC		potassium channel, subfamily T, member 2							92.0	93.0	93.0					1																	196342326		2203	4290	6493	SO:0001819	synonymous_variant	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196342326A>G	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.1347T>C	1.37:g.196342326A>G						KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Silent_p.C449C|KCNT2_uc001gtf.1_Silent_p.C449C|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Silent_p.C449C|KCNT2_uc009wyv.1_Silent_p.C424C	p.C449C	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN			14	1407	-			449			Cytoplasmic (Potential).|RCK N-terminal.		Q3SY59|Q5VTN1|Q6ZMT3	Silent	SNP	ENST00000294725.9	37	c.1347T>C	CCDS1384.1																																																																																				0.294	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2		NM_198503		22	45	0	0	0	0.003954	0	22	45		
ASPM	259266	broad.mit.edu	37	1	197111797	197111797	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:197111797C>G	ENST00000367409.4	-	3	1841	c.1585G>C	c.(1585-1587)Gaa>Caa	p.E529Q	ASPM_ENST00000294732.7_Missense_Mutation_p.E529Q	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	529					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ATTACTTTTTCATGTTCACCC	0.313																																						uc001gtu.2		NaN																	0				ovary(4)|central_nervous_system(2)	6						c.(1585-1587)GAA>CAA		asp (abnormal spindle)-like, microcephaly							141.0	148.0	146.0					1																	197111797		2203	4300	6503	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197111797C>G	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.1585G>C	1.37:g.197111797C>G	ENSP00000356379:p.Glu529Gln					ASPM_uc001gtv.2_Missense_Mutation_p.E529Q|ASPM_uc001gtw.3_Intron	p.E529Q	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			3	1842	-			529					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.1585G>C	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462139	0.43736	.	.	ENSG00000066279	ENST00000367409;ENST00000294732	T;T	0.58358	0.34;1.6	5.02	3.13	0.36017	.	0.648814	0.15234	N	0.273231	T	0.43122	0.1233	L	0.58101	1.795	0.09310	N	1	B;P	0.35363	0.244;0.497	B;B	0.27380	0.079;0.062	T	0.22103	-1.0226	10	0.35671	T	0.21	.	9.1814	0.37143	0.0:0.7728:0.0:0.2272	.	529;529	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	Q	529	ENSP00000356379:E529Q;ENSP00000294732:E529Q	ENSP00000294732:E529Q	E	-	1	0	ASPM	195378420	0.000000	0.05858	0.001000	0.08648	0.603000	0.37013	0.710000	0.25748	0.776000	0.33473	0.643000	0.83706	GAA		0.313	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1		NM_018136		31	95	0	0	0	0.009535	0	31	95		
NR5A2	2494	broad.mit.edu	37	1	200014630	200014630	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:200014630C>T	ENST00000367362.3	+	4	627	c.381C>T	c.(379-381)aaC>aaT	p.N127N	NR5A2_ENST00000236914.3_Silent_p.N81N|NR5A2_ENST00000544748.1_Silent_p.N55N	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	127					bile acid metabolic process (GO:0008206)|cholesterol homeostasis (GO:0042632)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|homeostatic process (GO:0042592)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral genome replication (GO:0045070)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					AAAACCAGAACTGCCAAATTG	0.328																																					Melanoma(179;1138 2773 15678 26136)	uc001gvb.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(379-381)AAC>AAT		nuclear receptor subfamily 5, group A, member 2							118.0	117.0	117.0					1																	200014630		2203	4300	6503	SO:0001819	synonymous_variant	2494				embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:200014630C>T	U93553	CCDS1400.1, CCDS1401.1, CCDS60383.1	1q32.11	2013-01-16			ENSG00000116833	ENSG00000116833		"""Nuclear hormone receptors"""	7984	protein-coding gene	gene with protein product	"""liver receptor homolog-1"""	604453		FTF		9858833, 7680097	Standard	NM_205860		Approved	FTZ-F1beta, hB1F, LRH-1, FTZ-F1, hB1F-2, B1F2	uc001gvb.4	O00482	OTTHUMG00000035635	ENST00000367362.3:c.381C>T	1.37:g.200014630C>T						NR5A2_uc001gvc.2_Silent_p.N81N|NR5A2_uc009wzh.2_Silent_p.N87N|NR5A2_uc010pph.1_Silent_p.N55N	p.N127N	NM_205860	NP_995582	O00482	NR5A2_HUMAN			4	587	+	Prostate(682;0.19)		127			Nuclear receptor.|NR C4-type.		B4E2P3|O95642|Q147U3	Silent	SNP	ENST00000367362.3	37	c.381C>T	CCDS1401.1	.	.	.	.	.	.	.	.	.	.	C	9.295	1.051539	0.19827	.	.	ENSG00000116833	ENST00000367357	.	.	.	5.5	3.6	0.41247	.	.	.	.	.	T	0.62171	0.2406	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58668	-0.7596	4	.	.	.	.	11.5517	0.50725	0.0:0.7991:0.0:0.2009	.	.	.	.	I	48	.	.	T	+	2	0	NR5A2	198281253	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.434000	0.44802	0.778000	0.33520	0.655000	0.94253	ACT		0.328	NR5A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086497.2				14	29	0	0	0	0.001855	0	14	29		
PPP1R15B	84919	broad.mit.edu	37	1	204379892	204379892	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:204379892G>A	ENST00000367188.4	-	1	1027	c.648C>T	c.(646-648)ttC>ttT	p.F216F	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	216					ER overload response (GO:0006983)|regulation of translation (GO:0006417)|response to hydrogen peroxide (GO:0042542)	protein phosphatase type 1 complex (GO:0000164)	protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			ATACCACACTGAAATTGTCTA	0.498																																						uc001hav.3		NaN																	0				ovary(1)|pancreas(1)	2						c.(646-648)TTC>TTT		protein phosphatase 1, regulatory subunit 15B							121.0	118.0	119.0					1																	204379892		2203	4300	6503	SO:0001819	synonymous_variant	84919				regulation of translation			g.chr1:204379892G>A	AK027650	CCDS1445.1	1q32.1	2012-04-17	2011-10-04		ENSG00000158615	ENSG00000158615		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14951	protein-coding gene	gene with protein product		613257	"""protein phosphatase 1, regulatory (inhibitor) subunit 15B"""			11948623	Standard	XM_005245551		Approved	FLJ14744	uc001hav.4	Q5SWA1	OTTHUMG00000036105	ENST00000367188.4:c.648C>T	1.37:g.204379892G>A							p.F216F	NM_032833	NP_116222	Q5SWA1	PR15B_HUMAN	all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)		1	1053	-	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		216					Q53GQ4|Q658M2|Q6P156|Q96SN1	Silent	SNP	ENST00000367188.4	37	c.648C>T	CCDS1445.1																																																																																				0.498	PPP1R15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087974.1		NM_032833		42	93	0	0	0	0.00874	0	42	93		
DSTYK	25778	broad.mit.edu	37	1	205180623	205180623	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:205180623G>A	ENST00000367162.3	-	1	71	c.41C>T	c.(40-42)tCg>tTg	p.S14L	DSTYK_ENST00000367160.4_Missense_Mutation_p.S14L|DSTYK_ENST00000367161.3_Missense_Mutation_p.S14L	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	14					cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						GCCGGGACCCGAGACGGGCTC	0.756																																						uc001hbw.2		NaN																	0				lung(1)	1						c.(40-42)TCG>TTG		receptor interacting protein kinase 5 isoform 1							7.0	8.0	8.0					1																	205180623		2141	4121	6262	SO:0001583	missense	25778					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:205180623G>A	AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"""receptor interacting protein kinase 5"""	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.41C>T	1.37:g.205180623G>A	ENSP00000356130:p.Ser14Leu					DSTYK_uc001hbx.2_Missense_Mutation_p.S14L	p.S14L	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN			1	105	-			14					B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	Missense_Mutation	SNP	ENST00000367162.3	37	c.41C>T	CCDS1451.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.513791	0.85389	.	.	ENSG00000133059	ENST00000367160;ENST00000367161;ENST00000367162	T;T;T	0.79141	-0.77;-1.17;-1.24	5.24	5.24	0.73138	.	0.240503	0.26272	N	0.025334	T	0.61173	0.2326	N	0.22421	0.69	0.33411	D	0.578586	P;P	0.39022	0.655;0.524	B;B	0.23018	0.043;0.019	T	0.76013	-0.3114	10	0.87932	D	0	-0.1875	14.3232	0.66502	0.0:0.0:1.0:0.0	.	14;14	Q6XUX3-2;Q6XUX3	.;DUSTY_HUMAN	L	14	ENSP00000356128:S14L;ENSP00000356129:S14L;ENSP00000356130:S14L	ENSP00000356128:S14L	S	-	2	0	DSTYK	203447246	0.878000	0.30173	0.976000	0.42696	0.943000	0.58893	2.215000	0.42862	2.458000	0.83093	0.462000	0.41574	TCG		0.756	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090345.1		NM_015375		4	5	0	0	0	0.009096	0	4	5		
SLC45A3	85414	broad.mit.edu	37	1	205633626	205633626	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:205633626C>T	ENST00000367145.3	-	2	454	c.159G>A	c.(157-159)atG>atA	p.M53I	SLC45A3_ENST00000460934.1_5'Flank	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	53					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			GCACCATGGTCATGAACTTCT	0.572			T	"""ETV1, ETV5, ELK4, ERG"""	prostate																																	uc001hda.1		NaN		Dom	yes		1	1q32	85414	T	"""solute carrier family 45, member 3"""			E	ETV1|ETV5|ELK4|ERG		prostate 	SLC45A3/BRAF(2)	0				ovary(2)|prostate(2)	4						c.(157-159)ATG>ATA		prostein							184.0	162.0	169.0					1																	205633626		2203	4300	6503	SO:0001583	missense	85414				transmembrane transport	integral to membrane		g.chr1:205633626C>T	AF109301	CCDS1458.1	1q32.1	2013-05-22	2005-10-04	2005-10-04	ENSG00000158715	ENSG00000158715		"""Solute carriers"""	8642	protein-coding gene	gene with protein product		605097	"""prostate cancer associated protein 6"", ""prostate cancer associated protein 2"", ""prostate cancer associated protein 8"""	PCANAP6, PCANAP2, PCANAP8		10613842, 11245466	Standard	XM_005245556		Approved	IPCA-6, prostein, IPCA-2, IPCA-8	uc001hda.1	Q96JT2	OTTHUMG00000037223	ENST00000367145.3:c.159G>A	1.37:g.205633626C>T	ENSP00000356113:p.Met53Ile					SLC45A3_uc010prn.1_5'Flank|SLC45A3_uc010pro.1_5'Flank|SLC45A3_uc010prp.1_RNA|ELK4_uc010prq.1_Intron	p.M53I	NM_033102	NP_149093	Q96JT2	S45A3_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0194)		2	498	-	Breast(84;0.07)		53			Helical; Name=2; (Potential).		A8K2U9	Missense_Mutation	SNP	ENST00000367145.3	37	c.159G>A	CCDS1458.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.981087	0.92982	.	.	ENSG00000158715	ENST00000367145	D	0.92545	-3.06	5.25	5.25	0.73442	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.95526	0.8546	M	0.76574	2.34	0.80722	D	1	D	0.69078	0.997	D	0.68192	0.956	D	0.94397	0.7619	10	0.33141	T	0.24	-15.9561	18.4523	0.90709	0.0:1.0:0.0:0.0	.	53	Q96JT2	S45A3_HUMAN	I	53	ENSP00000356113:M53I	ENSP00000356113:M53I	M	-	3	0	SLC45A3	203900249	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.456000	0.83038	0.561000	0.74099	ATG		0.572	SLC45A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090619.1		NM_033102		71	166	0	0	0	0.01441	0	71	166		
PLXNA2	5362	broad.mit.edu	37	1	208390236	208390236	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:208390236C>T	ENST00000367033.3	-	2	1789	c.1032G>A	c.(1030-1032)aaG>aaA	p.K344K		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	344	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GGTGATACTGCTTCTGCCCTT	0.592																																						uc001hgz.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1030-1032)AAG>AAA		plexin A2 precursor							71.0	64.0	67.0					1																	208390236		2203	4300	6503	SO:0001819	synonymous_variant	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208390236C>T	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.1032G>A	1.37:g.208390236C>T						PLXNA2_uc001hha.3_Silent_p.K398K	p.K344K	NM_025179	NP_079455	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	2	1790	-			344			Extracellular (Potential).|Sema.		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Silent	SNP	ENST00000367033.3	37	c.1032G>A	CCDS31013.1																																																																																				0.592	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6		NM_025179		20	30	0	0	0	0.008871	0	20	30		
RPS6KC1	26750	broad.mit.edu	37	1	213415584	213415584	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:213415584G>A	ENST00000366960.3	+	11	2915	c.2765G>A	c.(2764-2766)aGa>aAa	p.R922K	RPS6KC1_ENST00000543354.1_Missense_Mutation_p.R625K|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.R910K|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.R710K|RPS6KC1_ENST00000490299.1_3'UTR	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	922	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		GCTTTACATAGAGAGGGAATT	0.418																																						uc010ptr.1		NaN																	0				lung(4)|ovary(3)|breast(1)	8						c.(2764-2766)AGA>AAA		ribosomal protein S6 kinase, 52kDa, polypeptide							87.0	90.0	89.0					1																	213415584		2199	4297	6496	SO:0001583	missense	26750				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	g.chr1:213415584G>A	AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.2765G>A	1.37:g.213415584G>A	ENSP00000355927:p.Arg922Lys					RPS6KC1_uc001hkd.2_Missense_Mutation_p.R910K|RPS6KC1_uc010pts.1_Missense_Mutation_p.R710K|RPS6KC1_uc010ptt.1_Missense_Mutation_p.R710K|RPS6KC1_uc010ptu.1_Missense_Mutation_p.R741K|RPS6KC1_uc010ptv.1_Missense_Mutation_p.R457K|RPS6KC1_uc001hke.2_Missense_Mutation_p.R741K	p.R922K	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)	11	2924	+			922			Protein kinase 2.		B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	ENST00000366960.3	37	c.2765G>A	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.216034	0.58452	.	.	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959;ENST00000543354	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	5.75	5.75	0.90469	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.170073	0.56097	D	0.000039	T	0.28067	0.0692	N	0.20445	0.575	0.39148	D	0.962167	P;P;P	0.48834	0.916;0.87;0.87	P;P;P	0.53224	0.721;0.706;0.706	T	0.01998	-1.1232	10	0.08381	T	0.77	-43.3846	19.9598	0.97242	0.0:0.0:1.0:0.0	.	710;922;910	F5H7T0;Q96S38;B1APS8	.;KS6C1_HUMAN;.	K	710;922;910;625	ENSP00000442306:R710K;ENSP00000355927:R922K;ENSP00000355926:R910K;ENSP00000439282:R625K	ENSP00000355926:R910K	R	+	2	0	RPS6KC1	211482207	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.718000	0.74713	2.716000	0.92895	0.655000	0.94253	AGA		0.418	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3		NM_012424		35	69	0	0	0	0.00623	0	35	69		
USH2A	7399	broad.mit.edu	37	1	216591900	216591900	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:216591900G>A	ENST00000307340.3	-	3	993	c.607C>T	c.(607-609)Ctg>Ttg	p.L203L	USH2A_ENST00000366942.3_Silent_p.L203L|USH2A_ENST00000366943.2_Silent_p.L203L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	203					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATTCTCCCCAGTGTCATTACT	0.338										HNSCC(13;0.011)																												uc001hku.1		NaN																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(607-609)CTG>TTG		usherin isoform B							118.0	116.0	116.0					1																	216591900		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216591900G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.607C>T	1.37:g.216591900G>A		HNSCC(13;0.011)				USH2A_uc001hkv.2_Silent_p.L203L	p.L203L	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	3	994	-			203			Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.607C>T	CCDS31025.1																																																																																				0.338	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1		NM_007123		24	66	0	0	0	0.004656	0	24	66		
TP53BP2	7159	broad.mit.edu	37	1	223986194	223986194	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:223986194C>T	ENST00000343537.7	-	12	1962	c.1671G>A	c.(1669-1671)ccG>ccA	p.P557P	TP53BP2_ENST00000391878.2_Silent_p.P428P|TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391879.2_Intron	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	551					cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)	p.P428P(1)|p.P557P(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		GCAGCACTCTCGGCTGCTGCC	0.542																																						uc010pvb.1		NaN																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|lung(1)	3						c.(1669-1671)CCG>CCA		tumor protein p53 binding protein, 2 isoform 1							142.0	153.0	149.0					1																	223986194		2203	4300	6503	SO:0001819	synonymous_variant	7159				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:223986194C>T	U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	12000	protein-coding gene	gene with protein product		602143	"""tumor protein p53-binding protein, 2"""			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.1671G>A	1.37:g.223986194C>T						TP53BP2_uc001hod.2_Silent_p.P428P|TP53BP2_uc010puz.1_Intron|TP53BP2_uc010pva.1_Silent_p.P196P	p.P557P	NM_001031685	NP_001026855	Q13625	ASPP2_HUMAN		GBM - Glioblastoma multiforme(131;0.0958)	12	1963	-			551					B4DG66|Q12892|Q86X75|Q96KQ3	Silent	SNP	ENST00000343537.7	37	c.1671G>A	CCDS44319.1																																																																																				0.542	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3		NM_001031685, NM_005426		47	116	0	0	0	0.01441	0	47	116		
ACBD3	64746	broad.mit.edu	37	1	226340098	226340098	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:226340098G>A	ENST00000366812.5	-	7	1367	c.1313C>T	c.(1312-1314)tCt>tTt	p.S438F	ACBD3_ENST00000464927.1_5'Flank|RP11-275I14.4_ENST00000440540.1_RNA	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	438	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				steroid biosynthetic process (GO:0006694)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		AGTGTTTGGAGAGTCTGTCCA	0.478																																						uc001hpy.2		NaN																	0					0						c.(1312-1314)TCT>TTT		acyl-Coenzyme A binding domain containing 3							199.0	184.0	189.0					1																	226340098		2203	4300	6503	SO:0001583	missense	64746				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding	g.chr1:226340098G>A	AB043587	CCDS1551.1	1q41	2013-10-16	2010-04-30	2003-11-12	ENSG00000182827	ENSG00000182827		"""A-kinase anchor proteins"""	15453	protein-coding gene	gene with protein product	"""PBR- and PKA-associated protein 7"""	606809	"""golgi complex associated protein 1, 60kDa"", ""acyl-Coenzyme A binding domain containing 3"""	GOLPH1, GOCAP1		12692076, 20150326	Standard	NM_022735		Approved	GCP60, PAP7	uc001hpy.3	Q9H3P7	OTTHUMG00000037560	ENST00000366812.5:c.1313C>T	1.37:g.226340098G>A	ENSP00000355777:p.Ser438Phe						p.S438F	NM_022735	NP_073572	Q9H3P7	GCP60_HUMAN		GBM - Glioblastoma multiforme(131;0.121)	7	1360	-	Breast(184;0.158)		438			GOLD.		B2RB29|Q5VTJ0|Q6P9F1|Q8IZC5|Q8N4D6|Q9H6U3	Missense_Mutation	SNP	ENST00000366812.5	37	c.1313C>T	CCDS1551.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.944724	0.53079	.	.	ENSG00000182827	ENST00000366812	T	0.46819	0.86	5.46	5.46	0.80206	GOLD (2);	0.205800	0.52532	D	0.000074	T	0.56717	0.2004	L	0.47716	1.5	0.58432	D	0.999999	B	0.33883	0.43	P	0.46389	0.515	T	0.54781	-0.8242	10	0.46703	T	0.11	-14.5379	19.3089	0.94177	0.0:0.0:1.0:0.0	.	438	Q9H3P7	GCP60_HUMAN	F	438	ENSP00000355777:S438F	ENSP00000355777:S438F	S	-	2	0	ACBD3	224406721	1.000000	0.71417	1.000000	0.80357	0.160000	0.22226	9.397000	0.97276	2.571000	0.86741	0.655000	0.94253	TCT		0.478	ACBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091528.1		NM_022735		67	110	0	0	0	0.01441	0	67	110		
OBSCN	84033	broad.mit.edu	37	1	228467915	228467915	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:228467915G>A	ENST00000422127.1	+	29	7743	c.7699G>A	c.(7699-7701)Gca>Aca	p.A2567T	OBSCN_ENST00000570156.2_Missense_Mutation_p.A2996T|OBSCN_ENST00000284548.11_Missense_Mutation_p.A2567T|OBSCN_ENST00000359599.6_Missense_Mutation_p.A1414T|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2567	Ig-like 25.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCTACAGGATGCAGAGGCCAC	0.632																																						uc009xez.1		NaN																	0				stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(7699-7701)GCA>ACA		obscurin, cytoskeletal calmodulin and							44.0	53.0	50.0					1																	228467915		2142	4243	6385	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228467915G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.7699G>A	1.37:g.228467915G>A	ENSP00000409493:p.Ala2567Thr					OBSCN_uc001hsn.2_Missense_Mutation_p.A2567T|OBSCN_uc001hsp.1_Missense_Mutation_p.A266T|OBSCN_uc001hsq.1_5'Flank	p.A2567T	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			29	7743	+		Prostate(94;0.0405)	2567			Ig-like 25.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.7699G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	g	6.028	0.373546	0.11409	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599;ENST00000366706	T;T;T	0.67523	-0.27;-0.27;-0.27	5.5	0.382	0.16234	Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.889253	0.09775	N	0.757488	T	0.49440	0.1557	L	0.31752	0.955	0.19945	N	0.999949	B;B;B	0.22909	0.007;0.002;0.077	B;B;B	0.20184	0.014;0.004;0.028	T	0.28839	-1.0031	10	0.22109	T	0.4	.	7.2036	0.25895	0.2284:0.0:0.6577:0.1139	.	2567;2567;2567	Q5VST9;Q5VST9-2;Q5VST9-3	OBSCN_HUMAN;.;.	T	2567;2567;1414;266	ENSP00000284548:A2567T;ENSP00000409493:A2567T;ENSP00000352613:A1414T	ENSP00000284548:A2567T	A	+	1	0	OBSCN	226534538	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.270000	0.18607	-0.172000	0.10779	-0.270000	0.10280	GCA		0.632	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_052843		11	60	0	0	0	0.013537	0	11	60		
NUP133	55746	broad.mit.edu	37	1	229625722	229625722	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:229625722G>A	ENST00000261396.3	-	9	1265	c.1174C>T	c.(1174-1176)Caa>Taa	p.Q392*	NUP133_ENST00000537506.1_Nonsense_Mutation_p.Q376*	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	392					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				GGATTATATTGAGTGACTTCT	0.318																																						uc001htn.2		NaN																	0				breast(4)|skin(2)|ovary(1)	7						c.(1174-1176)CAA>TAA		nucleoporin 133kDa							62.0	64.0	64.0					1																	229625722		2203	4300	6503	SO:0001587	stop_gained	55746				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr1:229625722G>A		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"""nucleoporin 133kD"""			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.1174C>T	1.37:g.229625722G>A	ENSP00000261396:p.Gln392*						p.Q392*	NM_018230	NP_060700	Q8WUM0	NU133_HUMAN			9	1266	-	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)	392					B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Nonsense_Mutation	SNP	ENST00000261396.3	37	c.1174C>T	CCDS1579.1	.	.	.	.	.	.	.	.	.	.	G	37	6.250952	0.97412	.	.	ENSG00000069248	ENST00000366681;ENST00000261396;ENST00000366679;ENST00000537506	.	.	.	5.54	5.54	0.83059	.	0.102541	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-21.4217	19.8379	0.96666	0.0:0.0:1.0:0.0	.	.	.	.	X	392;392;392;376	.	ENSP00000261396:Q392X	Q	-	1	0	NUP133	227692345	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	5.745000	0.68672	2.765000	0.95021	0.655000	0.94253	CAA		0.318	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1		NM_018230		16	23	0	0	0	0.010504	0	16	23		
AGT	183	broad.mit.edu	37	1	230839024	230839024	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:230839024C>T	ENST00000366667.4	-	5	1535	c.1321G>A	c.(1321-1323)Gag>Aag	p.E441K		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	441					activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|angiotensin maturation (GO:0002003)|angiotensin mediated vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001998)|angiotensin-mediated drinking behavior (GO:0003051)|artery smooth muscle contraction (GO:0014824)|astrocyte activation (GO:0048143)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|branching involved in ureteric bud morphogenesis (GO:0001658)|catenin import into nucleus (GO:0035411)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|cellular sodium ion homeostasis (GO:0006883)|cytokine secretion (GO:0050663)|ERK1 and ERK2 cascade (GO:0070371)|establishment of blood-nerve barrier (GO:0008065)|excretion (GO:0007588)|extracellular matrix organization (GO:0030198)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of tissue remodeling (GO:0034104)|nitric oxide mediated signal transduction (GO:0007263)|ovarian follicle rupture (GO:0001543)|peristalsis (GO:0030432)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytokine production (GO:0001819)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of organ growth (GO:0046622)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of calcium ion transport (GO:0051924)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of norepinephrine secretion (GO:0014061)|regulation of proteolysis (GO:0030162)|regulation of renal output by angiotensin (GO:0002019)|regulation of renal sodium excretion (GO:0035813)|regulation of vasoconstriction (GO:0019229)|renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure (GO:0001999)|renal system process (GO:0003014)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cold (GO:0009409)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|response to salt stress (GO:0009651)|small molecule metabolic process (GO:0044281)|smooth muscle cell differentiation (GO:0051145)|smooth muscle cell proliferation (GO:0048659)|stress-activated MAPK cascade (GO:0051403)|uterine smooth muscle contraction (GO:0070471)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|hormone activity (GO:0005179)|serine-type endopeptidase inhibitor activity (GO:0004867)|superoxide-generating NADPH oxidase activator activity (GO:0016176)|type 1 angiotensin receptor binding (GO:0031702)|type 2 angiotensin receptor binding (GO:0031703)			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TGGGTAGACTCTGTGGGCTCT	0.527																																						uc001hty.3		NaN																	0					0						c.(1321-1323)GAG>AAG		angiotensinogen preproprotein	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)						143.0	133.0	136.0					1																	230839024		2203	4300	6503	SO:0001583	missense	183				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding	g.chr1:230839024C>T	K02215	CCDS1585.1	1q42.2	2014-02-18	2005-08-18	2001-06-29	ENSG00000135744	ENSG00000135744		"""Serine (or cysteine) peptidase inhibitors"", ""Endogenous ligands"""	333	protein-coding gene	gene with protein product	"""alpha-1 antiproteinase, antitrypsin"""	106150		SERPINA8		6089875, 24172014	Standard	NM_000029		Approved		uc001hty.4	P01019	OTTHUMG00000037757	ENST00000366667.4:c.1321G>A	1.37:g.230839024C>T	ENSP00000355627:p.Glu441Lys					AGT_uc009xfe.2_3'UTR|AGT_uc009xff.2_Missense_Mutation_p.E413K	p.E441K	NM_000029	NP_000020	P01019	ANGT_HUMAN		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	5	1829	-	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)	441					Q16358|Q16359|Q96F91	Missense_Mutation	SNP	ENST00000366667.4	37	c.1321G>A	CCDS1585.1	.	.	.	.	.	.	.	.	.	.	c	15.24	2.775953	0.49786	.	.	ENSG00000135744	ENST00000366667;ENST00000430091	D	0.87650	-2.28	5.44	3.53	0.40419	Serpin domain (3);	0.726359	0.14256	N	0.331125	D	0.85340	0.5674	L	0.59436	1.845	0.09310	N	1	P;P	0.39352	0.669;0.669	B;B	0.43838	0.433;0.433	T	0.73550	-0.3947	10	0.33141	T	0.24	.	7.9902	0.30235	0.0:0.7532:0.1596:0.0872	.	441;441	B0ZBE2;P01019	.;ANGT_HUMAN	K	441;359	ENSP00000355627:E441K	ENSP00000355627:E441K	E	-	1	0	AGT	228905647	0.627000	0.27129	0.003000	0.11579	0.084000	0.17831	1.772000	0.38552	0.636000	0.30508	0.651000	0.88453	GAG		0.527	AGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092102.1		NM_000029		32	71	0	0	0	0.013726	0	32	71		
TTC13	79573	broad.mit.edu	37	1	231048454	231048454	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:231048454G>A	ENST00000366661.4	-	19	2151	c.2144C>T	c.(2143-2145)aCa>aTa	p.T715I	TTC13_ENST00000414259.1_Missense_Mutation_p.T662I|TTC13_ENST00000366662.4_Missense_Mutation_p.T661I	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	715										central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		ATATAATTGTGTCCTTTCTTC	0.318																																						uc001huf.3		NaN																	0				ovary(1)|skin(1)	2						c.(2143-2145)ACA>ATA		tetratricopeptide repeat domain 13 isoform a							168.0	171.0	170.0					1																	231048454		2203	4300	6503	SO:0001583	missense	79573						binding	g.chr1:231048454G>A		CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"""Tetratricopeptide (TTC) repeat domain containing"""	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.2144C>T	1.37:g.231048454G>A	ENSP00000355621:p.Thr715Ile					TTC13_uc009xfi.2_Missense_Mutation_p.T662I|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Missense_Mutation_p.T661I|TTC13_uc009xfk.1_Missense_Mutation_p.T604I	p.T715I	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN		COAD - Colon adenocarcinoma(196;0.243)	19	2175	-	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	715					B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Missense_Mutation	SNP	ENST00000366661.4	37	c.2144C>T	CCDS1588.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.243196	0.79912	.	.	ENSG00000143643	ENST00000366661;ENST00000366662;ENST00000414259	T;T;T	0.46063	0.88;0.92;0.92	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.61627	0.2362	L	0.51422	1.61	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.983;0.991;0.999;0.988	T	0.62172	-0.6910	10	0.62326	D	0.03	-3.0897	19.2903	0.94096	0.0:0.0:1.0:0.0	.	640;662;661;715	Q69YR0;E9PGV4;Q8NBP0-2;Q8NBP0	.;.;.;TTC13_HUMAN	I	715;661;662	ENSP00000355621:T715I;ENSP00000355622:T661I;ENSP00000416631:T662I	ENSP00000355621:T715I	T	-	2	0	TTC13	229115077	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.132000	0.94455	2.569000	0.86673	0.455000	0.32223	ACA		0.318	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092229.2		NM_024525		19	125	0	0	0	0.008871	0	19	125		
TTC13	79573	broad.mit.edu	37	1	231069546	231069546	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:231069546T>G	ENST00000366661.4	-	9	969	c.962A>C	c.(961-963)aAa>aCa	p.K321T	TTC13_ENST00000414259.1_Missense_Mutation_p.K268T|TTC13_ENST00000366662.4_Missense_Mutation_p.K268T	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	321								p.K321T(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		CCCTAGACTTTTATATGCATC	0.343																																						uc001huf.3		NaN																	1	Substitution - Missense(1)		large_intestine(1)	ovary(1)|skin(1)	2						c.(961-963)AAA>ACA		tetratricopeptide repeat domain 13 isoform a							71.0	74.0	73.0					1																	231069546		2203	4298	6501	SO:0001583	missense	79573						binding	g.chr1:231069546T>G		CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"""Tetratricopeptide (TTC) repeat domain containing"""	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.962A>C	1.37:g.231069546T>G	ENSP00000355621:p.Lys321Thr					TTC13_uc009xfi.2_Missense_Mutation_p.K268T|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Missense_Mutation_p.K268T|TTC13_uc009xfk.1_Missense_Mutation_p.K211T	p.K321T	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN		COAD - Colon adenocarcinoma(196;0.243)	9	993	-	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	321			TPR 5.		B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Missense_Mutation	SNP	ENST00000366661.4	37	c.962A>C	CCDS1588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.04|17.04	3.288105|3.288105	0.59976|0.59976	.|.	.|.	ENSG00000143643|ENSG00000143643	ENST00000522821|ENST00000366661;ENST00000366662;ENST00000414259	T|T;T;T	0.29142|0.58797	1.58|1.21;0.31;0.31	5.66|5.66	5.66|5.66	0.87406|0.87406	.|Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.54759|0.54759	0.1878|0.1878	N|N	0.24115|0.24115	0.695|0.695	0.58432|0.58432	D|D	0.999998|0.999998	.|P;P;P;P	.|0.52842	.|0.849;0.956;0.822;0.941	.|B;P;B;P	.|0.53006	.|0.338;0.715;0.268;0.577	T|T	0.50939|0.50939	-0.8768|-0.8768	8|10	0.87932|0.22706	D|T	0|0.39	-4.2907|-4.2907	15.8856|15.8856	0.79244|0.79244	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|246;268;268;321	.|Q69YR0;E9PGV4;Q8NBP0-2;Q8NBP0	.|.;.;.;TTC13_HUMAN	Q|T	181|321;268;268	ENSP00000430385:K181Q|ENSP00000355621:K321T;ENSP00000355622:K268T;ENSP00000416631:K268T	ENSP00000430385:K181Q|ENSP00000355621:K321T	K|K	-|-	1|2	0|0	TTC13|TTC13	229136169|229136169	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.913000|5.913000	0.69957|0.69957	2.147000|2.147000	0.66899|0.66899	0.460000|0.460000	0.39030|0.39030	AAA|AAA		0.343	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092229.2		NM_024525		27	72	0	0	0	0.013726	0	27	72		
SIPA1L2	57568	broad.mit.edu	37	1	232551310	232551310	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:232551310C>T	ENST00000366630.1	-	18	5050	c.4692G>A	c.(4690-4692)ctG>ctA	p.L1564L	SIPA1L2_ENST00000308942.4_Silent_p.L638L|SIPA1L2_ENST00000262861.4_Silent_p.L1564L			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1564					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GGAGGGGCATCAGGCCAGGAT	0.537																																						uc001hvg.2		NaN																	0				ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6						c.(4690-4692)CTG>CTA		signal-induced proliferation-associated 1 like							119.0	134.0	129.0					1																	232551310		2019	4178	6197	SO:0001819	synonymous_variant	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232551310C>T	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.4692G>A	1.37:g.232551310C>T						SIPA1L2_uc001hvf.2_Silent_p.L638L	p.L1564L	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN			17	4850	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	1564					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Silent	SNP	ENST00000366630.1	37	c.4692G>A	CCDS41474.1																																																																																				0.537	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1		XM_045839		41	92	0	0	0	0.01441	0	41	92		
ARID4B	51742	broad.mit.edu	37	1	235338568	235338568	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:235338568C>T	ENST00000264183.3	-	22	4092	c.3595G>A	c.(3595-3597)Gat>Aat	p.D1199N	ARID4B_ENST00000349213.3_Missense_Mutation_p.D1113N|ARID4B_ENST00000366603.2_Missense_Mutation_p.D1199N|ARID4B_ENST00000494543.1_5'Flank	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	1199					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			GGATCCTTATCACCATTCTTT	0.408																																						uc001hwq.2		NaN																	0				ovary(2)|lung(1)	3						c.(3595-3597)GAT>AAT		AT rich interactive domain 4B isoform 1							178.0	175.0	176.0					1																	235338568		2203	4300	6503	SO:0001583	missense	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235338568C>T	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.3595G>A	1.37:g.235338568C>T	ENSP00000264183:p.Asp1199Asn					ARID4B_uc001hwr.2_Missense_Mutation_p.D1113N|ARID4B_uc001hwp.2_RNA	p.D1199N	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		22	4093	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	1199					A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Missense_Mutation	SNP	ENST00000264183.3	37	c.3595G>A	CCDS31061.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.043767	0.93685	.	.	ENSG00000054267	ENST00000349213;ENST00000366603;ENST00000264183	T;T;T	0.25414	1.8;1.82;1.82	5.32	5.32	0.75619	.	0.239047	0.43579	D	0.000551	T	0.33847	0.0877	L	0.40543	1.245	0.49582	D	0.999804	D;P	0.55605	0.972;0.598	P;B	0.49597	0.616;0.247	T	0.04153	-1.0973	10	0.59425	D	0.04	-23.2317	19.3609	0.94438	0.0:1.0:0.0:0.0	.	1113;1199	Q4LE39-2;Q4LE39	.;ARI4B_HUMAN	N	1113;1199;1199	ENSP00000264184:D1113N;ENSP00000355562:D1199N;ENSP00000264183:D1199N	ENSP00000264183:D1199N	D	-	1	0	ARID4B	233405191	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	7.112000	0.77086	2.651000	0.90000	0.650000	0.86243	GAT		0.408	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3		NM_016374		27	64	0	0	0	0.005443	0	27	64		
ARID4B	51742	broad.mit.edu	37	1	235338665	235338665	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:235338665C>G	ENST00000264183.3	-	22	3995	c.3498G>C	c.(3496-3498)aaG>aaC	p.K1166N	ARID4B_ENST00000349213.3_Missense_Mutation_p.K1080N|ARID4B_ENST00000366603.2_Missense_Mutation_p.K1166N|ARID4B_ENST00000494543.1_5'Flank	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	1166					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			CTGGCTGACTCTTAGTTATAC	0.358																																						uc001hwq.2		NaN																	0				ovary(2)|lung(1)	3						c.(3496-3498)AAG>AAC		AT rich interactive domain 4B isoform 1							120.0	123.0	122.0					1																	235338665		2203	4300	6503	SO:0001583	missense	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235338665C>G	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.3498G>C	1.37:g.235338665C>G	ENSP00000264183:p.Lys1166Asn					ARID4B_uc001hwr.2_Missense_Mutation_p.K1080N|ARID4B_uc001hwp.2_RNA	p.K1166N	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		22	3996	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	1166					A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Missense_Mutation	SNP	ENST00000264183.3	37	c.3498G>C	CCDS31061.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.197570	0.58126	.	.	ENSG00000054267	ENST00000349213;ENST00000366603;ENST00000264183	T;T;T	0.28666	1.6;1.63;1.63	5.43	2.46	0.29980	.	0.095869	0.64402	D	0.000001	T	0.42086	0.1187	L	0.45228	1.405	0.53005	D	0.999967	D;D	0.71674	0.996;0.998	D;D	0.78314	0.974;0.991	T	0.08994	-1.0695	10	0.44086	T	0.13	-17.9655	8.9668	0.35881	0.0:0.6891:0.0:0.3109	.	1080;1166	Q4LE39-2;Q4LE39	.;ARI4B_HUMAN	N	1080;1166;1166	ENSP00000264184:K1080N;ENSP00000355562:K1166N;ENSP00000264183:K1166N	ENSP00000264183:K1166N	K	-	3	2	ARID4B	233405288	0.465000	0.25815	1.000000	0.80357	0.990000	0.78478	0.814000	0.27239	0.319000	0.23209	-0.142000	0.14014	AAG		0.358	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3		NM_016374		26	57	0	0	0	0.005443	0	26	57		
OR2M3	127062	broad.mit.edu	37	1	248367166	248367166	+	Missense_Mutation	SNP	G	G	T	rs547891650		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:248367166G>T	ENST00000456743.1	+	1	835	c.797G>T	c.(796-798)cGc>cTc	p.R266L		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	266						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACATCTGATCGCTCCCCAACA	0.502																																						uc010pzg.1		NaN																	0				ovary(1)|skin(1)	2						c.(796-798)CGC>CTC		olfactory receptor, family 2, subfamily M,							183.0	167.0	173.0					1																	248367166		2203	4300	6503	SO:0001583	missense	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248367166G>T		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.797G>T	1.37:g.248367166G>T	ENSP00000389625:p.Arg266Leu						p.R266L	NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	797	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		266			Extracellular (Potential).		B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	c.797G>T	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	A	11.80	1.747751	0.30955	.	.	ENSG00000228198	ENST00000456743	T	0.00091	8.74	2.54	-5.08	0.02929	GPCR, rhodopsin-like superfamily (1);	1.645920	0.04293	U	0.345971	T	0.00210	0.0006	L	0.35414	1.06	0.09310	N	1	P	0.41929	0.765	P	0.49799	0.622	T	0.16689	-1.0394	10	0.72032	D	0.01	.	8.4848	0.33065	0.6469:0.14:0.2131:0.0	.	266	Q8NG83	OR2M3_HUMAN	L	266	ENSP00000389625:R266L	ENSP00000389625:R266L	R	+	2	0	OR2M3	246433789	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.615000	0.00208	-1.765000	0.01303	-2.234000	0.00290	CGC		0.502	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1		NM_001004689		58	110	1	0	3.74213e-36	0.01441	4.06774e-36	58	110		
DIP2C	22982	broad.mit.edu	37	10	486827	486827	+	Silent	SNP	G	G	A	rs139321678	byFrequency	TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:486827G>A	ENST00000280886.6	-	4	465	c.378C>T	c.(376-378)gaC>gaT	p.D126D	DIP2C_ENST00000381496.3_Silent_p.D19D|RP11-490E15.2_ENST00000425723.2_RNA	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	126						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GGGTGTAGGCGTCCATCGAGG	0.607													g|||	3	0.000599042	0.0008	0.0014	5008	,	,		11709	0.001		0.0	False		,,,				2504	0.0					uc001ifp.2		NaN																	0				breast(4)|ovary(2)|large_intestine(1)	7						c.(376-378)GAC>GAT		DIP2 disco-interacting protein 2 homolog C		G		0,4406		0,0,2203	124.0	96.0	105.0		378	-6.2	0.9	10	dbSNP_134	105	9,8591	7.1+/-27.0	0,9,4291	no	coding-synonymous	DIP2C	NM_014974.2		0,9,6494	AA,AG,GG		0.1047,0.0,0.0692		126/1557	486827	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:486827G>A	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.378C>T	10.37:g.486827G>A						DIP2C_uc009xhk.1_Missense_Mutation_p.T128M	p.D126D	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	4	468	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	126					B4DPI5|Q5SS78	Silent	SNP	ENST00000280886.6	37	c.378C>T	CCDS7054.1																																																																																				0.607	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1		NM_014974		15	45	0	0	0	0.006122	0	15	45		
IDI2	91734	broad.mit.edu	37	10	1066834	1066834	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:1066834T>C	ENST00000277517.1	-	4	303	c.239A>G	c.(238-240)tAt>tGt	p.Y80C	IDI2-AS1_ENST00000434470.1_RNA|IDI2-AS1_ENST00000437374.1_RNA|IDI2-AS1_ENST00000428780.2_RNA|IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000420381.1_RNA	NM_033261.2	NP_150286.1	Q9BXS1	IDI2_HUMAN	isopentenyl-diphosphate delta isomerase 2	80	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				cholesterol biosynthetic process (GO:0006695)|dimethylallyl diphosphate biosynthetic process (GO:0050992)|isopentenyl diphosphate metabolic process (GO:0046490)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|isopentenyl-diphosphate delta-isomerase activity (GO:0004452)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)		GTCGGTAAAATACCCTGGAAA	0.443																																						uc001ifv.1		NaN																	0					0						c.(238-240)TAT>TGT		isopentenyl-diphosphate delta isomerase 2							92.0	88.0	90.0					10																	1066834		2203	4300	6503	SO:0001583	missense	91734				carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding	g.chr10:1066834T>C	AF271725	CCDS7055.1	10p15.3	2003-11-19			ENSG00000148377	ENSG00000148377			23487	protein-coding gene	gene with protein product		615389				12477932	Standard	NM_033261		Approved	IPPI2	uc001ifv.1	Q9BXS1	OTTHUMG00000017537	ENST00000277517.1:c.239A>G	10.37:g.1066834T>C	ENSP00000277517:p.Tyr80Cys					C10orf110_uc010qaf.1_5'Flank|C10orf110_uc001ifx.3_5'Flank|C10orf110_uc001ifw.3_5'Flank|C10orf110_uc001ify.3_5'Flank	p.Y80C	NM_033261	NP_150286	Q9BXS1	IDI2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)	4	304	-		Colorectal(49;0.235)	80			Nudix hydrolase.			Missense_Mutation	SNP	ENST00000277517.1	37	c.239A>G	CCDS7055.1	.	.	.	.	.	.	.	.	.	.	T	12.03	1.815312	0.32053	.	.	ENSG00000148377	ENST00000277517	T	0.07908	3.15	3.93	-7.29	0.01451	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.172874	0.51477	U	0.000081	T	0.04861	0.0131	L	0.34521	1.04	0.09310	N	1	B	0.16166	0.016	B	0.23852	0.049	T	0.36311	-0.9753	10	0.15499	T	0.54	-9.3544	11.3173	0.49399	0.0:0.6915:0.1268:0.1817	.	80	Q9BXS1	IDI2_HUMAN	C	80	ENSP00000277517:Y80C	ENSP00000277517:Y80C	Y	-	2	0	IDI2	1056834	0.736000	0.28164	0.000000	0.03702	0.160000	0.22226	0.469000	0.22067	-1.513000	0.01789	0.155000	0.16302	TAT		0.443	IDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046411.1		NM_033261		16	27	0	0	0	0.008871	0	16	27		
FRMD4A	55691	broad.mit.edu	37	10	13782239	13782239	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:13782239G>A	ENST00000357447.2	-	11	995	c.627C>T	c.(625-627)atC>atT	p.I209I	FRMD4A_ENST00000358621.4_Silent_p.I194I|FRMD4A_ENST00000378503.1_Silent_p.I209I|RP11-353M9.1_ENST00000449462.1_RNA|FRMD4A_ENST00000342409.2_Silent_p.I225I	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	209	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GAGACTCCACGATGCTCATGT	0.423																																						uc001ims.2		NaN																	0				ovary(1)|skin(1)|pancreas(1)	3						c.(625-627)ATC>ATT		FERM domain containing 4A							111.0	104.0	107.0					10																	13782239		2203	4300	6503	SO:0001819	synonymous_variant	55691					cytoplasm|cytoskeleton	binding	g.chr10:13782239G>A	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.627C>T	10.37:g.13782239G>A						FRMD4A_uc009xjf.1_Silent_p.I209I|FRMD4A_uc001imt.1_Silent_p.I242I|FRMD4A_uc001imu.1_Silent_p.I225I	p.I209I	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN			11	979	-			209			FERM.		A7E2Y3|Q5T377	Silent	SNP	ENST00000357447.2	37	c.627C>T	CCDS7101.1																																																																																				0.423	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1		NM_018027		17	56	0	0	0	0.00499	0	17	56		
PLXDC2	84898	broad.mit.edu	37	10	20453444	20453444	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:20453444A>T	ENST00000377252.4	+	7	1672	c.831A>T	c.(829-831)aaA>aaT	p.K277N	PLXDC2_ENST00000377242.3_Missense_Mutation_p.K228N|PLXDC2_ENST00000377238.2_3'UTR	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	277					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						ATCCAGTGAAAGTCGGACTGT	0.443																																						uc001iqg.1		NaN																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(829-831)AAA>AAT		plexin domain containing 2 precursor							129.0	102.0	112.0					10																	20453444		2203	4300	6503	SO:0001583	missense	84898					integral to membrane		g.chr10:20453444A>T	AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"""tumor endothelial marker 7-related precursor"""	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.831A>T	10.37:g.20453444A>T	ENSP00000366460:p.Lys277Asn					PLXDC2_uc001iqh.1_Missense_Mutation_p.K228N|PLXDC2_uc009xkc.1_RNA	p.K277N	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN			7	1468	+			277			Extracellular (Potential).		Q96E59|Q96PD9|Q96SU9	Missense_Mutation	SNP	ENST00000377252.4	37	c.831A>T	CCDS7132.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.197951	0.79015	.	.	ENSG00000120594	ENST00000377252;ENST00000377242;ENST00000377238;ENST00000536022	T;T	0.77098	-1.07;-1.07	5.7	3.4	0.38934	.	0.000000	0.85682	D	0.000000	D	0.83031	0.5166	M	0.82517	2.595	0.80722	D	1	D;P	0.54601	0.967;0.945	P;P	0.53102	0.718;0.549	D	0.83738	0.0202	10	0.62326	D	0.03	.	9.3812	0.38316	0.8568:0.0:0.1432:0.0	.	228;277	Q6UX71-2;Q6UX71	.;PXDC2_HUMAN	N	277;228;140;263	ENSP00000366460:K277N;ENSP00000366450:K228N	ENSP00000366446:K140N	K	+	3	2	PLXDC2	20493450	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	2.454000	0.44979	1.000000	0.39049	0.377000	0.23210	AAA		0.443	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047101.2		NM_032812		4	43	0	0	0	0.009096	0	4	43		
ABI1	10006	broad.mit.edu	37	10	27149698	27149698	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:27149698T>C	ENST00000376142.2	-	1	166	c.95A>G	c.(94-96)tAc>tGc	p.Y32C	ABI1_ENST00000376134.3_Missense_Mutation_p.Y32C|ABI1_ENST00000359188.4_Missense_Mutation_p.Y32C|ABI1_ENST00000355394.4_Missense_Mutation_p.Y32C|ABI1_ENST00000376140.3_Missense_Mutation_p.Y32C|ABI1_ENST00000346832.5_Missense_Mutation_p.Y32C|ABI1_ENST00000376139.2_Missense_Mutation_p.Y32C|ABI1_ENST00000536334.1_Missense_Mutation_p.Y32C|ABI1_ENST00000376160.1_Missense_Mutation_p.Y32C|ABI1_ENST00000376170.4_Missense_Mutation_p.Y32C|ABI1_ENST00000376166.1_Missense_Mutation_p.Y32C|ABI1_ENST00000376138.3_Missense_Mutation_p.Y32C|ABI1_ENST00000490841.2_Missense_Mutation_p.Y32C|ABI1_ENST00000376137.4_Missense_Mutation_p.Y32C	NM_005470.3	NP_005461.2	Q8IZP0	ABI1_HUMAN	abl-interactor 1	32	Required for binding to WASF1. {ECO:0000250}.				actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium morphogenesis (GO:0072673)|megakaryocyte development (GO:0035855)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|SCAR complex (GO:0031209)	cytoskeletal protein binding (GO:0008092)|protein complex binding (GO:0032403)|protein tyrosine kinase activator activity (GO:0030296)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTTTTCACAGTAGTCTGCCAC	0.627																																						uc001isx.2		NaN																	0				central_nervous_system(1)	1						c.(94-96)TAC>TGC		abl-interactor 1 isoform a							130.0	113.0	119.0					10																	27149698		2203	4300	6503	SO:0001583	missense	10006				actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding	g.chr10:27149698T>C	U87166	CCDS7150.1, CCDS31169.1, CCDS31170.1, CCDS31171.1, CCDS53497.1, CCDS53498.1, CCDS53499.1, CCDS53500.1, CCDS53501.1, CCDS73077.1, CCDS73078.1	10p12.1	2009-05-29	2004-03-17	2004-03-19	ENSG00000136754	ENSG00000136754			11320	protein-coding gene	gene with protein product		603050	"""spectrin SH3 domain binding protein 1"""	SSH3BP1		9593709, 9010225	Standard	NM_005470		Approved	E3B1, ABI-1	uc001isx.3	Q8IZP0	OTTHUMG00000017848	ENST00000376142.2:c.95A>G	10.37:g.27149698T>C	ENSP00000365312:p.Tyr32Cys					ABI1_uc001ite.2_Missense_Mutation_p.Y32C|ABI1_uc010qdh.1_Missense_Mutation_p.Y32C|ABI1_uc010qdi.1_Missense_Mutation_p.Y32C|ABI1_uc001isy.2_Missense_Mutation_p.Y32C|ABI1_uc001ita.2_Missense_Mutation_p.Y32C|ABI1_uc001isz.2_Missense_Mutation_p.Y32C|ABI1_uc001itb.2_Missense_Mutation_p.Y32C|ABI1_uc001itc.2_Missense_Mutation_p.Y32C|ABI1_uc010qdj.1_Missense_Mutation_p.Y32C|ABI1_uc001itd.2_Missense_Mutation_p.Y32C|ABI1_uc010qdk.1_Missense_Mutation_p.Y32C	p.Y32C	NM_005470	NP_005461	Q8IZP0	ABI1_HUMAN			1	262	-			32			Required for binding to WASF1 (By similarity).		A9Z1Y6|B3KX62|B4DQ58|H7BXI6|O15147|O76049|O95060|Q5T2R3|Q5T2R4|Q5T2R6|Q5T2R7|Q5T2R9|Q5W070|Q5W072|Q8TB63|Q96S81|Q9NXZ9|Q9NYB8	Missense_Mutation	SNP	ENST00000376142.2	37	c.95A>G	CCDS7150.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.578340	0.86645	.	.	ENSG00000136754	ENST00000376138;ENST00000376170;ENST00000376166;ENST00000376160;ENST00000376142;ENST00000359188;ENST00000376139;ENST00000355394;ENST00000346832;ENST00000376134;ENST00000376137;ENST00000536334;ENST00000490841;ENST00000376140	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.90004	-2.6;-2.6;-2.6;-2.6;-2.6;-2.6;-2.6;-2.6;-2.6;-2.6;-2.6;-2.6;-2.6;-2.6	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.95185	0.8439	M	0.90252	3.1	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.997	P;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.841;0.986;0.948;0.994;0.98;0.985;0.981;0.999;0.998;0.971;0.981;0.938	D	0.96016	0.9005	10	0.87932	D	0	-4.4627	14.0182	0.64536	0.0:0.0:0.0:1.0	.	32;32;32;32;32;57;32;32;32;32;32;32	B6VEX4;B6VEX3;B4DQ58;Q8IZP0-10;Q5T2R9;Q59G41;Q8IZP0-6;B3KX62;Q8IZP0-3;Q8IZP0-5;Q8IZP0-9;Q8IZP0	.;.;.;.;.;.;.;.;.;.;.;ABI1_HUMAN	C	32	ENSP00000365308:Y32C;ENSP00000365340:Y32C;ENSP00000365336:Y32C;ENSP00000365330:Y32C;ENSP00000365312:Y32C;ENSP00000352114:Y32C;ENSP00000365309:Y32C;ENSP00000347555:Y32C;ENSP00000279599:Y32C;ENSP00000365304:Y32C;ENSP00000365307:Y32C;ENSP00000439646:Y32C;ENSP00000440101:Y32C;ENSP00000365310:Y32C	ENSP00000279599:Y32C	Y	-	2	0	ABI1	27189704	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.223000	0.78033	2.047000	0.60756	0.460000	0.39030	TAC		0.627	ABI1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047287.1		NM_005470		24	62	0	0	0	0.003954	0	24	62		
RAB18	22931	broad.mit.edu	37	10	27793340	27793340	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:27793340C>T	ENST00000356940.6	+	1	144	c.42C>T	c.(40-42)atC>atT	p.I14I	RAB18_ENST00000465772.1_3'UTR|RAB18_ENST00000375802.3_Silent_p.I14I|RAB18_ENST00000535776.1_Silent_p.I14I	NM_001256410.1|NM_001256415.1|NM_021252.4	NP_001243339.1|NP_001243344.1|NP_067075.1	Q9NP72	RAB18_HUMAN	RAB18, member RAS oncogene family	14					brain development (GO:0007420)|endoplasmic reticulum tubular network organization (GO:0071786)|eye development (GO:0001654)|GTP catabolic process (GO:0006184)|lipid particle organization (GO:0034389)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			kidney(1)|large_intestine(1)|lung(1)	3						TCCTCATCATCGGCGAGAGTG	0.682																																						uc001itv.2		NaN																	0					0						c.(40-42)ATC>ATT		RAB18, member RAS oncogene family							81.0	73.0	75.0					10																	27793340		2194	4286	6480	SO:0001819	synonymous_variant	22931				endocytosis|protein transport|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|GTPase activity|transcription factor binding	g.chr10:27793340C>T	AJ277145	CCDS7155.1, CCDS58073.1, CCDS73080.1, CCDS73081.1	10p12	2011-03-07			ENSG00000099246	ENSG00000099246		"""RAB, member RAS oncogene"""	14244	protein-coding gene	gene with protein product		602207				10648831	Standard	NM_021252		Approved		uc001itw.4	Q9NP72	OTTHUMG00000017861	ENST00000356940.6:c.42C>T	10.37:g.27793340C>T						RAB18_uc001itw.2_Silent_p.I14I|RAB18_uc010qdq.1_Silent_p.I14I|RAB18_uc010qdr.1_Silent_p.I14I	p.I14I	NM_021252	NP_067075	Q9NP72	RAB18_HUMAN			1	92	+			14					B3KMC7|B7Z333|D3DRW1|Q53FX8|Q56UN9|Q6FIH1	Silent	SNP	ENST00000356940.6	37	c.42C>T	CCDS7155.1																																																																																				0.682	RAB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047326.2		NM_021252		5	10	0	0	0	0.00308	0	5	10		
RBP3	5949	broad.mit.edu	37	10	48389779	48389779	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:48389779C>T	ENST00000224600.4	-	1	1212	c.1099G>A	c.(1099-1101)Gat>Aat	p.D367N	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	367	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GTGACCAGATCTTCCTCGGAG	0.632																																						uc001jez.2		NaN																	0				large_intestine(1)|central_nervous_system(1)	2						c.(1099-1101)GAT>AAT		retinol-binding protein 3 precursor	Vitamin A(DB00162)						38.0	39.0	39.0					10																	48389779		2203	4300	6503	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48389779C>T	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.1099G>A	10.37:g.48389779C>T	ENSP00000224600:p.Asp367Asn						p.D367N	NM_002900	NP_002891	P10745	RET3_HUMAN			1	1213	-			367			4 X approximate tandem repeats.|2.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.1099G>A	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.793438	0.50102	.	.	ENSG00000107618	ENST00000224600	T	0.66995	-0.24	5.43	5.43	0.79202	.	0.168553	0.48767	D	0.000172	D	0.82600	0.5072	H	0.95224	3.64	0.38618	D	0.951075	D	0.57571	0.98	P	0.49829	0.623	D	0.89504	0.3766	10	0.87932	D	0	-18.3138	18.2231	0.89907	0.0:1.0:0.0:0.0	.	367	P10745	RET3_HUMAN	N	367	ENSP00000224600:D367N	ENSP00000224600:D367N	D	-	1	0	RBP3	48009785	0.993000	0.37304	0.037000	0.18230	0.470000	0.32858	2.784000	0.47774	2.571000	0.86741	0.561000	0.74099	GAT		0.632	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1		NM_002900		14	33	0	0	0	0.001855	0	14	33		
RBP3	5949	broad.mit.edu	37	10	48389782	48389782	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:48389782C>T	ENST00000224600.4	-	1	1209	c.1096G>A	c.(1096-1098)Gaa>Aaa	p.E366K	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	366	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	ACCAGATCTTCCTCGGAGACC	0.627																																						uc001jez.2		NaN																	0				large_intestine(1)|central_nervous_system(1)	2						c.(1096-1098)GAA>AAA		retinol-binding protein 3 precursor	Vitamin A(DB00162)						38.0	39.0	39.0					10																	48389782		2203	4300	6503	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48389782C>T	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.1096G>A	10.37:g.48389782C>T	ENSP00000224600:p.Glu366Lys						p.E366K	NM_002900	NP_002891	P10745	RET3_HUMAN			1	1210	-			366			4 X approximate tandem repeats.|2.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.1096G>A	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.767039	0.69878	.	.	ENSG00000107618	ENST00000224600	T	0.68181	-0.31	5.43	5.43	0.79202	.	0.255479	0.36893	N	0.002342	T	0.81182	0.4769	H	0.94264	3.515	0.58432	D	0.999999	D	0.57899	0.981	P	0.48270	0.572	D	0.86518	0.1814	10	0.54805	T	0.06	-14.1866	18.2231	0.89907	0.0:1.0:0.0:0.0	.	366	P10745	RET3_HUMAN	K	366	ENSP00000224600:E366K	ENSP00000224600:E366K	E	-	1	0	RBP3	48009788	1.000000	0.71417	0.078000	0.20375	0.415000	0.31203	4.403000	0.59729	2.571000	0.86741	0.561000	0.74099	GAA		0.627	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1		NM_002900		15	31	0	0	0	0.00245	0	15	31		
RHOBTB1	9886	broad.mit.edu	37	10	62631954	62631954	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:62631954G>A	ENST00000337910.5	-	10	2247	c.1910C>T	c.(1909-1911)tCa>tTa	p.S637L	RHOBTB1_ENST00000490827.1_5'UTR|RHOBTB1_ENST00000357917.4_Missense_Mutation_p.S637L	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	637					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					TGCAGATTTTGATTTGATTTC	0.493																																						uc001jli.2		NaN																	0				upper_aerodigestive_tract(1)	1						c.(1909-1911)TCA>TTA		Rho-related BTB domain containing 1							149.0	140.0	143.0					10																	62631954		2203	4300	6503	SO:0001583	missense	9886				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr10:62631954G>A	AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"""BTB/POZ domain containing"""	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.1910C>T	10.37:g.62631954G>A	ENSP00000338671:p.Ser637Leu					RHOBTB1_uc001jlh.2_Missense_Mutation_p.S637L|RHOBTB1_uc001jlj.2_Missense_Mutation_p.S637L|RHOBTB1_uc001jlk.2_Missense_Mutation_p.S637L|RHOBTB1_uc009xpe.1_Missense_Mutation_p.S575L|RHOBTB1_uc009xpd.2_Intron|RHOBTB1_uc001jll.2_Missense_Mutation_p.S387L	p.S637L	NM_014836	NP_055651	O94844	RHBT1_HUMAN			11	2348	-	Prostate(12;0.0112)		637						Missense_Mutation	SNP	ENST00000337910.5	37	c.1910C>T	CCDS7261.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274464	0.59649	.	.	ENSG00000072422	ENST00000357917;ENST00000337910	T;T	0.14391	2.51;2.51	5.45	5.45	0.79879	.	0.083719	0.49916	D	0.000135	T	0.08088	0.0202	N	0.04203	-0.255	0.50813	D	0.999899	B	0.19331	0.035	B	0.14578	0.011	T	0.37079	-0.9721	10	0.19590	T	0.45	.	19.2756	0.94030	0.0:0.0:1.0:0.0	.	637	O94844	RHBT1_HUMAN	L	637	ENSP00000350595:S637L;ENSP00000338671:S637L	ENSP00000338671:S637L	S	-	2	0	RHOBTB1	62301960	1.000000	0.71417	0.986000	0.45419	0.976000	0.68499	9.864000	0.99589	2.563000	0.86464	0.561000	0.74099	TCA		0.493	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048220.1				23	72	0	0	0	0.014323	0	23	72		
VPS26A	9559	broad.mit.edu	37	10	70930917	70930917	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:70930917A>G	ENST00000373382.1	+	10	1529	c.876A>G	c.(874-876)atA>atG	p.I292M	VPS26A_ENST00000263559.6_Missense_Mutation_p.I292M|VPS26A_ENST00000546041.1_Missense_Mutation_p.I275M|VPS26A_ENST00000489794.1_Missense_Mutation_p.N220D|VPS26A_ENST00000395098.1_Missense_Mutation_p.N245D|VPS26A_ENST00000490696.1_3'UTR|VPS26A_ENST00000541711.1_Missense_Mutation_p.I181M			O75436	VP26A_HUMAN	vacuolar protein sorting 26 homolog A (S. pombe)	292					retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|vesicle (GO:0031982)	protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)	8						ACTAGGAGATAATTTTATGGA	0.338																																					Colon(90;545 1358 4729 6702 16773)	uc001jpb.2		NaN																	0					0						c.(874-876)ATA>ATG		vacuolar protein sorting 26 A isoform 1							53.0	60.0	58.0					10																	70930917		2201	4300	6501	SO:0001583	missense	9559				retrograde transport, endosome to Golgi|vacuolar transport	cytosol|endosome membrane|retromer complex|vesicle	protein binding|protein transporter activity	g.chr10:70930917A>G	AF054179	CCDS7286.1, CCDS41536.1	10q21.1	2007-01-12	2007-01-12	2005-10-11	ENSG00000122958	ENSG00000122958			12711	protein-coding gene	gene with protein product		605506	"""vacuolar protein sorting 26 (yeast homolog)"", ""vacuolar protein sorting 26 (yeast)"", ""vacuolar protein sorting 26 homolog A (yeast)"""	VPS26		1638986, 9653160	Standard	NM_004896		Approved	Hbeta58, PEP8A	uc001jpb.3	O75436	OTTHUMG00000018376	ENST00000373382.1:c.876A>G	10.37:g.70930917A>G	ENSP00000362480:p.Ile292Met					VPS26A_uc001jpc.2_Missense_Mutation_p.N245D|VPS26A_uc009xqa.2_Missense_Mutation_p.I285M|VPS26A_uc001jpd.2_Missense_Mutation_p.I181M	p.I292M	NM_004896	NP_004887	O75436	VP26A_HUMAN			9	1002	+			292					A8MZ56|B2RDD3|Q8TBH4|Q9H982	Missense_Mutation	SNP	ENST00000373382.1	37	c.876A>G	CCDS7286.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.74|10.74	1.436417|1.436417	0.25813|0.25813	.|.	.|.	ENSG00000122958|ENSG00000122958	ENST00000373382;ENST00000263559;ENST00000546041;ENST00000541711|ENST00000395098	.|.	.|.	.|.	5.13|5.13	1.03|1.03	0.20045|0.20045	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.46386|0.46386	0.1390|0.1390	L|L	0.46819|0.46819	1.47|1.47	0.80722|0.80722	D|D	1|1	P;B|B	0.40180|0.12013	0.705;0.378|0.005	P;P|B	0.54238|0.14578	0.746;0.528|0.011	T|T	0.34104|0.34104	-0.9842|-0.9842	9|8	0.62326|0.66056	D|D	0.03|0.02	-25.1252|-25.1252	7.0669|7.0669	0.25157|0.25157	0.3637:0.5037:0.0:0.1325|0.3637:0.5037:0.0:0.1325	.|.	275;292|245	F5H4L7;O75436|A8MZ56	.;VP26A_HUMAN|.	M|D	292;292;275;181|245	.|.	ENSP00000263559:I292M|ENSP00000378532:N245D	I|N	+|+	3|1	3|0	VPS26A|VPS26A	70600923|70600923	0.997000|0.997000	0.39634|0.39634	0.998000|0.998000	0.56505|0.56505	0.816000|0.816000	0.46133|0.46133	0.483000|0.483000	0.22292|0.22292	0.001000|0.001000	0.14605|0.14605	-0.695000|-0.695000	0.03696|0.03696	ATA|AAT		0.338	VPS26A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048403.1		NM_004896		23	64	0	0	0	0.014323	0	23	64		
SUPV3L1	6832	broad.mit.edu	37	10	70940254	70940254	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:70940254G>A	ENST00000359655.4	+	1	267	c.207G>A	c.(205-207)gtG>gtA	p.V69V	SUPV3L1_ENST00000483572.1_3'UTR	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	69					ATP catabolic process (GO:0006200)|chromatin maintenance (GO:0070827)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA surveillance (GO:0035946)|mitochondrial ncRNA surveillance (GO:0035945)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA surveillance (GO:2000827)|mitochondrion morphogenesis (GO:0070584)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|RNA catabolic process (GO:0006401)	mitochondrial degradosome (GO:0045025)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3'-5' RNA helicase activity (GO:0034458)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCCTGACTGTGAAACCTCAGG	0.647																																						uc001jpe.1		NaN																	0				urinary_tract(1)|ovary(1)	2						c.(205-207)GTG>GTA		suppressor of var1, 3-like 1 precursor							56.0	64.0	61.0					10																	70940254		2203	4299	6502	SO:0001819	synonymous_variant	6832				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding	g.chr10:70940254G>A	AF042169	CCDS7287.1	10q22.1	2008-08-01	2001-11-28		ENSG00000156502	ENSG00000156502			11471	protein-coding gene	gene with protein product		605122	"""suppressor of var1 (S.cerevisiae) 3-like 1"""			9925937, 16176273	Standard	XM_005270068		Approved	SUV3	uc001jpe.1	Q8IYB8	OTTHUMG00000018375	ENST00000359655.4:c.207G>A	10.37:g.70940254G>A						SUPV3L1_uc010qjd.1_5'UTR	p.V69V	NM_003171	NP_003162	Q8IYB8	SUV3_HUMAN			1	262	+			69					A8K301|O43630	Silent	SNP	ENST00000359655.4	37	c.207G>A	CCDS7287.1																																																																																				0.647	SUPV3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048396.2		NM_003171		21	95	0	0	0	0.00278	0	21	95		
SUPV3L1	6832	broad.mit.edu	37	10	70967593	70967593	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:70967593G>T	ENST00000359655.4	+	14	1881	c.1821G>T	c.(1819-1821)tgG>tgT	p.W607C		NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	607					ATP catabolic process (GO:0006200)|chromatin maintenance (GO:0070827)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA surveillance (GO:0035946)|mitochondrial ncRNA surveillance (GO:0035945)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA surveillance (GO:2000827)|mitochondrion morphogenesis (GO:0070584)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|RNA catabolic process (GO:0006401)	mitochondrial degradosome (GO:0045025)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3'-5' RNA helicase activity (GO:0034458)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCTTTGCATGGTTACGCCGAT	0.443																																						uc001jpe.1		NaN																	0				urinary_tract(1)|ovary(1)	2						c.(1819-1821)TGG>TGT		suppressor of var1, 3-like 1 precursor							146.0	125.0	132.0					10																	70967593		2203	4300	6503	SO:0001583	missense	6832				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding	g.chr10:70967593G>T	AF042169	CCDS7287.1	10q22.1	2008-08-01	2001-11-28		ENSG00000156502	ENSG00000156502			11471	protein-coding gene	gene with protein product		605122	"""suppressor of var1 (S.cerevisiae) 3-like 1"""			9925937, 16176273	Standard	XM_005270068		Approved	SUV3	uc001jpe.1	Q8IYB8	OTTHUMG00000018375	ENST00000359655.4:c.1821G>T	10.37:g.70967593G>T	ENSP00000352678:p.Trp607Cys					SUPV3L1_uc010qjd.1_Missense_Mutation_p.W476C	p.W607C	NM_003171	NP_003162	Q8IYB8	SUV3_HUMAN			14	1876	+			607					A8K301|O43630	Missense_Mutation	SNP	ENST00000359655.4	37	c.1821G>T	CCDS7287.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.399837	0.83120	.	.	ENSG00000156502	ENST00000359655	T	0.42900	0.96	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.68897	0.3051	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.68557	-0.5377	10	0.35671	T	0.21	0.1337	19.1669	0.93561	0.0:0.0:1.0:0.0	.	607	Q8IYB8	SUV3_HUMAN	C	607	ENSP00000352678:W607C	ENSP00000352678:W607C	W	+	3	0	SUPV3L1	70637599	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.425000	0.97467	2.615000	0.88500	0.650000	0.86243	TGG		0.443	SUPV3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048396.2		NM_003171		9	40	1	0	0.00829132	0.008291	0.00853897	9	40		
FUT11	170384	broad.mit.edu	37	10	75533107	75533107	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:75533107A>T	ENST00000372841.3	+	2	911	c.868A>T	c.(868-870)Aca>Tca	p.T290S	AC022400.2_ENST00000595757.1_5'Flank|RMRPP1_ENST00000517236.1_RNA|FUT11_ENST00000465695.1_3'UTR|FUT11_ENST00000394790.1_Missense_Mutation_p.T290S	NM_173540.2	NP_775811.2	Q495W5	FUT11_HUMAN	fucosyltransferase 11 (alpha (1,3) fucosyltransferase)	290					protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7	Prostate(51;0.0112)					CGACTACATGACAGAAAAACT	0.567																																						uc001jva.2		NaN																	0					0						c.(868-870)ACA>TCA		fucosyltransferase 11 (alpha (1,3)							99.0	96.0	97.0					10																	75533107		2203	4300	6503	SO:0001583	missense	170384				protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr10:75533107A>T	BC036037	CCDS7333.1, CCDS60558.1	10q22.3	2014-01-02			ENSG00000196968	ENSG00000196968		"""Fucosyltransferases"""	19233	protein-coding gene	gene with protein product						11698403, 24318988	Standard	NM_173540		Approved	MGC33202	uc001jva.3	Q495W5	OTTHUMG00000018483	ENST00000372841.3:c.868A>T	10.37:g.75533107A>T	ENSP00000361932:p.Thr290Ser					FUT11_uc001juy.1_Nonstop_Mutation_p.*288C|FUT11_uc001juz.1_Missense_Mutation_p.T290S	p.T290S	NM_173540	NP_775811	Q495W5	FUT11_HUMAN			2	911	+	Prostate(51;0.0112)		290			Lumenal (Potential).		Q495W7|Q8IYE4	Missense_Mutation	SNP	ENST00000372841.3	37	c.868A>T	CCDS7333.1	.	.	.	.	.	.	.	.	.	.	A	33	5.243752	0.95272	.	.	ENSG00000196968	ENST00000372841;ENST00000394790	T;T	0.59502	0.26;0.26	5.05	5.05	0.67936	.	0.092615	0.85682	D	0.000000	T	0.76471	0.3992	M	0.79805	2.47	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73380	0.98;0.967	T	0.80603	-0.1309	10	0.87932	D	0	-12.7974	14.9575	0.71127	1.0:0.0:0.0:0.0	.	290;290	Q495W5;Q495W5-2	FUT11_HUMAN;.	S	290	ENSP00000361932:T290S;ENSP00000378270:T290S	ENSP00000361932:T290S	T	+	1	0	FUT11	75203113	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	9.139000	0.94554	2.110000	0.64415	0.460000	0.39030	ACA		0.567	FUT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048689.1		NM_173540		25	48	0	0	0	0.004656	0	25	48		
ZSWIM8	23053	broad.mit.edu	37	10	75556602	75556602	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:75556602C>T	ENST00000605216.1	+	16	3306	c.3089C>T	c.(3088-3090)tCt>tTt	p.S1030F	ZSWIM8-AS1_ENST00000456638.2_RNA|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.S1035F|ZSWIM8_ENST00000604729.1_Missense_Mutation_p.S1035F|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.S997F|RP11-574K11.31_ENST00000603027.1_3'UTR|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.S1030F	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	1030							zinc ion binding (GO:0008270)										TTCTACTCATCTAGCCGCCCA	0.577																																						uc009xrl.2		NaN																	0				breast(1)	1						c.(3088-3090)TCT>TTT		hypothetical protein LOC23053							70.0	76.0	74.0					10																	75556602		2032	4199	6231	SO:0001583	missense	23053						zinc ion binding	g.chr10:75556602C>T	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.3089C>T	10.37:g.75556602C>T	ENSP00000474748:p.Ser1030Phe					KIAA0913_uc001jve.2_Missense_Mutation_p.S1035F|KIAA0913_uc001jvf.2_Missense_Mutation_p.S1030F|KIAA0913_uc001jvh.2_RNA|KIAA0913_uc001jvi.2_Missense_Mutation_p.S465F|KIAA0913_uc010qkr.1_Missense_Mutation_p.S453F|KIAA0913_uc001jvj.2_Missense_Mutation_p.S453F|KIAA0913_uc009xrn.1_5'Flank	p.S1030F	NM_015037	NP_055852	A7E2V4	K0913_HUMAN			16	3121	+	Prostate(51;0.0112)		1030					B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	ENST00000605216.1	37	c.3089C>T		.	.	.	.	.	.	.	.	.	.	C	20.6	4.010530	0.75046	.	.	ENSG00000214655	ENST00000398706	T	0.46819	0.86	5.3	5.3	0.74995	.	0.183165	0.36665	U	0.002474	T	0.68686	0.3028	M	0.65498	2.005	0.80722	D	1	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.78314	0.991;0.991;0.991;0.991	T	0.71781	-0.4489	10	0.87932	D	0	-5.8431	18.9581	0.92668	0.0:1.0:0.0:0.0	.	1030;1042;1030;1035	A7E2V4;A7E2V4-3;A7E2V4-5;A7E2V4-4	K0913_HUMAN;.;.;.	F	1035	ENSP00000381693:S1035F	ENSP00000381693:S1035F	S	+	2	0	KIAA0913	75226608	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.300000	0.59079	2.482000	0.83794	0.655000	0.94253	TCT		0.577	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1		NM_001242487		14	72	0	0	0	0.00245	0	14	72		
TNKS2	80351	broad.mit.edu	37	10	93605573	93605573	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:93605573C>G	ENST00000371627.4	+	18	2613	c.2234C>G	c.(2233-2235)gCt>gGt	p.A745G		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	745					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				GACAAATGGGCTTTCACACCT	0.433																																						uc001khp.2		NaN																	0				kidney(3)|skin(3)|ovary(1)|lung(1)	8						c.(2233-2235)GCT>GGT		tankyrase, TRF1-interacting ankyrin-related							107.0	96.0	100.0					10																	93605573		2203	4300	6503	SO:0001583	missense	80351				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr10:93605573C>G	AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.2234C>G	10.37:g.93605573C>G	ENSP00000360689:p.Ala745Gly						p.A745G	NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN			18	2531	+		Colorectal(252;0.162)	745			ANK 15.		B2RBD3|Q9H8F2|Q9HAS4	Missense_Mutation	SNP	ENST00000371627.4	37	c.2234C>G	CCDS7417.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.511236	0.27036	.	.	ENSG00000107854	ENST00000371627	T	0.53423	0.62	6.02	6.02	0.97574	Ankyrin repeat-containing domain (3);	0.000000	0.64402	D	0.000011	T	0.09468	0.0233	N	0.00006	-3.205	0.80722	D	1	B	0.06786	0.001	B	0.13407	0.009	T	0.58595	-0.7609	10	0.02654	T	1	.	20.547	0.99278	0.0:1.0:0.0:0.0	.	745	Q9H2K2	TNKS2_HUMAN	G	745	ENSP00000360689:A745G	ENSP00000360689:A745G	A	+	2	0	TNKS2	93595553	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.629000	0.83207	2.850000	0.98022	0.650000	0.86243	GCT		0.433	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1		NM_025235		6	46	0	0	0	0.001168	0	6	46		
BTAF1	9044	broad.mit.edu	37	10	93768614	93768614	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:93768614A>G	ENST00000265990.6	+	27	4150	c.3842A>G	c.(3841-3843)aAt>aGt	p.N1281S	BTAF1_ENST00000544642.1_Missense_Mutation_p.N109S	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1281	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GCATTTCTTAATAAGTATAAA	0.294																																						uc001khr.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(3841-3843)AAT>AGT		BTAF1 RNA polymerase II, B-TFIID transcription							76.0	79.0	78.0					10																	93768614		2203	4300	6503	SO:0001583	missense	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93768614A>G	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.3842A>G	10.37:g.93768614A>G	ENSP00000265990:p.Asn1281Ser						p.N1281S	NM_003972	NP_003963	O14981	BTAF1_HUMAN			27	3940	+		Colorectal(252;0.0846)	1281			Helicase ATP-binding.		B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	37	c.3842A>G	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.328598	0.81690	.	.	ENSG00000095564	ENST00000265990;ENST00000544642;ENST00000538688	D;D	0.92699	-3.09;-3.09	5.43	5.43	0.79202	DEAD-like helicase (2);Armadillo-like helical (1);SNF2-related (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.92146	0.7510	L	0.31371	0.925	0.80722	D	1	D	0.56746	0.977	P	0.61722	0.893	D	0.91719	0.5387	10	0.38643	T	0.18	-23.1872	14.3572	0.66745	1.0:0.0:0.0:0.0	.	1281	O14981	BTAF1_HUMAN	S	1281;109;131	ENSP00000265990:N1281S;ENSP00000439924:N109S	ENSP00000265990:N1281S	N	+	2	0	BTAF1	93758594	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.287000	0.95975	2.180000	0.69256	0.528000	0.53228	AAT		0.294	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4		NM_003972		9	42	0	0	0	0.001855	0	9	42		
EXOC6	54536	broad.mit.edu	37	10	94757304	94757304	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:94757304A>G	ENST00000260762.6	+	19	2041	c.2027A>G	c.(2026-2028)gAc>gGc	p.D676G	EXOC6_ENST00000371552.4_Missense_Mutation_p.D671G|EXOC6_ENST00000371547.4_Missense_Mutation_p.D692G|EXOC6_ENST00000443748.2_Missense_Mutation_p.D573G	NM_019053.4	NP_061926.3	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	676					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				ATGCTACTGGACAGTGAGTTA	0.378																																						uc001kig.2		NaN																	0				skin(1)	1						c.(2026-2028)GAC>GGC		SEC15-like 1 isoform a							137.0	128.0	131.0					10																	94757304		2203	4300	6503	SO:0001583	missense	54536				protein transport|vesicle docking involved in exocytosis	exocyst		g.chr10:94757304A>G	BC028395	CCDS7424.2, CCDS31247.1	10q23.33	2013-01-22	2006-11-07	2006-11-07	ENSG00000138190	ENSG00000138190			23196	protein-coding gene	gene with protein product		609672	"""SEC15-like 1 (S. cerevisiae)"""	SEC15L1		8889548	Standard	NM_001013848		Approved	SEC15L, FLJ1125, DKFZp761I2124, MGC33397, Sec15p, EXOC6A	uc001kig.3	Q8TAG9	OTTHUMG00000018767	ENST00000260762.6:c.2027A>G	10.37:g.94757304A>G	ENSP00000260762:p.Asp676Gly					EXOC6_uc010qnr.1_Missense_Mutation_p.D692G|EXOC6_uc001kie.2_Missense_Mutation_p.D671G|EXOC6_uc009xub.2_Missense_Mutation_p.D675G|EXOC6_uc009xuc.2_Missense_Mutation_p.D573G|EXOC6_uc001kih.2_RNA|EXOC6_uc001kii.2_Missense_Mutation_p.D250G	p.D676G	NM_019053	NP_061926	Q8TAG9	EXOC6_HUMAN			19	2093	+		Colorectal(252;0.123)	676					E9PHI3|Q5VXH8|Q9NZ24	Missense_Mutation	SNP	ENST00000260762.6	37	c.2027A>G	CCDS7424.2	.	.	.	.	.	.	.	.	.	.	A	17.84	3.487143	0.63962	.	.	ENSG00000138190	ENST00000371547;ENST00000371552;ENST00000443748;ENST00000260762;ENST00000458552	T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44	4.99	4.99	0.66335	.	0.092000	0.64402	D	0.000001	T	0.51007	0.1649	M	0.63428	1.95	0.80722	D	1	B;D;P;P;B;B	0.56746	0.275;0.977;0.604;0.883;0.139;0.224	B;D;P;P;B;B	0.65323	0.314;0.934;0.517;0.79;0.122;0.305	T	0.53606	-0.8415	10	0.62326	D	0.03	-11.223	14.9824	0.71321	1.0:0.0:0.0:0.0	.	692;573;668;629;676;671	F2Z2Q3;E7EW84;B4DEZ1;B2RDH5;Q8TAG9;E9PHI3	.;.;.;.;EXOC6_HUMAN;.	G	692;671;573;676;25	ENSP00000360602:D692G;ENSP00000360607:D671G;ENSP00000396206:D573G;ENSP00000260762:D676G;ENSP00000398982:D25G	ENSP00000260762:D676G	D	+	2	0	EXOC6	94747284	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.283000	0.95860	2.004000	0.58718	0.528000	0.53228	GAC		0.378	EXOC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049410.2		NM_019053		7	41	0	0	0	0.001984	0	7	41		
MYOF	26509	broad.mit.edu	37	10	95113570	95113570	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:95113570G>A	ENST00000359263.4	-	32	3478	c.3479C>T	c.(3478-3480)tCa>tTa	p.S1160L	MYOF_ENST00000371501.4_Missense_Mutation_p.S1160L|MYOF_ENST00000371502.4_Missense_Mutation_p.S1160L|MYOF_ENST00000358334.5_Missense_Mutation_p.S1147L	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1160	C2 4. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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						TCCTTTACCTGAAAAGCTATC	0.353																																						uc001kin.2		NaN																	0				ovary(3)|breast(1)	4						c.(3478-3480)TCA>TTA		myoferlin isoform a							137.0	132.0	134.0					10																	95113570		1860	4102	5962	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.chr10:95113570G>A	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.3479C>T	10.37:g.95113570G>A	ENSP00000352208:p.Ser1160Leu					MYOF_uc001kio.2_Missense_Mutation_p.S1147L|MYOF_uc009xue.2_RNA	p.S1160L	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN			32	3602	-			1160			Cytoplasmic (Potential).|C2 4.		B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	37	c.3479C>T	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	G	34	5.355861	0.95854	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73	5.95	5.95	0.96441	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	D	0.89480	0.6727	H	0.94698	3.57	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.982;0.999	D	0.91316	0.5078	10	0.87932	D	0	-22.929	20.3789	0.98926	0.0:0.0:1.0:0.0	.	1147;1160	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	L	1147;1160;1160;1160	ENSP00000351094:S1147L;ENSP00000352208:S1160L;ENSP00000360556:S1160L;ENSP00000360557:S1160L	ENSP00000351094:S1147L	S	-	2	0	MYOF	95103560	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.771000	0.98977	2.826000	0.97356	0.563000	0.77884	TCA		0.353	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2		NM_013451		24	77	0	0	0	0.005443	0	24	77		
DNTT	1791	broad.mit.edu	37	10	98079103	98079103	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:98079103T>C	ENST00000371174.2	+	3	565	c.463T>C	c.(463-465)Tgt>Cgt	p.C155R	DNTT_ENST00000419175.1_Missense_Mutation_p.C155R			P04053	TDT_HUMAN	DNA nucleotidylexotransferase	155	Mediates interaction with DNTTIP2.				DNA modification (GO:0006304)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA nucleotidylexotransferase activity (GO:0003912)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		CCAGTATGCGTGTCAGAGAAG	0.458																																						uc001kmf.2		NaN																	0				ovary(1)	1						c.(463-465)TGT>CGT		terminal deoxynucleotidyltransferase isoform 1							166.0	162.0	164.0					10																	98079103		2203	4300	6503	SO:0001583	missense	1791				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	g.chr10:98079103T>C	AB046378	CCDS7447.1	10q23-q24	2013-05-21	2013-05-21		ENSG00000107447	ENSG00000107447	2.7.7.31	"""DNA polymerases"""	2983	protein-coding gene	gene with protein product	"""Terminal deoxynucleotidyltransferase"""	187410	"""deoxynucleotidyltransferase, terminal"""				Standard	NM_004088		Approved	TDT	uc001kmf.3	P04053	OTTHUMG00000018832	ENST00000371174.2:c.463T>C	10.37:g.98079103T>C	ENSP00000360216:p.Cys155Arg					DNTT_uc001kmg.2_Missense_Mutation_p.C155R	p.C155R	NM_004088	NP_004079	P04053	TDT_HUMAN		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)	3	633	+		Colorectal(252;0.0815)|all_hematologic(284;0.224)	155			Mediates interaction with DNTTIP2.		Q53FH1|Q5W103|Q96E50	Missense_Mutation	SNP	ENST00000371174.2	37	c.463T>C	CCDS7447.1	.	.	.	.	.	.	.	.	.	.	T	19.85	3.903071	0.72754	.	.	ENSG00000107447	ENST00000419175;ENST00000371174	T;T	0.57436	0.4;0.4	5.46	5.46	0.80206	DNA-directed DNA polymerase, family X, beta-like, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.74794	0.3763	M	0.86740	2.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79505	-0.1776	10	0.87932	D	0	-2.6303	12.2077	0.54361	0.0:0.0:0.0:1.0	.	155;155	P04053-2;P04053	.;TDT_HUMAN	R	155	ENSP00000401169:C155R;ENSP00000360216:C155R	ENSP00000360216:C155R	C	+	1	0	DNTT	98069093	1.000000	0.71417	0.809000	0.32408	0.952000	0.60782	5.025000	0.64097	2.187000	0.69744	0.533000	0.62120	TGT		0.458	DNTT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049607.1		NM_004088		31	120	0	0	0	0.003271	0	31	120		
SEC31B	25956	broad.mit.edu	37	10	102256971	102256971	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:102256971T>C	ENST00000370345.3	-	17	2154	c.2057A>G	c.(2056-2058)tAt>tGt	p.Y686C	SEC31B_ENST00000494350.1_5'Flank	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	686					protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		TGAGCACACATAACAGAGTCT	0.567																																						uc001krc.1		NaN																	0				ovary(1)	1						c.(2056-2058)TAT>TGT		SEC31 homolog B							88.0	81.0	84.0					10																	102256971		2203	4300	6503	SO:0001583	missense	25956				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane		g.chr10:102256971T>C	AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"""WD repeat domain containing"""	23197	protein-coding gene	gene with protein product		610258	"""SEC31-like 2 (S. cerevisiae)"""	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.2057A>G	10.37:g.102256971T>C	ENSP00000359370:p.Tyr686Cys					SEC31B_uc010qpo.1_Missense_Mutation_p.Y685C|SEC31B_uc001krd.1_Missense_Mutation_p.Y223C|SEC31B_uc001krf.1_Missense_Mutation_p.Y223C|SEC31B_uc001kre.1_Missense_Mutation_p.Y223C|SEC31B_uc001krg.1_Missense_Mutation_p.Y255C	p.Y686C	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)	17	2159	-		Colorectal(252;0.117)	686			WD 7.		B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Missense_Mutation	SNP	ENST00000370345.3	37	c.2057A>G	CCDS7495.1	.	.	.	.	.	.	.	.	.	.	t	19.53	3.845689	0.71603	.	.	ENSG00000075826	ENST00000370345	T	0.78481	-1.18	5.07	5.07	0.68467	.	0.056071	0.64402	D	0.000001	D	0.90307	0.6968	M	0.92970	3.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.92578	0.6072	10	0.87932	D	0	-9.8338	14.0495	0.64727	0.0:0.0:0.0:1.0	.	685;686	Q9NQW1-5;Q9NQW1	.;SC31B_HUMAN	C	686	ENSP00000359370:Y686C	ENSP00000359370:Y686C	Y	-	2	0	SEC31B	102246961	1.000000	0.71417	0.985000	0.45067	0.978000	0.69477	5.989000	0.70587	1.939000	0.56221	0.439000	0.28862	TAT		0.567	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1		NM_015490		14	53	0	0	0	0.007413	0	14	53		
LDB1	8861	broad.mit.edu	37	10	103868023	103868023	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:103868023C>T	ENST00000425280.1	-	11	1405	c.1063G>A	c.(1063-1065)Gag>Aag	p.E355K	LDB1_ENST00000490751.1_5'Flank|LDB1_ENST00000361198.5_Missense_Mutation_p.E319K	NM_001113407.1	NP_001106878.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	355	LIM-binding domain (LID). {ECO:0000250}.				anterior/posterior axis specification (GO:0009948)|cellular component assembly (GO:0022607)|cerebellar Purkinje cell differentiation (GO:0021702)|epithelial structure maintenance (GO:0010669)|gastrulation with mouth forming second (GO:0001702)|hair follicle development (GO:0001942)|head development (GO:0060322)|histone H3-K4 acetylation (GO:0043973)|multicellular organismal development (GO:0007275)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|positive regulation of cell adhesion (GO:0045785)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery (GO:0000972)|Wnt signaling pathway (GO:0016055)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|enzyme binding (GO:0019899)|LIM domain binding (GO:0030274)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		ATGAGCCTCTCGTCCTCGTCC	0.622																																						uc009xwz.2		NaN																	0				large_intestine(1)	1						c.(1063-1065)GAG>AAG		LIM domain binding 1 isoform 1							126.0	94.0	105.0					10																	103868023		2203	4300	6503	SO:0001583	missense	8861				histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity	g.chr10:103868023C>T	AF068652	CCDS7528.1, CCDS44472.1	10q24-q25	2008-08-01			ENSG00000198728	ENSG00000198728			6532	protein-coding gene	gene with protein product	"""carboxy terminal LIM domain protein 2"""	603451				9503020, 9799849	Standard	NM_003893		Approved	NLI, CLIM2	uc009xwz.3	Q86U70	OTTHUMG00000018950	ENST00000425280.1:c.1063G>A	10.37:g.103868023C>T	ENSP00000392466:p.Glu355Lys					LDB1_uc001kuk.3_Missense_Mutation_p.E319K	p.E355K	NM_001113407	NP_001106878	Q86U70	LDB1_HUMAN		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)	11	1406	-		Colorectal(252;0.122)	355			LIM-binding domain (LID) (By similarity).		B4DUC4|O75479|O96010|Q1EQX1|Q9UGM4	Missense_Mutation	SNP	ENST00000425280.1	37	c.1063G>A	CCDS44472.1	.	.	.	.	.	.	.	.	.	.	C	36	5.678595	0.96764	.	.	ENSG00000198728	ENST00000361198;ENST00000425280	T;T	0.30182	1.54;1.54	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.60715	0.2290	M	0.85462	2.755	0.80722	D	1	D	0.63046	0.992	P	0.62649	0.905	T	0.65483	-0.6157	10	0.87932	D	0	-2.6664	19.6346	0.95724	0.0:1.0:0.0:0.0	.	355	Q86U70	LDB1_HUMAN	K	319;355	ENSP00000354616:E319K;ENSP00000392466:E355K	ENSP00000354616:E319K	E	-	1	0	LDB1	103858013	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.742000	0.94016	0.455000	0.32223	GAG		0.622	LDB1-201	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_001113407		12	45	0	0	0	0.001855	0	12	45		
COL17A1	1308	broad.mit.edu	37	10	105802183	105802183	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:105802183T>C	ENST00000353479.5	-	36	2836	c.2546A>G	c.(2545-2547)cAt>cGt	p.H849R	COL17A1_ENST00000369733.3_Missense_Mutation_p.H849R	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	849	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CATACCTTGATGTCCTGGGAG	0.537																																						uc001kxr.2		NaN																	0				ovary(4)|pancreas(1)	5						c.(2545-2547)CAT>CGT		alpha 1 type XVII collagen							78.0	74.0	75.0					10																	105802183		2203	4300	6503	SO:0001583	missense	1308				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	g.chr10:105802183T>C	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.2546A>G	10.37:g.105802183T>C	ENSP00000340937:p.His849Arg						p.H849R	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	36	2715	-		Colorectal(252;0.103)|Breast(234;0.122)	849			Extracellular (Potential).|Triple-helical region.		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	ENST00000353479.5	37	c.2546A>G	CCDS7554.1	.	.	.	.	.	.	.	.	.	.	T	6.258	0.415800	0.11870	.	.	ENSG00000065618	ENST00000353479;ENST00000369733	D;D	0.93189	-3.18;-3.18	6.17	3.82	0.43975	.	0.161260	0.28927	N	0.013684	T	0.78972	0.4368	N	0.01522	-0.82	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.65076	-0.6256	10	0.15499	T	0.54	-0.6188	8.8722	0.35323	0.1241:0.0:0.1309:0.7451	.	849	Q9UMD9	COHA1_HUMAN	R	849	ENSP00000340937:H849R;ENSP00000358748:H849R	ENSP00000340937:H849R	H	-	2	0	COL17A1	105792173	1.000000	0.71417	1.000000	0.80357	0.603000	0.37013	2.568000	0.45965	0.179000	0.19938	-1.255000	0.01485	CAT		0.537	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1		NM_130778, NM_000494		8	40	0	0	0	0.006214	0	8	40		
PDCD4	27250	broad.mit.edu	37	10	112641080	112641080	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:112641080A>G	ENST00000280154.7	+	3	407	c.133A>G	c.(133-135)Att>Gtt	p.I45V	PDCD4_ENST00000393104.2_Missense_Mutation_p.I34V	NM_001199492.1|NM_014456.4	NP_001186421.1|NP_055271.2	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	45					apoptotic process (GO:0006915)|cell aging (GO:0007569)|negative regulation of cell cycle (GO:0045786)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		TGGAAATTGGATTTCAGCATC	0.413																																					Ovarian(115;1498 1603 9363 40056 40885)	uc001kzh.2		NaN																	0				ovary(1)|breast(1)|skin(1)	3						c.(133-135)ATT>GTT		programmed cell death 4 isoform 1							98.0	107.0	104.0					10																	112641080		2203	4300	6503	SO:0001583	missense	27250				apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding	g.chr10:112641080A>G	U83908	CCDS7567.1, CCDS44478.1	10q24	2008-08-01			ENSG00000150593	ENSG00000150593			8763	protein-coding gene	gene with protein product	"""nuclear antigen H731"""	608610				9759869	Standard	NM_014456		Approved	H731	uc001kzh.3	Q53EL6	OTTHUMG00000019048	ENST00000280154.7:c.133A>G	10.37:g.112641080A>G	ENSP00000280154:p.Ile45Val					PDCD4_uc001kzg.2_Missense_Mutation_p.I34V|PDCD4_uc010qre.1_Missense_Mutation_p.I31V	p.I45V	NM_014456	NP_055271	Q53EL6	PDCD4_HUMAN		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)	3	376	+		Breast(234;0.0848)|Lung NSC(174;0.238)	45					B2RCV4|B5ME91|O15501|Q5VZS6|Q6PJI5|Q8TAR5|Q99834	Missense_Mutation	SNP	ENST00000280154.7	37	c.133A>G	CCDS7567.1	.	.	.	.	.	.	.	.	.	.	A	6.467	0.454312	0.12283	.	.	ENSG00000150593	ENST00000280154;ENST00000393104;ENST00000444997	T;T;T	0.29397	1.6;1.6;1.57	5.63	5.63	0.86233	.	0.405610	0.29059	N	0.013270	T	0.16214	0.0390	N	0.19112	0.55	0.42077	D	0.991238	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.09907	-1.0653	10	0.06625	T	0.88	-17.3387	8.5376	0.33373	0.8554:0.0:0.1446:0.0	.	31;45;34	B4DKX4;Q53EL6;B5ME91	.;PDCD4_HUMAN;.	V	45;34;31	ENSP00000280154:I45V;ENSP00000376816:I34V;ENSP00000394668:I31V	ENSP00000280154:I45V	I	+	1	0	PDCD4	112631070	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.355000	0.52262	2.261000	0.74972	0.477000	0.44152	ATT		0.413	PDCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050361.1		NM_014456		23	88	0	0	0	0.00278	0	23	88		
SHOC2	8036	broad.mit.edu	37	10	112771502	112771502	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:112771502C>G	ENST00000369452.4	+	9	2020	c.1675C>G	c.(1675-1677)Cag>Gag	p.Q559E	SHOC2_ENST00000265277.5_Missense_Mutation_p.Q513E	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	559					fibroblast growth factor receptor signaling pathway (GO:0008543)|positive regulation of Ras protein signal transduction (GO:0046579)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase binding (GO:0019903)|protein phosphatase regulator activity (GO:0019888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		CCTTCCACCTCAGATTGTTGC	0.488																																						uc001kzl.3		NaN																	0				ovary(1)|skin(1)	2						c.(1675-1677)CAG>GAG		soc-2 suppressor of clear homolog							112.0	106.0	108.0					10																	112771502		2203	4300	6503	SO:0001583	missense	8036				fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity	g.chr10:112771502C>G	AB020669	CCDS7568.1, CCDS58095.1	10q25	2014-09-17	2001-11-28		ENSG00000108061	ENSG00000108061			15454	protein-coding gene	gene with protein product		602775	"""soc-2 (suppressor of clear, C.elegans) homolog"""			9618511, 9674433, 10783161	Standard	NM_007373		Approved	KIAA0862, SOC2, SUR-8, SOC-2, SUR8	uc001kzl.4	Q9UQ13	OTTHUMG00000019047	ENST00000369452.4:c.1675C>G	10.37:g.112771502C>G	ENSP00000358464:p.Gln559Glu					SHOC2_uc009xxx.2_Missense_Mutation_p.Q559E|SHOC2_uc010qrg.1_Missense_Mutation_p.Q198E|SHOC2_uc001kzn.2_Missense_Mutation_p.Q513E	p.Q559E	NM_007373	NP_031399	Q9UQ13	SHOC2_HUMAN		Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)	9	2024	+			559			LRR 20.		A8K9W8|B3KR23|O76063|Q5VZS8|Q5VZS9	Missense_Mutation	SNP	ENST00000369452.4	37	c.1675C>G	CCDS7568.1	.	.	.	.	.	.	.	.	.	.	C	9.708	1.156244	0.21454	.	.	ENSG00000108061	ENST00000265277;ENST00000369452;ENST00000451838	T;T;D	0.82803	1.7;1.49;-1.65	5.64	5.64	0.86602	.	0.159960	0.64402	D	0.000018	T	0.48660	0.1512	N	0.00132	-2.035	0.80722	D	1	B;B	0.31227	0.314;0.007	B;B	0.26310	0.068;0.001	T	0.68534	-0.5383	10	0.02654	T	1	.	19.6912	0.96002	0.0:1.0:0.0:0.0	.	513;559	Q9UQ13-2;Q9UQ13	.;SHOC2_HUMAN	E	513;559;349	ENSP00000265277:Q513E;ENSP00000358464:Q559E;ENSP00000408275:Q349E	ENSP00000265277:Q513E	Q	+	1	0	SHOC2	112761492	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.768000	0.85345	2.641000	0.89580	0.655000	0.94253	CAG		0.488	SHOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050355.1		NM_007373		36	58	0	0	0	0.005524	0	36	58		
RAB11FIP2	22841	broad.mit.edu	37	10	119799820	119799820	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:119799820C>T	ENST00000355624.3	-	2	1049	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	RP11-354M20.3_ENST00000417968.4_RNA|RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.E204K|RP11-354M20.3_ENST00000451610.2_RNA	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	204					establishment of cell polarity (GO:0030010)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		ATCTGTATTTCACCACTTGAA	0.413																																						uc001ldj.1		NaN																	0					0						c.(610-612)GAA>AAA		RAB11 family interacting protein 2							176.0	179.0	178.0					10																	119799820		2203	4299	6502	SO:0001583	missense	22841				protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity	g.chr10:119799820C>T	AY037299	CCDS7602.1	10q26.12	2004-07-22			ENSG00000107560	ENSG00000107560			29152	protein-coding gene	gene with protein product		608599				11994279, 10231032	Standard	NM_014904		Approved	KIAA0941, nRip11, Rab11-FIP2	uc001ldj.2	Q7L804	OTTHUMG00000019128	ENST00000355624.3:c.610G>A	10.37:g.119799820C>T	ENSP00000347839:p.Glu204Lys					RAB11FIP2_uc009xyz.1_Missense_Mutation_p.E204K	p.E204K	NM_014904	NP_055719	Q7L804	RFIP2_HUMAN		all cancers(201;0.0238)	2	1050	-		Colorectal(252;0.235)	204					A6NEI4|Q3I768|Q9Y2F0	Missense_Mutation	SNP	ENST00000355624.3	37	c.610G>A	CCDS7602.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.004011	0.35320	.	.	ENSG00000107560	ENST00000355624;ENST00000369199	T;T	0.65732	-0.17;-0.16	5.41	5.41	0.78517	.	0.265030	0.35615	N	0.003081	T	0.67163	0.2864	L	0.55834	1.745	0.48632	D	0.999686	P;P	0.47302	0.893;0.73	P;B	0.52267	0.694;0.147	T	0.60367	-0.7277	10	0.07813	T	0.8	-11.8025	19.5666	0.95395	0.0:1.0:0.0:0.0	.	204;204	Q3I768;Q7L804	.;RFIP2_HUMAN	K	204	ENSP00000347839:E204K;ENSP00000358200:E204K	ENSP00000347839:E204K	E	-	1	0	RAB11FIP2	119789810	1.000000	0.71417	0.998000	0.56505	0.830000	0.47004	2.875000	0.48491	2.697000	0.92050	0.591000	0.81541	GAA		0.413	RAB11FIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050583.1		NM_014904		35	52	0	0	0	0.003271	0	35	52		
EIF3A	8661	broad.mit.edu	37	10	120802040	120802040	+	Missense_Mutation	SNP	G	G	A	rs369661440		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:120802040G>A	ENST00000369144.3	-	19	3119	c.2992C>T	c.(2992-2994)Ccc>Tcc	p.P998S	EIF3A_ENST00000541549.1_Missense_Mutation_p.P964S	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		ATTCGTCTGGGAGGCCTGTCA	0.572																																						uc001ldu.2		NaN																	0					0						c.(2992-2994)CCC>TCC		eukaryotic translation initiation factor 3,		G	SER/PRO	1,4405	2.1+/-5.4	0,1,2202	215.0	175.0	189.0		2992	6.2	0.9	10		189	0,8600		0,0,4300	no	missense	EIF3A	NM_003750.2	74	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	998/1383	120802040	1,13005	2203	4300	6503	SO:0001583	missense	8661				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	g.chr10:120802040G>A	U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.2992C>T	10.37:g.120802040G>A	ENSP00000358140:p.Pro998Ser					EIF3A_uc010qsu.1_Missense_Mutation_p.P964S|EIF3A_uc009xzg.1_Missense_Mutation_p.P37S	p.P998S	NM_003750	NP_003741	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	19	3138	-		Lung NSC(174;0.094)|all_lung(145;0.123)	998			Asp-rich.|8.|25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].		B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	ENST00000369144.3	37	c.2992C>T	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.862728	0.51482	2.27E-4	0.0	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.22134	1.97;1.98	6.17	6.17	0.99709	.	0.000000	0.39146	N	0.001444	T	0.29652	0.0740	L	0.41236	1.265	0.53688	D	0.999978	D;B	0.63046	0.992;0.061	P;B	0.51657	0.676;0.045	T	0.00581	-1.1660	10	0.15499	T	0.54	-0.5096	20.8794	0.99867	0.0:0.0:1.0:0.0	.	964;998	F5H335;Q14152	.;EIF3A_HUMAN	S	998;964	ENSP00000358140:P998S;ENSP00000438178:P964S	ENSP00000358140:P998S	P	-	1	0	EIF3A	120792030	0.117000	0.22190	0.897000	0.35233	0.604000	0.37047	1.843000	0.39259	2.941000	0.99782	0.655000	0.94253	CCC		0.572	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1		NM_003750		61	94	0	0	0	0.01441	0	61	94		
SEC23IP	11196	broad.mit.edu	37	10	121652347	121652347	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:121652347C>T	ENST00000369075.3	+	1	125	c.53C>T	c.(52-54)tCg>tTg	p.S18L	SEC23IP_ENST00000543134.1_5'UTR	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	18	Interaction with SEC23A.				acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		ACTTCCTCATCGGGCACTAAC	0.627																																						uc001leu.1		NaN																	0				ovary(3)	3						c.(52-54)TCG>TTG		Sec23-interacting protein p125							50.0	44.0	46.0					10																	121652347		2203	4300	6503	SO:0001583	missense	11196				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding	g.chr10:121652347C>T	AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"""Sterile alpha motif (SAM) domain containing"""	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.53C>T	10.37:g.121652347C>T	ENSP00000358071:p.Ser18Leu					SEC23IP_uc010qtc.1_5'UTR	p.S18L	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN		all cancers(201;0.00515)	1	125	+		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)	18			Interaction with SEC23A.		D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	ENST00000369075.3	37	c.53C>T	CCDS7618.1	.	.	.	.	.	.	.	.	.	.	C	11.81	1.751150	0.31046	.	.	ENSG00000107651	ENST00000369075	D	0.97089	-4.24	6.04	5.15	0.70609	.	0.523354	0.21797	N	0.068977	D	0.94215	0.8143	L	0.40543	1.245	0.26774	N	0.96974	B	0.11235	0.004	B	0.04013	0.001	D	0.89136	0.3513	10	0.72032	D	0.01	-3.4142	11.2722	0.49147	0.0:0.8037:0.1275:0.0688	.	18	Q9Y6Y8	S23IP_HUMAN	L	18	ENSP00000358071:S18L	ENSP00000358071:S18L	S	+	2	0	SEC23IP	121642337	0.968000	0.33430	0.847000	0.33407	0.011000	0.07611	1.802000	0.38853	1.576000	0.49790	0.563000	0.77884	TCG		0.627	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1				8	25	0	0	0	0.00308	0	8	25		
SEC23IP	11196	broad.mit.edu	37	10	121671610	121671610	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:121671610G>A	ENST00000369075.3	+	6	1318	c.1246G>A	c.(1246-1248)Gat>Aat	p.D416N	SEC23IP_ENST00000543134.1_Missense_Mutation_p.D205N	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	416					acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		CACCACGCAAGATGGACAGAC	0.433																																						uc001leu.1		NaN																	0				ovary(3)	3						c.(1246-1248)GAT>AAT		Sec23-interacting protein p125							213.0	193.0	200.0					10																	121671610		2203	4300	6503	SO:0001583	missense	11196				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding	g.chr10:121671610G>A	AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"""Sterile alpha motif (SAM) domain containing"""	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.1246G>A	10.37:g.121671610G>A	ENSP00000358071:p.Asp416Asn					SEC23IP_uc010qtc.1_Missense_Mutation_p.D205N	p.D416N	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN		all cancers(201;0.00515)	6	1318	+		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)	416					D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	ENST00000369075.3	37	c.1246G>A	CCDS7618.1	.	.	.	.	.	.	.	.	.	.	G	36	5.723045	0.96847	.	.	ENSG00000107651	ENST00000369075;ENST00000543134;ENST00000446561	T;T;T	0.32023	1.47;1.47;1.47	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.55513	0.1925	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.91635	0.999;0.917	T	0.42548	-0.9445	10	0.28530	T	0.3	-27.1395	19.8965	0.96963	0.0:0.0:1.0:0.0	.	205;416	F5H0L8;Q9Y6Y8	.;S23IP_HUMAN	N	416;205;120	ENSP00000358071:D416N;ENSP00000438773:D205N;ENSP00000396906:D120N	ENSP00000358071:D416N	D	+	1	0	SEC23IP	121661600	1.000000	0.71417	0.994000	0.49952	0.968000	0.65278	9.240000	0.95396	2.771000	0.95319	0.563000	0.77884	GAT		0.433	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1				42	63	0	0	0	0.00874	0	42	63		
FGFR2	2263	broad.mit.edu	37	10	123258016	123258016	+	Silent	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:123258016T>C	ENST00000358487.5	-	12	1937	c.1665A>G	c.(1663-1665)acA>acG	p.T555T	FGFR2_ENST00000369061.4_Silent_p.T443T|FGFR2_ENST00000356226.4_Silent_p.T438T|FGFR2_ENST00000478859.1_Silent_p.T327T|FGFR2_ENST00000360144.3_Silent_p.T467T|FGFR2_ENST00000346997.2_Silent_p.T553T|FGFR2_ENST00000457416.2_Silent_p.T556T|FGFR2_ENST00000369059.1_Silent_p.T441T|FGFR2_ENST00000369056.1_Silent_p.T556T|FGFR2_ENST00000369060.4_Silent_p.T439T|FGFR2_ENST00000351936.6_Silent_p.T553T|FGFR2_ENST00000357555.5_Silent_p.T466T	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	555	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	CACCATCCTGTGTGCAGGCTC	0.438		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																													uc010qtk.1		5		Dom	yes		10	10q26	2263	Mis	fibroblast growth factor receptor 2	yes	Crouzon|Pfeiffer|and Apert syndromes	E			gastric. NSCLC|endometrial		0				endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1)	96						c.(1663-1665)ACA>ACG		fibroblast growth factor receptor 2 isoform 1	Palifermin(DB00039)						155.0	138.0	144.0					10																	123258016		2203	4300	6503	SO:0001819	synonymous_variant	2263	Apert_syndrome|Saethre-Chotzen_syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	g.chr10:123258016T>C	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.1665A>G	10.37:g.123258016T>C						FGFR2_uc010qtg.1_Silent_p.T443T|FGFR2_uc010qth.1_Silent_p.T440T|FGFR2_uc010qti.1_Silent_p.T466T|FGFR2_uc010qtj.1_Silent_p.T556T|FGFR2_uc010qtl.1_Silent_p.T439T|FGFR2_uc010qtm.1_Silent_p.T438T|FGFR2_uc001lfl.3_Silent_p.T556T|FGFR2_uc001lfm.2_Silent_p.T467T|FGFR2_uc001lfg.3_Silent_p.T163T	p.T555T	NM_000141	NP_000132	P21802	FGFR2_HUMAN	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	13	2312	-		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	555			Cytoplasmic (Potential).|Protein kinase.		B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Silent	SNP	ENST00000358487.5	37	c.1665A>G	CCDS31298.1																																																																																				0.438	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1		NM_022976, NM_000141		5	43	0	0	0	0.000602	0	5	43		
TACC2	10579	broad.mit.edu	37	10	123845111	123845111	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:123845111G>A	ENST00000369005.1	+	4	3436	c.3096G>A	c.(3094-3096)aaG>aaA	p.K1032K	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Silent_p.K1032K|TACC2_ENST00000515273.1_Silent_p.K1032K|TACC2_ENST00000515603.1_Silent_p.K1032K|TACC2_ENST00000453444.2_Silent_p.K1032K	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1032					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GCTTGAGTAAGAGGGAGATGG	0.582																																						uc001lfv.2		NaN																	0				ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(3094-3096)AAG>AAA		transforming, acidic coiled-coil containing							33.0	37.0	36.0					10																	123845111		2203	4300	6503	SO:0001819	synonymous_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123845111G>A	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.3096G>A	10.37:g.123845111G>A						TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Silent_p.K1032K|TACC2_uc010qtv.1_Silent_p.K1032K	p.K1032K	NM_206862	NP_996744	O95359	TACC2_HUMAN			4	3456	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	1032					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	c.3096G>A	CCDS7626.1																																																																																				0.582	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1				7	47	0	0	0	0.001984	0	7	47		
FAM53B	9679	broad.mit.edu	37	10	126370704	126370704	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:126370704G>A	ENST00000337318.3	-	4	589	c.378C>T	c.(376-378)tgC>tgT	p.C126C	FAM53B_ENST00000280780.6_Silent_p.C126C|RP11-12J10.3_ENST00000494792.1_3'UTR|FAM53B_ENST00000392754.3_Silent_p.C126C	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	126										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		ATGATGTCCGGCAACTGGACA	0.602																																						uc001lhv.1		NaN																	0				ovary(1)|pancreas(1)	2						c.(376-378)TGC>TGT		hypothetical protein LOC9679							30.0	26.0	27.0					10																	126370704		2203	4300	6503	SO:0001819	synonymous_variant	9679							g.chr10:126370704G>A	D50930	CCDS7641.1	10q26.13	2004-11-24	2004-11-24	2004-11-24	ENSG00000189319	ENSG00000189319			28968	protein-coding gene	gene with protein product			"""KIAA0140"""	KIAA0140		8590280	Standard	NM_014661		Approved	bA12J10.2	uc001lhv.1	Q14153	OTTHUMG00000019215	ENST00000337318.3:c.378C>T	10.37:g.126370704G>A						FAM53B_uc001lhu.1_Silent_p.C126C|FAM53B_uc001lhw.2_Silent_p.C126C	p.C126C	NM_014661	NP_055476	Q14153	FA53B_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)	4	901	-		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)	126					D3DRF1|Q5VUW1|Q5VUW2|Q8N5S6	Silent	SNP	ENST00000337318.3	37	c.378C>T	CCDS7641.1																																																																																				0.602	FAM53B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050879.1		NM_014661		3	17	0	0	0	0.004672	0	3	17		
JAKMIP3	282973	broad.mit.edu	37	10	133949530	133949530	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:133949530C>T	ENST00000298622.4	+	5	1204	c.1066C>T	c.(1066-1068)Cgc>Tgc	p.R356C		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	356						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TCATGCTTTACGCCGAATGGA	0.527																																						uc001lkx.3		NaN																	0				breast(1)	1						c.(1066-1068)CGC>TGC		Janus kinase and microtubule interacting protein							67.0	70.0	69.0					10																	133949530		1959	4137	6096	SO:0001583	missense	282973							g.chr10:133949530C>T	AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"""neuroendocrine long coiled-coil 2"""	611198	"""chromosome 10 open reading frame 39"", ""chromosome 10 open reading frame 14"""	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.1066C>T	10.37:g.133949530C>T	ENSP00000298622:p.Arg356Cys						p.R356C	NM_001105521	NP_001098991				OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)	5	1066	+		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)						A6PW00|Q69YM6|Q6ZT29	Missense_Mutation	SNP	ENST00000298622.4	37	c.1066C>T	CCDS44494.1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.519886	0.44866	.	.	ENSG00000188385	ENST00000298622	T	0.26373	1.74	4.05	4.05	0.47172	.	0.133576	0.51477	D	0.000081	T	0.29223	0.0727	L	0.53249	1.67	0.53688	D	0.999975	D	0.58620	0.983	B	0.43052	0.406	T	0.31364	-0.9946	10	0.87932	D	0	-7.2254	16.4311	0.83844	0.0:1.0:0.0:0.0	.	356	Q5VZ66	JKIP3_HUMAN	C	356	ENSP00000298622:R356C	ENSP00000298622:R356C	R	+	1	0	JAKMIP3	133799520	1.000000	0.71417	0.200000	0.23457	0.006000	0.05464	7.213000	0.77950	2.106000	0.64143	0.650000	0.86243	CGC		0.527	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3		NM_194303		15	16	0	0	0	0.003163	0	15	16		
ATHL1	80162	broad.mit.edu	37	11	294604	294604	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:294604C>T	ENST00000409548.2	+	14	2184	c.2069C>T	c.(2068-2070)cCc>cTc	p.P690L	ATHL1_ENST00000409655.1_Missense_Mutation_p.P442L|ATHL1_ENST00000409479.1_Missense_Mutation_p.P717L	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)	690					carbohydrate metabolic process (GO:0005975)		hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CAAATGTCACCCCCGAAGCTG	0.642																																						uc010qvu.1		NaN																	0				liver(1)|central_nervous_system(1)|skin(1)	3						c.(2068-2070)CCC>CTC		ATH1, acid trehalase-like 1							99.0	114.0	109.0					11																	294604		2203	4300	6503	SO:0001583	missense	80162				carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds	g.chr11:294604C>T	AK090428	CCDS31322.2	11p15.5	2005-10-27			ENSG00000142102	ENSG00000142102			26210	protein-coding gene	gene with protein product							Standard	NM_025092		Approved	FLJ22635	uc010qvu.2	Q32M88	OTTHUMG00000153218	ENST00000409548.2:c.2069C>T	11.37:g.294604C>T	ENSP00000387185:p.Pro690Leu					ATHL1_uc001lor.3_Missense_Mutation_p.P442L|ATHL1_uc001lou.3_Missense_Mutation_p.P265L|ATHL1_uc001lov.3_Missense_Mutation_p.P151L	p.P690L	NM_025092	NP_079368	Q32M88	ATHL1_HUMAN		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)	14	2184	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	690					Q658X8|Q8TEG9|Q9H635	Missense_Mutation	SNP	ENST00000409548.2	37	c.2069C>T	CCDS31322.2	.	.	.	.	.	.	.	.	.	.	C	4.992	0.184140	0.09495	.	.	ENSG00000142102	ENST00000409548;ENST00000409655;ENST00000409479	.	.	.	3.54	-0.88	0.10610	.	2.236220	0.01872	N	0.037292	T	0.28863	0.0716	N	0.22421	0.69	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.20806	-1.0264	9	0.49607	T	0.09	.	4.2504	0.10691	0.0:0.4204:0.1991:0.3805	.	690;442	Q32M88;B8ZZ60	ATHL1_HUMAN;.	L	690;442;717	.	ENSP00000387099:P717L	P	+	2	0	ATHL1	284604	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.236000	0.02925	-0.042000	0.13535	0.462000	0.41574	CCC		0.642	ATHL1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330164.3		NM_025092		27	124	0	0	0	0.003954	0	27	124		
HRAS	3265	broad.mit.edu	37	11	534226	534226	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:534226C>T	ENST00000451590.1	-	2	284	c.97G>A	c.(97-99)Gac>Aac	p.D33N	HRAS_ENST00000417302.1_Missense_Mutation_p.D33N|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.D33N|HRAS_ENST00000311189.7_Missense_Mutation_p.D33N|HRAS_ENST00000397596.2_Missense_Mutation_p.D33N	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	33					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)			adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATAGTGGGGTCGTATTCGTCC	0.637		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												uc001lpv.2		6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		rhadomyosarcoma|ganglioneuroblastoma|bladder	infrequent sarcomas|rare other types		0				urinary_tract(174)|thyroid(155)|skin(126)|upper_aerodigestive_tract(112)|soft_tissue(37)|prostate(29)|salivary_gland(24)|cervix(23)|stomach(14)|pituitary(10)|lung(9)|haematopoietic_and_lymphoid_tissue(9)|breast(6)|testis(5)|endometrium(4)|bone(3)|large_intestine(2)|oesophagus(2)|penis(2)|kidney(1)|adrenal_gland(1)|thymus(1)	749						c.(97-99)GAC>AAC		v-Ha-ras Harvey rat sarcoma viral oncogene	Sulindac(DB00605)						119.0	110.0	113.0					11																	534226		2203	4300	6503	SO:0001583	missense	3265	Costello_syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:534226C>T	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.97G>A	11.37:g.534226C>T	ENSP00000407586:p.Asp33Asn	HNSCC(11;0.0054)				HRAS_uc010qvw.1_Missense_Mutation_p.D33N|HRAS_uc010qvx.1_Missense_Mutation_p.D33N|HRAS_uc010qvy.1_RNA	p.D33N	NM_005343	NP_005334	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	285	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	33			Effector region.		B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.97G>A	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.785140	0.90282	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06	3.0	3.0	0.34707	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.82737	0.5102	L	0.48935	1.535	0.80722	D	1	D;D	0.89917	1.0;0.962	D;P	0.68353	0.957;0.659	D	0.85181	0.1004	10	0.87932	D	0	.	14.1517	0.65389	0.0:1.0:0.0:0.0	.	33;33	P01112-2;P01112	.;RASH_HUMAN	N	33	ENSP00000380722:D33N;ENSP00000380723:D33N;ENSP00000407586:D33N;ENSP00000388246:D33N;ENSP00000309845:D33N	ENSP00000309845:D33N	D	-	1	0	HRAS	524226	1.000000	0.71417	0.998000	0.56505	0.788000	0.44548	7.472000	0.80996	1.986000	0.57962	0.561000	0.74099	GAC		0.637	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2		NM_176795		13	25	0	0	0	0.013537	0	13	25		
TMEM80	283232	broad.mit.edu	37	11	703012	703012	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:703012C>T	ENST00000608174.1	+	5	506	c.369C>T	c.(367-369)acC>acT	p.T123T	TMEM80_ENST00000528024.1_3'UTR|TMEM80_ENST00000397510.3_Silent_p.T171T|TMEM80_ENST00000397512.3_Silent_p.T115T	NM_001042463.1|NM_174940.2	NP_001035928.2|NP_777600.3	Q96HE8	TMM80_HUMAN	transmembrane protein 80	123						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5		all_cancers(49;5.11e-06)|all_epithelial(84;0.00143)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.44e-27)|Epithelial(43;2.29e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.19e-20)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGGCTGGCACCGCCCTCCTCT	0.692																																						uc001lqr.2		NaN																	0					0						c.(367-369)ACC>ACT		transmembrane protein 80 isoform 2							28.0	30.0	29.0					11																	703012		2188	4282	6470	SO:0001819	synonymous_variant	283232					integral to membrane		g.chr11:703012C>T		CCDS41587.1, CCDS41587.2, CCDS73231.1	11p15.5	2005-10-18			ENSG00000177042	ENSG00000177042			27453	protein-coding gene	gene with protein product						12477932	Standard	NM_001042463		Approved	FLJ38216	uc010qwi.2	Q96HE8	OTTHUMG00000133307	ENST00000608174.1:c.369C>T	11.37:g.703012C>T						TMEM80_uc001lqs.2_Silent_p.T115T|TMEM80_uc010qwi.1_Silent_p.T123T	p.T123T	NM_001042463	NP_001035928	Q96HE8	TMM80_HUMAN		all cancers(45;3.44e-27)|Epithelial(43;2.29e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.19e-20)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	5	506	+		all_cancers(49;5.11e-06)|all_epithelial(84;0.00143)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	123					A8MQ01|A8MXY8|B7WNU5	Silent	SNP	ENST00000608174.1	37	c.369C>T	CCDS41587.1																																																																																				0.692	TMEM80-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257104.2		NM_174940		12	46	0	0	0	0.013537	0	12	46		
TALDO1	6888	broad.mit.edu	37	11	763392	763392	+	Silent	SNP	C	C	T	rs137853085		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:763392C>T	ENST00000319006.3	+	5	663	c.510C>T	c.(508-510)ttC>ttT	p.F170F	TALDO1_ENST00000528097.1_Silent_p.F170F			P37837	TALDO_HUMAN	transaldolase 1	170					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glyceraldehyde-3-phosphate metabolic process (GO:0019682)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	monosaccharide binding (GO:0048029)|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity (GO:0004801)	p.S171delS(1)		breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		CGTTACTCTTCTCCTTCGCCC	0.637																																						uc001lqz.2		NaN																	1	Deletion - In frame(1)		breast(1)		0						c.(508-510)TTC>TTT		transaldolase 1							127.0	110.0	116.0					11																	763392		2203	4300	6503	SO:0001819	synonymous_variant	6888				energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity	g.chr11:763392C>T		CCDS7712.1	11p15.5-p15.4	2009-12-02			ENSG00000177156	ENSG00000177156	2.2.1.2		11559	protein-coding gene	gene with protein product		602063				9339383	Standard	NM_006755		Approved		uc001lqz.3	P37837	OTTHUMG00000133318	ENST00000319006.3:c.510C>T	11.37:g.763392C>T						TALDO1_uc001lra.2_Silent_p.F170F	p.F170F	NM_006755	NP_006746	P37837	TALDO_HUMAN		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)	5	560	+		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)	170					B2R8M2|O00751|Q8WV32|Q8WZ45	Silent	SNP	ENST00000319006.3	37	c.510C>T	CCDS7712.1																																																																																				0.637	TALDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257116.1		NM_006755		31	55	0	0	0	0.012213	0	31	55		
DUSP8	1850	broad.mit.edu	37	11	1586951	1586951	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:1586951C>T	ENST00000397374.3	-	2	233	c.106G>A	c.(106-108)Gtg>Atg	p.V36M	DUSP8_ENST00000331588.4_Missense_Mutation_p.V36M	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	36	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				inactivation of MAPK activity (GO:0000188)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		TTGTACTCCACGAAGGAGCGG	0.657																																						uc001lts.2		NaN																	0					0						c.(106-108)GTG>ATG		dual specificity phosphatase 8							58.0	65.0	63.0					11																	1586951		2201	4292	6493	SO:0001583	missense	1850				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr11:1586951C>T		CCDS7724.1	11p15.5	2011-06-09			ENSG00000184545	ENSG00000184545		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3074	protein-coding gene	gene with protein product	"""serine/threonine specific protein phosphatase"", ""H1 phosphatase, vaccinia virus homolog"""	602038	"""chromosome 11 open reading frame 81"""	C11orf81		7561881, 9192849	Standard	NM_004420		Approved	HVH-5, HB5, FLJ42958	uc001lts.2	Q13202	OTTHUMG00000133348	ENST00000397374.3:c.106G>A	11.37:g.1586951C>T	ENSP00000380530:p.Val36Met						p.V36M	NM_004420	NP_004411	Q13202	DUS8_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)	2	234	-		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	36			Rhodanese.		Q86SS8	Missense_Mutation	SNP	ENST00000397374.3	37	c.106G>A	CCDS7724.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.338375	0.81911	.	.	ENSG00000184545	ENST00000397374;ENST00000331588	T;T	0.26223	1.75;1.75	3.76	3.76	0.43208	Rhodanese-like (5);	0.222920	0.30410	N	0.009694	T	0.35364	0.0929	L	0.29908	0.895	0.35260	D	0.779496	D	0.64830	0.994	P	0.60415	0.874	T	0.52268	-0.8598	10	0.72032	D	0.01	.	16.1549	0.81657	0.0:1.0:0.0:0.0	.	36	Q13202	DUS8_HUMAN	M	36	ENSP00000380530:V36M;ENSP00000329539:V36M	ENSP00000329539:V36M	V	-	1	0	DUSP8	1543527	0.869000	0.29996	1.000000	0.80357	0.990000	0.78478	1.698000	0.37794	2.113000	0.64589	0.561000	0.74099	GTG		0.657	DUSP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257178.3		NM_004420		15	102	0	0	0	0.004007	0	15	102		
MRGPRE	116534	broad.mit.edu	37	11	3249906	3249906	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:3249906T>C	ENST00000389832.5	-	2	430	c.124A>G	c.(124-126)Aat>Gat	p.N42D	AC109309.4_ENST00000418995.2_RNA|MRGPRE_ENST00000436689.2_Missense_Mutation_p.N41D			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	42						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACTGCCCCATTCCCCAGCAGC	0.642																																						uc001lxq.3		NaN																	0				large_intestine(1)|ovary(1)	2						c.(121-123)AAT>GAT		MAS-related GPR, member E							65.0	77.0	73.0					11																	3249906		2058	4194	6252	SO:0001583	missense	116534					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:3249906T>C	AY255572	CCDS41603.1, CCDS41603.2	11p15.5	2012-08-21	2004-03-25		ENSG00000184350	ENSG00000184350		"""GPCR / Class A : Orphans"""	30694	protein-coding gene	gene with protein product		607232	"""G protein-coupled receptor 167"""	GPR167		11551509	Standard	NM_001039165		Approved	mrgE	uc001lxq.5	Q86SM8	OTTHUMG00000011708	ENST00000389832.5:c.124A>G	11.37:g.3249906T>C	ENSP00000374482:p.Asn42Asp						p.N41D	NM_001039165	NP_001034254	Q86SM8	MRGRE_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	431	-		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	41			Cytoplasmic (Potential).		Q2M1V7	Missense_Mutation	SNP	ENST00000389832.5	37	c.121A>G		.	.	.	.	.	.	.	.	.	.	t	14.75	2.630072	0.46944	.	.	ENSG00000184350	ENST00000436689;ENST00000389832	.	.	.	3.5	2.37	0.29283	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45126	U	0.000391	T	0.66626	0.2808	M	0.87971	2.92	0.09310	N	1	D	0.89917	1.0	D	0.72982	0.979	T	0.57464	-0.7807	9	0.87932	D	0	-8.0125	6.6579	0.22998	0.0:0.1218:0.0:0.8782	.	41	Q86SM8	MRGRE_HUMAN	D	42;41	.	ENSP00000374482:N41D	N	-	1	0	MRGPRE	3206482	0.008000	0.16893	0.011000	0.14972	0.068000	0.16541	0.866000	0.27954	0.422000	0.26005	0.397000	0.26171	AAT		0.642	MRGPRE-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000032346.5		XM_171536		28	46	0	0	0	0.008361	0	28	46		
DENND5A	23258	broad.mit.edu	37	11	9161320	9161320	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:9161320G>A	ENST00000328194.3	-	23	4082	c.3762C>T	c.(3760-3762)atC>atT	p.I1254I	SCUBE2_ENST00000534295.1_5'Flank|DENND5A_ENST00000530044.1_3'UTR|DENND5A_ENST00000527700.1_Silent_p.I597I	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	1254	RUN 2. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TATGGTCTTTGATCAGTGCCA	0.527																																						uc001mhl.2		NaN																	0				liver(1)	1						c.(3760-3762)ATC>ATT		RAB6 interacting protein 1							165.0	114.0	131.0					11																	9161320		2201	4296	6497	SO:0001819	synonymous_variant	23258							g.chr11:9161320G>A	AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"""DENN/MADD domain containing"""	19344	protein-coding gene	gene with protein product			"""RAB6 interacting protein 1"""	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.3762C>T	11.37:g.9161320G>A						DENND5A_uc001mhk.2_Silent_p.I597I|DENND5A_uc010rbw.1_3'UTR	p.I1254I	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN			23	4017	-			1254			RUN 2.		B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Silent	SNP	ENST00000328194.3	37	c.3762C>T	CCDS31423.1	.	.	.	.	.	.	.	.	.	.	G	8.001	0.755396	0.15846	.	.	ENSG00000184014	ENST00000528725;ENST00000533737;ENST00000525784	.	.	.	5.71	4.71	0.59529	.	.	.	.	.	T	0.49660	0.1570	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46541	-0.9184	4	.	.	.	.	5.1972	0.15245	0.139:0.0:0.6479:0.2132	.	.	.	.	L	153;162;233	.	.	S	-	2	0	DENND5A	9117896	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	0.474000	0.22148	2.681000	0.91329	0.655000	0.94253	TCA		0.527	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2		NM_015213		9	25	0	0	0	0.004482	0	9	25		
ADM	133	broad.mit.edu	37	11	10327902	10327902	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:10327902G>A	ENST00000528655.1	+	3	889	c.272G>A	c.(271-273)cGa>cAa	p.R91Q	ADM_ENST00000526492.1_Silent_p.P101P|ADM_ENST00000278175.5_Missense_Mutation_p.R91Q|ADM_ENST00000534464.1_Missense_Mutation_p.R44Q|ADM_ENST00000530439.1_Missense_Mutation_p.R23Q|RP11-351I24.1_ENST00000526906.1_RNA|ADM_ENST00000525063.1_Missense_Mutation_p.R91Q			P35318	ADML_HUMAN	adrenomedullin	91					aging (GO:0007568)|androgen metabolic process (GO:0008209)|blood circulation (GO:0008015)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cAMP biosynthetic process (GO:0006171)|cAMP-mediated signaling (GO:0019933)|cell-cell signaling (GO:0007267)|developmental growth (GO:0048589)|female pregnancy (GO:0007565)|G-protein coupled receptor internalization (GO:0002031)|heart development (GO:0007507)|hormone secretion (GO:0046879)|negative regulation of cell proliferation (GO:0008285)|negative regulation of vascular permeability (GO:0043116)|negative regulation of vasoconstriction (GO:0045906)|neural tube closure (GO:0001843)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of heart rate (GO:0010460)|positive regulation of vasculogenesis (GO:2001214)|positive regulation of vasodilation (GO:0045909)|progesterone biosynthetic process (GO:0006701)|receptor internalization (GO:0031623)|regulation of the force of heart contraction (GO:0002026)|response to cold (GO:0009409)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|spongiotrophoblast layer development (GO:0060712)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor binding (GO:0005102)			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(1)	6				all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)		GCCCGCATCCGAGTCAAGCGC	0.647																																						uc001mik.1		NaN																	0				central_nervous_system(1)	1						c.(271-273)CGA>CAA		adrenomedullin precursor							25.0	28.0	27.0					11																	10327902		2201	4294	6495	SO:0001583	missense	133				blood circulation|cAMP biosynthetic process|female pregnancy|negative regulation of vasoconstriction|progesterone biosynthetic process|response to wounding	cytoplasm|extracellular space|soluble fraction	hormone activity	g.chr11:10327902G>A	D14874	CCDS7801.1	11p15.4	2013-02-25			ENSG00000148926	ENSG00000148926		"""Endogenous ligands"""	259	protein-coding gene	gene with protein product		103275				7688224	Standard	NM_001124		Approved	AM	uc001mil.1	P35318	OTTHUMG00000165907	ENST00000528655.1:c.272G>A	11.37:g.10327902G>A	ENSP00000436607:p.Arg91Gln					ADM_uc001mil.1_Missense_Mutation_p.R91Q|ADM_uc001mim.1_Missense_Mutation_p.R44Q	p.R91Q	NM_001124	NP_001115	P35318	ADML_HUMAN		all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)	3	889	+			91					B2R793|D3DQV3|Q6FGW2	Missense_Mutation	SNP	ENST00000528655.1	37	c.272G>A	CCDS7801.1	.	.	.	.	.	.	.	.	.	.	G	36	5.614965	0.96649	.	.	ENSG00000148926	ENST00000278175;ENST00000534464;ENST00000530439;ENST00000528655;ENST00000525063	T;T;T;T;T	0.27557	1.66;1.66;1.66;1.66;1.66	5.58	4.65	0.58169	.	0.055480	0.64402	D	0.000001	T	0.56381	0.1981	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.63075	-0.6718	10	0.87932	D	0	-6.0986	16.3291	0.83001	0.0:0.1324:0.8676:0.0	.	91	P35318	ADML_HUMAN	Q	91;44;23;91;91	ENSP00000278175:R91Q;ENSP00000431438:R44Q;ENSP00000436837:R23Q;ENSP00000436607:R91Q;ENSP00000435124:R91Q	ENSP00000278175:R91Q	R	+	2	0	ADM	10284478	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	6.708000	0.74660	1.315000	0.45114	0.561000	0.74099	CGA		0.647	ADM-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387008.1		NM_001124		20	23	0	0	0	0.012319	0	20	23		
USP47	55031	broad.mit.edu	37	11	11971470	11971470	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:11971470A>G	ENST00000399455.2	+	24	3563	c.3443A>G	c.(3442-3444)aAa>aGa	p.K1148R	USP47_ENST00000339865.5_Missense_Mutation_p.K1060R|USP47_ENST00000539466.1_5'UTR|USP47_ENST00000527733.1_Missense_Mutation_p.K1128R	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	1148					base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		GTGTTTGCTAAAGGAATGACT	0.343																																						uc001mjs.2		NaN																	0				ovary(1)|skin(1)	2						c.(3382-3384)AAA>AGA		ubiquitin specific protease 47							126.0	114.0	117.0					11																	11971470		1860	4099	5959	SO:0001583	missense	55031				base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding	g.chr11:11971470A>G	AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"""Ubiquitin-specific peptidases"""	20076	protein-coding gene	gene with protein product		614460	"""Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"", ""ubiquitin specific protease 47"""			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.3443A>G	11.37:g.11971470A>G	ENSP00000382382:p.Lys1148Arg					USP47_uc001mjr.2_Missense_Mutation_p.K1060R|USP47_uc009ygi.2_5'Flank	p.K1128R	NM_017944	NP_060414	Q96K76	UBP47_HUMAN		Epithelial(150;0.000339)	23	4146	+			1148					B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Missense_Mutation	SNP	ENST00000399455.2	37	c.3383A>G		.	.	.	.	.	.	.	.	.	.	A	24.9	4.582759	0.86748	.	.	ENSG00000170242	ENST00000339865;ENST00000527733;ENST00000399455	D;D;D	0.94931	-3.56;-3.56;-3.56	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.95290	0.8472	L	0.40543	1.245	0.80722	D	1	D;D	0.63880	0.993;0.974	D;D	0.70935	0.971;0.969	D	0.94253	0.7495	10	0.30078	T	0.28	.	15.5746	0.76365	1.0:0.0:0.0:0.0	.	1128;1060	E9PM46;Q96K76-2	.;.	R	1060;1128;1148	ENSP00000339957:K1060R;ENSP00000433146:K1128R;ENSP00000382382:K1148R	ENSP00000339957:K1060R	K	+	2	0	USP47	11928046	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.287000	0.95975	2.210000	0.71456	0.533000	0.62120	AAA		0.343	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000385853.2		NM_017944		11	29	0	0	0	0.010729	0	11	29		
PDE3B	5140	broad.mit.edu	37	11	14666332	14666332	+	Silent	SNP	C	C	T	rs376807459		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:14666332C>T	ENST00000282096.4	+	1	1064	c.711C>T	c.(709-711)ctC>ctT	p.L237L	PDE3B_ENST00000534317.1_3'UTR|PSMA1_ENST00000418988.2_5'Flank|PDE3B_ENST00000455098.2_Silent_p.L237L	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	237					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	TCACCAGCCTCGGGTCGCTGC	0.692																																						uc001mln.2		NaN																	0					0						c.(709-711)CTC>CTT		phosphodiesterase 3B		C		1,4391		0,1,2195	12.0	14.0	13.0		711	-1.0	1.0	11		13	0,8578		0,0,4289	no	coding-synonymous	PDE3B	NM_000922.3		0,1,6484	TT,TC,CC		0.0,0.0228,0.0077		237/1113	14666332	1,12969	2196	4289	6485	SO:0001819	synonymous_variant	5140				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding	g.chr11:14666332C>T	U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"""Phosphodiesterases"""	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.711C>T	11.37:g.14666332C>T						PDE3B_uc001mlm.2_Silent_p.L237L|PDE3B_uc010rcr.1_Silent_p.L237L|PSMA1_uc001mll.2_5'Flank	p.L237L	NM_000922	NP_000913	Q13370	PDE3B_HUMAN			1	1064	+			237			Helical; (Potential).		B7ZM37|O00639|Q14408|Q6SEI4	Silent	SNP	ENST00000282096.4	37	c.711C>T	CCDS7817.1																																																																																				0.692	PDE3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386974.1		NM_000922		7	22	0	0	0	0.00308	0	7	22		
CYP2R1	120227	broad.mit.edu	37	11	14913753	14913753	+	5'UTR	SNP	G	G	C	rs200462787		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:14913753G>C	ENST00000334636.5	-	0	45				CYP2R1_ENST00000526489.1_5'Flank|CYP2R1_ENST00000532378.1_5'Flank	NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1						small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	CTTCCACATCGGCCCGAGCTG	0.677																																					NSCLC(173;1584 2058 26117 29365 41534)	uc001mlr.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.e1-1		cytochrome P450, family 2, subfamily R,	Cholecalciferol(DB00169)|Ergocalciferol(DB00153)						9.0	11.0	11.0					11																	14913753		2063	4057	6120	SO:0001623	5_prime_UTR_variant	120227				hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity	g.chr11:14913753G>C	AY323817	CCDS7818.1	11p15.2	2008-02-05			ENSG00000186104	ENSG00000186104		"""Cytochrome P450s"""	20580	protein-coding gene	gene with protein product		608713				12464240, 12867411	Standard	XM_005252788		Approved		uc001mlr.3	Q6VVX0	OTTHUMG00000165900	ENST00000334636.5:c.-2C>G	11.37:g.14913753G>C						CYP2R1_uc001mlo.2_5'Flank|CYP2R1_uc001mlp.2_5'Flank|CYP2R1_uc001mlq.2_5'Flank	p.M1_splice	NM_024514	NP_078790	Q6VVX0	CP2R1_HUMAN			1	1	-								Q2M3H3|Q5RT65	Splice_Site	SNP	ENST00000334636.5	37	c.1_splice	CCDS7818.1																																																																																				0.677	CYP2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386985.1		NM_024514		3	16	0	0	0	0.009096	0	3	16		
CCDC34	91057	broad.mit.edu	37	11	27360567	27360567	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:27360567T>C	ENST00000328697.6	-	6	1596	c.923A>G	c.(922-924)aAt>aGt	p.N308S	CCDC34_ENST00000529615.1_5'UTR	NM_030771.1	NP_110398.1	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34	308										endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						TGGATAGGAATTTCCACTGTA	0.338																																						uc001mrh.1		NaN																	0					0						c.(922-924)AAT>AGT		coiled-coil domain containing 34 isoform 1							77.0	75.0	76.0					11																	27360567		2202	4299	6501	SO:0001583	missense	91057							g.chr11:27360567T>C	AF382034	CCDS7863.1, CCDS31448.1	11p14.1	2010-03-30			ENSG00000109881	ENSG00000109881			25079	protein-coding gene	gene with protein product		612324				11173847	Standard	NM_080654		Approved	NY-REN-41, L15, RAMA3	uc001mrh.1	Q96HJ3	OTTHUMG00000166211	ENST00000328697.6:c.923A>G	11.37:g.27360567T>C	ENSP00000330240:p.Asn308Ser						p.N308S	NM_030771	NP_110398	Q96HJ3	CCD34_HUMAN			6	977	-			308					B2R8G2|Q8IX69|Q9H2A6|Q9Y599	Missense_Mutation	SNP	ENST00000328697.6	37	c.923A>G	CCDS31448.1	.	.	.	.	.	.	.	.	.	.	T	11.95	1.791358	0.31685	.	.	ENSG00000109881	ENST00000328697	T	0.07114	3.22	5.79	-0.141	0.13452	.	0.473750	0.20715	N	0.087016	T	0.03608	0.0103	L	0.31664	0.95	0.80722	D	1	B	0.24768	0.111	B	0.20767	0.031	T	0.41070	-0.9529	10	0.05351	T	0.99	-2.1076	1.9622	0.03388	0.1232:0.1441:0.2242:0.5085	.	308	Q96HJ3	CCD34_HUMAN	S	308	ENSP00000330240:N308S	ENSP00000330240:N308S	N	-	2	0	CCDC34	27317143	0.998000	0.40836	0.999000	0.59377	0.992000	0.81027	0.243000	0.18106	0.088000	0.17205	0.477000	0.44152	AAT		0.338	CCDC34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388396.2		NM_030771		8	37	0	0	0	0.00308	0	8	37		
LGR4	55366	broad.mit.edu	37	11	27389570	27389570	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:27389570G>A	ENST00000379214.4	-	18	3143	c.2700C>T	c.(2698-2700)ggC>ggT	p.G900G	LGR4_ENST00000389858.4_Silent_p.G876G	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	900					bone mineralization (GO:0030282)|bone remodeling (GO:0046849)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cell differentiation involved in metanephros development (GO:0072202)|epithelial cell proliferation (GO:0050673)|innate immune response (GO:0045087)|male genitalia development (GO:0030539)|metanephric glomerulus development (GO:0072224)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						CCGACTGTGTGCCACAGTCGG	0.512																																						uc001mrj.3		NaN																	0				ovary(1)	1						c.(2698-2700)GGC>GGT		leucine-rich repeat-containing G protein-coupled							45.0	50.0	48.0					11																	27389570		2202	4299	6501	SO:0001819	synonymous_variant	55366					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr11:27389570G>A	AF257182	CCDS31449.1	11p14-p13	2012-08-21	2011-01-25	2004-11-12	ENSG00000205213	ENSG00000205213		"""GPCR / Class A : Orphans"""	13299	protein-coding gene	gene with protein product		606666	"""G protein-coupled receptor 48"", ""leucine-rich repeat-containing G protein-coupled receptor 4"""	GPR48		10894923	Standard	NM_018490		Approved		uc001mrj.4	Q9BXB1	OTTHUMG00000133508	ENST00000379214.4:c.2700C>T	11.37:g.27389570G>A						LGR4_uc001mrk.3_Silent_p.G876G	p.G900G	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN			18	3185	-			900			Cytoplasmic (Potential).		A6NCH3|G5E9B3|Q8N537|Q9NYD1	Silent	SNP	ENST00000379214.4	37	c.2700C>T	CCDS31449.1																																																																																				0.512	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257467.1		NM_018490		24	44	0	0	0	0.014323	0	24	44		
WT1	7490	broad.mit.edu	37	11	32410605	32410605	+	Nonstop_Mutation	SNP	C	C	G	rs148856160		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:32410605C>G	ENST00000379079.2	-	10	1181	c.908G>C	c.(907-909)tGa>tCa	p.*303S	WT1_ENST00000530998.1_Nonstop_Mutation_p.*289S|WT1_ENST00000332351.3_Nonstop_Mutation_p.*518S|WT1_ENST00000448076.3_Nonstop_Mutation_p.*515S	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1	0					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			GGAGACCCCTCAAAGCGCCAG	0.517			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																													uc001mtn.1		NaN	yes	Rec	yes	"""Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"""	11	11p13	7490	D|Mis|N|F|S	Wilms tumour 1 gene			O	EWSR1	Wilms	Wilms|desmoplastic small round cell tumor	EWSR1/WT1(231)	0				haematopoietic_and_lymphoid_tissue(318)|soft_tissue(231)|kidney(132)|pleura(2)|lung(2)|upper_aerodigestive_tract(1)|peritoneum(1)	687						c.(1552-1554)TGA>TCA		Wilms tumor 1 isoform D							170.0	147.0	155.0					11																	32410605		2202	4299	6501	SO:0001578	stop_lost	7490	Denys-Drash_syndrome|Frasier_syndrome|Familial_Wilms_tumor|Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated	adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:32410605C>G		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"""Zinc fingers, C2H2-type"""	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.908G>C	11.37:g.32410605C>G						WT1_uc001mtl.1_Nonstop_Mutation_p.*303S|WT1_uc001mtm.1_Nonstop_Mutation_p.*289S|WT1_uc001mto.1_Nonstop_Mutation_p.*515S|WT1_uc001mtp.1_Nonstop_Mutation_p.*501S|WT1_uc001mtq.1_Nonstop_Mutation_p.*498S|WT1_uc009yjs.1_RNA	p.*518S	NM_024426	NP_077744	P19544	WT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(30;0.128)		10	1749	-	Breast(20;0.247)		518					A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Nonstop_Mutation	SNP	ENST00000379079.2	37	c.1553G>C	CCDS55751.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.22|14.22	2.469846|2.469846	0.43839|0.43839	.|.	.|.	ENSG00000184937|ENSG00000184937	ENST00000527882|ENST00000379079;ENST00000332351;ENST00000530998;ENST00000452863;ENST00000448076	T|.	0.05855|.	3.38|.	5.76|5.76	3.74|3.74	0.42951|0.42951	.|.	.|.	.|.	.|.	.|.	T|.	0.27384|.	0.0672|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.19811|.	-1.0294|.	6|.	0.72032|.	D|.	0.01|.	.|.	4.9846|4.9846	0.14183|0.14183	0.0:0.6152:0.0:0.3848|0.0:0.6152:0.0:0.3848	.|.	.|.	.|.	.|.	F|S	178|303;518;289;498;515	ENSP00000435624:L178F|.	ENSP00000435624:L178F|.	L|X	-|-	3|2	2|2	WT1|WT1	32367181|32367181	1.000000|1.000000	0.71417|0.71417	0.602000|0.602000	0.28890|0.28890	0.887000|0.887000	0.51463|0.51463	2.343000|2.343000	0.44001|0.44001	0.700000|0.700000	0.31782|0.31782	0.561000|0.561000	0.74099|0.74099	TTG|TGA		0.517	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000095434.1		NM_000378		25	30	0	0	0	0.004656	0	25	30		
HIPK3	10114	broad.mit.edu	37	11	33361046	33361046	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:33361046A>G	ENST00000303296.4	+	6	1884	c.1579A>G	c.(1579-1581)Atg>Gtg	p.M527V	HIPK3_ENST00000456517.1_Missense_Mutation_p.M527V|HIPK3_ENST00000379016.3_Missense_Mutation_p.M527V|HIPK3_ENST00000525975.1_Missense_Mutation_p.M527V	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	527					apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						TTTTGTTAATATGAAACATCT	0.323																																						uc001mul.1		NaN																	0				large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1)	5						c.(1579-1581)ATG>GTG		homeodomain interacting protein kinase 3 isoform							172.0	177.0	175.0					11																	33361046		2202	4298	6500	SO:0001583	missense	10114				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:33361046A>G	AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"""homeodomain-interacting protein kinase 3"""			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.1579A>G	11.37:g.33361046A>G	ENSP00000304226:p.Met527Val					HIPK3_uc001mum.1_Missense_Mutation_p.M527V|HIPK3_uc009yjv.1_Missense_Mutation_p.M527V	p.M527V	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN			6	1849	+			527					O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Missense_Mutation	SNP	ENST00000303296.4	37	c.1579A>G	CCDS7884.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.456461	0.84317	.	.	ENSG00000110422	ENST00000525975;ENST00000303296;ENST00000379016;ENST00000456517	T;T;T;T	0.19806	2.12;2.12;2.12;2.12	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.41396	0.1157	M	0.75264	2.295	0.80722	D	1	P;P	0.46706	0.864;0.883	P;P	0.52758	0.708;0.514	T	0.32052	-0.9921	10	0.87932	D	0	.	16.3839	0.83495	1.0:0.0:0.0:0.0	.	527;527	Q9H422-2;Q9H422	.;HIPK3_HUMAN	V	527	ENSP00000431710:M527V;ENSP00000304226:M527V;ENSP00000368301:M527V;ENSP00000398241:M527V	ENSP00000304226:M527V	M	+	1	0	HIPK3	33317622	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	2.258000	0.74832	0.533000	0.62120	ATG		0.323	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1		NM_005734		22	88	0	0	0	0.004656	0	22	88		
OR4C15	81309	broad.mit.edu	37	11	55322644	55322644	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:55322644A>G	ENST00000314644.2	+	1	862	c.862A>G	c.(862-864)Aaa>Gaa	p.K288E		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						AGGGCGCTGGAAAGCTCTCTC	0.443										HNSCC(20;0.049)																												uc010rig.1		NaN																	0				ovary(1)|skin(1)	2						c.(862-864)AAA>GAA		olfactory receptor, family 4, subfamily C,							229.0	212.0	218.0					11																	55322644		2201	4296	6497	SO:0001583	missense	81309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55322644A>G	BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.862A>G	11.37:g.55322644A>G	ENSP00000324958:p.Lys288Glu	HNSCC(20;0.049)					p.K288E	NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN			1	862	+			234			Cytoplasmic (Potential).		Q6IFE2	Missense_Mutation	SNP	ENST00000314644.2	37	c.862A>G	CCDS31501.1	.	.	.	.	.	.	.	.	.	.	A	14.74	2.625428	0.46840	.	.	ENSG00000181939	ENST00000314644	T	0.00364	7.81	5.02	3.89	0.44902	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.02156	0.0067	H	0.99689	4.705	0.27713	N	0.9454	D	0.89917	1.0	D	0.97110	1.0	T	0.27468	-1.0073	9	0.72032	D	0.01	.	8.935	0.35695	0.911:0.0:0.089:0.0	.	234	Q8NGM1	OR4CF_HUMAN	E	288	ENSP00000324958:K288E	ENSP00000324958:K288E	K	+	1	0	OR4C15	55079220	0.988000	0.35896	0.802000	0.32245	0.156000	0.22039	4.055000	0.57441	0.933000	0.37291	0.317000	0.21355	AAA		0.443	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1		NM_001001920		25	104	0	0	0	0.007291	0	25	104		
OR8H1	219469	broad.mit.edu	37	11	56058202	56058202	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:56058202G>T	ENST00000313022.2	-	1	364	c.337C>A	c.(337-339)Ctt>Att	p.L113I		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	113						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GATGAGAGAAGAAAACATTCA	0.438																																						uc010rje.1		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(337-339)CTT>ATT		olfactory receptor, family 8, subfamily H,							165.0	163.0	163.0					11																	56058202		2201	4296	6497	SO:0001583	missense	219469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56058202G>T	AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"""GPCR / Class A : Olfactory receptors"""	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.337C>A	11.37:g.56058202G>T	ENSP00000323595:p.Leu113Ile						p.L113I	NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN			1	337	-	Esophageal squamous(21;0.00448)		113			Helical; Name=3; (Potential).		B2RNI7|Q6IFC5	Missense_Mutation	SNP	ENST00000313022.2	37	c.337C>A	CCDS31526.1	.	.	.	.	.	.	.	.	.	.	G	5.640	0.302759	0.10678	.	.	ENSG00000181693	ENST00000313022;ENST00000395186	T	0.12984	2.63	3.94	1.82	0.25136	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47455	D	0.000233	T	0.12305	0.0299	L	0.52364	1.645	0.09310	N	1	B	0.29508	0.246	B	0.33042	0.157	T	0.15093	-1.0449	10	0.46703	T	0.11	.	5.8776	0.18838	0.1814:0.0:0.6626:0.156	.	113	Q8NGG4	OR8H1_HUMAN	I	113;109	ENSP00000323595:L113I	ENSP00000323595:L113I	L	-	1	0	OR8H1	55814778	0.000000	0.05858	0.155000	0.22561	0.007000	0.05969	-0.648000	0.05391	0.959000	0.37980	0.544000	0.68410	CTT		0.438	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370019.1		NM_001005199		28	92	1	0	2.12542e-12	0.00632	2.27309e-12	28	92		
PRG2	5553	broad.mit.edu	37	11	57156559	57156559	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:57156559T>G	ENST00000311862.5	-	3	363	c.290A>C	c.(289-291)aAa>aCa	p.K97T	PRG2_ENST00000533605.1_Missense_Mutation_p.K97T|PRG2_ENST00000525955.1_Missense_Mutation_p.K97T|RP11-872D17.8_ENST00000529411.1_Missense_Mutation_p.K202T	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3	P13727	PRG2_HUMAN	proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)	97					defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Sargramostim(DB00020)	GCCCACCACTTTTACTGTGTC	0.527																																						uc001njz.2		NaN																	0				central_nervous_system(1)	1						c.(289-291)AAA>ACA		proteoglycan 2 preproprotein	Sargramostim(DB00020)						126.0	115.0	118.0					11																	57156559		2201	4296	6497	SO:0001583	missense	5553				defense response to bacterium|immune response	extracellular region|transport vesicle	heparin binding|sugar binding	g.chr11:57156559T>G	BC005929	CCDS7955.1, CCDS58133.1	11q12	2005-11-25				ENSG00000186652			9362	protein-coding gene	gene with protein product		605601				1565101	Standard	NM_001243245		Approved	MBP, BMPG		P13727		ENST00000311862.5:c.290A>C	11.37:g.57156559T>G	ENSP00000312134:p.Lys97Thr					PRG2_uc001njw.1_RNA|PRG2_uc001njx.1_RNA|PRG2_uc001njy.1_RNA|PRG2_uc001nka.2_Missense_Mutation_p.K97T|PRG2_uc001nkb.2_Missense_Mutation_p.K97T|PRG2_uc001nkd.2_Missense_Mutation_p.K97T|PRG2_uc001nkc.2_Missense_Mutation_p.K97T|PRG2_uc001nke.2_Missense_Mutation_p.K377T	p.K97T	NM_002728	NP_002719	P13727	PRG2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	317	-			97					A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Missense_Mutation	SNP	ENST00000311862.5	37	c.290A>C	CCDS7955.1	.	.	.	.	.	.	.	.	.	.	T	13.00	2.106152	0.37145	.	.	ENSG00000186652;ENSG00000186652;ENSG00000186652;ENSG00000254979	ENST00000311862;ENST00000533605;ENST00000525955;ENST00000529411	T;T;T;T	0.49432	0.78;2.87;0.78;1.46	5.22	-2.16	0.07080	C-type lectin (1);	1.256500	0.05521	N	0.562178	T	0.27832	0.0685	L	0.27053	0.805	0.09310	N	1	B;B	0.26002	0.139;0.105	B;B	0.25140	0.058;0.02	T	0.13899	-1.0492	10	0.27785	T	0.31	.	0.1072	0.00053	0.3103:0.1907:0.1593:0.3397	.	97;97	A6XMW0;P13727	.;PRG2_HUMAN	T	97;97;97;202	ENSP00000312134:K97T;ENSP00000433231:K97T;ENSP00000433016:K97T;ENSP00000431536:K202T	ENSP00000312134:K97T	K	-	2	0	RP11-872D17.8;PRG2	56913135	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-0.762000	0.04745	-0.296000	0.08947	0.459000	0.35465	AAA		0.527	PRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392468.1		NM_002728		20	99	0	0	0	0.010504	0	20	99		
ZDHHC5	25921	broad.mit.edu	37	11	57467491	57467491	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:57467491G>A	ENST00000287169.3	+	12	3498	c.2136G>A	c.(2134-2136)gaG>gaA	p.E712E	ZDHHC5_ENST00000527985.1_Silent_p.E659E	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	712					protein palmitoylation (GO:0018345)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						CCACCTATGAGATTTCGGTGT	0.647																																						uc001nkx.1		NaN																	0				skin(1)	1						c.(2134-2136)GAG>GAA		zinc finger, DHHC domain containing 5							67.0	60.0	63.0					11																	57467491		2201	4296	6497	SO:0001819	synonymous_variant	25921					integral to membrane	acyltransferase activity|zinc ion binding	g.chr11:57467491G>A	AB051535	CCDS7965.1	11q13.1	2008-05-02			ENSG00000156599	ENSG00000156599		"""Zinc fingers, DHHC-type"""	18472	protein-coding gene	gene with protein product		614586				11214970	Standard	NM_015457		Approved	KIAA1748, ZNF375	uc001nkx.1	Q9C0B5	OTTHUMG00000167198	ENST00000287169.3:c.2136G>A	11.37:g.57467491G>A						ZDHHC5_uc001nky.1_Silent_p.E659E|ZDHHC5_uc001nkz.1_Silent_p.E526E	p.E712E	NM_015457	NP_056272	Q9C0B5	ZDHC5_HUMAN			12	3392	+			712					Q2TGF0|Q6ZMF0|Q8TAK8|Q9H923|Q9UFI7	Silent	SNP	ENST00000287169.3	37	c.2136G>A	CCDS7965.1																																																																																				0.647	ZDHHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393694.1		NM_015457		11	10	0	0	0	0.008291	0	11	10		
ZFP91	80829	broad.mit.edu	37	11	58384270	58384270	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:58384270C>A	ENST00000316059.6	+	10	1355	c.1184C>A	c.(1183-1185)aCt>aAt	p.T395N	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.T395N	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	395					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein K63-linked ubiquitination (GO:0070534)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				ATGATTCACACTGGCGAGAAG	0.423																																						uc001nmx.3		NaN																	0				ovary(1)	1						c.(1183-1185)ACT>AAT		zinc finger protein 91							65.0	62.0	63.0					11																	58384270		2201	4295	6496	SO:0001583	missense	80829				activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:58384270C>A	AB056107	CCDS31553.1	11q12	2012-11-27	2012-11-27		ENSG00000186660	ENSG00000186660		"""Zinc fingers, C2H2-type"""	14983	protein-coding gene	gene with protein product			"""zinc finger protein homologous to Zfp91 in mouse"", ""zinc finger protein 91 homolog (mouse)"""			12738986, 20682767	Standard	NM_053023		Approved	PZF, ZNF757	uc001nmx.4	Q96JP5	OTTHUMG00000137391	ENST00000316059.6:c.1184C>A	11.37:g.58384270C>A	ENSP00000339030:p.Thr395Asn					ZFP91_uc001nmy.3_Missense_Mutation_p.T394N|ZFP91-CNTF_uc010rkm.1_RNA	p.T395N	NM_053023	NP_444251	Q96JP5	ZFP91_HUMAN			10	1352	+		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	395					A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	Missense_Mutation	SNP	ENST00000316059.6	37	c.1184C>A	CCDS31553.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.981669	0.93044	.	.	ENSG00000186660	ENST00000316059;ENST00000389918	T	0.26067	1.76	5.92	5.92	0.95590	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.49525	0.1562	L	0.52905	1.665	0.80722	D	1	D;D	0.89917	1.0;0.977	D;P	0.83275	0.996;0.855	T	0.38134	-0.9675	10	0.66056	D	0.02	-14.1241	19.1058	0.93294	0.0:1.0:0.0:0.0	.	395;395	Q96JP5-2;Q96JP5	.;ZFP91_HUMAN	N	395	ENSP00000339030:T395N	ENSP00000374569:T395N	T	+	2	0	ZFP91	58140846	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.822000	0.97130	0.650000	0.86243	ACT		0.423	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268674.1		NM_053023		7	36	1	0	0.000274275	0.004482	0.000284165	7	36		
ZFP91	80829	broad.mit.edu	37	11	58384283	58384283	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:58384283A>G	ENST00000316059.6	+	10	1368	c.1197A>G	c.(1195-1197)ccA>ccG	p.P399P	ZFP91-CNTF_ENST00000389919.4_Silent_p.P399P	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	399					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein K63-linked ubiquitination (GO:0070534)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				GCGAGAAGCCATTACAGTGAG	0.438																																						uc001nmx.3		NaN																	0				ovary(1)	1						c.(1195-1197)CCA>CCG		zinc finger protein 91							58.0	54.0	56.0					11																	58384283		2201	4295	6496	SO:0001819	synonymous_variant	80829				activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:58384283A>G	AB056107	CCDS31553.1	11q12	2012-11-27	2012-11-27		ENSG00000186660	ENSG00000186660		"""Zinc fingers, C2H2-type"""	14983	protein-coding gene	gene with protein product			"""zinc finger protein homologous to Zfp91 in mouse"", ""zinc finger protein 91 homolog (mouse)"""			12738986, 20682767	Standard	NM_053023		Approved	PZF, ZNF757	uc001nmx.4	Q96JP5	OTTHUMG00000137391	ENST00000316059.6:c.1197A>G	11.37:g.58384283A>G						ZFP91_uc001nmy.3_Silent_p.P398P|ZFP91-CNTF_uc010rkm.1_RNA	p.P399P	NM_053023	NP_444251	Q96JP5	ZFP91_HUMAN			10	1365	+		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	399					A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	Silent	SNP	ENST00000316059.6	37	c.1197A>G	CCDS31553.1																																																																																				0.438	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268674.1		NM_053023		9	35	0	0	0	0.006214	0	9	35		
MS4A14	84689	broad.mit.edu	37	11	60184148	60184148	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:60184148G>A	ENST00000300187.6	+	5	1984	c.1707G>A	c.(1705-1707)caG>caA	p.Q569Q	MS4A14_ENST00000531783.1_Silent_p.Q602Q|MS4A14_ENST00000395005.2_Silent_p.Q552Q|MS4A14_ENST00000531787.1_Silent_p.Q457Q	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	569	Gln-rich.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						CTGAAGATCAGCAAGCCAAAG	0.438																																						uc001npj.2		NaN																	0				breast(1)	1						c.(1705-1707)CAG>CAA		membrane-spanning 4-domains, subfamily A, member							83.0	74.0	77.0					11																	60184148		2203	4300	6503	SO:0001819	synonymous_variant	84689					integral to membrane	receptor activity	g.chr11:60184148G>A	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.1707G>A	11.37:g.60184148G>A						MS4A14_uc001npi.2_Silent_p.Q457Q|MS4A14_uc001npn.2_Silent_p.Q307Q|MS4A14_uc001npk.2_Silent_p.Q552Q|MS4A14_uc001npl.2_Silent_p.Q307Q|MS4A14_uc001npm.2_Silent_p.Q307Q	p.Q569Q	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN			5	2272	+			569			Gln-rich.		E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Silent	SNP	ENST00000300187.6	37	c.1707G>A	CCDS31569.1																																																																																				0.438	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2				17	8	0	0	0	0.004007	0	17	8		
DAK	26007	broad.mit.edu	37	11	61111381	61111381	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:61111381G>A	ENST00000394900.3	+	12	1265	c.1036G>A	c.(1036-1038)Ggg>Agg	p.G346R		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	346					carbohydrate phosphorylation (GO:0046835)|cellular carbohydrate metabolic process (GO:0044262)|glycerol metabolic process (GO:0006071)|innate immune response (GO:0045087)|regulation of innate immune response (GO:0045088)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|FAD-AMP lyase (cyclizing) activity (GO:0034012)|glycerone kinase activity (GO:0004371)|metal ion binding (GO:0046872)|triokinase activity (GO:0050354)			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						CTCCATTACTGGGCGGAAGCG	0.622																																						uc001nre.2		NaN																	0					0						c.(1036-1038)GGG>AGG		dihydroxyacetone kinase 2							60.0	68.0	65.0					11																	61111381		2203	4299	6502	SO:0001583	missense	26007				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding	g.chr11:61111381G>A		CCDS8003.1	11q12.2	2009-11-06	2006-04-04		ENSG00000149476	ENSG00000149476			24552	protein-coding gene	gene with protein product		615844	"""dihydroxyacetone kinase 2 homolog (yeast)"""				Standard	XM_005273898		Approved	DKFZP586B1621, NET45	uc001nre.3	Q3LXA3	OTTHUMG00000168076	ENST00000394900.3:c.1036G>A	11.37:g.61111381G>A	ENSP00000378360:p.Gly346Arg					DDB1_uc010rlf.1_5'Flank|DAK_uc009ynm.1_Missense_Mutation_p.G276R	p.G346R	NM_015533	NP_056348	Q3LXA3	DHAK_HUMAN			12	1293	+			346					Q2L9C1|Q53EQ9|Q9BVA7|Q9H895	Missense_Mutation	SNP	ENST00000394900.3	37	c.1036G>A	CCDS8003.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.664831	0.67700	.	.	ENSG00000149476	ENST00000394900;ENST00000529479	T;T	0.30182	1.55;1.54	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.33265	0.0857	N	0.14661	0.345	0.80722	D	1	D;D	0.65815	0.992;0.995	P;P	0.59288	0.831;0.855	T	0.04811	-1.0925	10	0.15066	T	0.55	-26.5536	17.6318	0.88111	0.0:0.0:1.0:0.0	.	346;346	Q2L9C1;Q3LXA3	.;DHAK_HUMAN	R	346;345	ENSP00000378360:G346R;ENSP00000432539:G345R	ENSP00000378360:G346R	G	+	1	0	DAK	60867957	1.000000	0.71417	0.989000	0.46669	0.044000	0.14063	6.124000	0.71620	2.779000	0.95612	0.655000	0.94253	GGG		0.622	DAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394425.4		NM_015533		15	83	0	0	0	0.00245	0	15	83		
SYT7	9066	broad.mit.edu	37	11	61318925	61318925	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:61318925T>C	ENST00000263846.4	-	3	473	c.146A>G	c.(145-147)tAc>tGc	p.Y49C	SYT7_ENST00000542670.1_Missense_Mutation_p.Y49C|SYT7_ENST00000540677.1_Missense_Mutation_p.Y49C|SYT7_ENST00000542836.1_Missense_Mutation_p.Y49C|SYT7_ENST00000535826.1_Missense_Mutation_p.Y49C|SYT7_ENST00000539008.1_Missense_Mutation_p.Y49C	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	49					exocytosis (GO:0006887)|plasma membrane repair (GO:0001778)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GGAATTCTTGTAGCGTTTGCC	0.587																																						uc001nrv.2		NaN																	0				ovary(3)|pancreas(1)	4						c.(145-147)TAC>TGC		synaptotagmin VII							147.0	114.0	125.0					11																	61318925		2202	4299	6501	SO:0001583	missense	9066					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	g.chr11:61318925T>C	AF038535	CCDS31577.1, CCDS58139.1, CCDS73298.1	11q12-q13.1	2013-01-21			ENSG00000011347	ENSG00000011347		"""Synaptotagmins"""	11514	protein-coding gene	gene with protein product		604146	"""prostate cancer associated protein 7"""	PCANAP7		9615227	Standard	NM_001252065		Approved	IPCA-7, SYT-VII, MGC150517	uc009ynr.3	O43581	OTTHUMG00000168199	ENST00000263846.4:c.146A>G	11.37:g.61318925T>C	ENSP00000263846:p.Tyr49Cys					SYT7_uc009ynr.2_Missense_Mutation_p.Y49C|SYT7_uc001nrx.1_RNA	p.Y49C	NM_004200	NP_004191	O43581	SYT7_HUMAN			3	152	-			49			Cytoplasmic (Potential).		F5GZU9|Q08AH6	Missense_Mutation	SNP	ENST00000263846.4	37	c.146A>G	CCDS31577.1	.	.	.	.	.	.	.	.	.	.	T	18.08	3.543086	0.65198	.	.	ENSG00000011347	ENST00000263846;ENST00000540677;ENST00000539008;ENST00000542836;ENST00000542670;ENST00000535826;ENST00000545053	T;T;T;T;T;T;T	0.61510	0.4;0.1;0.53;0.37;0.3;0.37;1.82	3.48	3.48	0.39840	.	0.574624	0.16704	N	0.202983	T	0.49695	0.1572	N	0.14661	0.345	0.30090	N	0.808422	D;P	0.55605	0.972;0.9	P;B	0.53450	0.726;0.431	T	0.48592	-0.9022	10	0.40728	T	0.16	.	10.7535	0.46223	0.0:0.0:0.0:1.0	.	49;49	F5GZU9;O43581	.;SYT7_HUMAN	C	49	ENSP00000263846:Y49C;ENSP00000444201:Y49C;ENSP00000439694:Y49C;ENSP00000444568:Y49C;ENSP00000444019:Y49C;ENSP00000437720:Y49C;ENSP00000443576:Y49C	ENSP00000263846:Y49C	Y	-	2	0	SYT7	61075501	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.641000	0.74324	1.600000	0.50102	0.454000	0.30748	TAC		0.587	SYT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398733.1		NM_004200		12	63	0	0	0	0.001855	0	12	63		
DAGLA	747	broad.mit.edu	37	11	61511362	61511362	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:61511362G>A	ENST00000257215.5	+	20	2646	c.2530G>A	c.(2530-2532)Gac>Aac	p.D844N	RP11-467L20.10_ENST00000536405.1_lincRNA	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	844					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GCTGGCGGCCGACAGCCTGTC	0.667																																						uc001nsa.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(2530-2532)GAC>AAC		neural stem cell-derived dendrite regulator							82.0	96.0	91.0					11																	61511362		2116	4175	6291	SO:0001583	missense	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61511362G>A	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.2530G>A	11.37:g.61511362G>A	ENSP00000257215:p.Asp844Asn						p.D844N	NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	20	2641	+			844			Cytoplasmic (Potential).		A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	37	c.2530G>A	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658209	0.67586	.	.	ENSG00000134780	ENST00000257215	T	0.30714	1.52	3.21	3.21	0.36854	.	0.052939	0.64402	D	0.000001	T	0.21718	0.0523	N	0.19112	0.55	0.50313	D	0.999869	B	0.22604	0.072	B	0.13407	0.009	T	0.17319	-1.0373	10	0.87932	D	0	-37.2751	15.6834	0.77391	0.0:0.0:1.0:0.0	.	844	Q9Y4D2	DGLA_HUMAN	N	844	ENSP00000257215:D844N	ENSP00000257215:D844N	D	+	1	0	DAGLA	61267938	1.000000	0.71417	0.925000	0.36789	0.780000	0.44128	4.847000	0.62867	2.110000	0.64415	0.561000	0.74099	GAC		0.667	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1		NM_006133		105	166	0	0	0	0.01441	0	105	166		
MARK2	2011	broad.mit.edu	37	11	63672397	63672397	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:63672397C>T	ENST00000509502.2	+	16	2177	c.1714C>T	c.(1714-1716)Cgg>Tgg	p.R572W	MARK2_ENST00000402010.2_Missense_Mutation_p.R606W|MARK2_ENST00000413835.2_Missense_Mutation_p.R552W|MARK2_ENST00000350490.7_Missense_Mutation_p.R551W|MARK2_ENST00000502399.3_Missense_Mutation_p.R605W|MARK2_ENST00000377809.4_Missense_Mutation_p.R606W|MARK2_ENST00000408948.3_Missense_Mutation_p.R518W|MARK2_ENST00000513765.2_Missense_Mutation_p.R573W|MARK2_ENST00000425897.2_Missense_Mutation_p.R526W|MARK2_ENST00000315032.8_Missense_Mutation_p.R606W|MARK2_ENST00000361128.5_Missense_Mutation_p.R552W|MARK2_ENST00000377810.3_Missense_Mutation_p.R518W|MARK2_ENST00000508192.1_Missense_Mutation_p.R551W	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2											autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						CCGACAGGTGCGGGACCAGCA	0.647																																						uc001nxw.2		NaN																	0				stomach(1)|ovary(1)|lung(1)	3						c.(1816-1818)CGG>TGG		MAP/microtubule affinity-regulating kinase 2							64.0	64.0	64.0					11																	63672397		2201	4297	6498	SO:0001583	missense	2011				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:63672397C>T	BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"""ELKL motif kinase 1"", ""serine/threonine kinase"", ""protein-serine/threonine kinase"", ""Ser/Thr protein kinase PAR-1B"""	600526	"""ELKL motif kinase"""	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.1714C>T	11.37:g.63672397C>T	ENSP00000423974:p.Arg572Trp					MARK2_uc001nxx.2_Missense_Mutation_p.R552W|MARK2_uc001nxy.2_Missense_Mutation_p.R551W|MARK2_uc001nxv.3_Missense_Mutation_p.R551W|MARK2_uc001nxz.3_Missense_Mutation_p.R572W|MARK2_uc009yoy.2_Missense_Mutation_p.R526W	p.R606W	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN			16	2395	+			606						Missense_Mutation	SNP	ENST00000509502.2	37	c.1816C>T	CCDS41665.1	.	.	.	.	.	.	.	.	.	.	c	13.98	2.398498	0.42512	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	T;T;T;T;T;T;T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65	4.73	1.73	0.24493	.	0.000000	0.64402	D	0.000001	T	0.62368	0.2422	M	0.70842	2.15	0.58432	D	0.99999	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.999;0.999	D;D;D;D;P;P	0.72625	0.959;0.954;0.978;0.942;0.902;0.866	T	0.62048	-0.6936	10	0.87932	D	0	.	9.2432	0.37509	0.0:0.647:0.275:0.078	.	526;572;551;552;606;551	E7ETY4;Q7KZI7-14;Q7KZI7-15;Q7KZI7-5;Q7KZI7;Q7KZI7-16	.;.;.;.;MARK2_HUMAN;.	W	606;606;606;552;518;551;552;551;607;572;573;518;526	ENSP00000385751:R606W;ENSP00000326632:R606W;ENSP00000367040:R606W;ENSP00000389184:R552W;ENSP00000367041:R518W;ENSP00000425765:R551W;ENSP00000355091:R552W;ENSP00000294247:R551W;ENSP00000423974:R572W;ENSP00000421075:R573W;ENSP00000386128:R518W;ENSP00000415494:R526W	ENSP00000326632:R606W	R	+	1	2	MARK2	63428973	0.998000	0.40836	0.998000	0.56505	0.073000	0.16967	3.717000	0.54911	0.284000	0.22305	-0.267000	0.10333	CGG		0.647	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360862.2		NM_017490		5	86	0	0	0	0.001168	0	5	86		
PLCB3	5331	broad.mit.edu	37	11	64023082	64023082	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:64023082C>T	ENST00000540288.1	+	7	694	c.591C>T	c.(589-591)ttC>ttT	p.F197F	PLCB3_ENST00000279230.6_Silent_p.F197F|PLCB3_ENST00000325234.5_Silent_p.F130F	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	197					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						GCCTCAAATTCAACCGGGTGT	0.642																																						uc001nzb.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(589-591)TTC>TTT		phospholipase C beta 3							56.0	59.0	58.0					11																	64023082		2201	4297	6498	SO:0001819	synonymous_variant	5331				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr11:64023082C>T	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.591C>T	11.37:g.64023082C>T						PLCB3_uc009ypg.1_Silent_p.F197F|PLCB3_uc009yph.1_Silent_p.F130F|PLCB3_uc009ypi.2_Silent_p.F197F	p.F197F	NM_000932	NP_000923	Q01970	PLCB3_HUMAN			7	591	+			197					A5PKZ6|G5E960|Q8N1A4	Silent	SNP	ENST00000540288.1	37	c.591C>T	CCDS8064.1																																																																																				0.642	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1				29	37	0	0	0	0.010818	0	29	37		
PRDX5	25824	broad.mit.edu	37	11	64085722	64085722	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:64085722C>T	ENST00000265462.4	+	1	163	c.35C>T	c.(34-36)tCa>tTa	p.S12L	TRMT112_ENST00000535750.1_5'Flank|PRDX5_ENST00000347941.4_Missense_Mutation_p.S12L|TRMT112_ENST00000308774.2_5'Flank|TRMT112_ENST00000535126.1_5'Flank|PRDX5_ENST00000352435.4_Missense_Mutation_p.S12L|TRMT112_ENST00000544844.1_5'Flank|TRMT112_ENST00000539854.1_5'Flank	NM_012094.4	NP_036226	P30044	PRDX5_HUMAN	peroxiredoxin 5	12					cellular response to reactive oxygen species (GO:0034614)|hydrogen peroxide catabolic process (GO:0042744)|inflammatory response (GO:0006954)|NADPH oxidation (GO:0070995)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|positive regulation of collagen biosynthetic process (GO:0032967)|reactive nitrogen species metabolic process (GO:2001057)|regulation of apoptosis involved in tissue homeostasis (GO:0060785)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	antioxidant activity (GO:0016209)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|peroxidase activity (GO:0004601)|peroxiredoxin activity (GO:0051920)|peroxynitrite reductase activity (GO:0072541)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase III regulatory region DNA binding (GO:0001016)			breast(1)|kidney(1)|lung(1)|skin(1)	4					Auranofin(DB00995)	CTGAGACGCTCAGCGGGCTAT	0.697																																						uc001nzu.2		NaN																	0				breast(1)	1						c.(34-36)TCA>TTA		peroxiredoxin 5 isoform a precursor	Auranofin(DB00995)						36.0	37.0	37.0					11																	64085722		2200	4296	6496	SO:0001583	missense	25824				cell redox homeostasis|cellular response to reactive oxygen species|inflammatory response|negative regulation of apoptosis	cytosolic part|mitochondrion|peroxisome	caspase inhibitor activity|peroxidase activity|peroxiredoxin activity	g.chr11:64085722C>T	AF197952	CCDS8069.1, CCDS8070.1, CCDS8071.1	11q13	2008-07-21			ENSG00000126432	ENSG00000126432			9355	protein-coding gene	gene with protein product	"""antioxidant enzyme B166"", ""thioredoxin peroxidase PMP20"", ""peroxisomal antioxidant enzyme"", ""TPx type VI"", ""liver tissue 2D-page spot 71B"", ""Alu co-repressor 1"""	606583				10514471, 10521424	Standard	NM_012094		Approved	ACR1, AOEB166, MGC142285, PRXV, PMP20, B166, PRDX6, PLP, SBBI10, MGC117264, MGC142283	uc001nzu.3	P30044	OTTHUMG00000168805	ENST00000265462.4:c.35C>T	11.37:g.64085722C>T	ENSP00000265462:p.Ser12Leu					TRMT112_uc001nzt.2_5'Flank|PRDX5_uc001nzv.2_Missense_Mutation_p.S12L|PRDX5_uc001nzw.2_Missense_Mutation_p.S12L|PRDX5_uc001nzx.2_5'Flank	p.S12L	NM_012094	NP_036226	P30044	PRDX5_HUMAN			1	154	+			12					A6NC19|A6NG06|B7ZLJ4|B7ZVW3|Q14CK0|Q6IAF2|Q9UBU5|Q9UJU4|Q9UKX4	Missense_Mutation	SNP	ENST00000265462.4	37	c.35C>T	CCDS8069.1	.	.	.	.	.	.	.	.	.	.	C	9.198	1.027632	0.19512	.	.	ENSG00000126432	ENST00000265462;ENST00000352435;ENST00000347941	T;T;T	0.46063	0.9;0.89;0.88	3.31	-6.62	0.01813	.	.	.	.	.	T	0.18173	0.0436	N	0.14661	0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.11641	-1.0579	9	0.28530	T	0.3	16.4706	3.4158	0.07375	0.1161:0.4398:0.1325:0.3116	.	12;12;12	A6NC19;A6NG06;P30044	.;.;PRDX5_HUMAN	L	12	ENSP00000265462:S12L;ENSP00000335334:S12L;ENSP00000335363:S12L	ENSP00000265462:S12L	S	+	2	0	PRDX5	63842298	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-3.074000	0.00617	-2.630000	0.00435	-0.518000	0.04402	TCA		0.697	PRDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401148.1		NM_181651		6	39	0	0	0	0.001984	0	6	39		
ATG2A	23130	broad.mit.edu	37	11	64669497	64669497	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:64669497G>A	ENST00000377264.3	-	29	4168	c.4056C>T	c.(4054-4056)ggC>ggT	p.G1352G	ATG2A_ENST00000421419.2_Silent_p.G1354G	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1352					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TGTCTCCATCGCCCTCCTCTT	0.627																																						uc001obx.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(4054-4056)GGC>GGT		autophagy related 2A							168.0	149.0	156.0					11																	64669497		2201	4297	6498	SO:0001819	synonymous_variant	23130						protein binding	g.chr11:64669497G>A		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.4056C>T	11.37:g.64669497G>A						ATG2A_uc001obw.2_Silent_p.G117G	p.G1352G	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN			29	4171	-			1352					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Silent	SNP	ENST00000377264.3	37	c.4056C>T	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	g	0.013	-1.641704	0.00799	.	.	ENSG00000110046	ENST00000418259	.	.	.	4.54	-2.7	0.06004	.	.	.	.	.	.	.	.	.	.	.	0.26962	N	0.965796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.7178	0.05192	0.5331:0.1912:0.1249:0.1508	.	.	.	.	X	1156	.	.	R	-	1	2	ATG2A	64426073	0.000000	0.05858	0.395000	0.26283	0.042000	0.13812	-1.077000	0.03416	-1.174000	0.02754	-3.998000	0.00013	CGA		0.627	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1		NM_015104		8	95	0	0	0	0.006214	0	8	95		
DPP3	10072	broad.mit.edu	37	11	66272161	66272161	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:66272161G>A	ENST00000360510.2	+	17	2022	c.1957G>A	c.(1957-1959)Gag>Aag	p.E653K	DPP3_ENST00000453114.1_Missense_Mutation_p.E653K|DPP3_ENST00000530165.1_Missense_Mutation_p.E623K|DPP3_ENST00000541961.1_Missense_Mutation_p.E653K|DPP3_ENST00000532677.1_Missense_Mutation_p.E672K|DPP3_ENST00000531863.1_Missense_Mutation_p.E673K			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	653					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						TGCGCCCCCCGAGTGCTTCCT	0.572																																						uc001oig.1		NaN																	0				ovary(1)|skin(1)	2						c.(1957-1959)GAG>AAG		dipeptidyl peptidase III							115.0	99.0	104.0					11																	66272161		2200	4295	6495	SO:0001583	missense	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66272161G>A	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"""dipeptidylpeptidase III"", ""dipeptidylpeptidase 3"""			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.1957G>A	11.37:g.66272161G>A	ENSP00000353701:p.Glu653Lys					DPP3_uc001oif.1_Missense_Mutation_p.E653K|DPP3_uc010rpe.1_Missense_Mutation_p.E642K|DPP3_uc001oih.1_Silent_p.P20P	p.E653K	NM_005700	NP_005691	Q9NY33	DPP3_HUMAN			17	2019	+			653					B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Missense_Mutation	SNP	ENST00000360510.2	37	c.1957G>A	CCDS8141.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.120372	0.56613	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000530165;ENST00000543807;ENST00000347422	T;T;T;T;T;T	0.18810	2.19;2.19;2.2;2.2;2.2;2.19	5.42	5.42	0.78866	.	0.239999	0.42294	D	0.000737	T	0.22085	0.0532	M	0.71036	2.16	0.34354	D	0.690229	P;P	0.37423	0.516;0.594	B;B	0.30782	0.046;0.12	T	0.35599	-0.9782	10	0.37606	T	0.19	.	11.9151	0.52761	0.0:0.0:0.8261:0.1739	.	672;653	G3V1D3;Q9NY33	.;DPP3_HUMAN	K	673;672;653;653;653;623;551;233	ENSP00000432782:E673K;ENSP00000435284:E672K;ENSP00000353701:E653K;ENSP00000389943:E653K;ENSP00000440502:E653K;ENSP00000436941:E623K	ENSP00000309957:E233K	E	+	1	0	DPP3	66028737	1.000000	0.71417	0.993000	0.49108	0.928000	0.56348	3.655000	0.54460	2.608000	0.88229	0.543000	0.68304	GAG		0.572	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2				28	73	0	0	0	0.004656	0	28	73		
PC	5091	broad.mit.edu	37	11	66617203	66617203	+	Missense_Mutation	SNP	G	G	A	rs199771464		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:66617203G>A	ENST00000393958.2	-	20	3119	c.3026C>T	c.(3025-3027)tCa>tTa	p.S1009L	PC_ENST00000393960.1_Missense_Mutation_p.S1009L|PC_ENST00000529047.1_Missense_Mutation_p.S129L|PC_ENST00000393955.2_Missense_Mutation_p.S1009L|PC_ENST00000528224.1_5'UTR	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	1009					biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CATAGCTGCTGAGAGCACATC	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		19397	0.0		0.001	False		,,,				2504	0.0					uc001ojn.1		NaN																	0				ovary(2)|lung(1)|kidney(1)	4						c.(3025-3027)TCA>TTA		pyruvate carboxylase precursor	Biotin(DB00121)|Pyruvic acid(DB00119)						116.0	91.0	99.0					11																	66617203		2200	4295	6495	SO:0001583	missense	5091				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	g.chr11:66617203G>A	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.3026C>T	11.37:g.66617203G>A	ENSP00000377530:p.Ser1009Leu					PC_uc001ojo.1_Missense_Mutation_p.S1009L|PC_uc001ojp.1_Missense_Mutation_p.S1009L|PC_uc001ojm.1_5'UTR	p.S1009L	NM_022172	NP_071504	P11498	PYC_HUMAN		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	19	3075	-		Melanoma(852;0.0525)	1009					B4DN00|Q16705	Missense_Mutation	SNP	ENST00000393958.2	37	c.3026C>T	CCDS8152.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	19.39	3.817859	0.71028	.	.	ENSG00000173599	ENST00000529047;ENST00000393955;ENST00000393958;ENST00000393960	D;D;D;D	0.96265	-1.91;-3.96;-3.96;-3.96	4.89	4.89	0.63831	Carboxylase, conserved domain (1);	0.144148	0.48767	D	0.000177	D	0.98764	0.9584	H	0.96720	3.87	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99425	1.0934	10	0.87932	D	0	-10.1236	15.5897	0.76517	0.0:0.0:1.0:0.0	.	1009	P11498	PYC_HUMAN	L	129;1009;1009;1009	ENSP00000435905:S129L;ENSP00000377527:S1009L;ENSP00000377530:S1009L;ENSP00000377532:S1009L	ENSP00000377527:S1009L	S	-	2	0	PC	66373779	1.000000	0.71417	0.952000	0.39060	0.765000	0.43378	6.005000	0.70716	2.538000	0.85594	0.462000	0.41574	TCA		0.622	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1		NM_001040716		9	43	0	0	0	0.006214	0	9	43		
RAD9A	5883	broad.mit.edu	37	11	67161232	67161232	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:67161232G>A	ENST00000307980.2	+	5	513	c.420G>A	c.(418-420)tcG>tcA	p.S140S	RNU6-1238P_ENST00000517215.1_RNA	NM_001243224.1|NM_004584.2	NP_001230153.1|NP_004575.1	Q99638	RAD9A_HUMAN	RAD9 homolog A (S. pombe)	140					cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|intra-S DNA damage checkpoint (GO:0031573)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)	checkpoint clamp complex (GO:0030896)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|enzyme binding (GO:0019899)|exodeoxyribonuclease III activity (GO:0008853)|histone deacetylase binding (GO:0042826)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)			lung(7)|upper_aerodigestive_tract(1)	8			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			ACCCAGCCTCGTGCCCCCACA	0.652								Other conserved DNA damage response genes																														uc001okr.2		NaN																	0					0						c.(418-420)TCG>TCA	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	RAD9 homolog							38.0	32.0	34.0					11																	67161232		2200	4295	6495	SO:0001819	synonymous_variant	5883				DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding	g.chr11:67161232G>A	U53174	CCDS8159.1	11q13.1-q13.2	2008-02-05	2003-07-21	2003-07-23	ENSG00000172613	ENSG00000172613			9827	protein-coding gene	gene with protein product		603761	"""RAD9 (S. pombe) homolog"""	RAD9		8943031	Standard	NM_004584		Approved		uc001okr.3	Q99638	OTTHUMG00000167670	ENST00000307980.2:c.420G>A	11.37:g.67161232G>A						RAD9A_uc001oks.2_5'Flank	p.S140S	NM_004584	NP_004575	Q99638	RAD9A_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.53e-07)		5	513	+			140					B2RCZ8|Q6FI29|Q96C41	Silent	SNP	ENST00000307980.2	37	c.420G>A	CCDS8159.1																																																																																				0.652	RAD9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395481.2		NM_004584		5	9	0	0	0	0.000602	0	5	9		
C2CD3	26005	broad.mit.edu	37	11	73849870	73849870	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:73849870G>A	ENST00000334126.7	-	5	1076	c.850C>T	c.(850-852)Ctg>Ttg	p.L284L	C2CD3_ENST00000539061.1_Silent_p.L284L|C2CD3_ENST00000313663.7_Silent_p.L284L			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	284					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GAACTGTTCAGAAGGGACATC	0.438																																						uc001ouu.2		NaN																	0				ovary(4)|pancreas(2)|skin(1)	7						c.(850-852)CTG>TTG		C2 calcium-dependent domain containing 3							142.0	125.0	131.0					11																	73849870		2200	4293	6493	SO:0001819	synonymous_variant	26005					centrosome		g.chr11:73849870G>A	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.850C>T	11.37:g.73849870G>A						C2CD3_uc001ouv.2_Silent_p.L284L	p.L284L	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN			5	1077	-	Breast(11;4.16e-06)		284					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Silent	SNP	ENST00000334126.7	37	c.850C>T																																																																																					0.438	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_015531		7	43	0	0	0	0.001984	0	7	43		
DDIAS	220042	broad.mit.edu	37	11	82643785	82643785	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:82643785A>T	ENST00000533655.1	+	6	1617	c.1405A>T	c.(1405-1407)Act>Tct	p.T469S	C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000430323.2_Missense_Mutation_p.T469S|C11orf82_ENST00000329143.3_Missense_Mutation_p.T168S|C11orf82_ENST00000528759.1_3'UTR	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		469					apoptotic process (GO:0006915)|cellular response to cytokine stimulus (GO:0071345)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to hydroperoxide (GO:0071447)|cellular response to UV (GO:0034644)|hemopoiesis (GO:0030097)|mitotic cell cycle arrest (GO:0071850)|negative regulation of fibroblast apoptotic process (GO:2000270)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						CCAGAGAACTACTGGAGCCCT	0.403																																						uc001ozt.2		NaN																	0				ovary(2)	2						c.(1405-1407)ACT>TCT		nitric oxide-inducible gene protein							72.0	71.0	71.0					11																	82643785		2203	4300	6503	SO:0001583	missense	220042				apoptosis|cell cycle arrest	cytoplasm|nucleus		g.chr11:82643785A>T																												ENST00000533655.1:c.1405A>T	11.37:g.82643785A>T	ENSP00000435421:p.Thr469Ser					C11orf82_uc010rsr.1_Missense_Mutation_p.T168S|C11orf82_uc010rss.1_Missense_Mutation_p.T168S|C11orf82_uc009yvd.2_Intron	p.T469S	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN			6	1649	+			469					Q96LK6|Q9H856	Missense_Mutation	SNP	ENST00000533655.1	37	c.1405A>T	CCDS8263.1	.	.	.	.	.	.	.	.	.	.	A	8.923	0.961574	0.18583	.	.	ENSG00000165490	ENST00000430323;ENST00000533655;ENST00000329143	T;T;T	0.30182	1.87;1.87;1.54	5.84	-2.12	0.07165	.	0.689579	0.13782	N	0.363148	T	0.23410	0.0566	L	0.59436	1.845	0.09310	N	1	B	0.32918	0.39	B	0.31290	0.127	T	0.12630	-1.0540	9	.	.	.	.	6.2968	0.21091	0.4676:0.141:0.3914:0.0	.	469	Q8IXT1	NOXIN_HUMAN	S	469;469;168	ENSP00000414687:T469S;ENSP00000435421:T469S;ENSP00000329930:T168S	.	T	+	1	0	C11orf82	82321433	0.001000	0.12720	0.001000	0.08648	0.307000	0.27823	-0.534000	0.06150	-0.668000	0.05296	0.533000	0.62120	ACT		0.403	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391936.1				19	25	0	0	0	0.010504	0	19	25		
AMOTL1	154810	broad.mit.edu	37	11	94554952	94554952	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:94554952C>T	ENST00000433060.2	+	4	1519	c.1378C>T	c.(1378-1380)Cag>Tag	p.Q460*	AMOTL1_ENST00000317829.8_Nonsense_Mutation_p.Q410*|AMOTL1_ENST00000539727.1_3'UTR|AMOTL1_ENST00000317837.9_Silent_p.F393F	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	460				LQ -> HE (in Ref. 4; AAH14126). {ECO:0000305}.	establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CCAGGAACTTCAGGGTTACTA	0.537																																						uc001pfb.2		NaN																	0				ovary(1)|breast(1)	2						c.(1378-1380)CAG>TAG		angiomotin like 1							97.0	101.0	100.0					11																	94554952		1989	4165	6154	SO:0001587	stop_gained	154810					cytoplasm|tight junction	identical protein binding	g.chr11:94554952C>T	AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"""junction-enriched and associated protein"""	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.1378C>T	11.37:g.94554952C>T	ENSP00000387739:p.Gln460*					AMOTL1_uc001pfc.2_Nonsense_Mutation_p.Q410*	p.Q460*	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN			4	1548	+		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)	460	LQ -> HE (in Ref. 2; AAH14126).		Potential.		Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Nonsense_Mutation	SNP	ENST00000433060.2	37	c.1378C>T	CCDS44712.1	.	.	.	.	.	.	.	.	.	.	C	40	8.373661	0.98781	.	.	ENSG00000166025	ENST00000317829;ENST00000542840;ENST00000433060	.	.	.	5.92	4.99	0.66335	.	0.153236	0.45606	D	0.000356	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-33.9316	15.1689	0.72854	0.0:0.7751:0.2249:0.0	.	.	.	.	X	410;466;460	.	ENSP00000320968:Q410X	Q	+	1	0	AMOTL1	94194600	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.185000	0.50934	2.813000	0.96785	0.561000	0.74099	CAG		0.537	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3		NM_130847		27	33	0	0	0	0.012213	0	27	33		
EXPH5	23086	broad.mit.edu	37	11	108383163	108383163	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:108383163C>G	ENST00000265843.4	-	6	3181	c.3071G>C	c.(3070-3072)aGa>aCa	p.R1024T	EXPH5_ENST00000525344.1_Missense_Mutation_p.R1017T|EXPH5_ENST00000443411.1_Missense_Mutation_p.R836T|EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000428840.1_Missense_Mutation_p.R948T	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1024					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GCTTGATTTTCTTGGCAAGGT	0.398																																						uc001pkk.2		NaN																	0				skin(3)|ovary(2)	5						c.(3070-3072)AGA>ACA		exophilin 5 isoform a							82.0	77.0	79.0					11																	108383163		2201	4298	6499	SO:0001583	missense	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108383163C>G		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.3071G>C	11.37:g.108383163C>G	ENSP00000265843:p.Arg1024Thr					EXPH5_uc010rvy.1_Missense_Mutation_p.R836T|EXPH5_uc010rvz.1_Missense_Mutation_p.R868T|EXPH5_uc010rwa.1_Missense_Mutation_p.R948T	p.R1024T	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	3182	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	1024					Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	c.3071G>C	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.746473	0.49257	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.12774	3.23;3.14;3.0;3.23;2.98;2.65	5.92	5.0	0.66597	.	0.078112	0.56097	N	0.000034	T	0.36276	0.0961	M	0.71581	2.175	0.32634	N	0.521588	D	0.89917	1.0	D	0.91635	0.999	T	0.51537	-0.8693	10	0.49607	T	0.09	-17.5324	14.1616	0.65450	0.0:0.85:0.15:0.0	.	1024	Q8NEV8	EXPH5_HUMAN	T	1024;948;836;1017;948;836	ENSP00000265843:R1024T;ENSP00000391966:R948T;ENSP00000411390:R836T;ENSP00000432546:R1017T;ENSP00000432683:R948T;ENSP00000446434:R836T	ENSP00000265843:R1024T	R	-	2	0	EXPH5	107888373	1.000000	0.71417	0.984000	0.44739	0.066000	0.16364	3.086000	0.50159	1.486000	0.48398	0.655000	0.94253	AGA		0.398	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1		NM_015065		21	23	0	0	0	0.014323	0	21	23		
C11orf53	341032	broad.mit.edu	37	11	111154990	111154990	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:111154990G>A	ENST00000280325.4	+	3	344	c.197G>A	c.(196-198)gGa>gAa	p.G66E		NM_198498.1	NP_940900.1	Q8IXP5	CK053_HUMAN	chromosome 11 open reading frame 53	66										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		GAGCCCTACGGAGACTACCGG	0.697																																						uc001plc.2		NaN																	0					0						c.(196-198)GGA>GAA		hypothetical protein LOC341032							49.0	55.0	53.0					11																	111154990		2201	4297	6498	SO:0001583	missense	341032							g.chr11:111154990G>A	BC039669	CCDS31674.1	11q23.1	2012-05-31			ENSG00000150750	ENSG00000150750			30527	protein-coding gene	gene with protein product						12477932	Standard	NM_198498		Approved	MGC50104	uc001plc.3	Q8IXP5	OTTHUMG00000166656	ENST00000280325.4:c.197G>A	11.37:g.111154990G>A	ENSP00000280325:p.Gly66Glu						p.G66E	NM_198498	NP_940900	Q8IXP5	CK053_HUMAN		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)	3	344	+		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)	66						Missense_Mutation	SNP	ENST00000280325.4	37	c.197G>A	CCDS31674.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.106584	0.56291	.	.	ENSG00000150750	ENST00000280325	.	.	.	5.66	2.72	0.32119	.	0.118034	0.56097	D	0.000031	T	0.69815	0.3153	M	0.72894	2.215	0.52099	D	0.999945	D	0.71674	0.998	D	0.68039	0.955	T	0.67296	-0.5706	9	0.46703	T	0.11	-11.183	10.1237	0.42637	0.0724:0.2729:0.6547:0.0	.	66	Q8IXP5	CK053_HUMAN	E	66	.	ENSP00000280325:G66E	G	+	2	0	C11orf53	110660200	0.958000	0.32768	0.117000	0.21633	0.110000	0.19582	1.576000	0.36504	0.305000	0.22832	0.591000	0.81541	GGA		0.697	C11orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390989.1		NM_198498		44	28	0	0	0	0.009718	0	44	28		
SNX19	399979	broad.mit.edu	37	11	130773221	130773221	+	Silent	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:130773221T>C	ENST00000265909.4	-	8	3071	c.2502A>G	c.(2500-2502)gaA>gaG	p.E834E	SNX19_ENST00000545537.1_Silent_p.E74E|SNX19_ENST00000528555.1_Silent_p.E214E|SNX19_ENST00000534726.1_Silent_p.E74E|SNX19_ENST00000533318.1_5'UTR|SNX19_ENST00000530356.1_Silent_p.E214E|SNX19_ENST00000539184.1_Silent_p.E277E	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	834					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		ATTTCCACTGTTCTGTTAGTA	0.453																																						uc001qgk.3		NaN																	0				ovary(2)|lung(2)	4						c.(2500-2502)GAA>GAG		sorting nexin 19							132.0	115.0	121.0					11																	130773221		2201	4297	6498	SO:0001819	synonymous_variant	399979				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr11:130773221T>C	D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"""Sorting nexins"""	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.2502A>G	11.37:g.130773221T>C						SNX19_uc009zcw.2_Silent_p.E71E|SNX19_uc010sce.1_Silent_p.E214E|SNX19_uc010scf.1_Silent_p.E277E|SNX19_uc010scg.1_Silent_p.E71E	p.E834E	NM_014758	NP_055573	Q92543	SNX19_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)	8	3050	-	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)	834					E9PKB9|Q8IV55	Silent	SNP	ENST00000265909.4	37	c.2502A>G	CCDS31721.1																																																																																				0.453	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385649.1		NM_014758		18	24	0	0	0	0.00499	0	18	24		
RAD52	5893	broad.mit.edu	37	12	1025884	1025884	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:1025884G>A	ENST00000358495.3	-	8	784	c.646C>T	c.(646-648)Cac>Tac	p.H216Y	RAD52_ENST00000539046.1_Missense_Mutation_p.H139Y|RAD52_ENST00000430095.2_Missense_Mutation_p.H216Y|RAD52_ENST00000536177.1_Missense_Mutation_p.H216Y|RAD52_ENST00000535376.1_5'Flank	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	216					DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			AGCTGTGGGTGTCCCAGGGCC	0.582								Homologous recombination																														uc001qis.1		NaN																	0				central_nervous_system(1)	1						c.(646-648)CAC>TAC	Homologous_recombination	RAD52 homolog							99.0	106.0	103.0					12																	1025884		2099	4211	6310	SO:0001583	missense	5893				DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding	g.chr12:1025884G>A		CCDS8507.2	12p13-p12.2	2008-08-05	2001-11-28		ENSG00000002016	ENSG00000002016			9824	protein-coding gene	gene with protein product		600392	"""RAD52 (S. cerevisiae) homolog"""			7774919, 18313388	Standard	XM_005253721		Approved		uc001qis.1	P43351	OTTHUMG00000090361	ENST00000358495.3:c.646C>T	12.37:g.1025884G>A	ENSP00000351284:p.His216Tyr					RAD52_uc001qit.1_RNA|RAD52_uc010sdt.1_Missense_Mutation_p.H139Y|RAD52_uc001qiu.1_Missense_Mutation_p.H216Y|RAD52_uc001qiv.1_RNA|RAD52_uc001qiw.1_RNA|RAD52_uc010sdu.1_Missense_Mutation_p.H216Y	p.H216Y	NM_134424	NP_602296	P43351	RAD52_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)		8	760	-	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		216					Q13205|Q9Y5T7|Q9Y5T8|Q9Y5T9	Missense_Mutation	SNP	ENST00000358495.3	37	c.646C>T	CCDS8507.2	.	.	.	.	.	.	.	.	.	.	G	0.792	-0.758521	0.03019	.	.	ENSG00000002016	ENST00000358495;ENST00000430095;ENST00000539046;ENST00000536177	T;T;T;T	0.30714	1.97;1.97;1.55;1.52	4.76	2.88	0.33553	.	0.918698	0.09469	N	0.797924	T	0.21962	0.0529	L	0.36672	1.1	0.09310	N	1	B;B	0.26935	0.164;0.102	B;B	0.15052	0.012;0.007	T	0.14727	-1.0462	10	0.02654	T	1	-20.146	14.1428	0.65331	0.0:0.4292:0.5708:0.0	.	216;216	F5GX32;P43351	.;RAD52_HUMAN	Y	216;216;139;216	ENSP00000351284:H216Y;ENSP00000387901:H216Y;ENSP00000445245:H139Y;ENSP00000440486:H216Y	ENSP00000351284:H216Y	H	-	1	0	RAD52	896145	0.011000	0.17503	0.008000	0.14137	0.188000	0.23474	1.740000	0.38228	0.708000	0.31955	0.561000	0.74099	CAC		0.582	RAD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206733.2		NM_134424		13	42	0	0	0	0.001855	0	13	42		
CACNA2D4	93589	broad.mit.edu	37	12	2017134	2017134	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:2017134C>T	ENST00000382722.5	-	5	918	c.556G>A	c.(556-558)Gag>Aag	p.E186K	CACNA2D4_ENST00000586184.1_Missense_Mutation_p.E186K|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.E122K|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.E186K|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.E122K|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.E186K	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	186					calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		AGGAGGAACTCGGCGCCCAGC	0.602																																					Colon(2;101 179 21030 23310 28141)	uc001qjp.2		NaN																	0				ovary(1)	1						c.(556-558)GAG>AAG		voltage-gated calcium channel alpha(2)delta-4							57.0	63.0	61.0					12																	2017134		2120	4232	6352	SO:0001583	missense	93589					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr12:2017134C>T	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.556G>A	12.37:g.2017134C>T	ENSP00000372169:p.Glu186Lys					CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Missense_Mutation_p.E186K	p.E186K	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)	5	787	-	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	186			Extracellular (Potential).		Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	ENST00000382722.5	37	c.556G>A	CCDS44785.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622948	0.87460	.	.	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	T	0.07327	3.2	5.23	5.23	0.72850	VWA N-terminal (1);	0.045604	0.85682	D	0.000000	T	0.32882	0.0844	M	0.84082	2.675	0.32843	D	0.505684	P;D	0.76494	0.937;0.999	P;D	0.71184	0.463;0.972	T	0.39961	-0.9588	10	0.45353	T	0.12	.	18.7694	0.91885	0.0:1.0:0.0:0.0	.	186;186	Q7Z3S7-2;Q7Z3S7	.;CA2D4_HUMAN	K	122;186;186	ENSP00000372169:E186K	ENSP00000280663:E186K	E	-	1	0	CACNA2D4	1887395	1.000000	0.71417	0.959000	0.39883	0.647000	0.38526	4.674000	0.61612	2.596000	0.87737	0.561000	0.74099	GAG		0.602	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2				20	42	0	0	0	0.010504	0	20	42		
CACNA1C	775	broad.mit.edu	37	12	2795357	2795357	+	Silent	SNP	A	A	G	rs537002656	byFrequency	TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:2795357A>G	ENST00000347598.4	+	47	5850	c.5850A>G	c.(5848-5850)gaA>gaG	p.E1950E	CACNA1C_ENST00000327702.7_Silent_p.E1937E|CACNA1C_ENST00000399634.1_Silent_p.E1973E|CACNA1C_ENST00000399591.1_Silent_p.E1910E|CACNA1C_ENST00000406454.3_Silent_p.E1973E|CACNA1C_ENST00000399621.1_Silent_p.E1921E|CACNA1C_ENST00000399617.1_Silent_p.E1937E|CACNA1C_ENST00000399644.1_Silent_p.E1902E|CACNA1C_ENST00000399649.1_Silent_p.E1908E|CACNA1C_ENST00000399603.1_Silent_p.E1902E|CACNA1C_ENST00000399655.1_Silent_p.E1902E|CACNA1C_ENST00000399601.1_Silent_p.E1902E|CACNA1C_ENST00000402845.3_Silent_p.E1921E|CACNA1C_ENST00000335762.5_Silent_p.E1927E|CACNA1C_ENST00000399641.1_Silent_p.E1902E|CACNA1C_ENST00000399629.1_Silent_p.E1919E|CACNA1C_ENST00000344100.3_Silent_p.E1943E|CACNA1C_ENST00000399638.1_Silent_p.E1930E|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399637.1_Silent_p.E1921E|CACNA1C_ENST00000399597.1_Silent_p.E1902E|CACNA1C_ENST00000399606.1_Silent_p.E1922E|CACNA1C_ENST00000399595.1_Silent_p.E1910E	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1985					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCCACCTGGAATGTCTGAAGC	0.562													a|||	2	0.000399361	0.0	0.0	5008	,	,		20715	0.0		0.0	False		,,,				2504	0.002					uc009zdu.1		NaN																	0				ovary(10)|central_nervous_system(1)	11						c.(5953-5955)GAA>GAG		calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						101.0	105.0	103.0					12																	2795357		2000	4179	6179	SO:0001819	synonymous_variant	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2795357A>G	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.5850A>G	12.37:g.2795357A>G						CACNA1C_uc009zdv.1_Silent_p.E1899E|CACNA1C_uc001qkb.2_Silent_p.E1902E|CACNA1C_uc001qkc.2_Silent_p.E1921E|CACNA1C_uc001qke.2_Silent_p.E1891E|CACNA1C_uc001qkf.2_Silent_p.E1910E|CACNA1C_uc001qjz.2_Silent_p.E1902E|CACNA1C_uc001qkd.2_Silent_p.E1921E|CACNA1C_uc001qkg.2_Silent_p.E1908E|CACNA1C_uc009zdw.1_Silent_p.E1943E|CACNA1C_uc001qkh.2_Silent_p.E1910E|CACNA1C_uc001qkl.2_Silent_p.E1950E|CACNA1C_uc001qkn.2_Silent_p.E1902E|CACNA1C_uc001qko.2_Silent_p.E1922E|CACNA1C_uc001qkp.2_Silent_p.E1902E|CACNA1C_uc001qkr.2_Silent_p.E1919E|CACNA1C_uc001qku.2_Silent_p.E1937E|CACNA1C_uc001qkq.2_Silent_p.E1930E|CACNA1C_uc001qks.2_Silent_p.E1902E|CACNA1C_uc001qkt.2_Silent_p.E1921E|CACNA1C_uc001qki.1_Silent_p.E1709E|CACNA1C_uc001qkj.1_Silent_p.E1673E|CACNA1C_uc001qkk.1_Silent_p.E1638E|CACNA1C_uc001qkm.1_Silent_p.E1698E|CACNA1C_uc010sea.1_Silent_p.E593E|uc001qkx.1_Intron|CACNA1C_uc001qky.1_Silent_p.E220E	p.E1985E	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	48	6268	+			1985			Cytoplasmic (Potential).		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	ENST00000347598.4	37	c.5955A>G	CCDS44788.1																																																																																				0.562	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1		NM_000719		25	81	0	0	0	0.004656	0	25	81		
TNFRSF1A	7132	broad.mit.edu	37	12	6442925	6442925	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:6442925G>A	ENST00000162749.2	-	3	599	c.300C>T	c.(298-300)ctC>ctT	p.L100L	TNFRSF1A_ENST00000366159.4_Silent_p.L100L|TNFRSF1A_ENST00000540022.1_Intron|TNFRSF1A_ENST00000437813.3_5'UTR	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	100					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|positive regulation of angiogenesis (GO:0045766)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|prostaglandin metabolic process (GO:0006693)|protein heterooligomerization (GO:0051291)|response to alkaloid (GO:0043279)|response to amino acid (GO:0043200)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|tetrapyrrole metabolic process (GO:0033013)|viral process (GO:0016032)	axon (GO:0030424)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	tumor necrosis factor-activated receptor activity (GO:0005031)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						TGGAGCAGCTGAGGCAGTGTC	0.592																																						uc001qnu.2		NaN																	0				lung(2)|skin(1)	3						c.(298-300)CTC>CTT		tumor necrosis factor receptor 1 precursor							63.0	53.0	57.0					12																	6442925		2202	4297	6499	SO:0001819	synonymous_variant	7132				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity	g.chr12:6442925G>A	M75866	CCDS8542.1	12p13.2	2014-09-17			ENSG00000067182	ENSG00000067182		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11916	protein-coding gene	gene with protein product		191190		TNFR1		1655358, 2158863	Standard	NM_001065		Approved	TNF-R, TNFAR, TNFR60, TNF-R-I, CD120a, TNF-R55	uc001qnu.3	P19438	OTTHUMG00000168267	ENST00000162749.2:c.300C>T	12.37:g.6442925G>A						TNFRSF1A_uc001qnt.2_5'UTR|TNFRSF1A_uc010sey.1_Intron|TNFRSF1A_uc010sez.1_5'UTR|TNFRSF1A_uc009zek.2_Intron|TNFRSF1A_uc010sfa.1_Silent_p.L100L	p.L100L	NM_001065	NP_001056	P19438	TNR1A_HUMAN			3	581	-			100			TNFR-Cys 2.|Extracellular (Potential).		A8K4X3|B2RDE4|B3KPQ1|B4DQB7|B4E309|B5M0B5|D3DUR1|Q9UCA4	Silent	SNP	ENST00000162749.2	37	c.300C>T	CCDS8542.1																																																																																				0.592	TNFRSF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399038.1		NM_001065		3	3	0	0	0	0.004672	0	3	3		
NOP2	4839	broad.mit.edu	37	12	6675746	6675746	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:6675746T>C	ENST00000322166.5	-	4	308	c.187A>G	c.(187-189)Aag>Gag	p.K63E	NOP2_ENST00000537442.1_Missense_Mutation_p.K63E|NOP2_ENST00000540228.1_Missense_Mutation_p.K63E|NOP2_ENST00000382421.3_Missense_Mutation_p.K63E|NOP2_ENST00000542015.1_Intron|NOP2_ENST00000541778.1_Missense_Mutation_p.K63E|NOP2_ENST00000399466.2_Missense_Mutation_p.K63E|NOP2_ENST00000545915.1_Missense_Mutation_p.K63E|NOP2_ENST00000545200.1_Missense_Mutation_p.K63E	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein	63					positive regulation of cell proliferation (GO:0008284)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						TTATTTGTCTTAGGGGCTTCA	0.488																																						uc001qpk.1		NaN																	0				ovary(2)	2						c.(187-189)AAG>GAG		Homo sapiens cDNA FLJ31646 fis, clone NT2RI2003921, highly similar to PROLIFERATING-CELL NUCLEOLAR ANTIGEN P120.							69.0	66.0	67.0					12																	6675746		1849	4091	5940	SO:0001583	missense	4839				positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity	g.chr12:6675746T>C		CCDS44811.1, CCDS58202.1, CCDS58203.1, CCDS58204.1	12p13	2012-12-10	2012-12-10	2008-10-13	ENSG00000111641	ENSG00000111641		"""NOP2/Sun domain containing"""	7867	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 1"""	164031	"""nucleolar protein 1 (120kD)"", ""nucleolar protein 1, 120kDa"", ""nucleolar protein 2 homolog (yeast)"", ""NOP2 nucleolar protein homolog (yeast)"""	NOL1		8088812	Standard	NM_006170		Approved	NOP120, NSUN1, p120	uc021qtz.2	P46087	OTTHUMG00000169163	ENST00000322166.5:c.187A>G	12.37:g.6675746T>C	ENSP00000313272:p.Lys63Glu					NOP2_uc001qph.1_Missense_Mutation_p.K63E|NOP2_uc001qpi.1_Missense_Mutation_p.K63E|NOP2_uc001qpj.1_Intron|NOP2_uc001qpl.1_Missense_Mutation_p.K63E|NOP2_uc001qpm.1_Missense_Mutation_p.K63E	p.K63E			P46087	NOP2_HUMAN			3	231	-			63					A1A4Z3|B3KPD6|Q05BA7|Q0P5S5|Q3KQS4|Q58F30	Missense_Mutation	SNP	ENST00000322166.5	37	c.187A>G	CCDS58203.1	.	.	.	.	.	.	.	.	.	.	T	0.005	-2.186126	0.00305	.	.	ENSG00000111641	ENST00000537442;ENST00000382421;ENST00000545200;ENST00000399466;ENST00000322166;ENST00000541778;ENST00000542867;ENST00000536124;ENST00000545492;ENST00000545915;ENST00000540228	T;T;T;T;T;T;T;T;T;T;T	0.43688	2.52;2.49;2.56;2.54;2.52;2.54;1.0;0.96;0.94;0.94;0.94	4.59	-0.21	0.13176	.	0.622819	0.16815	N	0.198396	T	0.18882	0.0453	N	0.11560	0.145	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.21484	-1.0244	10	0.19147	T	0.46	-2.0643	7.3259	0.26555	0.0:0.4411:0.0:0.5589	.	63;63	Q3KQS4;P46087-2	.;.	E	63	ENSP00000444437:K63E;ENSP00000371858:K63E;ENSP00000439422:K63E;ENSP00000382392:K63E;ENSP00000313272:K63E;ENSP00000443150:K63E;ENSP00000443035:K63E;ENSP00000442895:K63E;ENSP00000441923:K63E;ENSP00000442742:K63E;ENSP00000445402:K63E	ENSP00000313272:K63E	K	-	1	0	NOP2	6546007	0.003000	0.15002	0.000000	0.03702	0.008000	0.06430	0.253000	0.18296	-0.192000	0.10432	-0.411000	0.06167	AAG		0.488	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402614.1		NM_006170		25	34	0	0	0	0.00632	0	25	34		
C1RL	51279	broad.mit.edu	37	12	7244200	7244200	+	IGR	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:7244200C>T	ENST00000266542.4	-	0	3394				C1R_ENST00000542285.1_Missense_Mutation_p.G26R	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like						complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GTCACCTCCCCAAATAACTTC	0.537																																						uc010sfy.1		NaN																	0					0						c.(79-81)GGG>AGG		complement component 1, r subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						49.0	50.0	50.0					12																	7244200		1949	4130	6079	SO:0001628	intergenic_variant	715				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7244200C>T	AF178985	CCDS8573.1, CCDS73431.1	12p13.31	2008-02-05				ENSG00000139178			21265	protein-coding gene	gene with protein product		608974				12838346	Standard	XM_005253385		Approved	C1r-LP, C1RL1	uc001qsn.3	Q9NZP8			12.37:g.7244200C>T						C1R_uc010sfz.1_Missense_Mutation_p.G41R|C1R_uc010sga.1_Missense_Mutation_p.G27R	p.G27R	NM_001733	NP_001724	P00736	C1R_HUMAN			2	138	-			27			CUB 1.		Q53GX9	Missense_Mutation	SNP	ENST00000266542.4	37	c.79G>A	CCDS8573.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.949299	0.92660	.	.	ENSG00000159403	ENST00000542220;ENST00000536053;ENST00000535233;ENST00000290575;ENST00000542285;ENST00000543835;ENST00000540242	T;T;T	0.57907	0.72;0.37;0.72	5.28	5.28	0.74379	CUB (5);	0.000000	0.64402	D	0.000001	T	0.75488	0.3856	.	.	.	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.995;1.0	T	0.78365	-0.2232	9	0.87932	D	0	.	19.0957	0.93249	0.0:1.0:0.0:0.0	.	27;41;27	F5H2D0;B4DPQ0;P00736	.;.;C1R_HUMAN	R	27;41;27;41;26;27;27	ENSP00000438615:G26R;ENSP00000445285:G27R;ENSP00000442946:G27R	ENSP00000290575:G41R	G	-	1	0	C1R	7135341	1.000000	0.71417	0.974000	0.42286	0.924000	0.55760	5.905000	0.69893	2.755000	0.94549	0.655000	0.94253	GGG		0.537	C1RL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398367.1		NM_016546		4	3	0	0	0	0.009096	0	4	3		
DUSP16	80824	broad.mit.edu	37	12	12674023	12674023	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:12674023C>T	ENST00000228862.2	-	2	641	c.10G>A	c.(10-12)Gag>Aag	p.E4K	DUSP16_ENST00000298573.4_Missense_Mutation_p.E4K	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	4					dephosphorylation (GO:0016311)|inactivation of MAPK activity (GO:0000188)|MAPK export from nucleus (GO:0045204)|MAPK phosphatase export from nucleus, leptomycin B sensitive (GO:0045209)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|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)			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		CCAATCATCTCATGGGCCATG	0.453																																					Ovarian(158;443 1896 15437 36069 46477)	uc001rao.1		NaN																	0					0						c.(10-12)GAG>AAG		dual specificity phosphatase 16							130.0	109.0	116.0					12																	12674023		2203	4300	6503	SO:0001583	missense	80824				inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr12:12674023C>T	AB052156	CCDS8650.1	12p13	2011-06-09				ENSG00000111266		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	17909	protein-coding gene	gene with protein product	"""MAPK phosphatase-7"""	607175				11359773, 11489891, 15888437	Standard	NM_030640		Approved	MKP-7, KIAA1700, MKP7	uc001rao.2	Q9BY84		ENST00000228862.2:c.10G>A	12.37:g.12674023C>T	ENSP00000228862:p.Glu4Lys					DUSP16_uc001ran.1_5'UTR	p.E4K	NM_030640	NP_085143	Q9BY84	DUS16_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0203)	2	642	-		Prostate(47;0.0687)	4					Q547C7|Q96QS2|Q9C0G3	Missense_Mutation	SNP	ENST00000228862.2	37	c.10G>A	CCDS8650.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.927266	0.34002	.	.	ENSG00000111266	ENST00000228862;ENST00000298573;ENST00000539940;ENST00000541207	T;T;T	0.76839	4.5;1.38;-1.05	5.64	4.75	0.60458	.	0.188411	0.31531	N	0.007490	T	0.70219	0.3199	L	0.36672	1.1	0.37718	D	0.924826	B	0.28439	0.212	B	0.30316	0.114	T	0.74169	-0.3752	10	0.62326	D	0.03	.	13.988	0.64348	0.0:0.9277:0.0:0.0723	.	4	Q9BY84	DUS16_HUMAN	K	4	ENSP00000228862:E4K;ENSP00000298573:E4K;ENSP00000443039:E4K	ENSP00000228862:E4K	E	-	1	0	DUSP16	12565290	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.695000	0.47043	2.652000	0.90054	0.655000	0.94253	GAG		0.453	DUSP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400311.1		NM_030640		11	17	0	0	0	0.010729	0	11	17		
PDE3A	5139	broad.mit.edu	37	12	20523043	20523043	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:20523043G>A	ENST00000359062.3	+	1	865	c.825G>A	c.(823-825)ctG>ctA	p.L275L	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	275					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)	p.L275L(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	GGTCCCAGCTGATTGCTGGGA	0.627																																						uc001reh.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(823-825)CTG>CTA		phosphodiesterase 3A	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						26.0	32.0	30.0					12																	20523043		2192	4269	6461	SO:0001819	synonymous_variant	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20523043G>A		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.825G>A	12.37:g.20523043G>A							p.L275L	NM_000921	NP_000912	Q14432	PDE3A_HUMAN			1	847	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	275					O60865|Q13348|Q17RD1	Silent	SNP	ENST00000359062.3	37	c.825G>A	CCDS31754.1																																																																																				0.627	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2				23	41	0	0	0	0.008361	0	23	41		
PDE3A	5139	broad.mit.edu	37	12	20799433	20799433	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:20799433G>A	ENST00000359062.3	+	11	2301	c.2261G>A	c.(2260-2262)aGa>aAa	p.R754K	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	754	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	GATCATAACAGAATCCATGCC	0.413																																						uc001reh.1		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(2260-2262)AGA>AAA		phosphodiesterase 3A	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						182.0	153.0	163.0					12																	20799433		2203	4300	6503	SO:0001583	missense	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20799433G>A		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.2261G>A	12.37:g.20799433G>A	ENSP00000351957:p.Arg754Lys						p.R754K	NM_000921	NP_000912	Q14432	PDE3A_HUMAN			11	2283	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	754			Catalytic (By similarity).		O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.2261G>A	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419607	0.83559	.	.	ENSG00000172572	ENST00000359062	T	0.76578	-1.03	5.94	5.05	0.67936	Metal-dependent phosphohydrolase, HD domain (1);5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.047315	0.85682	N	0.000000	D	0.83936	0.5362	L	0.56396	1.775	0.48975	D	0.999739	D	0.76494	0.999	P	0.62813	0.907	D	0.83435	0.0040	10	0.38643	T	0.18	.	14.6441	0.68748	0.0699:0.0:0.9301:0.0	.	754	Q14432	PDE3A_HUMAN	K	754	ENSP00000351957:R754K	ENSP00000351957:R754K	R	+	2	0	PDE3A	20690700	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	6.373000	0.73128	1.527000	0.49086	0.637000	0.83480	AGA		0.413	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2				27	35	0	0	0	0.008361	0	27	35		
DENND5B	160518	broad.mit.edu	37	12	31595714	31595714	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:31595714A>C	ENST00000389082.5	-	7	2271	c.2007T>G	c.(2005-2007)agT>agG	p.S669R	DENND5B_ENST00000354285.4_Missense_Mutation_p.S691R|DENND5B_ENST00000536562.1_Missense_Mutation_p.S704R|DENND5B_ENST00000306833.6_Missense_Mutation_p.S704R	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	669					positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CTTACTTGTTACTGGTTGGTC	0.418																																						uc001rki.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(2005-2007)AGT>AGG		DENN/MADD domain containing 5B							94.0	87.0	89.0					12																	31595714		1927	4140	6067	SO:0001583	missense	160518					integral to membrane		g.chr12:31595714A>C	AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.2007T>G	12.37:g.31595714A>C	ENSP00000373734:p.Ser669Arg					DENND5B_uc001rkh.1_Missense_Mutation_p.S704R|DENND5B_uc009zjq.1_Intron|DENND5B_uc001rkj.2_Missense_Mutation_p.S691R	p.S669R	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN			7	2193	-			669					B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	ENST00000389082.5	37	c.2007T>G	CCDS44857.1	.	.	.	.	.	.	.	.	.	.	A	12.25	1.882127	0.33255	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562;ENST00000354285	T;T;T;T	0.06687	3.69;3.79;3.79;3.27	4.77	1.14	0.20703	.	0.118236	0.53938	D	0.000041	T	0.06508	0.0167	L	0.40543	1.245	0.23445	N	0.99767	P;B;B	0.39665	0.682;0.014;0.024	B;B;B	0.37650	0.255;0.007;0.042	T	0.37407	-0.9707	10	0.19147	T	0.46	-10.4294	9.2259	0.37407	0.754:0.0:0.246:0.0	.	691;669;704	Q6ZUT9-4;Q6ZUT9;G3V1S3	.;DEN5B_HUMAN;.	R	669;704;704;691	ENSP00000373734:S669R;ENSP00000306482:S704R;ENSP00000444889:S704R;ENSP00000346238:S691R	ENSP00000306482:S704R	S	-	3	2	DENND5B	31486981	0.999000	0.42202	1.000000	0.80357	0.974000	0.67602	0.614000	0.24314	0.344000	0.23847	-0.326000	0.08463	AGT		0.418	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1		NM_144973		6	20	0	0	0	0.001984	0	6	20		
YARS2	51067	broad.mit.edu	37	12	32906904	32906904	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:32906904G>A	ENST00000324868.8	-	2	922	c.895C>T	c.(895-897)Cca>Tca	p.P299S		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	299					gene expression (GO:0010467)|mitochondrial tyrosyl-tRNA aminoacylation (GO:0070184)|translation (GO:0006412)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)|tyrosine binding (GO:0072545)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	AATTCAAATGGAGATGTCTTA	0.418																																						uc001rli.2		NaN																	0					0						c.(895-897)CCA>TCA		tyrosyl-tRNA synthetase 2, mitochondrial	L-Tyrosine(DB00135)						150.0	138.0	142.0					12																	32906904		2203	4300	6503	SO:0001583	missense	51067				tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity	g.chr12:32906904G>A	AF132939	CCDS31770.1	12p11.21	2014-03-19	2007-02-23		ENSG00000139131	ENSG00000139131	6.1.1.1	"""Aminoacyl tRNA synthetases / Class I"""	24249	protein-coding gene	gene with protein product	"""tyrosine tRNA ligase 2, mitochondrial"""	610957				15779907, 15840810	Standard	NM_001040436		Approved	FLJ13995, CGI-04, mt-TyrRS	uc001rli.3	Q9Y2Z4	OTTHUMG00000169454	ENST00000324868.8:c.895C>T	12.37:g.32906904G>A	ENSP00000320658:p.Pro299Ser						p.P299S	NM_001040436	NP_001035526	Q9Y2Z4	SYYM_HUMAN			2	961	-	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		299					D3DUW8|Q9H817	Missense_Mutation	SNP	ENST00000324868.8	37	c.895C>T	CCDS31770.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.895876	0.91962	.	.	ENSG00000139131	ENST00000324868	T	0.52983	0.64	5.33	5.33	0.75918	.	0.063690	0.64402	D	0.000005	T	0.63165	0.2488	M	0.71581	2.175	0.80722	D	1	D	0.62365	0.991	P	0.54965	0.765	T	0.67385	-0.5684	10	0.87932	D	0	-24.4349	17.637	0.88125	0.0:0.0:1.0:0.0	.	299	Q9Y2Z4	SYYM_HUMAN	S	299	ENSP00000320658:P299S	ENSP00000320658:P299S	P	-	1	0	YARS2	32798171	1.000000	0.71417	0.986000	0.45419	0.960000	0.62799	6.375000	0.73137	2.673000	0.90976	0.650000	0.86243	CCA		0.418	YARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404153.1		NM_015936		33	69	0	0	0	0.003755	0	33	69		
SLC2A13	114134	broad.mit.edu	37	12	40499284	40499284	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:40499284G>A	ENST00000280871.4	-	1	377	c.327C>T	c.(325-327)ctC>ctT	p.L109L	SLC2A13_ENST00000380858.1_Silent_p.L109L	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	109					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				GCTGCCGCTTGAGCAGCAGCA	0.697										HNSCC(50;0.14)																												uc010skm.1		NaN																	0				ovary(1)	1						c.(325-327)CTC>CTT		solute carrier family 2 (facilitated glucose							10.0	10.0	10.0					12																	40499284		2163	4235	6398	SO:0001819	synonymous_variant	114134					integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity	g.chr12:40499284G>A	AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229		"""Solute carriers"""	15956	protein-coding gene	gene with protein product	"""H(+)-myo-inositol symporter"""	611036				11500374	Standard	NM_052885		Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.327C>T	12.37:g.40499284G>A		HNSCC(50;0.14)				SLC2A13_uc001rmf.2_Silent_p.L109L	p.L109L	NM_052885	NP_443117	Q96QE2	MYCT_HUMAN			1	378	-		Lung NSC(34;0.105)|all_lung(34;0.123)	109			Extracellular (Potential).		Q17S07	Silent	SNP	ENST00000280871.4	37	c.327C>T	CCDS8736.2																																																																																				0.697	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132849.2				3	3	0	0	0	0.004672	0	3	3		
LRRK2	120892	broad.mit.edu	37	12	40748212	40748212	+	Missense_Mutation	SNP	G	G	A	rs201317931		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:40748212G>A	ENST00000298910.7	+	45	6746	c.6688G>A	c.(6688-6690)Gaa>Aaa	p.E2230K		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2230					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CATCAATACCGAAGATGGGAA	0.408																																						uc001rmg.3		NaN																	0				ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24						c.(6688-6690)GAA>AAA		leucine-rich repeat kinase 2							123.0	106.0	112.0					12																	40748212		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40748212G>A	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.6688G>A	12.37:g.40748212G>A	ENSP00000298910:p.Glu2230Lys					LRRK2_uc009zjw.2_Missense_Mutation_p.E1068K|LRRK2_uc001rmi.2_Missense_Mutation_p.E1063K	p.E2230K	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			45	6809	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	2230					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.6688G>A	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	7.737	0.700507	0.15106	.	.	ENSG00000188906	ENST00000298910	T	0.35605	1.3	5.95	4.08	0.47627	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.400623	0.30791	N	0.008865	T	0.27489	0.0675	L	0.60455	1.87	0.33054	D	0.533171	B;B	0.34061	0.436;0.436	B;B	0.24541	0.054;0.054	T	0.33523	-0.9865	10	0.11182	T	0.66	.	10.5795	0.45246	0.0673:0.2513:0.6814:0.0	.	2230;2230	Q17RV3;Q5S007	.;LRRK2_HUMAN	K	2230	ENSP00000298910:E2230K	ENSP00000298910:E2230K	E	+	1	0	LRRK2	39034479	0.986000	0.35501	0.426000	0.26672	0.705000	0.40729	2.006000	0.40874	0.820000	0.34516	0.585000	0.79938	GAA		0.408	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1		XM_058513		8	23	0	0	0	0.00308	0	8	23		
CNTN1	1272	broad.mit.edu	37	12	41327360	41327360	+	Silent	SNP	A	A	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:41327360A>T	ENST00000551295.2	+	8	918	c.801A>T	c.(799-801)ggA>ggT	p.G267G	CNTN1_ENST00000360099.3_Silent_p.G267G|CNTN1_ENST00000348761.2_Silent_p.G256G|CNTN1_ENST00000547702.1_Silent_p.G267G|CNTN1_ENST00000547849.1_Silent_p.G267G|CNTN1_ENST00000347616.1_Silent_p.G267G	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	267	Ig-like C2-type 3.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TTGCACTTGGAAAGTAAGTAT	0.284																																						uc001rmm.1		NaN																	0				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9						c.(799-801)GGA>GGT		contactin 1 isoform 1 precursor							115.0	114.0	115.0					12																	41327360		2203	4300	6503	SO:0001819	synonymous_variant	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41327360A>T	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.801A>T	12.37:g.41327360A>T						CNTN1_uc009zjy.1_Silent_p.G267G|CNTN1_uc001rmn.1_Silent_p.G256G|CNTN1_uc001rmo.2_Silent_p.G267G	p.G267G	NM_001843	NP_001834	Q12860	CNTN1_HUMAN			8	914	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	267			Ig-like C2-type 3.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Silent	SNP	ENST00000551295.2	37	c.801A>T	CCDS8737.1																																																																																				0.284	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2		NM_001843		24	67	0	0	0	0.00333	0	24	67		
ARID2	196528	broad.mit.edu	37	12	46287315	46287315	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:46287315C>T	ENST00000334344.6	+	19	5432	c.5260C>T	c.(5260-5262)Cga>Tga	p.R1754*	ARID2_ENST00000457135.1_Nonsense_Mutation_p.R362*|ARID2_ENST00000422737.1_Nonsense_Mutation_p.R1605*|ARID2_ENST00000444670.1_Nonsense_Mutation_p.R1364*|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1754					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CCTTGTCTTTCGAGATTTTAC	0.403			"""N, S, F"""		hepatocellular carcinoma																																	uc001ros.1		NaN		Rec	yes		12	12q12	196528		AT rich interactive domain 2			E					0				ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10						c.(5260-5262)CGA>TGA		AT rich interactive domain 2 (ARID, RFX-like)							114.0	106.0	109.0					12																	46287315		2203	4300	6503	SO:0001587	stop_gained	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46287315C>T		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.5260C>T	12.37:g.46287315C>T	ENSP00000335044:p.Arg1754*					ARID2_uc001ror.2_Nonsense_Mutation_p.R1754*|ARID2_uc009zkg.1_Nonsense_Mutation_p.R1210*|ARID2_uc009zkh.1_Nonsense_Mutation_p.R1381*|ARID2_uc001rou.1_Nonsense_Mutation_p.R1088*	p.R1754*	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	19	5260	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1754					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Nonsense_Mutation	SNP	ENST00000334344.6	37	c.5260C>T	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	C	45	11.894660	0.99615	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670;ENST00000457135	.	.	.	5.23	4.25	0.50352	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.5841	12.6031	0.56509	0.2918:0.7082:0.0:0.0	.	.	.	.	X	1754;871;871;1605;1364;362	.	ENSP00000335044:R1754X	R	+	1	2	ARID2	44573582	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.654000	0.61469	2.451000	0.82905	0.467000	0.42956	CGA		0.403	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2		XM_350875		26	36	0	0	0	0.005443	0	26	36		
H1FNT	341567	broad.mit.edu	37	12	48723371	48723371	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:48723371G>A	ENST00000335017.1	+	1	609	c.297G>A	c.(295-297)gcG>gcA	p.A99A		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	99					chromosome condensation (GO:0030261)|multicellular organismal development (GO:0007275)|sperm chromatin condensation (GO:0035092)|spermatid nucleus elongation (GO:0007290)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						GCCACGAAGCGCCCAGGGGGC	0.667																																						uc001rrm.2		NaN																	0				pancreas(1)	1						c.(295-297)GCG>GCA		H1 histone family, member N, testis-specific							14.0	18.0	17.0					12																	48723371		2196	4290	6486	SO:0001819	synonymous_variant	341567				chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding	g.chr12:48723371G>A	AY302593	CCDS8762.1	12q13.11	2011-01-27				ENSG00000187166		"""Histones / Replication-independent"""	24893	protein-coding gene	gene with protein product						15710904	Standard	NM_181788		Approved	HANP1, H1T2	uc001rrm.3	Q75WM6		ENST00000335017.1:c.297G>A	12.37:g.48723371G>A							p.A99A	NM_181788	NP_861453	Q75WM6	H1FNT_HUMAN			1	609	+			99					Q147U8|Q5GKZ5|Q7Z694	Silent	SNP	ENST00000335017.1	37	c.297G>A	CCDS8762.1																																																																																				0.667	H1FNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406516.1		NM_181788		17	19	0	0	0	0.00278	0	17	19		
TROAP	10024	broad.mit.edu	37	12	49719543	49719543	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:49719543C>G	ENST00000257909.3	+	5	585	c.509C>G	c.(508-510)tCt>tGt	p.S170C	TROAP_ENST00000547923.1_5'Flank|RP11-161H23.9_ENST00000553259.1_RNA|TROAP_ENST00000551245.1_Missense_Mutation_p.S170C	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	170					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						GTTCGGGCCTCTGCATATTTG	0.622																																						uc001rtx.3		NaN																	0				ovary(1)	1						c.(508-510)TCT>TGT		tastin isoform 1							39.0	42.0	41.0					12																	49719543		2203	4300	6503	SO:0001583	missense	10024				cell adhesion	cytoplasm		g.chr12:49719543C>G	U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"""tastin"""	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.509C>G	12.37:g.49719543C>G	ENSP00000257909:p.Ser170Cys					TROAP_uc009zlh.2_Missense_Mutation_p.S170C|TROAP_uc001rty.2_5'Flank	p.S170C	NM_005480	NP_005471	Q12815	TROAP_HUMAN			5	676	+			170					F8VSF9|Q6PJU7|Q8N5B2	Missense_Mutation	SNP	ENST00000257909.3	37	c.509C>G	CCDS8784.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.767287	0.69878	.	.	ENSG00000135451	ENST00000551245;ENST00000550346;ENST00000257909;ENST00000547807	T;T;T;T	0.25414	1.8;1.8;1.8;1.8	4.78	3.86	0.44501	.	0.259108	0.28161	N	0.016363	T	0.39809	0.1092	L	0.47190	1.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.994;0.995	T	0.16188	-1.0411	10	0.87932	D	0	-17.5541	9.1409	0.36903	0.0:0.898:0.0:0.102	.	170;170	F8W130;Q12815	.;TROAP_HUMAN	C	170;53;170;170	ENSP00000447509:S170C;ENSP00000449588:S53C;ENSP00000257909:S170C;ENSP00000446646:S170C	ENSP00000257909:S170C	S	+	2	0	TROAP	48005810	0.515000	0.26210	1.000000	0.80357	0.980000	0.70556	2.037000	0.41174	2.468000	0.83385	0.655000	0.94253	TCT		0.622	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404300.1		NM_005480		12	36	0	0	0	0.013537	0	12	36		
LIMA1	51474	broad.mit.edu	37	12	50571638	50571638	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:50571638G>A	ENST00000341247.4	-	11	1638	c.1489C>T	c.(1489-1491)Cct>Tct	p.P497S	LIMA1_ENST00000552783.1_Missense_Mutation_p.P338S|LIMA1_ENST00000394943.3_Missense_Mutation_p.P498S|LIMA1_ENST00000552909.1_Missense_Mutation_p.P336S|LIMA1_ENST00000552491.1_Missense_Mutation_p.P194S|LIMA1_ENST00000552823.1_Missense_Mutation_p.P337S|LIMA1_ENST00000547825.1_Missense_Mutation_p.P195S	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	497					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						TTAGCAATAGGGGCATCTTCT	0.522																																						uc001rwj.3		NaN																	0				ovary(1)	1						c.(1489-1491)CCT>TCT		LIM domain and actin binding 1 isoform b							133.0	129.0	130.0					12																	50571638		2203	4300	6503	SO:0001583	missense	51474				actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding	g.chr12:50571638G>A	AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"""epithelial protein lost in neoplasm beta"""	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.1489C>T	12.37:g.50571638G>A	ENSP00000340184:p.Pro497Ser					LIMA1_uc001rwg.3_Missense_Mutation_p.P195S|LIMA1_uc001rwh.3_Missense_Mutation_p.P336S|LIMA1_uc001rwi.3_Missense_Mutation_p.P338S|LIMA1_uc001rwk.3_Missense_Mutation_p.P498S|LIMA1_uc010smr.1_RNA|LIMA1_uc010sms.1_RNA	p.P497S	NM_016357	NP_057441	Q9UHB6	LIMA1_HUMAN			11	1663	-			497					B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Missense_Mutation	SNP	ENST00000341247.4	37	c.1489C>T	CCDS8802.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.804502	0.70682	.	.	ENSG00000050405	ENST00000552491;ENST00000547825;ENST00000552823;ENST00000394943;ENST00000341247;ENST00000552783;ENST00000552909;ENST00000420992	D;D;D;D;D;D;D	0.88201	-1.51;-1.5;-1.93;-2.35;-1.61;-1.94;-1.94	5.32	4.43	0.53597	.	0.315390	0.34025	N	0.004327	D	0.93625	0.7964	M	0.73962	2.25	0.58432	D	0.999997	D;P;D	0.89917	0.992;0.714;1.0	D;B;D	0.87578	0.973;0.243;0.998	D	0.93690	0.7006	10	0.52906	T	0.07	.	14.0259	0.64586	0.0728:0.0:0.9272:0.0	.	507;497;336	Q59FE8;Q9UHB6;F8VQE1	.;LIMA1_HUMAN;.	S	194;195;337;498;497;338;336;416	ENSP00000448463:P194S;ENSP00000448706:P195S;ENSP00000450266:P337S;ENSP00000378400:P498S;ENSP00000340184:P497S;ENSP00000448779:P338S;ENSP00000450087:P336S	ENSP00000340184:P497S	P	-	1	0	LIMA1	48857905	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	9.420000	0.97426	1.372000	0.46190	0.655000	0.94253	CCT		0.522	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2		NM_016357		45	85	0	0	0	0.009718	0	45	85		
SLC11A2	4891	broad.mit.edu	37	12	51384657	51384657	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:51384657A>G	ENST00000262051.7	-	15	1583	c.1496T>C	c.(1495-1497)gTc>gCc	p.V499A	SLC11A2_ENST00000546743.1_Missense_Mutation_p.V420A|SLC11A2_ENST00000262052.5_Missense_Mutation_p.V499A|SLC11A2_ENST00000541174.2_Missense_Mutation_p.V499A|SLC11A2_ENST00000545993.2_Missense_Mutation_p.V495A|SLC11A2_ENST00000547198.1_Missense_Mutation_p.V499A|SLC11A2_ENST00000394904.3_Missense_Mutation_p.V528A|SLC11A2_ENST00000547688.1_Missense_Mutation_p.V528A	NM_001174126.1|NM_001174127.1	NP_001167597.1|NP_001167598.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2	499					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cadmium ion transmembrane transport (GO:0070574)|cation transmembrane transport (GO:0098655)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to iron ion (GO:0071281)|cellular response to oxidative stress (GO:0034599)|cellular response to tumor necrosis factor (GO:0071356)|cobalt ion transport (GO:0006824)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detection of oxygen (GO:0003032)|erythrocyte development (GO:0048821)|ferrous iron import (GO:0070627)|ferrous iron transport (GO:0015684)|heme biosynthetic process (GO:0006783)|lead ion transport (GO:0015692)|learning or memory (GO:0007611)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organismal iron ion homeostasis (GO:0060586)|nickel cation transmembrane transport (GO:0035444)|nickel cation transport (GO:0015675)|response to cadmium ion (GO:0046686)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to lead ion (GO:0010288)|response to manganese ion (GO:0010042)|transmembrane transport (GO:0055085)|vanadium ion transport (GO:0015676)|zinc ion transmembrane transport (GO:0071577)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|brush border (GO:0005903)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|paraferritin complex (GO:0070826)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)	cadmium ion binding (GO:0046870)|cadmium ion transmembrane transporter activity (GO:0015086)|cobalt ion binding (GO:0050897)|cobalt ion transmembrane transporter activity (GO:0015087)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|ferrous iron transmembrane transporter activity (GO:0015093)|hydrogen ion transmembrane transporter activity (GO:0015078)|inorganic cation transmembrane transporter activity (GO:0022890)|iron ion binding (GO:0005506)|lead ion transmembrane transporter activity (GO:0015094)|manganese ion binding (GO:0030145)|manganese ion transmembrane transporter activity (GO:0005384)|nickel cation binding (GO:0016151)|nickel cation transmembrane transporter activity (GO:0015099)|solute:proton symporter activity (GO:0015295)|vanadium ion transmembrane transporter activity (GO:0015100)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						TAGGTCCCGGACATAAACCAC	0.478																																						uc001rxe.3		NaN																	0				large_intestine(1)	1						c.(1495-1497)GTC>GCC		solute carrier family 11 (proton-coupled							132.0	107.0	115.0					12																	51384657		2203	4300	6503	SO:0001583	missense	4891				activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity	g.chr12:51384657A>G	AB015355	CCDS8805.1, CCDS53791.1, CCDS53792.1, CCDS53793.1	12q13	2013-07-18	2013-07-18		ENSG00000110911	ENSG00000110911		"""Solute carriers"""	10908	protein-coding gene	gene with protein product		600523		NRAMP2		7613023	Standard	NM_000617		Approved	DCT1, DMT1	uc001rxk.2	P49281	OTTHUMG00000169493	ENST00000262051.7:c.1496T>C	12.37:g.51384657A>G	ENSP00000262051:p.Val499Ala					SLC11A2_uc001rxd.3_Missense_Mutation_p.V348A|SLC11A2_uc001rxc.3_Missense_Mutation_p.V499A|SLC11A2_uc001rxf.2_RNA|SLC11A2_uc001rxg.1_Missense_Mutation_p.V112A|SLC11A2_uc010smx.1_Missense_Mutation_p.V495A|SLC11A2_uc001rxh.1_Missense_Mutation_p.V499A|SLC11A2_uc001rxj.1_Missense_Mutation_p.V499A|SLC11A2_uc001rxi.2_Missense_Mutation_p.V499A|SLC11A2_uc001rxk.1_Missense_Mutation_p.V528A|SLC11A2_uc010smy.1_Missense_Mutation_p.V462A	p.V499A	NM_000617	NP_000608	P49281	NRAM2_HUMAN			15	1593	-			499			Helical; (Potential).		B3KT08|B4DK84|F5H741|O43288|O60932|O94801|Q498Z5|Q8IUD7|Q96J35	Missense_Mutation	SNP	ENST00000262051.7	37	c.1496T>C	CCDS53792.1	.	.	.	.	.	.	.	.	.	.	A	18.77	3.694555	0.68386	.	.	ENSG00000110911	ENST00000262051;ENST00000547198;ENST00000262052;ENST00000394904;ENST00000547688;ENST00000541174;ENST00000545993;ENST00000546743	T;T;T;T;T;T;T;T	0.32988	1.81;1.81;1.81;1.79;1.79;1.81;1.82;1.43	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.44603	0.1301	M	0.83223	2.63	0.80722	D	1	B;P;B;P;B;P	0.36959	0.112;0.575;0.389;0.575;0.269;0.458	B;B;B;B;B;B	0.40901	0.086;0.343;0.274;0.343;0.086;0.212	T	0.47249	-0.9132	10	0.52906	T	0.07	-23.6344	15.3177	0.74095	1.0:0.0:0.0:0.0	.	462;495;528;499;348;499	B7Z9M2;F5H741;P49281-3;P49281-2;B3KY44;P49281	.;.;.;.;.;NRAM2_HUMAN	A	499;499;499;528;528;499;495;420	ENSP00000262051:V499A;ENSP00000446769:V499A;ENSP00000262052:V499A;ENSP00000378364:V528A;ENSP00000449200:V528A;ENSP00000444542:V499A;ENSP00000442810:V495A;ENSP00000446914:V420A	ENSP00000262051:V499A	V	-	2	0	SLC11A2	49670924	1.000000	0.71417	1.000000	0.80357	0.473000	0.32948	8.161000	0.89655	2.262000	0.75019	0.528000	0.53228	GTC		0.478	SLC11A2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404383.1				20	38	0	0	0	0.008871	0	20	38		
KRT7	3855	broad.mit.edu	37	12	52627001	52627001	+	5'UTR	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:52627001A>G	ENST00000331817.5	+	0	104					NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7						viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)	Primaquine(DB01087)	TCCCGCGGATAAAAGGCGCGG	0.731																																						uc001saa.1		NaN																	0					0						c.(-81--77)ATAAA>ATGAA		keratin 7																																				SO:0001623	5_prime_UTR_variant	3855				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity	g.chr12:52627001A>G		CCDS8822.1	12q13.13	2013-01-16			ENSG00000135480	ENSG00000135480		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6445	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 7"", ""cytokeratin 7"", ""sarcolectin"", ""keratin, 55K type II cytoskeletal"""	148059				1713141, 16831889	Standard	XR_245927		Approved	K7, CK7, K2C7, SCL	uc001saa.1	P08729	OTTHUMG00000169580	ENST00000331817.5:c.-80A>G	12.37:g.52627001A>G						KRT7_uc009zmf.1_Translation_Start_Site		NM_005556	NP_005547	P08729	K2C7_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.105)	1	48	+								Q92676|Q9BUD8|Q9Y3R7	Translation_Start_Site	SNP	ENST00000331817.5	37	c.-79A>G	CCDS8822.1																																																																																				0.731	KRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404897.1		NM_005556		5	2	0	0	0	0.000602	0	5	2		
KRT84	3890	broad.mit.edu	37	12	52777374	52777374	+	Splice_Site	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:52777374T>C	ENST00000257951.3	-	2	821	c.755A>G	c.(754-756)aAg>aGg	p.K252R	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	252	Coil 1B.|Rod.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TGTCACTCACTTCTTCTTGAA	0.582																																						uc001sah.1		NaN																	0				skin(1)	1						c.(754-756)AAG>AGG		keratin, hair, basic, 4							52.0	49.0	50.0					12																	52777374		2203	4300	6503	SO:0001630	splice_region_variant	3890					keratin filament	structural constituent of epidermis	g.chr12:52777374T>C	Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6461	protein-coding gene	gene with protein product	"""hard keratin type II 4"""	602766	"""keratin, hair, basic, 4"""	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.755+1A>G	12.37:g.52777374T>C							p.K252R	NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	2	803	-	all_hematologic(5;0.12)		252			Rod.|Coil 1B.		B2RA43|Q6ISB0|Q701L6	Missense_Mutation	SNP	ENST00000257951.3	37	c.755A>G	CCDS8825.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.224144	0.79576	.	.	ENSG00000161849	ENST00000257951	D	0.88975	-2.45	5.22	5.22	0.72569	Filament (1);	0.000000	0.51477	D	0.000094	D	0.90428	0.7003	L	0.35487	1.065	0.51233	D	0.99991	D	0.71674	0.998	D	0.67231	0.95	D	0.89533	0.3787	9	.	.	.	.	15.5745	0.76365	0.0:0.0:0.0:1.0	.	252	Q9NSB2	KRT84_HUMAN	R	252	ENSP00000257951:K252R	.	K	-	2	0	KRT84	51063641	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.043000	0.57354	2.330000	0.79161	0.477000	0.44152	AAG		0.582	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405187.1		NM_033045	Missense_Mutation	6	30	0	0	0	0.001168	0	6	30		
KRT3	3850	broad.mit.edu	37	12	53186528	53186528	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:53186528A>G	ENST00000417996.2	-	4	1064	c.990T>C	c.(988-990)gaT>gaC	p.D330D	KRT3_ENST00000309505.3_Silent_p.D330D	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	330	Coil 1B.|Rod.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						AGTCGATCTCATCTATCAAGG	0.473																																						uc001say.2		NaN																	0					0						c.(988-990)GAT>GAC		keratin 3							190.0	194.0	193.0					12																	53186528		2120	4265	6385	SO:0001819	synonymous_variant	3850				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53186528A>G		CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6440	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 3"", ""cytokeratin 3"""	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.990T>C	12.37:g.53186528A>G							p.D330D	NM_057088	NP_476429	P12035	K2C3_HUMAN			4	1056	-			330			Rod.|Coil 1B.		A6NIS2|Q701L8	Silent	SNP	ENST00000417996.2	37	c.990T>C	CCDS44895.1																																																																																				0.473	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1		NM_057088		70	154	0	0	0	0.01441	0	70	154		
CALCOCO1	57658	broad.mit.edu	37	12	54115352	54115352	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:54115352C>T	ENST00000550804.1	-	6	717	c.657G>A	c.(655-657)ctG>ctA	p.L219L	CALCOCO1_ENST00000262059.4_Silent_p.L219L|CALCOCO1_ENST00000548263.1_Silent_p.L219L|CALCOCO1_ENST00000430117.2_Silent_p.L186L|CALCOCO1_ENST00000547885.1_5'Flank			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	219					intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						GTTGCCGGCTCAGGATGTCCC	0.537																																						uc001sef.2		NaN																	0				ovary(1)	1						c.(655-657)CTG>CTA		coiled-coil transcriptional coactivator isoform							357.0	326.0	337.0					12																	54115352		2203	4300	6503	SO:0001819	synonymous_variant	57658				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding	g.chr12:54115352C>T	AL136895	CCDS8864.1, CCDS44908.1	12q13.13	2014-01-02			ENSG00000012822	ENSG00000012822			29306	protein-coding gene	gene with protein product	"""coiled-coil leucine zipper coactivator 1"", ""inorganic pyrophosphatase activator"""					10819331, 11230166	Standard	NM_020898		Approved	KIAA1536, calphoglin, Cocoa	uc001sef.3	Q9P1Z2	OTTHUMG00000170095	ENST00000550804.1:c.657G>A	12.37:g.54115352C>T						CALCOCO1_uc010som.1_Silent_p.L186L|CALCOCO1_uc010son.1_Silent_p.L96L|CALCOCO1_uc001seh.2_Silent_p.L219L|CALCOCO1_uc009znd.2_Silent_p.L219L|CALCOCO1_uc001seg.2_Silent_p.L96L|CALCOCO1_uc010soo.1_Silent_p.L212L	p.L219L	NM_020898	NP_065949	Q9P1Z2	CACO1_HUMAN			6	801	-			219					B3KVA8|Q6FI59|Q71RC3|Q86WF8|Q96JU3|Q9H090	Silent	SNP	ENST00000550804.1	37	c.657G>A	CCDS8864.1																																																																																				0.537	CALCOCO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407233.2		NM_020898		138	260	0	0	0	0.01441	0	138	260		
HOXC9	3225	broad.mit.edu	37	12	54394372	54394372	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:54394372G>A	ENST00000303450.4	+	1	470	c.400G>A	c.(400-402)Gag>Aag	p.E134K	HOXC9_ENST00000504557.1_Intron|HOXC9_ENST00000508190.1_Missense_Mutation_p.E134K|RP11-834C11.12_ENST00000513209.1_Intron|HOXC-AS1_ENST00000512427.1_RNA|HOXC-AS1_ENST00000505700.1_RNA	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN	homeobox C9	134					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						CGGCCCAGGGGAGGGCCGCAG	0.781																																						uc001sep.2		NaN																	0				large_intestine(1)|pancreas(1)|skin(1)	3						c.(400-402)GAG>AAG		homeobox C9							2.0	3.0	3.0					12																	54394372		1070	2539	3609	SO:0001583	missense	3225				multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54394372G>A		CCDS8869.1	12q13.13	2011-06-20	2005-12-22			ENSG00000180806		"""Homeoboxes / ANTP class : HOXL subclass"""	5130	protein-coding gene	gene with protein product		142971	"""homeo box C9"""	HOX3, HOX3B		1973146	Standard	NM_006897		Approved		uc001seq.3	P31274		ENST00000303450.4:c.400G>A	12.37:g.54394372G>A	ENSP00000302836:p.Glu134Lys					HOXC9_uc001seq.2_Missense_Mutation_p.E134K	p.E134K	NM_006897	NP_008828	P31274	HXC9_HUMAN			2	498	+			134					B2RCN7|Q9H1I0	Missense_Mutation	SNP	ENST00000303450.4	37	c.400G>A	CCDS8869.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.528868	0.44969	.	.	ENSG00000180806	ENST00000508190;ENST00000303450	D;D	0.93426	-3.22;-3.22	4.04	4.04	0.47022	Hox9, N-terminal activation domain (1);	0.291255	0.33075	N	0.005303	D	0.89051	0.6605	N	0.25201	0.72	0.19775	N	0.999951	B	0.23891	0.093	B	0.31101	0.124	T	0.82709	-0.0323	10	0.54805	T	0.06	.	15.4974	0.75666	0.0:0.0:1.0:0.0	.	134	P31274	HXC9_HUMAN	K	134	ENSP00000423861:E134K;ENSP00000302836:E134K	ENSP00000302836:E134K	E	+	1	0	HOXC9	52680639	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.623000	0.61247	2.268000	0.75426	0.561000	0.74099	GAG		0.781	HOXC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358958.1				4	2	0	0	0	0.000602	0	4	2		
HOXC5	3222	broad.mit.edu	37	12	54428131	54428131	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:54428131A>T	ENST00000312492.2	+	2	794	c.524A>T	c.(523-525)cAc>cTc	p.H175L	RP11-834C11.14_ENST00000512206.1_RNA|HOXC4_ENST00000303406.4_Intron|RP11-834C11.12_ENST00000513209.1_Missense_Mutation_p.H79L|MIR615_ENST00000384839.1_RNA	NM_018953.2	NP_061826.1	Q00444	HXC5_HUMAN	homeobox C5	175					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system development (GO:0048706)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(2)|urinary_tract(1)	12						AAAGAATTCCACTTTAACCGC	0.537																																						uc001sew.2		NaN																	0					0						c.(523-525)CAC>CTC		homeobox C5							83.0	91.0	88.0					12																	54428131		2203	4300	6503	SO:0001583	missense	3222				regulation of transcription from RNA polymerase II promoter	cell junction|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54428131A>T		CCDS8872.1	12q13.13	2011-06-20	2005-12-22		ENSG00000172789	ENSG00000172789		"""Homeoboxes / ANTP class : HOXL subclass"""	5127	protein-coding gene	gene with protein product		142973	"""homeo box C5"""	HOX3D, HOX3		1973146, 1358459	Standard	NM_018953		Approved		uc001sew.3	Q00444	OTTHUMG00000160028	ENST00000312492.2:c.524A>T	12.37:g.54428131A>T	ENSP00000309336:p.His175Leu					HOXC5_uc001set.2_RNA|HOXC4_uc001seu.2_Intron	p.H175L	NM_018953	NP_061826	Q00444	HXC5_HUMAN			2	599	+			175			Homeobox.			Missense_Mutation	SNP	ENST00000312492.2	37	c.524A>T	CCDS8872.1	.	.	.	.	.	.	.	.	.	.	A	19.30	3.801394	0.70567	.	.	ENSG00000172789	ENST00000312492	D	0.95949	-3.86	4.26	4.26	0.50523	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.44483	D	0.000442	D	0.95217	0.8449	L	0.28192	0.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94797	0.7967	10	0.44086	T	0.13	.	12.8229	0.57704	1.0:0.0:0.0:0.0	.	175	Q00444	HXC5_HUMAN	L	175	ENSP00000309336:H175L	ENSP00000309336:H175L	H	+	2	0	HOXC5	52714398	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.083000	0.94067	1.920000	0.55613	0.454000	0.30748	CAC		0.537	HOXC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358947.1				47	76	0	0	0	0.01441	0	47	76		
OR6C1	390321	broad.mit.edu	37	12	55714720	55714720	+	Silent	SNP	C	C	T	rs149008799	byFrequency	TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:55714720C>T	ENST00000379668.2	+	1	375	c.337C>T	c.(337-339)Ctg>Ttg	p.L113L		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	113						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						GTTTTACCTTCTGGCTGCCAT	0.403													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		18834	0.0		0.0	False		,,,				2504	0.0					uc010spi.1		NaN																	0				large_intestine(1)|ovary(1)	2						c.(337-339)CTG>TTG		olfactory receptor, family 6, subfamily C,		C		3,4399	6.2+/-15.9	0,3,2198	50.0	51.0	51.0		337	0.4	0.8	12	dbSNP_134	51	0,8600		0,0,4300	no	coding-synonymous	OR6C1	NM_001005182.1		0,3,6498	TT,TC,CC		0.0,0.0682,0.0231		113/313	55714720	3,12999	2201	4300	6501	SO:0001819	synonymous_variant	390321				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55714720C>T	AF399506	CCDS31818.1	12q13.13	2012-08-09			ENSG00000205330	ENSG00000205330		"""GPCR / Class A : Olfactory receptors"""	8355	protein-coding gene	gene with protein product							Standard	NM_001005182		Approved	OST267	uc010spi.2	Q96RD1	OTTHUMG00000168102	ENST00000379668.2:c.337C>T	12.37:g.55714720C>T							p.L113L	NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN			1	337	+			113			Helical; Name=3; (Potential).		B2RNM0	Silent	SNP	ENST00000379668.2	37	c.337C>T	CCDS31818.1																																																																																				0.403	OR6C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398152.1		NM_001005182		11	28	0	0	0	0.008291	0	11	28		
OR6C65	403282	broad.mit.edu	37	12	55794973	55794973	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:55794973A>G	ENST00000379665.2	+	1	760	c.661A>G	c.(661-663)Aaa>Gaa	p.K221E		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	221						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						ACTCATCCTTAAAACAATTCT	0.418																																						uc010spl.1		NaN																	0					0						c.(661-663)AAA>GAA		olfactory receptor, family 6, subfamily C,							181.0	175.0	177.0					12																	55794973		2203	4300	6503	SO:0001583	missense	403282				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55794973A>G		CCDS31821.1	12q13.2	2013-09-23			ENSG00000205328	ENSG00000205328		"""GPCR / Class A : Olfactory receptors"""	31295	protein-coding gene	gene with protein product							Standard	NM_001005518		Approved		uc010spl.2	A6NJZ3	OTTHUMG00000169955	ENST00000379665.2:c.661A>G	12.37:g.55794973A>G	ENSP00000368986:p.Lys221Glu						p.K221E	NM_001005518	NP_001005518	A6NJZ3	O6C65_HUMAN			1	661	+			221			Cytoplasmic (Potential).		B2RNH9	Missense_Mutation	SNP	ENST00000379665.2	37	c.661A>G	CCDS31821.1	.	.	.	.	.	.	.	.	.	.	A	11.36	1.614660	0.28712	.	.	ENSG00000205328	ENST00000379665	T	0.38722	1.12	3.71	-2.52	0.06346	GPCR, rhodopsin-like superfamily (1);	0.469117	0.15589	U	0.254513	T	0.33789	0.0875	M	0.71581	2.175	0.09310	N	1	B	0.21905	0.062	B	0.26202	0.067	T	0.36744	-0.9735	10	0.51188	T	0.08	.	1.7779	0.03025	0.3889:0.1156:0.089:0.4066	.	221	A6NJZ3	O6C65_HUMAN	E	221	ENSP00000368986:K221E	ENSP00000368986:K221E	K	+	1	0	OR6C65	54081240	0.000000	0.05858	0.001000	0.08648	0.942000	0.58702	-3.317000	0.00514	-0.168000	0.10853	0.348000	0.21847	AAA		0.418	OR6C65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406674.1				36	93	0	0	0	0.004878	0	36	93		
OR6C2	341416	broad.mit.edu	37	12	55846108	55846108	+	Silent	SNP	A	A	G	rs142313431		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:55846108A>G	ENST00000322678.1	+	1	111	c.111A>G	c.(109-111)gtA>gtG	p.V37V	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	37					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						TGTTGAGTGTAACAGGGAACC	0.403																																						uc001sgz.1		NaN																	0				skin(2)	2						c.(109-111)GTA>GTG		olfactory receptor, family 6, subfamily C,		A		0,4406		0,0,2203	133.0	124.0	127.0		111	0.2	0.0	12	dbSNP_134	127	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OR6C2	NM_054105.1		0,1,6502	GG,GA,AA		0.0116,0.0,0.0077		37/313	55846108	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	341416				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55846108A>G	AF179766	CCDS31824.1	12q13.2	2012-08-09				ENSG00000179695		"""GPCR / Class A : Olfactory receptors"""	15436	protein-coding gene	gene with protein product							Standard	NM_054105		Approved	OR6C67	uc001sgz.1	Q9NZP2	OTTHUMG00000169957	ENST00000322678.1:c.111A>G	12.37:g.55846108A>G							p.V37V	NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN			1	111	+			37			Helical; Name=1; (Potential).			Silent	SNP	ENST00000322678.1	37	c.111A>G	CCDS31824.1																																																																																				0.403	OR6C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406676.1		NM_054105		20	42	0	0	0	0.010504	0	20	42		
SUOX	6821	broad.mit.edu	37	12	56396035	56396035	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:56396035C>T	ENST00000394109.3	+	1	754	c.30C>T	c.(28-30)ctC>ctT	p.L10L	SUOX_ENST00000548274.1_Silent_p.L10L|SUOX_ENST00000394115.2_Silent_p.L10L|SUOX_ENST00000550478.1_3'UTR|SUOX_ENST00000266971.3_Silent_p.L10L|SUOX_ENST00000551841.2_Silent_p.L10L|SUOX_ENST00000356124.4_Silent_p.L10L			P51687	SUOX_HUMAN	sulfite oxidase	10					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|sulfite oxidase activity (GO:0008482)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			CTGTGGTCCTCAGGCTCCAAC	0.547																																						uc001six.2		NaN																	0					0						c.(28-30)CTC>CTT		sulfite oxidase precursor							84.0	77.0	79.0					12																	56396035		2203	4300	6503	SO:0001819	synonymous_variant	6821					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity	g.chr12:56396035C>T	BC065193	CCDS8901.2	12q13.13	2011-02-10			ENSG00000139531	ENSG00000139531	1.8.3.1		11460	protein-coding gene	gene with protein product		606887				7599189	Standard	XM_005269112		Approved		uc001siz.3	P51687	OTTHUMG00000128503	ENST00000394109.3:c.30C>T	12.37:g.56396035C>T						SUOX_uc009zoh.2_Silent_p.L10L|SUOX_uc001siy.2_Silent_p.L10L|SUOX_uc001siz.2_Silent_p.L10L|SUOX_uc001sja.2_Silent_p.L10L	p.L10L	NM_000456	NP_000447	P51687	SUOX_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)		4	356	+			10						Silent	SNP	ENST00000394109.3	37	c.30C>T	CCDS8901.2																																																																																				0.547	SUOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250309.1		NM_000456		21	45	0	0	0	0.014323	0	21	45		
PPM1H	57460	broad.mit.edu	37	12	63195923	63195923	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:63195923G>A	ENST00000228705.6	-	3	729	c.429C>T	c.(427-429)tcC>tcT	p.S143S		NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	143	PP2C-like.						phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		AATAGTGGCAGGAAACACCCT	0.617																																						uc001srk.3		NaN																	0				lung(3)|ovary(1)	4						c.(427-429)TCC>TCT		protein phosphatase 1H (PP2C domain containing)							14.0	16.0	15.0					12																	63195923		2030	4152	6182	SO:0001819	synonymous_variant	57460						phosphoprotein phosphatase activity	g.chr12:63195923G>A	AB032983	CCDS44934.1	12q14.1	2012-04-17	2010-03-05	2004-03-26	ENSG00000111110	ENSG00000111110	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	18583	protein-coding gene	gene with protein product	"""neurite extension-related protein phosphatase related to PP2C"""		"""ras homolog gene family, member C like 1"", ""protein phosphatase 1H (PP2C domain containing)"""	ARHCL1			Standard	NM_020700		Approved	KIAA1157, FLJ13253, NERPP-2C	uc001srk.3	Q9ULR3	OTTHUMG00000169990	ENST00000228705.6:c.429C>T	12.37:g.63195923G>A							p.S143S	NM_020700	NP_065751	Q9ULR3	PPM1H_HUMAN	GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)	3	578	-			143			PP2C-like.		B1Q2A9|B2RXG4|Q6PI86	Silent	SNP	ENST00000228705.6	37	c.429C>T	CCDS44934.1																																																																																				0.617	PPM1H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406760.2		NM_020700		3	24	0	0	0	0.009096	0	3	24		
LGR5	8549	broad.mit.edu	37	12	71833861	71833861	+	Start_Codon_SNP	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:71833861A>G	ENST00000266674.5	+	1	312	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	TSPAN8_ENST00000393330.2_Intron|LGR5_ENST00000536515.1_Start_Codon_SNP_p.M1V|LGR5_ENST00000540815.2_Start_Codon_SNP_p.M1V			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	1					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TTCGGGCACCATGGACACCTC	0.721																																						uc001swl.2		NaN																	0				lung(4)|skin(3)|ovary(1)|pancreas(1)	9						c.(1-3)ATG>GTG		leucine-rich repeat-containing G protein-coupled							35.0	35.0	35.0					12																	71833861		2203	4299	6502	SO:0001582	initiator_codon_variant	8549					integral to plasma membrane	protein-hormone receptor activity	g.chr12:71833861A>G	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"""GPCR / Class A : Orphans"""	4504	protein-coding gene	gene with protein product		606667	"""G protein-coupled receptor 49"", ""leucine-rich repeat-containing G protein-coupled receptor 5"""	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.1A>G	12.37:g.71833861A>G	ENSP00000266674:p.Met1Val					TSPAN8_uc001swk.1_Intron|LGR5_uc001swm.2_Missense_Mutation_p.M1V|LGR5_uc001swn.1_RNA	p.M1V	NM_003667	NP_003658	O75473	LGR5_HUMAN			1	49	+			1					D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	ENST00000266674.5	37	c.1A>G	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	A	15.30	2.792478	0.50102	.	.	ENSG00000139292	ENST00000266674;ENST00000451585;ENST00000536515;ENST00000540815	T;T;T	0.56103	0.54;0.48;0.62	4.24	4.24	0.50183	.	0.119220	0.38778	N	0.001562	T	0.43456	0.1248	.	.	.	0.53005	D	0.999967	B;B	0.14012	0.009;0.005	B;B	0.12156	0.007;0.003	T	0.45205	-0.9277	9	0.87932	D	0	.	9.2916	0.37791	0.8389:0.0:0.0:0.161	.	1;1	O75473-2;O75473	.;LGR5_HUMAN	V	1	ENSP00000266674:M1V;ENSP00000443033:M1V;ENSP00000441035:M1V	ENSP00000266674:M1V	M	+	1	0	LGR5	70120128	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.052000	0.49893	1.770000	0.52166	0.459000	0.35465	ATG		0.721	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1		NM_003667	Missense_Mutation	28	38	0	0	0	0.007291	0	28	38		
TMEM19	55266	broad.mit.edu	37	12	72080580	72080580	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:72080580C>A	ENST00000266673.5	+	1	714	c.120C>A	c.(118-120)agC>agA	p.S40R	TMEM19_ENST00000549735.1_Missense_Mutation_p.S40R|RP11-293I14.2_ENST00000548802.1_Intron	NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	40						integral component of membrane (GO:0016021)				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		TGACTGCAAGCACCTATTATG	0.318																																						uc001sws.2		NaN																	0					0						c.(118-120)AGC>AGA		transmembrane protein 19							105.0	103.0	103.0					12																	72080580		2202	4300	6502	SO:0001583	missense	55266					integral to membrane		g.chr12:72080580C>A	BC008596	CCDS9002.1	12q15	2004-03-04				ENSG00000139291			25605	protein-coding gene	gene with protein product						12477932	Standard	NM_018279		Approved	FLJ10936	uc001sws.3	Q96HH6	OTTHUMG00000169558	ENST00000266673.5:c.120C>A	12.37:g.72080580C>A	ENSP00000266673:p.Ser40Arg					TMEM19_uc001swr.1_Missense_Mutation_p.S26R|TMEM19_uc009zru.1_RNA	p.S40R	NM_018279	NP_060749	Q96HH6	TMM19_HUMAN		GBM - Glioblastoma multiforme(134;0.044)	1	703	+		Breast(359;0.0889)	40					B2RDL2|Q53FY3|Q9NV41	Missense_Mutation	SNP	ENST00000266673.5	37	c.120C>A	CCDS9002.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.895610	0.72639	.	.	ENSG00000139291	ENST00000266673;ENST00000550524;ENST00000549735	.	.	.	5.45	3.45	0.39498	.	0.000000	0.85682	D	0.000000	T	0.69566	0.3125	M	0.74881	2.28	0.51482	D	0.999923	D;D	0.76494	0.999;0.979	D;P	0.66716	0.946;0.79	T	0.69826	-0.5040	9	0.51188	T	0.08	-9.5512	7.4633	0.27308	0.0:0.6208:0.0:0.3792	.	40;40	Q96HH6;Q96HH6-2	TMM19_HUMAN;.	R	40	.	ENSP00000266673:S40R	S	+	3	2	TMEM19	70366847	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.497000	0.22514	1.334000	0.45468	0.585000	0.79938	AGC		0.318	TMEM19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404801.1		NM_018279		7	49	1	0	0.000274275	0.004482	0.000284165	7	49		
SYT1	6857	broad.mit.edu	37	12	79689917	79689917	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:79689917C>G	ENST00000261205.4	+	7	1200	c.543C>G	c.(541-543)taC>taG	p.Y181*	SYT1_ENST00000552744.1_Nonsense_Mutation_p.Y181*|SYT1_ENST00000457153.2_Nonsense_Mutation_p.Y178*|SYT1_ENST00000393240.3_Nonsense_Mutation_p.Y181*	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	181	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000305}.				calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|detection of calcium ion (GO:0005513)|glutamate secretion (GO:0014047)|neurotransmitter secretion (GO:0007269)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of vesicle fusion (GO:0031340)|protein homooligomerization (GO:0051260)|regulation of exocytosis (GO:0017157)|regulation of regulated secretory pathway (GO:1903305)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking (GO:0048278)	cell junction (GO:0030054)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|endocytic vesicle membrane (GO:0030666)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol binding (GO:0005545)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|transporter activity (GO:0005215)	p.Y181*(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						CTGATCCTTACGTGAAAGTGT	0.433																																						uc001sys.2		NaN																	1	Substitution - Nonsense(1)		lung(1)	skin(3)|pancreas(2)|ovary(1)	6						c.(541-543)TAC>TAG		synaptotagmin I							104.0	102.0	103.0					12																	79689917		2203	4300	6503	SO:0001587	stop_gained	6857				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	g.chr12:79689917C>G		CCDS9017.1	12q21.2	2013-09-20			ENSG00000067715	ENSG00000067715		"""Synaptotagmins"""	11509	protein-coding gene	gene with protein product		185605		SYT, SVP65		1840599	Standard	NM_001135805		Approved	P65	uc001syv.3	P21579	OTTHUMG00000134326	ENST00000261205.4:c.543C>G	12.37:g.79689917C>G	ENSP00000261205:p.Tyr181*					SYT1_uc001syt.2_Nonsense_Mutation_p.Y181*|SYT1_uc001syu.2_Nonsense_Mutation_p.Y178*|SYT1_uc001syv.2_Nonsense_Mutation_p.Y181*	p.Y181*	NM_001135805	NP_001129277	P21579	SYT1_HUMAN			8	1214	+			181			Cytoplasmic (Potential).|Phospholipid binding (Probable).|C2 1.		Q6AI31	Nonsense_Mutation	SNP	ENST00000261205.4	37	c.543C>G	CCDS9017.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.88|11.88	1.771321|1.771321	0.31320|0.31320	.|.	.|.	ENSG00000067715|ENSG00000067715	ENST00000549559|ENST00000393240;ENST00000261205;ENST00000457153;ENST00000552744;ENST00000446242	.|.	.|.	.|.	5.52|5.52	-7.0|-7.0	0.01599|0.01599	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.27663|.	0.0680|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.39121|.	-0.9629|.	3|.	.|0.02654	.|T	.|1	.|.	15.7591|15.7591	0.78063|0.78063	0.0:0.5545:0.0:0.4455|0.0:0.5545:0.0:0.4455	.|.	.|.	.|.	.|.	R|X	83|181;181;178;181;181	.|.	.|ENSP00000261205:Y181X	T|Y	+|+	2|3	0|2	SYT1|SYT1	78214048|78214048	0.311000|0.311000	0.24536|0.24536	0.806000|0.806000	0.32338|0.32338	0.979000|0.979000	0.70002|0.70002	-0.372000|-0.372000	0.07504|0.07504	-1.263000|-1.263000	0.02455|0.02455	-0.956000|-0.956000	0.02647|0.02647	ACG|TAC		0.433	SYT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259415.1		NM_005639		31	40	0	0	0	0.010818	0	31	40		
PPFIA2	8499	broad.mit.edu	37	12	82147869	82147869	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:82147869A>G	ENST00000549396.1	-	3	292	c.132T>C	c.(130-132)cgT>cgC	p.R44R	PPFIA2_ENST00000548586.1_Silent_p.R44R|PPFIA2_ENST00000549325.1_Silent_p.R44R|PPFIA2_ENST00000333447.7_Silent_p.R44R|PPFIA2_ENST00000550584.2_Silent_p.R44R|PPFIA2_ENST00000552948.1_Silent_p.R44R	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	44					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TGTCTAGAAGACGATCCCTTT	0.527																																						uc001szo.1		NaN																	0				ovary(3)|lung(2)|pancreas(1)	6						c.(130-132)CGT>CGC		PTPRF interacting protein alpha 2							66.0	68.0	67.0					12																	82147869		1934	4145	6079	SO:0001819	synonymous_variant	8499							g.chr12:82147869A>G	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.132T>C	12.37:g.82147869A>G						PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA	p.R44R	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN			3	293	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Silent	SNP	ENST00000549396.1	37	c.132T>C	CCDS55857.1																																																																																				0.527	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1				4	25	0	0	0	0.009096	0	4	25		
CEP290	80184	broad.mit.edu	37	12	88482816	88482816	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:88482816G>C	ENST00000552810.1	-	31	4365	c.4022C>G	c.(4021-4023)gCc>gGc	p.A1341G	CEP290_ENST00000547691.2_Missense_Mutation_p.A401G|CEP290_ENST00000309041.7_Missense_Mutation_p.A1343G|CEP290_ENST00000397838.3_Missense_Mutation_p.A401G	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1341					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TACCTTTTGGGCTCCTTTGGT	0.358																																						uc001tar.2		NaN																	0				ovary(5)|breast(1)|pancreas(1)	7						c.(4021-4023)GCC>GGC		centrosomal protein 290kDa							62.0	58.0	59.0					12																	88482816		1809	4066	5875	SO:0001583	missense	80184				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	g.chr12:88482816G>C	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.4022C>G	12.37:g.88482816G>C	ENSP00000448012:p.Ala1341Gly					CEP290_uc001taq.2_Missense_Mutation_p.A401G	p.A1341G	NM_025114	NP_079390	O15078	CE290_HUMAN			31	4366	-			1341			Potential.		Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	ENST00000552810.1	37	c.4022C>G	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.640204	0.87859	.	.	ENSG00000198707	ENST00000547691;ENST00000552810;ENST00000309041;ENST00000397838	T;T;T;T	0.68025	0.27;-0.3;-0.3;0.27	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.80613	0.4656	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75836	-0.3177	10	0.24483	T	0.36	.	19.5464	0.95299	0.0:0.0:1.0:0.0	.	1341	O15078	CE290_HUMAN	G	401;1341;1343;401	ENSP00000446905:A401G;ENSP00000448012:A1341G;ENSP00000308021:A1343G;ENSP00000380938:A401G	ENSP00000308021:A1343G	A	-	2	0	CEP290	87006947	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.272000	0.78516	2.629000	0.89072	0.591000	0.81541	GCC		0.358	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1		NM_025114		16	29	0	0	0	0.00499	0	16	29		
KERA	11081	broad.mit.edu	37	12	91449642	91449642	+	Silent	SNP	T	T	C	rs375105205		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:91449642T>C	ENST00000266719.3	-	2	664	c.417A>G	c.(415-417)ccA>ccG	p.P139P		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	139					carbohydrate metabolic process (GO:0005975)|cornea development in camera-type eye (GO:0061303)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|response to stimulus (GO:0050896)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						TTCTTGGCAATGGAGAAGGTA	0.413																																						uc001tbl.2		NaN																	0				skin(1)	1						c.(415-417)CCA>CCG		keratocan precursor		T		0,4406		0,0,2203	118.0	113.0	115.0		417	2.1	1.0	12		115	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	KERA	NM_007035.3		0,1,6500	CC,CT,TT		0.0116,0.0,0.0077		139/353	91449642	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	11081				response to stimulus|visual perception	proteinaceous extracellular matrix		g.chr12:91449642T>C	AF063301	CCDS9037.1	12q21.3-q22	2014-09-17				ENSG00000139330		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6309	protein-coding gene	gene with protein product	"""keratocan proteoglycan"""	603288		CNA2		10565548, 10802664	Standard	NM_007035		Approved	SLRR2B	uc001tbl.3	O60938		ENST00000266719.3:c.417A>G	12.37:g.91449642T>C							p.P139P	NM_007035	NP_008966	O60938	KERA_HUMAN			2	1036	-			139			LRR 3.			Silent	SNP	ENST00000266719.3	37	c.417A>G	CCDS9037.1																																																																																				0.413	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407149.2		NM_007035		25	84	0	0	0	0.00333	0	25	84		
USP44	84101	broad.mit.edu	37	12	95907493	95907493	+	IGR	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:95907493G>A	ENST00000258499.3	-	0	4022				METAP2_ENST00000546753.1_Missense_Mutation_p.R394H|METAP2_ENST00000551840.1_Missense_Mutation_p.R416H|METAP2_ENST00000550777.1_Missense_Mutation_p.R381H|METAP2_ENST00000323666.5_Missense_Mutation_p.R417H|METAP2_ENST00000261220.9_Missense_Mutation_p.R394H	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44						mitotic nuclear division (GO:0007067)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deubiquitination (GO:0016579)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|regulation of spindle checkpoint (GO:0090231)	nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						GCCTTCTGCCGCAGATGGCTG	0.408																																						uc001tec.2		NaN																	0					0						c.(1249-1251)CGC>CAC		methionyl aminopeptidase 2	L-Methionine(DB00134)						131.0	125.0	127.0					12																	95907493		2203	4300	6503	SO:0001628	intergenic_variant	10988				N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chr12:95907493G>A	AK027434	CCDS9053.1	12q21.33	2005-08-08	2005-08-08			ENSG00000136014		"""Ubiquitin-specific peptidases"""	20064	protein-coding gene	gene with protein product		610993	"""ubiquitin specific protease 44"""			12838346	Standard	NM_001278393		Approved	FLJ14528	uc001teg.3	Q9H0E7			12.37:g.95907493G>A						METAP2_uc010suv.1_Missense_Mutation_p.R394H|METAP2_uc009ztd.2_Missense_Mutation_p.R381H|METAP2_uc001ted.2_Missense_Mutation_p.R416H|METAP2_uc001tef.2_Missense_Mutation_p.R394H|METAP2_uc001tee.2_RNA	p.R417H	NM_006838	NP_006829	P50579	AMPM2_HUMAN			11	1384	+			417					B2RDW3	Missense_Mutation	SNP	ENST00000258499.3	37	c.1250G>A	CCDS9053.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357141	0.82243	.	.	ENSG00000111142	ENST00000323666;ENST00000546753;ENST00000261220;ENST00000550777;ENST00000551840	.	.	.	5.83	4.94	0.65067	Winged helix-turn-helix transcription repressor DNA-binding (1);Peptidase M24, structural domain (2);	0.000000	0.85682	D	0.000000	T	0.61123	0.2322	M	0.87827	2.91	0.80722	D	1	P;D;P;P;P	0.62365	0.919;0.991;0.942;0.924;0.939	B;B;B;B;B	0.37888	0.177;0.248;0.212;0.169;0.26	T	0.72450	-0.4290	9	0.66056	D	0.02	-7.6336	14.9658	0.71193	0.0685:0.0:0.9315:0.0	.	394;381;394;416;417	B4DUX5;F8VRR3;G3XA91;F8VQZ7;P50579	.;.;.;.;AMPM2_HUMAN	H	417;394;394;381;416	.	ENSP00000261220:R394H	R	+	2	0	METAP2	94431624	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	1.474000	0.48178	-0.140000	0.14226	CGC		0.408	USP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408312.1		NM_032147		4	76	0	0	0	0.009096	0	4	76		
HAL	3034	broad.mit.edu	37	12	96374496	96374496	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:96374496G>C	ENST00000261208.3	-	17	1725	c.1357C>G	c.(1357-1359)Cta>Gta	p.L453V	HAL_ENST00000541929.1_Missense_Mutation_p.L245V|HAL_ENST00000538703.1_Missense_Mutation_p.L453V	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	453					biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	histidine ammonia-lyase activity (GO:0004397)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	AAGTAGTCTAGGGCCTGAAAG	0.493																																					NSCLC(169;943 2815 23563 30031)	uc001tem.1		NaN																	0				ovary(2)|skin(1)	3						c.(1357-1359)CTA>GTA		histidine ammonia-lyase	L-Histidine(DB00117)						137.0	129.0	132.0					12																	96374496		2203	4300	6503	SO:0001583	missense	3034				biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity	g.chr12:96374496G>C		CCDS9058.1, CCDS58264.1, CCDS58265.1	12q22-q24.1	1991-07-12				ENSG00000084110	4.3.1.3		4806	protein-coding gene	gene with protein product		609457		HIS			Standard	NM_002108		Approved		uc001tem.2	P42357	OTTHUMG00000170354	ENST00000261208.3:c.1357C>G	12.37:g.96374496G>C	ENSP00000261208:p.Leu453Val					HAL_uc009zti.1_RNA|HAL_uc010suw.1_Missense_Mutation_p.L245V|HAL_uc010sux.1_Missense_Mutation_p.L453V	p.L453V	NM_002108	NP_002099	P42357	HUTH_HUMAN			17	1654	-			453					B4DQC1|B4E0V8|F5GXF2|F5H1U5|Q4VB92|Q4VB93	Missense_Mutation	SNP	ENST00000261208.3	37	c.1357C>G	CCDS9058.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.198631	0.58126	.	.	ENSG00000084110	ENST00000261208;ENST00000541929;ENST00000538703	T;T;T	0.77877	-1.13;-1.13;-1.13	5.66	4.76	0.60689	L-Aspartase-like (1);	0.000000	0.85682	D	0.000000	D	0.89072	0.6611	H	0.94582	3.555	0.54753	D	0.999981	D;D	0.64830	0.994;0.987	D;D	0.67103	0.947;0.949	D	0.89787	0.3965	10	0.59425	D	0.04	-10.1278	8.0518	0.30583	0.2508:0.0:0.7492:0.0	.	453;453	F5GXF2;P42357	.;HUTH_HUMAN	V	453;245;453	ENSP00000261208:L453V;ENSP00000446364:L245V;ENSP00000440861:L453V	ENSP00000261208:L453V	L	-	1	2	HAL	94898627	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	2.215000	0.42862	2.663000	0.90544	0.655000	0.94253	CTA		0.493	HAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408644.1				20	72	0	0	0	0.005443	0	20	72		
MYBPC1	4604	broad.mit.edu	37	12	102036322	102036322	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:102036322A>G	ENST00000550270.1	+	9	716	c.716A>G	c.(715-717)aAg>aGg	p.K239R	MYBPC1_ENST00000361685.2_Missense_Mutation_p.K264R|MYBPC1_ENST00000361466.2_Missense_Mutation_p.K264R|MYBPC1_ENST00000536007.1_Missense_Mutation_p.K220R|MYBPC1_ENST00000392934.3_Missense_Mutation_p.K226R|MYBPC1_ENST00000547509.1_Missense_Mutation_p.K225R|MYBPC1_ENST00000547405.1_Missense_Mutation_p.K213R|MYBPC1_ENST00000441232.1_Missense_Mutation_p.K239R|MYBPC1_ENST00000541119.1_Missense_Mutation_p.K227R|MYBPC1_ENST00000553190.1_Missense_Mutation_p.K239R|MYBPC1_ENST00000549145.1_Missense_Mutation_p.K252R|MYBPC1_ENST00000452455.2_Missense_Mutation_p.K239R|MYBPC1_ENST00000360610.2_Missense_Mutation_p.K239R|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000551300.1_Missense_Mutation_p.K140R|MYBPC1_ENST00000545503.2_Missense_Mutation_p.K239R			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	239					cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						GGCATGCTCAAGCGACTCAAG	0.627																																						uc001tii.2		NaN																	0				ovary(2)|liver(1)|skin(1)	4						c.(715-717)AAG>AGG		myosin binding protein C, slow type isoform 3							72.0	59.0	63.0					12																	102036322		2203	4300	6503	SO:0001583	missense	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:102036322A>G		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.716A>G	12.37:g.102036322A>G	ENSP00000449702:p.Lys239Arg					MYBPC1_uc001tif.1_Missense_Mutation_p.K252R|MYBPC1_uc001tig.2_Missense_Mutation_p.K264R|MYBPC1_uc010svq.1_Missense_Mutation_p.K226R|MYBPC1_uc001tih.2_Missense_Mutation_p.K264R|MYBPC1_uc001tij.2_Missense_Mutation_p.K239R|MYBPC1_uc010svr.1_Missense_Mutation_p.K239R|MYBPC1_uc010svs.1_Missense_Mutation_p.K239R|MYBPC1_uc010svt.1_Missense_Mutation_p.K227R|MYBPC1_uc010svu.1_Missense_Mutation_p.K220R|MYBPC1_uc001tik.2_Missense_Mutation_p.K213R	p.K239R	NM_206820	NP_996556	Q00872	MYPC1_HUMAN			9	818	+			239					B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	ENST00000550270.1	37	c.716A>G	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	A	15.40	2.822486	0.50739	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000540770;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.63913	0.01;-0.04;-0.04;-0.03;-0.02;-0.07;-0.01;-0.03;-0.0;-0.04;0.12;-0.03;-0.01;0.01;-0.03	5.53	3.16	0.36331	.	0.266734	0.26200	N	0.025745	T	0.53738	0.1815	L	0.52266	1.64	0.38391	D	0.945419	B;B;B;B;B;B;B;B;B;B;B	0.21309	0.002;0.001;0.012;0.001;0.001;0.0;0.001;0.001;0.054;0.001;0.001	B;B;B;B;B;B;B;B;B;B;B	0.26693	0.012;0.006;0.021;0.006;0.008;0.002;0.014;0.008;0.072;0.014;0.019	T	0.46484	-0.9188	9	.	.	.	.	10.0135	0.42001	0.8621:0.0:0.1379:0.0	.	220;227;239;239;226;213;239;239;264;264;252	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2;F8VZY0	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.;.	R	213;239;239;239;226;225;264;252;239;264;239;220;227;264;140;239	ENSP00000448175:K213R;ENSP00000400908:K239R;ENSP00000388989:K239R;ENSP00000353822:K239R;ENSP00000376665:K226R;ENSP00000447362:K225R;ENSP00000354845:K264R;ENSP00000447660:K252R;ENSP00000447900:K239R;ENSP00000440034:K239R;ENSP00000446128:K220R;ENSP00000442847:K227R;ENSP00000354849:K264R;ENSP00000447116:K140R;ENSP00000449702:K239R	.	K	+	2	0	MYBPC1	100560453	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	1.562000	0.36353	0.381000	0.24851	0.460000	0.39030	AAG		0.627	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1				14	26	0	0	0	0.001855	0	14	26		
CHPT1	56994	broad.mit.edu	37	12	102107950	102107950	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:102107950G>A	ENST00000229266.3	+	2	591	c.356G>A	c.(355-357)aGa>aAa	p.R119K	CHPT1_ENST00000550385.1_3'UTR|CHPT1_ENST00000549872.1_Missense_Mutation_p.R119K	NM_020244.2	NP_064629.2	Q8WUD6	CHPT1_HUMAN	choline phosphotransferase 1	119					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|regulation of cell growth (GO:0001558)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	diacylglycerol binding (GO:0019992)|diacylglycerol cholinephosphotransferase activity (GO:0004142)|metal ion binding (GO:0046872)			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						AAACAAGCCAGAAGAACAAAC	0.378																																						uc001tin.2		NaN																	0					0						c.(355-357)AGA>AAA		choline phosphotransferase 1							147.0	158.0	154.0					12																	102107950		2203	4300	6503	SO:0001583	missense	56994				platelet activating factor biosynthetic process|regulation of cell growth	Golgi membrane|integral to membrane|microsome	diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding	g.chr12:102107950G>A		CCDS9086.1	12q	2010-07-08				ENSG00000111666	2.7.8.2		17852	protein-coding gene	gene with protein product	"""phosphatidylcholine synthesizing enzyme"""					10893425	Standard	NM_020244		Approved	CPT1	uc001tin.3	Q8WUD6		ENST00000229266.3:c.356G>A	12.37:g.102107950G>A	ENSP00000229266:p.Arg119Lys					CHPT1_uc001tio.2_RNA|CHPT1_uc001tip.1_Missense_Mutation_p.R119K	p.R119K	NM_020244	NP_064629	Q8WUD6	CHPT1_HUMAN			2	579	+			119					B3KQM2|Q7Z7H0|Q7Z7H1|Q7Z7H2|Q8IWQ4|Q8IWQ5|Q8WYI4|Q9NRQ6|Q9NRQ7|Q9Y6M6	Missense_Mutation	SNP	ENST00000229266.3	37	c.356G>A	CCDS9086.1	.	.	.	.	.	.	.	.	.	.	G	35	5.595030	0.96602	.	.	ENSG00000111666	ENST00000229266;ENST00000549872	T;T	0.73897	-0.79;-0.79	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.92424	0.7595	H	0.98594	4.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94779	0.7952	10	0.87932	D	0	-1.3901	20.063	0.97692	0.0:0.0:1.0:0.0	.	119;119	F8W1B3;Q8WUD6	.;CHPT1_HUMAN	K	119	ENSP00000229266:R119K;ENSP00000448766:R119K	ENSP00000229266:R119K	R	+	2	0	CHPT1	100632081	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.279000	0.95777	2.735000	0.93741	0.655000	0.94253	AGA		0.378	CHPT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409173.1		NM_020244		52	124	0	0	0	0.01441	0	52	124		
HSP90B1	7184	broad.mit.edu	37	12	104336508	104336508	+	Silent	SNP	G	G	A	rs372371380		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:104336508G>A	ENST00000299767.5	+	12	1760	c.1578G>A	c.(1576-1578)caG>caA	p.Q526Q		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	526					actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	GCCTAGACCAGTATGTGGAAA	0.423																																						uc001tkb.1		NaN																	0				ovary(2)|skin(1)	3						c.(1576-1578)CAG>CAA		heat shock protein 90kDa beta, member 1	Rifabutin(DB00615)	G		1,4405	2.1+/-5.4	0,1,2202	104.0	98.0	100.0		1578	2.4	1.0	12		100	0,8600		0,0,4300	no	coding-synonymous	HSP90B1	NM_003299.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		526/804	104336508	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7184				actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding	g.chr12:104336508G>A	AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"""Heat shock proteins / HSPC"""	12028	protein-coding gene	gene with protein product		191175	"""tumor rejection antigen (gp96) 1"""	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.1578G>A	12.37:g.104336508G>A						HSP90B1_uc010swg.1_Silent_p.Q191Q|HSP90B1_uc009zui.1_Intron	p.Q526Q	NM_003299	NP_003290	P14625	ENPL_HUMAN			12	1683	+			526					Q96A97	Silent	SNP	ENST00000299767.5	37	c.1578G>A	CCDS9094.1																																																																																				0.423	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407349.1		NM_003299		18	60	0	0	0	0.006122	0	18	60		
MTERF2	80298	broad.mit.edu	37	12	107371523	107371523	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:107371523C>T	ENST00000552029.1	-	2	3038	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K	MTERFD3_ENST00000240050.4_Missense_Mutation_p.E324K|MTERFD3_ENST00000392830.2_Missense_Mutation_p.E324K|C12orf23_ENST00000551237.1_Intron			Q49AM1	MTEF2_HUMAN		324					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	transcription regulatory region DNA binding (GO:0044212)			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						GGTGTTAATTCAAGAACCATT	0.358																																						uc001tme.1		NaN																	0					0						c.(970-972)GAA>AAA		transcription termination factor-like protein							207.0	211.0	209.0					12																	107371523		2203	4300	6503	SO:0001583	missense	80298				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding	g.chr12:107371523C>T																												ENST00000552029.1:c.970G>A	12.37:g.107371523C>T	ENSP00000447651:p.Glu324Lys					MTERFD3_uc001tmf.1_Missense_Mutation_p.E324K|MTERFD3_uc001tmg.1_Missense_Mutation_p.E324K|MTERFD3_uc001tmh.1_Missense_Mutation_p.E324K	p.E324K	NM_025198	NP_079474	Q49AM1	MTER3_HUMAN			2	2789	-			324					Q53HM2|Q9H4L6|Q9H7Y9	Missense_Mutation	SNP	ENST00000552029.1	37	c.970G>A	CCDS9111.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.973432	0.92919	.	.	ENSG00000120832	ENST00000392830;ENST00000240050;ENST00000552029	T;T;T	0.09538	2.97;2.97;2.97	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.31702	0.0805	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.06935	-1.0799	10	0.08599	T	0.76	-14.071	20.0755	0.97742	0.0:1.0:0.0:0.0	.	324	Q49AM1	MTER3_HUMAN	K	324	ENSP00000376575:E324K;ENSP00000240050:E324K;ENSP00000447651:E324K	ENSP00000240050:E324K	E	-	1	0	MTERFD3	105895653	1.000000	0.71417	0.987000	0.45799	0.974000	0.67602	5.788000	0.69020	2.749000	0.94314	0.460000	0.39030	GAA		0.358	MTERFD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406835.1				38	106	0	0	0	0.006999	0	38	106		
CORO1C	23603	broad.mit.edu	37	12	109052672	109052672	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:109052672A>C	ENST00000261401.3	-	5	644	c.472T>G	c.(472-474)Tgg>Ggg	p.W158G	CORO1C_ENST00000549384.1_Intron|CORO1C_ENST00000420959.2_Missense_Mutation_p.W211G|CORO1C_ENST00000541050.1_Missense_Mutation_p.W158G|CORO1C_ENST00000421578.2_Missense_Mutation_p.W53G|CORO1C_ENST00000549772.1_Missense_Mutation_p.W164G	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	158					actin cytoskeleton organization (GO:0030036)|phagocytosis (GO:0006909)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						CCCACATTCCAGATGATAATG	0.413																																						uc001tnj.2		NaN																	0				skin(3)	3						c.(472-474)TGG>GGG		coronin, actin binding protein, 1C isoform 1							137.0	125.0	129.0					12																	109052672		2203	4300	6503	SO:0001583	missense	23603				actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding	g.chr12:109052672A>C	BC002342	CCDS9120.1, CCDS61236.1	12q24.1	2013-01-10	2001-11-28			ENSG00000110880		"""Coronins"", ""WD repeat domain containing"""	2254	protein-coding gene	gene with protein product		605269	"""coronin, actin-binding protein, 1C"""			9778037, 10461187	Standard	NM_014325		Approved	coronin-3, HCRNN4	uc009zva.4	Q9ULV4		ENST00000261401.3:c.472T>G	12.37:g.109052672A>C	ENSP00000261401:p.Trp158Gly					CORO1C_uc009zva.2_Missense_Mutation_p.W211G|CORO1C_uc010sxf.1_Intron	p.W158G	NM_014325	NP_055140	Q9ULV4	COR1C_HUMAN			5	568	-			158			WD 2.		A7MAP0|A7MAP1|B3KU12|Q9NSK5	Missense_Mutation	SNP	ENST00000261401.3	37	c.472T>G	CCDS9120.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.384509	0.82792	.	.	ENSG00000110880	ENST00000261401;ENST00000541050;ENST00000421578;ENST00000549772;ENST00000420959;ENST00000552871;ENST00000547294;ENST00000550032;ENST00000551550;ENST00000546571	D;D;D;D;D;D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73	5.7	5.7	0.88788	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.95567	0.8559	H	0.99697	4.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97815	1.0253	10	0.87932	D	0	-22.1441	15.9705	0.80013	1.0:0.0:0.0:0.0	.	211;158	A7MAP1;Q9ULV4	.;COR1C_HUMAN	G	158;158;53;164;211;53;158;158;158;158	ENSP00000261401:W158G;ENSP00000438341:W158G;ENSP00000415554:W53G;ENSP00000447534:W164G;ENSP00000394496:W211G;ENSP00000449658:W53G;ENSP00000449330:W158G;ENSP00000447989:W158G;ENSP00000448527:W158G;ENSP00000448195:W158G	ENSP00000261401:W158G	W	-	1	0	CORO1C	107576801	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.957000	0.93082	2.161000	0.67846	0.482000	0.46254	TGG		0.413	CORO1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403802.1		NM_014325		20	61	0	0	0	0.012319	0	20	61		
UBE3B	89910	broad.mit.edu	37	12	109935646	109935646	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:109935646C>T	ENST00000342494.3	+	10	1332	c.737C>T	c.(736-738)tCa>tTa	p.S246L	UBE3B_ENST00000434735.2_Missense_Mutation_p.S246L|UBE3B_ENST00000280774.5_Missense_Mutation_p.S246L	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	246					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GCACAGTTCTCAGACAATCTG	0.527																																						uc001top.2		NaN																	0				ovary(2)|lung(2)	4						c.(736-738)TCA>TTA		ubiquitin protein ligase E3B							252.0	190.0	211.0					12																	109935646		2203	4300	6503	SO:0001583	missense	89910				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr12:109935646C>T	BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.737C>T	12.37:g.109935646C>T	ENSP00000340596:p.Ser246Leu					UBE3B_uc001toq.2_Missense_Mutation_p.S246L|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Missense_Mutation_p.S246L	p.S246L	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN			10	1340	+			246					A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Missense_Mutation	SNP	ENST00000342494.3	37	c.737C>T	CCDS9129.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.547617	0.86022	.	.	ENSG00000151148	ENST00000434735;ENST00000280774;ENST00000539599;ENST00000342494	T;T;T;T	0.51071	1.1;0.72;1.35;1.1	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.58047	0.2095	M	0.79926	2.475	0.80722	D	1	B	0.33549	0.417	B	0.36534	0.227	T	0.61778	-0.6993	10	0.87932	D	0	-20.5992	19.4259	0.94741	0.0:1.0:0.0:0.0	.	246	Q7Z3V4	UBE3B_HUMAN	L	246	ENSP00000391529:S246L;ENSP00000280774:S246L;ENSP00000443131:S246L;ENSP00000340596:S246L	ENSP00000280774:S246L	S	+	2	0	UBE3B	108420029	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.079000	0.76829	2.839000	0.97877	0.585000	0.79938	TCA		0.527	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1		NM_183415		32	90	0	0	0	0.010818	0	32	90		
UBE3B	89910	broad.mit.edu	37	12	109940962	109940962	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:109940962A>G	ENST00000342494.3	+	14	2012	c.1417A>G	c.(1417-1419)Act>Gct	p.T473A	UBE3B_ENST00000434735.2_Missense_Mutation_p.T473A|UBE3B_ENST00000280774.5_Missense_Mutation_p.T473A|UBE3B_ENST00000535900.1_3'UTR	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	473					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CTCGCTGACAACTCTCACACA	0.517																																						uc001top.2		NaN																	0				ovary(2)|lung(2)	4						c.(1417-1419)ACT>GCT		ubiquitin protein ligase E3B							110.0	95.0	100.0					12																	109940962		2203	4300	6503	SO:0001583	missense	89910				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr12:109940962A>G	BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.1417A>G	12.37:g.109940962A>G	ENSP00000340596:p.Thr473Ala					UBE3B_uc001toq.2_Missense_Mutation_p.T473A|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Missense_Mutation_p.T473A	p.T473A	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN			14	2020	+			473					A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Missense_Mutation	SNP	ENST00000342494.3	37	c.1417A>G	CCDS9129.1	.	.	.	.	.	.	.	.	.	.	A	17.93	3.508321	0.64410	.	.	ENSG00000151148	ENST00000434735;ENST00000280774;ENST00000539599;ENST00000342494	T;T;T;T	0.50813	1.15;0.73;1.37;1.15	5.81	5.81	0.92471	.	0.044123	0.85682	D	0.000000	T	0.48696	0.1514	L	0.53249	1.67	0.80722	D	1	P	0.35174	0.488	B	0.39094	0.29	T	0.47761	-0.9092	10	0.44086	T	0.13	-39.171	15.004	0.71498	1.0:0.0:0.0:0.0	.	473	Q7Z3V4	UBE3B_HUMAN	A	473	ENSP00000391529:T473A;ENSP00000280774:T473A;ENSP00000443131:T473A;ENSP00000340596:T473A	ENSP00000280774:T473A	T	+	1	0	UBE3B	108425345	1.000000	0.71417	0.094000	0.20943	0.554000	0.35429	8.469000	0.90395	2.213000	0.71641	0.533000	0.62120	ACT		0.517	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1		NM_183415		12	39	0	0	0	0.013537	0	12	39		
OAS2	4939	broad.mit.edu	37	12	113442824	113442824	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:113442824C>A	ENST00000342315.4	+	7	1479	c.1265C>A	c.(1264-1266)aCc>aAc	p.T422N	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000392583.2_Missense_Mutation_p.T422N	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	422	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AAAAGCTACACCTCCCAAAAA	0.488																																					Pancreas(199;709 2232 18410 33584 35052)	uc001tuj.2		NaN																	0				ovary(1)	1						c.(1264-1266)ACC>AAC		2'-5'-oligoadenylate synthetase 2 isoform 1							87.0	81.0	83.0					12																	113442824		2203	4300	6503	SO:0001583	missense	4939				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113442824C>A	M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"""2'-5'-oligoadenylate synthetase 2 (69-71 kD)"""			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.1265C>A	12.37:g.113442824C>A	ENSP00000342278:p.Thr422Asn					OAS2_uc001tui.1_Missense_Mutation_p.T422N	p.T422N	NM_016817	NP_058197	P29728	OAS2_HUMAN			7	1405	+			422			OAS domain 2.		A8K9T1|Q6PJ33|Q86XX8	Missense_Mutation	SNP	ENST00000342315.4	37	c.1265C>A	CCDS31906.1	.	.	.	.	.	.	.	.	.	.	.	9.914	1.210189	0.22289	.	.	ENSG00000111335	ENST00000342315;ENST00000392583	T;T	0.07114	3.22;3.22	4.33	-0.31	0.12765	2-5-oligoadenylate synthetase, N-terminal (1);Nucleotidyl transferase domain (1);	2.005490	0.02470	N	0.087420	T	0.09555	0.0235	M	0.62723	1.935	0.09310	N	1	P;P	0.43231	0.801;0.589	B;B	0.38106	0.265;0.173	T	0.28332	-1.0047	10	0.36615	T	0.2	-29.3484	1.9156	0.03297	0.3606:0.3565:0.1765:0.1065	.	422;422	P29728;P29728-2	OAS2_HUMAN;.	N	422	ENSP00000342278:T422N;ENSP00000376362:T422N	ENSP00000342278:T422N	T	+	2	0	OAS2	111927207	0.000000	0.05858	0.009000	0.14445	0.001000	0.01503	0.200000	0.17257	0.128000	0.18479	-0.218000	0.12543	ACC		0.488	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405937.1				19	34	1	0	1.67942e-08	0.006122	1.77192e-08	19	34		
DNAH10	196385	broad.mit.edu	37	12	124311275	124311275	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:124311275G>A	ENST00000409039.3	+	24	3892	c.3867G>A	c.(3865-3867)ctG>ctA	p.L1289L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1289	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGATCAACCTGAATGTGCAGA	0.478																																						uc001uft.3		NaN																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(3865-3867)CTG>CTA		dynein, axonemal, heavy chain 10							134.0	129.0	131.0					12																	124311275		1889	4112	6001	SO:0001819	synonymous_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124311275G>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.3867G>A	12.37:g.124311275G>A							p.L1289L	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	24	3892	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1289			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	c.3867G>A	CCDS9255.2																																																																																				0.478	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3				38	85	0	0	0	0.004878	0	38	85		
GOLGA3	2802	broad.mit.edu	37	12	133351795	133351795	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:133351795T>G	ENST00000450791.2	-	21	4258	c.4075A>C	c.(4075-4077)Aac>Cac	p.N1359H	GOLGA3_ENST00000204726.3_Missense_Mutation_p.N1359H|GOLGA3_ENST00000456883.2_Missense_Mutation_p.N1359H			Q08378	GOGA3_HUMAN	golgin A3	1359	Gln-rich.				intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GTCTTCATGTTGTTCTTCAGC	0.582																																						uc001ukz.1		NaN																	0				ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(4075-4077)AAC>CAC		Golgi autoantigen, golgin subfamily a, 3							94.0	80.0	84.0					12																	133351795		2203	4300	6503	SO:0001583	missense	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133351795T>G	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.4075A>C	12.37:g.133351795T>G	ENSP00000410378:p.Asn1359His					GOLGA3_uc001ula.1_Missense_Mutation_p.N1359H	p.N1359H	NM_005895	NP_005886	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	22	4634	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	1359			Potential.|Gln-rich.		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	c.4075A>C	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.762076	0.89932	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883	T;T;T	0.79749	-1.3;-1.3;1.88	6.07	4.92	0.64577	.	0.188230	0.64402	D	0.000003	T	0.81264	0.4786	L	0.44542	1.39	0.80722	D	1	D;D	0.59767	0.986;0.98	P;P	0.54100	0.742;0.736	T	0.81202	-0.1040	10	0.52906	T	0.07	.	12.0359	0.53425	0.0:0.067:0.0:0.933	.	1359;1359	Q08378-2;Q08378	.;GOGA3_HUMAN	H	1359	ENSP00000204726:N1359H;ENSP00000410378:N1359H;ENSP00000409303:N1359H	ENSP00000204726:N1359H	N	-	1	0	GOLGA3	131861868	1.000000	0.71417	0.965000	0.40720	0.971000	0.66376	5.934000	0.70138	1.111000	0.41721	0.533000	0.62120	AAC		0.582	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2		NM_005895		16	50	0	0	0	0.003163	0	16	50		
MPHOSPH8	54737	broad.mit.edu	37	13	20220640	20220640	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:20220640G>C	ENST00000361479.5	+	3	495	c.427G>C	c.(427-429)Gag>Cag	p.E143Q	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.E143Q	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	143					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)			breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		TCAGCAAAGTGAGACAAAAGA	0.338																																						uc001umh.2		NaN																	0					0						c.(427-429)GAG>CAG		M-phase phosphoprotein 8							24.0	26.0	26.0					13																	20220640		2200	4296	6496	SO:0001583	missense	54737				cell cycle	cytoplasm|nucleus		g.chr13:20220640G>C	AK056785, AJ293409	CCDS9287.1	13q12.11	2013-01-10			ENSG00000196199	ENSG00000196199		"""Ankyrin repeat domain containing"""	29810	protein-coding gene	gene with protein product		611626				8885239	Standard	NM_017520		Approved	mpp8, HSMPP8	uc001umh.3	Q99549	OTTHUMG00000016498	ENST00000361479.5:c.427G>C	13.37:g.20220640G>C	ENSP00000355388:p.Glu143Gln					MPHOSPH8_uc001umf.1_Missense_Mutation_p.E143Q|MPHOSPH8_uc001umg.2_Missense_Mutation_p.E143Q|MPHOSPH8_uc001umi.2_5'UTR	p.E143Q	NM_017520	NP_059990	Q99549	MPP8_HUMAN		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)	3	436	+		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)	143					B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Missense_Mutation	SNP	ENST00000361479.5	37	c.427G>C	CCDS9287.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.734793	0.89482	.	.	ENSG00000196199	ENST00000414242;ENST00000361479;ENST00000538024	T;T	0.37235	1.22;1.21	6.02	6.02	0.97574	.	0.501136	0.23347	N	0.049177	T	0.54224	0.1845	L	0.55481	1.735	0.47698	D	0.999493	D;D;D	0.71674	0.981;0.969;0.998	P;P;P	0.59761	0.617;0.811;0.863	T	0.37934	-0.9684	10	0.37606	T	0.19	.	20.5373	0.99239	0.0:0.0:1.0:0.0	.	143;143;143	Q99549;Q99549-2;B3KS10	MPP8_HUMAN;.;.	Q	143	ENSP00000414663:E143Q;ENSP00000355388:E143Q	ENSP00000355388:E143Q	E	+	1	0	MPHOSPH8	19118640	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.875000	0.69660	2.857000	0.98124	0.650000	0.86243	GAG		0.338	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044028.2		NM_017520		5	32	0	0	0	0.001168	0	5	32		
MPHOSPH8	54737	broad.mit.edu	37	13	20220723	20220723	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:20220723G>A	ENST00000361479.5	+	3	578	c.510G>A	c.(508-510)aaG>aaA	p.K170K	MPHOSPH8_ENST00000414242.2_Silent_p.K170K	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	170	Lys-rich.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)			breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		ATCTGAAAAAGAAAAAAGCAA	0.378																																						uc001umh.2		NaN																	0					0						c.(508-510)AAG>AAA		M-phase phosphoprotein 8							27.0	30.0	29.0					13																	20220723		2203	4299	6502	SO:0001819	synonymous_variant	54737				cell cycle	cytoplasm|nucleus		g.chr13:20220723G>A	AK056785, AJ293409	CCDS9287.1	13q12.11	2013-01-10			ENSG00000196199	ENSG00000196199		"""Ankyrin repeat domain containing"""	29810	protein-coding gene	gene with protein product		611626				8885239	Standard	NM_017520		Approved	mpp8, HSMPP8	uc001umh.3	Q99549	OTTHUMG00000016498	ENST00000361479.5:c.510G>A	13.37:g.20220723G>A						MPHOSPH8_uc001umf.1_Silent_p.K170K|MPHOSPH8_uc001umg.2_Silent_p.K170K|MPHOSPH8_uc001umi.2_5'UTR	p.K170K	NM_017520	NP_059990	Q99549	MPP8_HUMAN		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)	3	519	+		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)	170			Lys-rich.		B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Silent	SNP	ENST00000361479.5	37	c.510G>A	CCDS9287.1																																																																																				0.378	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044028.2		NM_017520		6	33	0	0	0	0.001984	0	6	33		
MPHOSPH8	54737	broad.mit.edu	37	13	20220818	20220818	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:20220818G>C	ENST00000361479.5	+	3	673	c.605G>C	c.(604-606)aGa>aCa	p.R202T	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.R202T	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	202	Lys-rich.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)			breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		ACAAAGAAAAGAATTTCTGAA	0.338																																						uc001umh.2		NaN																	0					0						c.(604-606)AGA>ACA		M-phase phosphoprotein 8																																				SO:0001583	missense	54737				cell cycle	cytoplasm|nucleus		g.chr13:20220818G>C	AK056785, AJ293409	CCDS9287.1	13q12.11	2013-01-10			ENSG00000196199	ENSG00000196199		"""Ankyrin repeat domain containing"""	29810	protein-coding gene	gene with protein product		611626				8885239	Standard	NM_017520		Approved	mpp8, HSMPP8	uc001umh.3	Q99549	OTTHUMG00000016498	ENST00000361479.5:c.605G>C	13.37:g.20220818G>C	ENSP00000355388:p.Arg202Thr					MPHOSPH8_uc001umf.1_Missense_Mutation_p.R202T|MPHOSPH8_uc001umg.2_Missense_Mutation_p.R202T|MPHOSPH8_uc001umi.2_5'UTR	p.R202T	NM_017520	NP_059990	Q99549	MPP8_HUMAN		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)	3	614	+		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)	202			Lys-rich.		B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Missense_Mutation	SNP	ENST00000361479.5	37	c.605G>C	CCDS9287.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.926006	0.73327	.	.	ENSG00000196199	ENST00000414242;ENST00000361479;ENST00000538024	T;T	0.39787	1.06;1.07	6.02	6.02	0.97574	.	0.328903	0.33217	N	0.005142	T	0.65228	0.2671	M	0.66939	2.045	0.43230	D	0.995123	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.74023	0.922;0.975;0.982	T	0.60424	-0.7266	10	0.44086	T	0.13	.	20.5373	0.99239	0.0:0.0:1.0:0.0	.	202;202;202	Q99549;Q99549-2;B3KS10	MPP8_HUMAN;.;.	T	202	ENSP00000414663:R202T;ENSP00000355388:R202T	ENSP00000355388:R202T	R	+	2	0	MPHOSPH8	19118818	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.647000	0.74354	2.857000	0.98124	0.650000	0.86243	AGA		0.338	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044028.2		NM_017520		8	26	0	0	0	0.00308	0	8	26		
MPHOSPH8	54737	broad.mit.edu	37	13	20221193	20221193	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:20221193G>C	ENST00000361479.5	+	3	1048	c.980G>C	c.(979-981)aGa>aCa	p.R327T	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.R327T	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	327					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)			breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		ACCGATGTCAGAGGCAGGAGG	0.512																																						uc001umh.2		NaN																	0					0						c.(979-981)AGA>ACA		M-phase phosphoprotein 8							64.0	66.0	66.0					13																	20221193		2203	4300	6503	SO:0001583	missense	54737				cell cycle	cytoplasm|nucleus		g.chr13:20221193G>C	AK056785, AJ293409	CCDS9287.1	13q12.11	2013-01-10			ENSG00000196199	ENSG00000196199		"""Ankyrin repeat domain containing"""	29810	protein-coding gene	gene with protein product		611626				8885239	Standard	NM_017520		Approved	mpp8, HSMPP8	uc001umh.3	Q99549	OTTHUMG00000016498	ENST00000361479.5:c.980G>C	13.37:g.20221193G>C	ENSP00000355388:p.Arg327Thr					MPHOSPH8_uc001umf.1_Missense_Mutation_p.R327T|MPHOSPH8_uc001umg.2_Missense_Mutation_p.R327T|MPHOSPH8_uc001umi.2_Missense_Mutation_p.R24T	p.R327T	NM_017520	NP_059990	Q99549	MPP8_HUMAN		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)	3	989	+		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)	327					B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Missense_Mutation	SNP	ENST00000361479.5	37	c.980G>C	CCDS9287.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.825980	0.32237	.	.	ENSG00000196199	ENST00000414242;ENST00000361479;ENST00000538024	T;T	0.38240	1.15;1.16	5.81	-4.19	0.03835	.	1.249760	0.06624	U	0.757916	T	0.34542	0.0901	L	0.43152	1.355	0.09310	N	1	P;P;P;P	0.50272	0.763;0.546;0.787;0.933	B;B;B;B	0.42282	0.382;0.205;0.372;0.343	T	0.52019	-0.8631	10	0.52906	T	0.07	.	17.9584	0.89076	0.3588:0.0:0.6412:0.0	.	327;327;327;327	F5H8H9;Q99549;Q99549-2;B3KS10	.;MPP8_HUMAN;.;.	T	327	ENSP00000414663:R327T;ENSP00000355388:R327T	ENSP00000355388:R327T	R	+	2	0	MPHOSPH8	19119193	0.002000	0.14202	0.000000	0.03702	0.035000	0.12851	-0.032000	0.12266	-0.747000	0.04759	-0.312000	0.09012	AGA		0.512	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044028.2		NM_017520		5	38	0	0	0	0.001984	0	5	38		
ZMYM2	7750	broad.mit.edu	37	13	20633593	20633593	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:20633593C>T	ENST00000382874.2	+	17	2820	c.2630C>T	c.(2629-2631)aCt>aTt	p.T877I	ZMYM2_ENST00000382869.3_Missense_Mutation_p.T877I|ZMYM2_ENST00000382871.2_Missense_Mutation_p.T877I|ZMYM2_ENST00000382883.3_3'UTR	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	877					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		TTAGATGATACTTGGAGGACA	0.338																																						uc001umr.2		NaN																	0				lung(3)|ovary(2)|prostate(1)	6						c.(2629-2631)ACT>ATT		zinc finger protein 198							203.0	176.0	184.0					13																	20633593		1892	4126	6018	SO:0001583	missense	7750				regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding	g.chr13:20633593C>T	AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"""Zinc fingers, MYM type"""	12989	protein-coding gene	gene with protein product		602221	"""zinc finger protein 198"""	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.2630C>T	13.37:g.20633593C>T	ENSP00000372327:p.Thr877Ile					ZMYM2_uc001ums.2_Missense_Mutation_p.T877I|ZMYM2_uc001umt.2_Missense_Mutation_p.T877I|ZMYM2_uc010tco.1_RNA|ZMYM2_uc001umv.2_Missense_Mutation_p.T257I|ZMYM2_uc001umw.2_Missense_Mutation_p.T330I	p.T877I	NM_003453	NP_003444	Q9UBW7	ZMYM2_HUMAN		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)	17	2928	+		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)	877					A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Missense_Mutation	SNP	ENST00000382874.2	37	c.2630C>T	CCDS45016.1	.	.	.	.	.	.	.	.	.	.	C	5.229	0.227712	0.09916	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382874;ENST00000382871;ENST00000382870	T	0.17528	2.27	5.32	-1.68	0.08212	.	0.401382	0.33144	N	0.005240	T	0.07503	0.0189	N	0.14661	0.345	0.09310	N	0.999994	B	0.02656	0.0	B	0.04013	0.001	T	0.21759	-1.0236	10	0.38643	T	0.18	0.0268	5.9746	0.19371	0.4869:0.2411:0.2721:0.0	.	877	Q9UBW7	ZMYM2_HUMAN	I	877;877;875;875;255	ENSP00000372322:T877I	ENSP00000372322:T877I	T	+	2	0	ZMYM2	19531593	0.998000	0.40836	0.060000	0.19600	0.235000	0.25334	1.184000	0.32053	-0.209000	0.10156	-0.457000	0.05445	ACT		0.338	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2		NM_003453		12	28	0	0	0	0.013537	0	12	28		
PDX1	3651	broad.mit.edu	37	13	28494606	28494606	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:28494606G>A	ENST00000381033.4	+	1	450	c.331G>A	c.(331-333)Gag>Aag	p.E111K	PDX1-AS1_ENST00000499662.2_RNA	NM_000209.3	NP_000200.1	O00330	ODPX_HUMAN	pancreatic and duodenal homeobox 1	0	Lipoyl-binding. {ECO:0000255|PROSITE- ProRule:PRU01066}.				cellular metabolic process (GO:0044237)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	transferase activity, transferring acyl groups (GO:0016746)					all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		CGTCCTGGAGGAGCCCAACCG	0.701																																						uc001urt.2		NaN																	0					0						c.(331-333)GAG>AAG		pancreatic and duodenal homeobox 1							11.0	11.0	11.0					13																	28494606		2172	4232	6404	SO:0001583	missense	3651				detection of glucose|generation of precursor metabolites and energy|insulin secretion|nitric oxide mediated signal transduction|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|type B pancreatic cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity	g.chr13:28494606G>A	AF035260	CCDS9327.1	13q12.1	2012-03-09	2006-12-01	2006-12-01	ENSG00000139515	ENSG00000139515		"""Homeoboxes / ANTP class : HOXL subclass"""	6107	protein-coding gene	gene with protein product	"""somatostatin transcription factor 1"""	600733	"""insulin promoter factor 1, homeodomain transcription factor"""	IPF1		7590740	Standard	NM_000209		Approved	IDX-1, STF-1, PDX-1, MODY4	uc001urt.2	P52945	OTTHUMG00000016638	ENST00000381033.4:c.331G>A	13.37:g.28494606G>A	ENSP00000370421:p.Glu111Lys					uc001urs.1_Intron	p.E111K	NM_000209	NP_000200	P52945	PDX1_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)	1	439	+	all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	111					B4DW62|D3DR11|E9PB14|E9PBP7|O60221|Q96FV8|Q99783	Missense_Mutation	SNP	ENST00000381033.4	37	c.331G>A	CCDS9327.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.924678	0.73213	.	.	ENSG00000139515	ENST00000381033	D	0.90197	-2.63	4.96	4.96	0.65561	.	0.046415	0.85682	D	0.000000	D	0.89392	0.6702	M	0.72118	2.19	0.80722	D	1	P	0.43477	0.808	B	0.36335	0.222	D	0.90391	0.4395	10	0.48119	T	0.1	.	18.1987	0.89831	0.0:0.0:1.0:0.0	.	111	P52945	PDX1_HUMAN	K	111	ENSP00000370421:E111K	ENSP00000370421:E111K	E	+	1	0	PDX1	27392606	1.000000	0.71417	1.000000	0.80357	0.452000	0.32318	8.777000	0.91781	2.299000	0.77371	0.561000	0.74099	GAG		0.701	PDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044310.2		NM_000209		6	6	0	0	0	0.001984	0	6	6		
PDS5B	23047	broad.mit.edu	37	13	33327664	33327664	+	Silent	SNP	A	A	G	rs566704715		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:33327664A>G	ENST00000315596.10	+	25	3117	c.2931A>G	c.(2929-2931)gcA>gcG	p.A977A		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	977					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AGCAGCATGCAGCTGTTAGTG	0.363																																						uc010abf.2		NaN																	0				ovary(2)|lung(1)|pancreas(1)	4						c.(2929-2931)GCA>GCG		PDS5, regulator of cohesion maintenance, homolog							64.0	61.0	62.0					13																	33327664		1867	4106	5973	SO:0001819	synonymous_variant	23047				cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	g.chr13:33327664A>G	AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"""androgen-induced proliferation inhibitor"""	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.2931A>G	13.37:g.33327664A>G						PDS5B_uc010abg.2_RNA	p.A977A	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)	25	3089	+		Lung SC(185;0.0367)	977					Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Silent	SNP	ENST00000315596.10	37	c.2931A>G	CCDS41878.1																																																																																				0.363	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3		NM_015032		3	28	0	0	0	0.004672	0	3	28		
KL	9365	broad.mit.edu	37	13	33635170	33635170	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:33635170G>A	ENST00000380099.3	+	4	1962	c.1954G>A	c.(1954-1956)Gcc>Acc	p.A652T	KL_ENST00000426690.2_3'UTR|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	652	Glycosyl hydrolase-1 2.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GCGCCTCCTGGCCAGGCAGGG	0.627																																						uc001uus.2		NaN																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(1954-1956)GCC>ACC		klotho precursor							48.0	47.0	48.0					13																	33635170		2203	4300	6503	SO:0001583	missense	9365				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	g.chr13:33635170G>A	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.1954G>A	13.37:g.33635170G>A	ENSP00000369442:p.Ala652Thr					KL_uc001uur.1_3'UTR	p.A652T	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)	4	1962	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	652			Glycosyl hydrolase-1 2.|Extracellular (Potential).		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Missense_Mutation	SNP	ENST00000380099.3	37	c.1954G>A	CCDS9347.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.829676	0.32329	.	.	ENSG00000133116	ENST00000380099	T	0.32272	1.46	5.57	4.73	0.59995	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.163737	0.53938	N	0.000054	T	0.30262	0.0759	L	0.55103	1.725	0.44862	D	0.997871	B	0.14012	0.009	B	0.21360	0.034	T	0.05683	-1.0870	10	0.26408	T	0.33	-26.725	13.4851	0.61359	0.0749:0.0:0.9251:0.0	.	652	Q9UEF7	KLOT_HUMAN	T	652	ENSP00000369442:A652T	ENSP00000369442:A652T	A	+	1	0	KL	32533170	1.000000	0.71417	0.991000	0.47740	0.912000	0.54170	4.078000	0.57606	1.378000	0.46305	0.655000	0.94253	GCC		0.627	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1				12	61	0	0	0	0.013537	0	12	61		
SUPT20H	55578	broad.mit.edu	37	13	37603934	37603934	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:37603934C>T	ENST00000350612.6	-	13	1181	c.961G>A	c.(961-963)Gat>Aat	p.D321N	SUPT20H_ENST00000356185.3_Missense_Mutation_p.D322N|SUPT20H_ENST00000542180.1_Intron|SUPT20H_ENST00000475892.1_Missense_Mutation_p.D321N|SUPT20H_ENST00000360252.4_Missense_Mutation_p.D322N|SUPT20H_ENST00000464744.1_Missense_Mutation_p.D322N	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)	321					autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)										TGTGAGTCATCAGATTTGATA	0.348																																						uc001uwg.2		NaN																	0					0						c.(961-963)GAT>AAT		family with sequence similarity 48, member A							135.0	126.0	129.0					13																	37603934		2203	4300	6503	SO:0001583	missense	55578				autophagy|gastrulation	SAGA-type complex	protein binding	g.chr13:37603934C>T	AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710			20596	protein-coding gene	gene with protein product	"""p38 interacting protein"", ""transcription factor (p38 interacting protein)"""	613417	"""chromosome 13 open reading frame 19"", ""family with sequence similarity 48, member A"""	C13orf19, FAM48A		12070015 , 16685401	Standard	NM_001278480		Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000350612.6:c.961G>A	13.37:g.37603934C>T	ENSP00000218894:p.Asp321Asn					FAM48A_uc010abt.2_Missense_Mutation_p.D322N|FAM48A_uc001uwh.2_Missense_Mutation_p.D322N|FAM48A_uc001uwi.2_Missense_Mutation_p.D321N|FAM48A_uc001uwj.2_Missense_Mutation_p.D322N|FAM48A_uc001uwk.2_Missense_Mutation_p.D321N|FAM48A_uc010tes.1_Intron|FAM48A_uc001uwl.1_Missense_Mutation_p.D321N	p.D321N	NM_001014286	NP_001014308	Q8NEM7	FA48A_HUMAN		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)	13	1209	-		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)	321					E7ER46|Q71RF3|Q9Y6A6	Missense_Mutation	SNP	ENST00000350612.6	37	c.961G>A	CCDS31959.1	.	.	.	.	.	.	.	.	.	.	C	35	5.474038	0.96291	.	.	ENSG00000102710	ENST00000360252;ENST00000475892;ENST00000350612;ENST00000356185;ENST00000536874;ENST00000464744	T;T;T;T;T	0.47528	0.84;0.86;1.42;0.84;0.84	5.56	5.56	0.83823	.	0.054794	0.64402	D	0.000001	T	0.68201	0.2975	M	0.76328	2.33	0.80722	D	1	P;B;D;D;D	0.59767	0.638;0.255;0.972;0.983;0.986	B;B;P;P;P	0.62885	0.212;0.155;0.811;0.908;0.843	T	0.67432	-0.5672	10	0.44086	T	0.13	-20.0903	19.5251	0.95201	0.0:1.0:0.0:0.0	.	321;321;322;322;321	B3KNI1;E7ER46;A8K8L1;Q8NEM7-2;Q8NEM7	.;.;.;.;FA48A_HUMAN	N	322;321;321;322;321;322	ENSP00000353388:D322N;ENSP00000417510:D321N;ENSP00000218894:D321N;ENSP00000348512:D322N;ENSP00000419754:D322N	ENSP00000218894:D321N	D	-	1	0	FAM48A	36501934	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.435000	0.66532	2.630000	0.89119	0.650000	0.86243	GAT		0.348	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354766.1		NM_017569		8	46	0	0	0	0.004482	0	8	46		
FREM2	341640	broad.mit.edu	37	13	39262253	39262253	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:39262253G>A	ENST00000280481.7	+	1	988	c.772G>A	c.(772-774)Gct>Act	p.A258T		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	258					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GGACTGCAAAGCTTTCCAGGA	0.642																																						uc001uwv.2		NaN																	0				ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11						c.(772-774)GCT>ACT		FRAS1-related extracellular matrix protein 2							56.0	62.0	60.0					13																	39262253		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39262253G>A	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.772G>A	13.37:g.39262253G>A	ENSP00000280481:p.Ala258Thr						p.A258T	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	1081	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	258			Extracellular (Potential).		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.772G>A	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.842991	0.51057	.	.	ENSG00000150893	ENST00000280481	T	0.19105	2.17	5.81	4.95	0.65309	.	0.055844	0.64402	D	0.000002	T	0.23210	0.0561	L	0.52759	1.655	0.38471	D	0.947466	B	0.18310	0.027	B	0.22601	0.04	T	0.03969	-1.0988	10	0.33141	T	0.24	.	15.8871	0.79258	0.0:0.2556:0.7444:0.0	.	258	Q5SZK8	FREM2_HUMAN	T	258	ENSP00000280481:A258T	ENSP00000280481:A258T	A	+	1	0	FREM2	38160253	1.000000	0.71417	0.811000	0.32455	0.989000	0.77384	6.364000	0.73086	1.419000	0.47118	0.655000	0.94253	GCT		0.642	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2		NM_207361		19	79	0	0	0	0.012319	0	19	79		
NHLRC3	387921	broad.mit.edu	37	13	39621938	39621938	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:39621938C>T	ENST00000379600.3	+	7	1241	c.919C>T	c.(919-921)Caa>Taa	p.Q307*	NHLRC3_ENST00000470258.1_Nonsense_Mutation_p.Q110*|NHLRC3_ENST00000379599.2_Nonsense_Mutation_p.Q240*	NM_001012754.3	NP_001012772.1	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3	307						extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		ACTAGCAGATCAAGTTTTGCC	0.468																																						uc001uxc.2		NaN																	0				skin(1)	1						c.(919-921)CAA>TAA		NHL repeat containing 3 isoform a							88.0	82.0	84.0					13																	39621938		2203	4300	6503	SO:0001587	stop_gained	387921					extracellular region		g.chr13:39621938C>T		CCDS31961.1, CCDS31962.1	13q13.3	2007-12-18			ENSG00000188811	ENSG00000188811			33751	protein-coding gene	gene with protein product							Standard	NM_001017370		Approved		uc001uxc.4	Q5JS37	OTTHUMG00000016765	ENST00000379600.3:c.919C>T	13.37:g.39621938C>T	ENSP00000368920:p.Gln307*					NHLRC3_uc001uxd.2_Nonsense_Mutation_p.Q240*|NHLRC3_uc001uxe.2_Nonsense_Mutation_p.Q110*	p.Q307*	NM_001012754	NP_001012772	Q5JS37	NHLC3_HUMAN		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)	7	1241	+		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)	307			NHL 4.		B2RTZ2|B4DTL0|Q69YI9	Nonsense_Mutation	SNP	ENST00000379600.3	37	c.919C>T	CCDS31961.1	.	.	.	.	.	.	.	.	.	.	C	37	6.534874	0.97646	.	.	ENSG00000188811	ENST00000470258;ENST00000379600;ENST00000379599	.	.	.	5.36	1.27	0.21489	.	0.316491	0.37012	N	0.002293	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.7439	18.1395	0.89634	0.0:0.3101:0.6899:0.0	.	.	.	.	X	110;307;240	.	.	Q	+	1	0	NHLRC3	38519938	1.000000	0.71417	0.593000	0.28771	0.837000	0.47467	4.043000	0.57354	0.297000	0.22615	-0.302000	0.09304	CAA		0.468	NHLRC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044616.2		NM_001012754		18	43	0	0	0	0.012319	0	18	43		
FOXO1	2308	broad.mit.edu	37	13	41134387	41134387	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:41134387A>G	ENST00000379561.5	-	2	1625	c.1241T>C	c.(1240-1242)tTg>tCg	p.L414S	FOXO1_ENST00000473775.1_5'Flank	NM_002015.3	NP_002006.2	Q12778	FOXO1_HUMAN	forkhead box O1	414	Required for interaction with RUNX2. {ECO:0000250}.|Sufficient for interaction with NLK. {ECO:0000250}.				apoptotic process (GO:0006915)|autophagy (GO:0006914)|blood vessel development (GO:0001568)|cellular glucose homeostasis (GO:0001678)|cellular response to cold (GO:0070417)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hyperoxia (GO:0071455)|cellular response to insulin stimulus (GO:0032869)|cellular response to nitric oxide (GO:0071732)|cellular response to oxidative stress (GO:0034599)|cellular response to starvation (GO:0009267)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|fat cell differentiation (GO:0045444)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|regulation of cell proliferation (GO:0042127)|regulation of energy homeostasis (GO:2000505)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|protein phosphatase 2A binding (GO:0051721)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)		PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		GGGTGAATTCAAACTGGTGTT	0.488																																						uc001uxl.3		NaN																PAX3/FOXO1(749)|PAX7/FOXO1(197)	0				soft_tissue(946)|lung(1)|central_nervous_system(1)	948						c.(1240-1242)TTG>TCG		forkhead box O1							144.0	130.0	135.0					13																	41134387		2203	4300	6503	SO:0001583	missense	2308				anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr13:41134387A>G		CCDS9371.1	13q14.1	2011-08-01	2007-05-02	2007-05-02	ENSG00000150907	ENSG00000150907		"""Forkhead boxes"""	3819	protein-coding gene	gene with protein product		136533	"""forkhead homolog in rhabdomyosarcoma"""	FKHR, FOXO1A		8275086, 15057823	Standard	NM_002015		Approved	FKH1	uc001uxl.4	Q12778	OTTHUMG00000016775	ENST00000379561.5:c.1241T>C	13.37:g.41134387A>G	ENSP00000368880:p.Leu414Ser					FOXO1_uc010acc.1_Missense_Mutation_p.L229S	p.L414S	NM_002015	NP_002006	Q12778	FOXO1_HUMAN		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)	2	1626	-		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)	414					O43523|Q5VYC7|Q6NSK6	Missense_Mutation	SNP	ENST00000379561.5	37	c.1241T>C	CCDS9371.1	.	.	.	.	.	.	.	.	.	.	A	16.99	3.275214	0.59649	.	.	ENSG00000150907	ENST00000379561	D	0.94376	-3.41	5.84	5.84	0.93424	.	0.389519	0.27092	N	0.020965	D	0.91758	0.7393	L	0.36672	1.1	0.43642	D	0.99604	P;B	0.49783	0.928;0.017	P;B	0.48270	0.572;0.004	D	0.91477	0.5201	10	0.41790	T	0.15	-11.5845	15.397	0.74805	1.0:0.0:0.0:0.0	.	388;414	F8TAD1;Q12778	.;FOXO1_HUMAN	S	414	ENSP00000368880:L414S	ENSP00000368880:L414S	L	-	2	0	FOXO1	40032387	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	8.730000	0.91510	2.243000	0.73865	0.533000	0.62120	TTG		0.488	FOXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044634.3		NM_002015		22	93	0	0	0	0.005443	0	22	93		
VWA8	23078	broad.mit.edu	37	13	42189117	42189117	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:42189117C>T	ENST00000379310.3	-	38	4783	c.4715G>A	c.(4714-4716)gGa>gAa	p.G1572E		NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1572						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										CCAACCTGTTCCGCCAGCCCA	0.577																																						uc001uyj.2		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6						c.(4714-4716)GGA>GAA		hypothetical protein LOC23078 isoform a							108.0	116.0	114.0					13																	42189117		2029	4203	6232	SO:0001583	missense	23078					extracellular region	ATP binding|ATPase activity	g.chr13:42189117C>T	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.4715G>A	13.37:g.42189117C>T	ENSP00000368612:p.Gly1572Glu						p.G1572E	NM_015058	NP_055873	A3KMH1	K0564_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)	38	4785	-		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)	1572					O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	c.4715G>A	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	C	35	5.430011	0.96131	.	.	ENSG00000102763	ENST00000251030;ENST00000379310	T	0.27104	1.69	6.08	6.08	0.98989	.	0.053135	0.85682	D	0.000000	T	0.58722	0.2142	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.62978	-0.6739	10	0.87932	D	0	.	18.4365	0.90648	0.0:1.0:0.0:0.0	.	1572	A3KMH1	K0564_HUMAN	E	1476;1572	ENSP00000368612:G1572E	ENSP00000251030:G1476E	G	-	2	0	KIAA0564	41087117	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.408000	0.80041	2.894000	0.99253	0.655000	0.94253	GGA		0.577	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2		NM_015058		9	42	0	0	0	0.004482	0	9	42		
DGKH	160851	broad.mit.edu	37	13	42763216	42763216	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:42763216G>A	ENST00000337343.4	+	15	1704	c.1683G>A	c.(1681-1683)ttG>ttA	p.L561L	DGKH_ENST00000261491.5_Silent_p.L561L|DGKH_ENST00000540693.1_Silent_p.L561L|DGKH_ENST00000379274.2_Silent_p.L425L|DGKH_ENST00000538674.1_Silent_p.L316L|DGKH_ENST00000536612.1_Silent_p.L425L|DGKH_ENST00000498255.2_3'UTR	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	561					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		TGCAGGCTTTGCACACAGATT	0.483																																						uc001uyl.1		NaN																	0				ovary(2)	2						c.(1681-1683)TTG>TTA		diacylglycerol kinase, eta isoform 2							64.0	65.0	65.0					13																	42763216		2203	4300	6503	SO:0001819	synonymous_variant	160851				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr13:42763216G>A	AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.1683G>A	13.37:g.42763216G>A						DGKH_uc010tfh.1_Silent_p.L561L|DGKH_uc001uym.1_Silent_p.L561L|DGKH_uc010tfi.1_Silent_p.L316L|DGKH_uc010tfj.1_Silent_p.L416L|DGKH_uc001uyn.1_RNA|DGKH_uc001uyo.1_Silent_p.L416L|DGKH_uc001uyp.2_RNA	p.L561L	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)	15	1704	+		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)	561					A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Silent	SNP	ENST00000337343.4	37	c.1683G>A	CCDS9381.1																																																																																				0.483	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044699.2		NM_178009		8	32	0	0	0	0.006214	0	8	32		
CPB2	1361	broad.mit.edu	37	13	46661885	46661885	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:46661885A>G	ENST00000181383.4	-	2	161	c.145T>C	c.(145-147)Tat>Cat	p.Y49H	CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2_ENST00000439329.3_Missense_Mutation_p.Y49H|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606351.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	49					blood coagulation (GO:0007596)|cellular response to glucose stimulus (GO:0071333)|fibrinolysis (GO:0042730)|liver regeneration (GO:0097421)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of plasminogen activation (GO:0010757)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to heat (GO:0009408)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		ATTACCTCATATGTTGTAGTA	0.373																																						uc001vaw.2		NaN																	0				ovary(1)|skin(1)	2						c.(145-147)TAT>CAT		plasma carboxypeptidase B2 isoform a							84.0	93.0	90.0					13																	46661885		2203	4300	6503	SO:0001583	missense	1361				blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr13:46661885A>G	M75106	CCDS9401.1, CCDS73568.1	13q14.11	2012-02-10	2007-02-21		ENSG00000080618	ENSG00000080618			2300	protein-coding gene	gene with protein product	"""thrombin-activatable fibrinolysis inhibitor"", ""carboxypeptidase U"", ""plasma carboxypeptidase B"", ""carboxypeptidase R"""	603101	"""carboxypeptidase B2 (plasma, carboxypeptidase U)"""			1939207, 1427879	Standard	NM_001278541		Approved	CPU, PCPB, TAFI	uc001vaw.3	Q96IY4	OTTHUMG00000016867	ENST00000181383.4:c.145T>C	13.37:g.46661885A>G	ENSP00000181383:p.Tyr49His					uc001vau.1_Intron|uc001vav.1_Intron|CPB2_uc001vax.2_Missense_Mutation_p.Y49H	p.Y49H	NM_001872	NP_001863	Q96IY4	CBPB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)	2	212	-		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	49					A8K464|Q15114|Q5T9K1|Q5T9K2|Q9P2Y6	Missense_Mutation	SNP	ENST00000181383.4	37	c.145T>C	CCDS9401.1	.	.	.	.	.	.	.	.	.	.	A	1.291	-0.607576	0.03717	.	.	ENSG00000080618	ENST00000181383;ENST00000439329	T;T	0.14022	2.54;2.54	5.78	3.34	0.38264	Proteinase inhibitor, propeptide (1);Proteinase inhibitor, carboxypeptidase propeptide (2);	0.772356	0.12728	N	0.444083	T	0.11367	0.0277	L	0.44542	1.39	0.09310	N	1	B;B	0.21309	0.054;0.019	B;B	0.19666	0.024;0.026	T	0.39057	-0.9632	10	0.18276	T	0.48	.	7.4493	0.27229	0.8284:0.0:0.1715:0.0	.	49;49	Q96IY4-2;Q96IY4	.;CBPB2_HUMAN	H	49	ENSP00000181383:Y49H;ENSP00000400714:Y49H	ENSP00000181383:Y49H	Y	-	1	0	CPB2	45559886	0.008000	0.16893	0.002000	0.10522	0.288000	0.27193	1.184000	0.32053	0.450000	0.26774	0.460000	0.39030	TAT		0.373	CPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044803.2		NM_001872		42	56	0	0	0	0.01441	0	42	56		
SETDB2	83852	broad.mit.edu	37	13	50050956	50050956	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:50050956A>T	ENST00000317257.8	+	7	1511	c.686A>T	c.(685-687)cAg>cTg	p.Q229L	SETDB2_ENST00000258672.5_Missense_Mutation_p.Q217L|SETDB2_ENST00000354234.4_Missense_Mutation_p.Q217L	NM_031915.2	NP_114121.2	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	229	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.				chromosome segregation (GO:0007059)|heart looping (GO:0001947)|histone H3-K9 methylation (GO:0051567)|left/right axis specification (GO:0070986)|mitotic nuclear division (GO:0007067)|negative regulation of transcription, DNA-templated (GO:0045892)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		ACCTATGTTCAGTTGGCTCGG	0.378																																						uc001vcz.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(685-687)CAG>CTG		SET domain, bifurcated 2 isoform a							118.0	118.0	118.0					13																	50050956		2203	4300	6503	SO:0001583	missense	83852				cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding	g.chr13:50050956A>T	AF334407	CCDS9417.1, CCDS53868.1	13q14	2011-07-01	2003-05-06	2003-05-09	ENSG00000136169	ENSG00000136169		"""Chromatin-modifying enzymes / K-methyltransferases"""	20263	protein-coding gene	gene with protein product		607865	"""chromosome 13 open reading frame 4"""	C13orf4		11306461	Standard	NM_031915		Approved	CLLD8, CLLL8, KMT1F	uc001vda.3	Q96T68	OTTHUMG00000016918	ENST00000317257.8:c.686A>T	13.37:g.50050956A>T	ENSP00000326477:p.Gln229Leu					SETDB2_uc010adg.2_Missense_Mutation_p.Q205L|SETDB2_uc001vcy.3_Missense_Mutation_p.Q217L|SETDB2_uc010adh.2_Missense_Mutation_p.Q217L|SETDB2_uc001vda.2_Missense_Mutation_p.Q217L	p.Q229L	NM_031915	NP_114121	Q96T68	SETB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)	7	1592	+		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	229			MBD.		Q5TC65|Q5TC66|Q5W0A7|Q659A7|Q86UD6|Q96AI6	Missense_Mutation	SNP	ENST00000317257.8	37	c.686A>T	CCDS9417.1	.	.	.	.	.	.	.	.	.	.	A	4.493	0.091370	0.08632	.	.	ENSG00000136169	ENST00000354234;ENST00000317257;ENST00000258672	D;D;D	0.88509	-2.39;-2.39;-2.39	5.96	5.96	0.96718	Methyl-CpG DNA binding (2);DNA-binding, integrase-type (1);	0.230807	0.48286	D	0.000185	T	0.79064	0.4383	N	0.17082	0.46	0.46542	D	0.999092	P;P;P	0.41978	0.487;0.725;0.767	B;B;B	0.37692	0.203;0.166;0.256	T	0.77983	-0.2382	10	0.21014	T	0.42	.	12.136	0.53972	0.8647:0.0:0.0:0.1353	.	229;217;229	Q96T68-3;Q96T68-2;Q96T68	.;.;SETB2_HUMAN	L	217;229;217	ENSP00000346175:Q217L;ENSP00000326477:Q229L;ENSP00000258672:Q217L	ENSP00000258672:Q217L	Q	+	2	0	SETDB2	48948957	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.054000	0.57434	2.285000	0.76669	0.533000	0.62120	CAG		0.378	SETDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044925.1		NM_031915		34	49	0	0	0	0.013726	0	34	49		
CKAP2	26586	broad.mit.edu	37	13	53035696	53035696	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:53035696A>G	ENST00000378037.5	+	4	828	c.738A>G	c.(736-738)acA>acG	p.T246T	CKAP2_ENST00000490903.1_Silent_p.T197T|CKAP2_ENST00000258607.5_Silent_p.T245T|CKAP2_ENST00000378034.3_Silent_p.T245T	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3			cytoskeleton associated protein 2											breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		TGAGCACTACATCTCAGAACA	0.423																																						uc001vgv.2		NaN																	0				ovary(1)|skin(1)	2						c.(736-738)ACA>ACG		cytoskeleton associated protein 2 isoform 2							111.0	101.0	104.0					13																	53035696		2203	4300	6503	SO:0001819	synonymous_variant	26586				apoptosis|cell cycle	centrosome|microtubule|spindle pole		g.chr13:53035696A>G	AF177227	CCDS9435.1, CCDS41893.1, CCDS66557.1, CCDS73578.1	13q14	2014-03-21			ENSG00000136108	ENSG00000136108			1990	protein-coding gene	gene with protein product		611569				9771967	Standard	XM_005266343		Approved	LB1, FLJ10749, se20-10, TMAP	uc001vgv.2	Q8WWK9	OTTHUMG00000016967	ENST00000378037.5:c.738A>G	13.37:g.53035696A>G						CKAP2_uc001vgt.2_Silent_p.T245T|CKAP2_uc001vgu.2_Silent_p.T245T|CKAP2_uc010tha.1_Silent_p.T197T	p.T246T	NM_001098525	NP_001091995	Q8WWK9	CKAP2_HUMAN		GBM - Glioblastoma multiforme(99;2.6e-08)	4	935	+		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	246						Silent	SNP	ENST00000378037.5	37	c.738A>G	CCDS41893.1																																																																																				0.423	CKAP2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355010.2				9	30	0	0	0	0.010729	0	9	30		
MYCBP2	23077	broad.mit.edu	37	13	77669735	77669735	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:77669735G>A	ENST00000544440.2	-	58	9860	c.9843C>T	c.(9841-9843)gtC>gtT	p.V3281V	MYCBP2_ENST00000357337.6_Silent_p.V3281V|MYCBP2_ENST00000407578.2_Silent_p.V3319V|MYCBP2_ENST00000482517.1_5'Flank|MYCBP2-AS1_ENST00000593933.1_RNA					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TAGATTGTTTGACCTGGCGAA	0.373																																						uc001vkf.2		NaN																	0				ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(9841-9843)GTC>GTT		MYC binding protein 2							88.0	90.0	89.0					13																	77669735		2203	4300	6503	SO:0001819	synonymous_variant	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77669735G>A	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.9843C>T	13.37:g.77669735G>A						MYCBP2_uc010aev.2_Silent_p.V2685V|MYCBP2_uc001vke.2_5'Flank	p.V3281V	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	59	9934	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	3281						Silent	SNP	ENST00000544440.2	37	c.9843C>T																																																																																					0.373	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1		NM_015057		24	33	0	0	0	0.004656	0	24	33		
MYCBP2	23077	broad.mit.edu	37	13	77852999	77852999	+	Silent	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:77852999T>C	ENST00000544440.2	-	4	545	c.528A>G	c.(526-528)acA>acG	p.T176T	MYCBP2_ENST00000357337.6_Silent_p.T176T|MYCBP2_ENST00000407578.2_Silent_p.T214T|MYCBP2_ENST00000360084.5_5'UTR					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GAGAAAATCGTGTCTCTTTGA	0.438																																						uc001vkf.2		NaN																	0				ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(526-528)ACA>ACG		MYC binding protein 2							48.0	49.0	49.0					13																	77852999		2203	4300	6503	SO:0001819	synonymous_variant	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77852999T>C	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.528A>G	13.37:g.77852999T>C						MYCBP2_uc010aev.2_5'UTR	p.T176T	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	5	619	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	176						Silent	SNP	ENST00000544440.2	37	c.528A>G																																																																																					0.438	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1		NM_015057		16	29	0	0	0	0.006122	0	16	29		
RAP2A	5911	broad.mit.edu	37	13	98086808	98086808	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:98086808C>T	ENST00000245304.4	+	1	333	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_021033.6	NP_066361.1	P10114	RAP2A_HUMAN	RAP2A, member of RAS oncogene family	28					actin cytoskeleton reorganization (GO:0031532)|cellular protein localization (GO:0034613)|establishment of protein localization (GO:0045184)|negative regulation of cell migration (GO:0030336)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of dendrite morphogenesis (GO:0048814)|regulation of JNK cascade (GO:0046328)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|recycling endosome (GO:0055037)|recycling endosome membrane (GO:0055038)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.166)			CCGGCACCTTCATCGAGAAAT	0.647																																						uc001vnd.2		NaN																	0				central_nervous_system(1)	1						c.(82-84)TTC>TTT		RAP2A, member of RAS oncogene family precursor							98.0	92.0	94.0					13																	98086808		2203	4300	6503	SO:0001819	synonymous_variant	5911				actin cytoskeleton reorganization|cellular protein localization|establishment of protein localization|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of dendrite morphogenesis|regulation of JNK cascade	recycling endosome membrane	GTP binding|GTPase activity|protein binding	g.chr13:98086808C>T	AF205602	CCDS9485.1	13q34	2014-05-09			ENSG00000125249	ENSG00000125249			9861	protein-coding gene	gene with protein product		179540		RAP2			Standard	NM_021033		Approved	K-REV	uc001vnd.3	P10114	OTTHUMG00000017240	ENST00000245304.4:c.84C>T	13.37:g.98086808C>T							p.F28F	NM_021033	NP_066361	P10114	RAP2A_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.166)		1	334	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		28					B2RCJ1|Q5JSC1|Q5JSC2	Silent	SNP	ENST00000245304.4	37	c.84C>T	CCDS9485.1																																																																																				0.647	RAP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045528.4				33	105	0	0	0	0.013726	0	33	105		
FARP1	10160	broad.mit.edu	37	13	99083317	99083317	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:99083317G>A	ENST00000319562.6	+	18	2191	c.1926G>A	c.(1924-1926)tgG>tgA	p.W642*	FARP1_ENST00000595437.1_Nonsense_Mutation_p.W642*|FARP1_ENST00000376586.2_Nonsense_Mutation_p.W642*	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	642	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.W642*(1)		breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CTCACCTGTGGAAGCACAGCG	0.577																																						uc001vnj.2		NaN																	1	Substitution - Nonsense(1)		skin(1)	breast(2)	2						c.(1924-1926)TGG>TGA		FERM, RhoGEF, and pleckstrin domain protein 1							48.0	53.0	51.0					13																	99083317		2203	4300	6503	SO:0001587	stop_gained	10160				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:99083317G>A	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.1926G>A	13.37:g.99083317G>A	ENSP00000322926:p.Trp642*					FARP1_uc001vnh.2_Nonsense_Mutation_p.W642*	p.W642*	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		18	2262	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		642			DH.		Q5JVI9|Q6IQ29	Nonsense_Mutation	SNP	ENST00000319562.6	37	c.1926G>A	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	G	43	9.877096	0.99285	.	.	ENSG00000152767	ENST00000376586;ENST00000319562	.	.	.	5.42	5.42	0.78866	.	0.348813	0.31347	N	0.007804	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	14.775	0.69724	0.0715:0.0:0.9285:0.0	.	.	.	.	X	642	.	ENSP00000322926:W642X	W	+	3	0	FARP1	97881318	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.850000	0.62889	2.693000	0.91896	0.650000	0.86243	TGG		0.577	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3		NM_005766		11	46	0	0	0	0.010729	0	11	46		
CUL4A	8451	broad.mit.edu	37	13	113893835	113893835	+	Silent	SNP	G	G	T	rs138821614	byFrequency	TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:113893835G>T	ENST00000375440.4	+	10	1089	c.1005G>T	c.(1003-1005)gcG>gcT	p.A335A	CUL4A_ENST00000451881.1_Silent_p.A235A|CUL4A_ENST00000326335.4_Silent_p.A235A|CUL4A_ENST00000375441.3_Silent_p.A235A	NM_001008895.1	NP_001008895.1	Q13619	CUL4A_HUMAN	cullin 4A	335					cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|regulation of nucleotide-excision repair (GO:2000819)|regulation of protein metabolic process (GO:0051246)|somatic stem cell maintenance (GO:0035019)|viral process (GO:0016032)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			GGCAGCAGGCGCTGCTGCAGC	0.637																																						uc010tjy.1		NaN																	0				central_nervous_system(2)|skin(1)	3						c.(1003-1005)GCG>GCT		cullin 4A isoform 1							57.0	57.0	57.0					13																	113893835		2203	4300	6503	SO:0001819	synonymous_variant	8451				cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr13:113893835G>T	U58090	CCDS9533.1, CCDS41908.1, CCDS73604.1	13q34	2011-05-24			ENSG00000139842	ENSG00000139842			2554	protein-coding gene	gene with protein product		603137				8681378	Standard	NM_001008895		Approved		uc021rmv.1	Q13619	OTTHUMG00000017384	ENST00000375440.4:c.1005G>T	13.37:g.113893835G>T						CUL4A_uc010tjx.1_Silent_p.A235A|CUL4A_uc010agu.2_Silent_p.A196A|CUL4A_uc010tjz.1_Silent_p.A14A	p.A335A	NM_001008895	NP_001008895	Q13619	CUL4A_HUMAN	all cancers(43;0.112)		11	1016	+	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	335					A2A2W2|O75834|Q589T6|Q5TC62|Q6UP08|Q9UP17	Silent	SNP	ENST00000375440.4	37	c.1005G>T	CCDS41908.1																																																																																				0.637	CUL4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045888.3		NM_003589		20	74	1	0	1.96895e-08	0.00278	2.07232e-08	20	74		
POTEG	404785	broad.mit.edu	37	14	19566047	19566047	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:19566047A>G	ENST00000409832.3	+	6	1143	c.1091A>G	c.(1090-1092)cAg>cGg	p.Q364R	CTD-2311B13.5_ENST00000548748.1_lincRNA|RNU6-1239P_ENST00000391310.1_RNA	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	364										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AAAGAAAAACAGATGCTAAAA	0.313																																						uc001vuz.1		NaN																	0				ovary(1)	1						c.(1090-1092)CAG>CGG		POTE ankyrin domain family, member G							81.0	95.0	90.0					14																	19566047		1508	2696	4204	SO:0001583	missense	404785							g.chr14:19566047A>G		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.1091A>G	14.37:g.19566047A>G	ENSP00000386971:p.Gln364Arg					POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA|uc001vvb.2_Intron	p.Q364R	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN			6	1143	+			364					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	c.1091A>G	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	a	1.663	-0.510897	0.04231	.	.	ENSG00000222036	ENST00000409832	T	0.28255	1.62	1.61	-3.22	0.05125	Ankyrin repeat-containing domain (1);	.	.	.	.	T	0.16896	0.0406	N	0.02973	-0.45	0.09310	N	1	D	0.60160	0.987	D	0.63192	0.912	T	0.03910	-1.0993	9	0.09084	T	0.74	.	2.1966	0.03913	0.3705:0.0:0.1848:0.4448	.	364	Q6S5H5	POTEG_HUMAN	R	364	ENSP00000386971:Q364R	ENSP00000386971:Q364R	Q	+	2	0	POTEG	18636047	0.003000	0.15002	0.001000	0.08648	0.029000	0.11900	-0.428000	0.06991	-1.457000	0.01919	-1.194000	0.01681	CAG		0.313	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1		NM_001005356		10	135	0	0	0	0.013537	0	10	135		
TEP1	7011	broad.mit.edu	37	14	20871547	20871547	+	Missense_Mutation	SNP	C	C	G	rs571269554	byFrequency	TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:20871547C>G	ENST00000262715.5	-	7	1295	c.1255G>C	c.(1255-1257)Gag>Cag	p.E419Q	TEP1_ENST00000556935.1_Missense_Mutation_p.E311Q	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	419	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TTTCTCTGCTCTTCTCTGAGA	0.408																																						uc001vxe.2		NaN																	0				ovary(5)	5						c.(1255-1257)GAG>CAG		telomerase-associated protein 1							176.0	173.0	174.0					14																	20871547		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20871547C>G		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.1255G>C	14.37:g.20871547C>G	ENSP00000262715:p.Glu419Gln					TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.E311Q	p.E419Q	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	7	1295	-	all_cancers(95;0.00123)	all_lung(585;0.235)	419			TROVE.		A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.1255G>C	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.362283	0.41902	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.15603	2.41;2.41	4.8	1.92	0.25849	TROVE (2);	0.692802	0.13865	N	0.357436	T	0.16128	0.0388	M	0.62723	1.935	0.09310	N	0.999996	B;B	0.20550	0.037;0.046	B;B	0.23419	0.027;0.046	T	0.30650	-0.9971	10	0.24483	T	0.36	-2.3363	5.4875	0.16757	0.0:0.6471:0.1653:0.1876	.	311;419	G3V5X7;Q99973	.;TEP1_HUMAN	Q	419;419;311	ENSP00000262715:E419Q;ENSP00000452574:E311Q	ENSP00000262715:E419Q	E	-	1	0	TEP1	19941387	0.006000	0.16342	0.027000	0.17364	0.002000	0.02628	0.116000	0.15561	0.285000	0.22329	-0.300000	0.09419	GAG		0.408	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2		NM_007110		65	97	0	0	0	0.01441	0	65	97		
AJUBA	84962	broad.mit.edu	37	14	23451348	23451348	+	Missense_Mutation	SNP	C	C	T	rs375437444		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:23451348C>T	ENST00000262713.2	-	1	503	c.128G>A	c.(127-129)gGa>gAa	p.G43E	RP11-298I3.4_ENST00000557615.1_RNA|AJUBA_ENST00000361265.4_Missense_Mutation_p.G43E|RP11-298I3.4_ENST00000556503.1_RNA|RP11-298I3.5_ENST00000555074.1_Intron|RP11-298I3.4_ENST00000555294.1_RNA	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	43	PreLIM.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										CTTCCTAGGTCCCCCCAACCC	0.677																																						uc001whz.2		NaN																	0					0						c.(127-129)GGA>GAA		ajuba isoform 1							25.0	30.0	28.0					14																	23451348		2202	4300	6502	SO:0001583	missense	84962				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding	g.chr14:23451348C>T	AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"""jub, ajuba homolog (Xenopus laevis)"""	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.128G>A	14.37:g.23451348C>T	ENSP00000262713:p.Gly43Glu						p.G43E	NM_032876	NP_116265	Q96IF1	JUB_HUMAN		GBM - Glioblastoma multiforme(265;0.0122)	1	504	-	all_cancers(95;4.6e-05)		43			PreLIM.		A8MX18|D3DS37	Missense_Mutation	SNP	ENST00000262713.2	37	c.128G>A	CCDS9581.1	.	.	.	.	.	.	.	.	.	.	c	16.54	3.152926	0.57259	.	.	ENSG00000129474	ENST00000262713;ENST00000361265	T;T	0.56103	0.48;0.48	5.2	-4.08	0.03963	.	5.409370	0.00649	N	0.000550	T	0.34164	0.0888	N	0.14661	0.345	0.21675	N	0.999596	B	0.02656	0.0	B	0.01281	0.0	T	0.27971	-1.0058	10	0.59425	D	0.04	.	6.2438	0.20805	0.2035:0.2198:0.5037:0.073	.	43	Q96IF1	JUB_HUMAN	E	43	ENSP00000262713:G43E;ENSP00000354491:G43E	ENSP00000262713:G43E	G	-	2	0	JUB	22521188	0.000000	0.05858	0.231000	0.23993	0.983000	0.72400	-1.271000	0.02828	-1.093000	0.03058	-0.275000	0.10095	GGA		0.677	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2				11	42	0	0	0	0.010729	0	11	42		
DHRS4L2	317749	broad.mit.edu	37	14	24470602	24470602	+	Missense_Mutation	SNP	C	C	T	rs551390746		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:24470602C>T	ENST00000335125.6	+	6	667	c.541C>T	c.(541-543)Cct>Tct	p.P181S	DHRS4L2_ENST00000397071.1_Intron|DHRS4L2_ENST00000545240.1_Intron|DHRS4L2_ENST00000558753.1_Missense_Mutation_p.P106S|DHRS4L2_ENST00000543805.1_Intron|DHRS4L2_ENST00000534993.1_Intron|DHRS4L2_ENST00000382755.4_Missense_Mutation_p.P179S|DHRS4L2_ENST00000537912.1_Missense_Mutation_p.P106S	NM_198083.3	NP_932349.2	Q6PKH6	DR4L2_HUMAN	dehydrogenase/reductase (SDR family) member 4 like 2	179						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10				GBM - Glioblastoma multiforme(265;0.00962)		GGGCTTCAGTCCTTACAATGT	0.478													c|||	1	0.000199681	0.0	0.0	5008	,	,		21728	0.001		0.0	False		,,,				2504	0.0					uc001wli.3		NaN																	0				ovary(1)	1						c.(541-543)CCT>TCT		dehydrogenase/reductase (SDR family) member 4							96.0	116.0	109.0					14																	24470602		2142	4300	6442	SO:0001583	missense	317749						binding|oxidoreductase activity	g.chr14:24470602C>T		CCDS9606.2, CCDS73621.1	14q11.2	2011-09-14			ENSG00000187630	ENSG00000187630	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	19731	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 3"""	615196					Standard	NM_001193635		Approved	SDR25C3	uc001wlf.3	Q6PKH6	OTTHUMG00000028778	ENST00000335125.6:c.541C>T	14.37:g.24470602C>T	ENSP00000334801:p.Pro181Ser					DHRS4_uc001wlc.3_Intron|DHRS4L2_uc001wld.3_Intron|DHRS4L2_uc001wle.3_Intron|DHRS4L2_uc001wlg.3_Intron|DHRS4L2_uc001wlh.3_Intron|DHRS4L2_uc010tnt.1_Missense_Mutation_p.P104S|DHRS4L2_uc010alb.2_Missense_Mutation_p.P55S	p.P181S	NM_198083	NP_932349	D5KJA1	D5KJA1_HUMAN		GBM - Glioblastoma multiforme(265;0.00962)	6	671	+			119					Q3YLD4	Missense_Mutation	SNP	ENST00000335125.6	37	c.541C>T	CCDS9606.2	.	.	.	.	.	.	.	.	.	.	-	7.209	0.595021	0.13875	.	.	ENSG00000187630	ENST00000348916;ENST00000335125;ENST00000537912;ENST00000382755	D;T;D	0.86562	-2.14;0.72;-2.14	2.85	0.773	0.18516	Short-chain dehydrogenase/reductase, conserved site (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.84911	0.5577	N	0.16833	0.445	0.80722	D	1	D;B;P	0.71674	0.998;0.116;0.751	D;B;B	0.68943	0.961;0.108;0.386	T	0.81470	-0.0918	10	0.44086	T	0.13	.	10.0335	0.42114	0.0:0.6029:0.3971:0.0	.	106;179;179	F6TD35;D3YTE6;Q6PKH6	.;.;DR4L2_HUMAN	S	119;181;106;179	ENSP00000334801:P181S;ENSP00000439942:P106S;ENSP00000372203:P179S	ENSP00000334801:P181S	P	+	1	0	DHRS4L2	23540442	0.983000	0.35010	0.114000	0.21550	0.107000	0.19398	2.110000	0.41873	0.052000	0.16007	0.194000	0.17425	CCT		0.478	DHRS4L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000071858.4				25	88	0	0	0	0.009535	0	25	88		
NRL	4901	broad.mit.edu	37	14	24551781	24551781	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:24551781C>T	ENST00000561028.1	-	2	596	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K	NRL_ENST00000560550.1_5'Flank|NRL_ENST00000397002.2_Missense_Mutation_p.E93K|NRL_ENST00000396995.1_5'Flank|NRL_ENST00000396997.1_Missense_Mutation_p.E93K			P54845	NRL_HUMAN	neural retina leucine zipper	93	Minimal transactivation domain (MTD).				positive regulation of rhodopsin gene expression (GO:0045872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of rhodopsin gene expression (GO:0007468)|response to stimulus (GO:0050896)|retinal rod cell development (GO:0046548)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(2)	2				GBM - Glioblastoma multiforme(265;0.0181)		ATGGCCTCTTCAGGACTCAGC	0.682																																						uc001wlo.2		NaN																	0					0						c.(277-279)GAA>AAA		neural retina leucine zipper							28.0	30.0	30.0					14																	24551781		2202	4298	6500	SO:0001583	missense	4901				response to stimulus|transcription from RNA polymerase II promoter|visual perception	nucleus	leucine zipper domain binding|sequence-specific DNA binding	g.chr14:24551781C>T		CCDS9608.1	14q11.1-q11.2	2013-01-08			ENSG00000129535	ENSG00000129535			8002	protein-coding gene	gene with protein product		162080				1427865, 10192380	Standard	NM_006177		Approved	D14S46E, RP27, NRL-MAF	uc021rrk.1	P54845	OTTHUMG00000028789	ENST00000561028.1:c.277G>A	14.37:g.24551781C>T	ENSP00000454062:p.Glu93Lys					NRL_uc001wlp.2_Missense_Mutation_p.E93K|NRL_uc001wlq.2_Missense_Mutation_p.E93K	p.E93K	NM_006177	NP_006168	P54845	NRL_HUMAN		GBM - Glioblastoma multiforme(265;0.0181)	2	408	-			93					A8MX14|Q53XD0	Missense_Mutation	SNP	ENST00000561028.1	37	c.277G>A	CCDS9608.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.342706	0.82022	.	.	ENSG00000129535	ENST00000397002;ENST00000396997	D;D	0.95656	-3.77;-3.77	5.19	5.19	0.71726	Maf transcription factor, N-terminal (1);	0.172360	0.36374	N	0.002639	D	0.94584	0.8255	L	0.57536	1.79	0.80722	D	1	B	0.28713	0.22	B	0.34824	0.19	D	0.93552	0.6887	10	0.66056	D	0.02	-10.307	16.2622	0.82552	0.0:1.0:0.0:0.0	.	93	P54845	NRL_HUMAN	K	93	ENSP00000380197:E93K;ENSP00000380193:E93K	ENSP00000337023:E93K	E	-	1	0	NRL	23621621	1.000000	0.71417	0.986000	0.45419	0.955000	0.61496	5.442000	0.66575	2.695000	0.91970	0.655000	0.94253	GAA		0.682	NRL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415595.1				12	37	0	0	0	0.010729	0	12	37		
LTB4R2	56413	broad.mit.edu	37	14	24780363	24780363	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:24780363G>A	ENST00000528054.1	+	1	2203	c.586G>A	c.(586-588)Gac>Aac	p.D196N	LTB4R_ENST00000345363.3_5'Flank|CIDEB_ENST00000336557.5_5'UTR|LTB4R_ENST00000396789.4_5'Flank|CIDEB_ENST00000258807.5_5'UTR|CIDEB_ENST00000554411.1_5'Flank|LTB4R2_ENST00000533293.1_Missense_Mutation_p.D165N|LTB4R2_ENST00000543919.1_Missense_Mutation_p.D165N|CIDEB_ENST00000555817.1_Intron			Q9NPC1	LT4R2_HUMAN	leukotriene B4 receptor 2	196					chemotaxis (GO:0006935)|keratinocyte migration (GO:0051546)|negative regulation of adenylate cyclase activity (GO:0007194)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	leukotriene B4 receptor activity (GO:0001632)|leukotriene receptor activity (GO:0004974)			endometrium(1)|lung(1)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.018)		CCTGTGGAGGGACCGCGTATG	0.731																																						uc001woq.1		NaN																	0					0						c.(586-588)GAC>AAC		leukotriene B4 receptor 2							17.0	16.0	16.0					14																	24780363		2173	4250	6423	SO:0001583	missense	56413				chemotaxis|negative regulation of adenylate cyclase activity	integral to plasma membrane		g.chr14:24780363G>A	AB008193	CCDS9625.1, CCDS9625.2	14q12	2014-04-11			ENSG00000213906	ENSG00000213906		"""GPCR / Class A : Leukotriene receptors"""	19260	protein-coding gene	gene with protein product		605773				11006272, 10934229	Standard	NM_001164692		Approved	BLTR2, BLT2, JULF2, NOP9	uc001wor.3	Q9NPC1	OTTHUMG00000186500	ENST00000528054.1:c.586G>A	14.37:g.24780363G>A	ENSP00000432146:p.Asp196Asn					CIDEB_uc001woo.2_5'UTR|CIDEB_uc001wop.2_5'UTR|LTB4R2_uc010alo.2_Missense_Mutation_p.D165N|LTB4R2_uc001wor.2_Missense_Mutation_p.D165N|LTB4R_uc001wos.2_5'Flank|LTB4R_uc010alp.2_5'Flank	p.D196N	NM_019839	NP_062813	Q9NPC1	LT4R2_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	1	2203	+			196			Extracellular (Potential).		Q5KU28|Q9NPE5	Missense_Mutation	SNP	ENST00000528054.1	37	c.586G>A		.	.	.	.	.	.	.	.	.	.	G	13.23	2.174980	0.38413	.	.	ENSG00000213906	ENST00000528054;ENST00000533293;ENST00000543919;ENST00000530080	T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58	4.88	4.88	0.63580	GPCR, rhodopsin-like superfamily (1);	1.111770	0.06947	U	0.813820	T	0.56093	0.1962	N	0.05414	-0.055	0.09310	N	1	B	0.26708	0.157	B	0.31191	0.125	T	0.33727	-0.9857	10	0.14656	T	0.56	.	15.5182	0.75842	0.0:0.0:1.0:0.0	.	196	Q9NPC1	LT4R2_HUMAN	N	196;165;165;165	ENSP00000432146:D196N;ENSP00000433290:D165N;ENSP00000445772:D165N;ENSP00000434760:D165N	ENSP00000337731:D196N	D	+	1	0	LTB4R2	23850203	0.000000	0.05858	0.016000	0.15963	0.872000	0.50106	-0.103000	0.10940	2.268000	0.75426	0.561000	0.74099	GAC		0.731	LTB4R2-001	KNOWN	basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000073194.4				6	15	0	0	0	0.001984	0	6	15		
PRKD1	5587	broad.mit.edu	37	14	30046445	30046445	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:30046445C>T	ENST00000331968.5	-	18	2967	c.2738G>A	c.(2737-2739)tGa>tAa	p.*913*	PRKD1_ENST00000415220.2_Silent_p.*921*	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	0					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		AGATGGAACTCAGAGGATGCT	0.443																																						uc001wqh.2		NaN																	0				lung(3)|large_intestine(2)|ovary(2)|skin(1)	8						c.(2737-2739)TGA>TAA		protein kinase D1							97.0	85.0	89.0					14																	30046445		2203	4300	6503	SO:0001819	synonymous_variant	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30046445C>T		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2738G>A	14.37:g.30046445C>T							p.*913*	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	18	2919	-	Hepatocellular(127;0.0604)		913					A6NL64|B2RAF6	Silent	SNP	ENST00000331968.5	37	c.2738G>A	CCDS9637.1																																																																																				0.443	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2		NM_002742		19	46	0	0	0	0.010504	0	19	46		
STRN3	29966	broad.mit.edu	37	14	31416386	31416386	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:31416386G>A	ENST00000357479.5	-	5	822	c.626C>T	c.(625-627)tCa>tTa	p.S209L	STRN3_ENST00000355683.5_Missense_Mutation_p.S209L	NM_001083893.1	NP_001077362.1	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	209					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		ATTTGGTTCTGAATTAGATAG	0.348																																						uc001wqu.2		NaN																	0					0						c.(625-627)TCA>TTA		nuclear autoantigen isoform 1							155.0	147.0	150.0					14																	31416386		2203	4300	6503	SO:0001583	missense	29966				negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity	g.chr14:31416386G>A		CCDS9641.1, CCDS41938.1	14q13-q21	2013-01-10			ENSG00000196792	ENSG00000196792		"""WD repeat domain containing"""	15720	protein-coding gene	gene with protein product	"""cell cycle S/G2 nuclear autoantigen"""	614766				7864889, 10681496	Standard	NM_014574		Approved	SG2NA	uc001wqu.2	Q13033	OTTHUMG00000140201	ENST00000357479.5:c.626C>T	14.37:g.31416386G>A	ENSP00000350071:p.Ser209Leu					STRN3_uc001wqv.2_Missense_Mutation_p.S209L|STRN3_uc010tpj.1_RNA	p.S209L	NM_001083893	NP_001077362	Q13033	STRN3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)	5	842	-	Hepatocellular(127;0.0877)|Breast(36;0.148)		209					A2RTX7|A6NHZ7|Q9NRA5	Missense_Mutation	SNP	ENST00000357479.5	37	c.626C>T	CCDS41938.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.064504	0.55432	.	.	ENSG00000196792	ENST00000355683;ENST00000357479;ENST00000555152	D;D	0.86769	-2.17;-2.17	5.9	5.9	0.94986	.	0.056471	0.64402	D	0.000001	D	0.82462	0.5042	L	0.32530	0.975	0.58432	D	0.999998	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.002	T	0.75326	-0.3357	10	0.20519	T	0.43	-10.5348	20.2704	0.98474	0.0:0.0:1.0:0.0	.	209;209	Q13033-2;Q13033	.;STRN3_HUMAN	L	209;209;90	ENSP00000347909:S209L;ENSP00000350071:S209L	ENSP00000347909:S209L	S	-	2	0	STRN3	30486137	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.309000	0.78937	2.793000	0.96121	0.591000	0.81541	TCA		0.348	STRN3-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409713.1		NM_014574		25	62	0	0	0	0.005443	0	25	62		
NKX2-8	26257	broad.mit.edu	37	14	37050400	37050400	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:37050400G>A	ENST00000258829.5	-	2	644	c.427C>T	c.(427-429)Cgc>Tgc	p.R143C		NM_014360.2	NP_055175.2	O15522	NKX28_HUMAN	NK2 homeobox 8	143					axonogenesis (GO:0007409)|liver development (GO:0001889)|lung development (GO:0030324)|negative regulation of epithelial cell proliferation (GO:0050680)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			upper_aerodigestive_tract(1)	1	Breast(36;0.143)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.0113)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0171)		CCTGGAGCGCGAGCGCGCTTC	0.701																																						uc001wtx.2		NaN																	0					0						c.(427-429)CGC>TGC		NK2 homeobox 8							11.0	11.0	11.0					14																	37050400		2193	4292	6485	SO:0001583	missense	26257				liver development|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:37050400G>A		CCDS9660.1	14q13.3	2012-03-09	2007-07-09	2002-10-04	ENSG00000136327	ENSG00000136327		"""Homeoboxes / ANTP class : NKL subclass"""	16364	protein-coding gene	gene with protein product		603245	"""NK-2 homolog H (Drosophila)"", ""NK2 transcription factor related, locus 8 (Drosophila)"""	NKX2H		9446603	Standard	NM_014360		Approved	NKX2.8, Nkx2-9	uc001wtx.3	O15522	OTTHUMG00000028772	ENST00000258829.5:c.427C>T	14.37:g.37050400G>A	ENSP00000258829:p.Arg143Cys						p.R143C	NM_014360	NP_055175	O15522	NKX28_HUMAN	Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.0113)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0171)	2	619	-	Breast(36;0.143)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		143			Homeobox.		Q8IUT7	Missense_Mutation	SNP	ENST00000258829.5	37	c.427C>T	CCDS9660.1	.	.	.	.	.	.	.	.	.	.	G	35	5.479161	0.96307	.	.	ENSG00000136327	ENST00000258829	D	0.91295	-2.82	4.22	4.22	0.49857	Homeobox (1);Homeodomain-like (1);	0.483471	0.21366	N	0.075716	D	0.90055	0.6894	L	0.51422	1.61	0.80722	D	1	D	0.64830	0.994	P	0.47981	0.563	D	0.91600	0.5294	10	0.87932	D	0	.	15.7431	0.77918	0.0:0.0:1.0:0.0	.	143	O15522	NKX28_HUMAN	C	143	ENSP00000258829:R143C	ENSP00000258829:R143C	R	-	1	0	NKX2-8	36120151	.	.	0.984000	0.44739	0.330000	0.28571	.	.	2.166000	0.68216	0.561000	0.74099	CGC		0.701	NKX2-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071844.6				4	6	0	0	0	0.000602	0	4	6		
MIPOL1	145282	broad.mit.edu	37	14	37739687	37739687	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:37739687C>T	ENST00000327441.7	+	7	916	c.450C>T	c.(448-450)ctC>ctT	p.L150L	MIPOL1_ENST00000396294.2_Silent_p.L150L|MIPOL1_ENST00000556451.1_Silent_p.L119L|MIPOL1_ENST00000539062.2_Silent_p.L119L|MIPOL1_ENST00000536774.1_Intron|MIPOL1_ENST00000545536.1_Silent_p.L119L|MIPOL1_ENST00000539174.2_3'UTR|MIPOL1_ENST00000537471.1_Silent_p.L150L	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	150						nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		AGCTGGAACTCCAAGAGAAAG	0.333																																						uc001wuc.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(448-450)CTC>CTT		mirror-image polydactyly 1							55.0	54.0	54.0					14																	37739687		2203	4299	6502	SO:0001819	synonymous_variant	145282							g.chr14:37739687C>T	AY059470	CCDS9664.1	14q13.3	2010-05-25			ENSG00000151338	ENSG00000151338			21460	protein-coding gene	gene with protein product		606850				11954550, 19667180	Standard	NM_001195296		Approved		uc001wuc.3	Q8TD10	OTTHUMG00000140252	ENST00000327441.7:c.450C>T	14.37:g.37739687C>T						MIPOL1_uc010amr.2_RNA|MIPOL1_uc001wub.3_Silent_p.L119L|MIPOL1_uc001wud.2_Silent_p.L150L|MIPOL1_uc010ams.2_Silent_p.L150L|MIPOL1_uc001wue.2_Silent_p.L119L|MIPOL1_uc010amt.2_Intron	p.L150L	NM_138731	NP_620059	Q8TD10	MIPO1_HUMAN	Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)	7	953	+	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		150			Potential.		D3DSA4|Q7Z3J0|Q8IV14	Silent	SNP	ENST00000327441.7	37	c.450C>T	CCDS9664.1																																																																																				0.333	MIPOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276734.1		NM_138731		8	15	0	0	0	0.004482	0	8	15		
FOXA1	3169	broad.mit.edu	37	14	38061866	38061866	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:38061866C>T	ENST00000250448.2	-	2	184	c.123G>A	c.(121-123)atG>atA	p.M41I	FOXA1_ENST00000540786.1_Missense_Mutation_p.M8I|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	41					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		TCATGGAGTTCATGGAGCCCA	0.597																																						uc001wuf.2		NaN																	0					0						c.(121-123)ATG>ATA		forkhead box A1							153.0	133.0	140.0					14																	38061866		2203	4300	6503	SO:0001583	missense	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061866C>T	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.123G>A	14.37:g.38061866C>T	ENSP00000250448:p.Met41Ile					FOXA1_uc010tpz.1_Missense_Mutation_p.M8I	p.M41I	NM_004496	NP_004487	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	435	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		41					B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	ENST00000250448.2	37	c.123G>A	CCDS9665.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.526488	0.64860	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	T;T	0.27256	1.68;1.68	4.16	4.16	0.48862	Fork-head N-terminal (1);	1.228710	0.05820	U	0.615651	T	0.39200	0.1069	L	0.46157	1.445	0.58432	D	0.999999	P	0.42757	0.789	P	0.49140	0.601	T	0.10359	-1.0633	10	0.72032	D	0.01	.	14.421	0.67183	0.0:1.0:0.0:0.0	.	41	P55317	FOXA1_HUMAN	I	41;8	ENSP00000250448:M41I;ENSP00000440178:M8I	ENSP00000250448:M41I	M	-	3	0	FOXA1	37131617	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.159000	0.77483	2.135000	0.66039	0.561000	0.74099	ATG		0.597	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1				9	60	0	0	0	0.006214	0	9	60		
LRFN5	145581	broad.mit.edu	37	14	42356687	42356687	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:42356687C>T	ENST00000298119.4	+	3	2048	c.859C>T	c.(859-861)Cct>Tct	p.P287S	LRFN5_ENST00000554120.1_Missense_Mutation_p.P287S|LRFN5_ENST00000554171.1_Missense_Mutation_p.P287S	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	287	Ig-like.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GTGTGAGCCTCCTCTCATTAC	0.493										HNSCC(30;0.082)																												uc001wvm.2		NaN																	0				ovary(5)|pancreas(2)|central_nervous_system(1)	8						c.(859-861)CCT>TCT		leucine rich repeat and fibronectin type III							130.0	125.0	126.0					14																	42356687		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42356687C>T	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.859C>T	14.37:g.42356687C>T	ENSP00000298119:p.Pro287Ser	HNSCC(30;0.082)				LRFN5_uc010ana.2_Missense_Mutation_p.P287S	p.P287S	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	3	2057	+			287			Extracellular (Potential).|Ig-like.		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.859C>T	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.660194	0.67586	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	D;D;D	0.88896	-2.44;-2.44;-2.44	5.4	5.4	0.78164	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000029	D	0.96778	0.8948	H	0.97783	4.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97878	1.0290	10	0.66056	D	0.02	.	17.0338	0.86468	0.0:1.0:0.0:0.0	.	287;287	G3V364;Q96NI6	.;LRFN5_HUMAN	S	287	ENSP00000298119:P287S;ENSP00000451897:P287S;ENSP00000451067:P287S	ENSP00000298119:P287S	P	+	1	0	LRFN5	41426437	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.680000	0.91292	0.563000	0.77884	CCT		0.493	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1		NM_152447		16	56	0	0	0	0.003163	0	16	56		
KLHL28	54813	broad.mit.edu	37	14	45414370	45414370	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:45414370C>T	ENST00000396128.4	-	2	881	c.762G>A	c.(760-762)ttG>ttA	p.L254L	KLHL28_ENST00000355081.2_Silent_p.L268L	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	254										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GGGCTTCATTCAAAAGATGTT	0.398																																						uc001wvq.2		NaN																	0				ovary(1)	1						c.(760-762)TTG>TTA		BTB (POZ) domain containing 5							132.0	120.0	124.0					14																	45414370		2203	4300	6503	SO:0001819	synonymous_variant	54813							g.chr14:45414370C>T	AK000088	CCDS9680.1	14q21.1	2013-02-22	2013-02-22	2007-01-09	ENSG00000179454	ENSG00000179454		"""Kelch-like"", ""BTB/POZ domain containing"""	19741	protein-coding gene	gene with protein product			"""BTB (POZ) domain containing 5"", ""kelch-like 28 (Drosophila)"""	BTBD5			Standard	NM_017658		Approved	FLJ20081	uc001wvr.3	Q9NXS3	OTTHUMG00000140263	ENST00000396128.4:c.762G>A	14.37:g.45414370C>T						KLHL28_uc001wvr.2_Silent_p.L254L|KLHL28_uc001wvt.3_Silent_p.L254L	p.L254L	NM_017658	NP_060128	Q9NXS3	KLH28_HUMAN			2	1008	-			254					Q0VAL5	Silent	SNP	ENST00000396128.4	37	c.762G>A	CCDS9680.1																																																																																				0.398	KLHL28-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276790.3				6	30	0	0	0	0.001168	0	6	30		
C14orf183	196913	broad.mit.edu	37	14	50559295	50559295	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:50559295T>C	ENST00000305273.1	-	1	66	c.67A>G	c.(67-69)Atg>Gtg	p.M23V		NM_001014830.1	NP_001014830.1	Q8WXQ3	CN183_HUMAN	chromosome 14 open reading frame 183	23										endometrium(2)|large_intestine(2)|lung(3)	7						CACATTTCCATCCAGATTTCA	0.438																																						uc010tqk.1		NaN																	0					0						c.(67-69)ATG>GTG		hypothetical protein LOC196913							162.0	154.0	156.0					14																	50559295		1941	4141	6082	SO:0001583	missense	196913							g.chr14:50559295T>C	AF390030	CCDS45101.1	14q21.3	2012-09-26			ENSG00000168260	ENSG00000168260			27285	protein-coding gene	gene with protein product							Standard	NM_001014830		Approved		uc010tqk.2	Q8WXQ3	OTTHUMG00000170858	ENST00000305273.1:c.67A>G	14.37:g.50559295T>C	ENSP00000303234:p.Met23Val						p.M23V	NM_001014830	NP_001014830	Q8WXQ3	CN183_HUMAN			1	67	-			23						Missense_Mutation	SNP	ENST00000305273.1	37	c.67A>G	CCDS45101.1	.	.	.	.	.	.	.	.	.	.	T	3.067	-0.191908	0.06299	.	.	ENSG00000168260	ENST00000305273	.	.	.	3.16	0.785	0.18584	.	.	.	.	.	T	0.17450	0.0419	N	0.08118	0	0.09310	N	1	B	0.16396	0.017	B	0.12837	0.008	T	0.21042	-1.0257	8	0.87932	D	0	.	5.0848	0.14676	0.0:0.6033:0.0:0.3967	.	23	Q8WXQ3	CN183_HUMAN	V	23	.	ENSP00000303234:M23V	M	-	1	0	C14orf183	49629045	0.000000	0.05858	0.001000	0.08648	0.153000	0.21895	-0.649000	0.05384	0.148000	0.19059	0.454000	0.30748	ATG		0.438	C14orf183-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000410705.1		NM_001014830		11	28	0	0	0	0.013537	0	11	28		
ARID4A	5926	broad.mit.edu	37	14	58820410	58820410	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:58820410G>A	ENST00000355431.3	+	17	2063	c.1690G>A	c.(1690-1692)Gag>Aag	p.E564K	ARID4A_ENST00000553355.1_3'UTR|ARID4A_ENST00000395168.3_Missense_Mutation_p.E564K|ARID4A_ENST00000348476.3_Missense_Mutation_p.E564K|ARID4A_ENST00000431317.2_Missense_Mutation_p.E564K	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	564					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CTCTGAAGGAGAGGAAGATGA	0.358																																						uc001xdp.2		NaN																	0				ovary(3)|skin(2)|lung(1)	6						c.(1690-1692)GAG>AAG		retinoblastoma-binding protein 1 isoform I							88.0	90.0	90.0					14																	58820410		2203	4300	6503	SO:0001583	missense	5926				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:58820410G>A	S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.1690G>A	14.37:g.58820410G>A	ENSP00000347602:p.Glu564Lys					ARID4A_uc001xdo.2_Missense_Mutation_p.E564K|ARID4A_uc001xdq.2_Missense_Mutation_p.E564K|ARID4A_uc010apg.1_Missense_Mutation_p.E242K	p.E564K	NM_002892	NP_002883	P29374	ARI4A_HUMAN			17	1944	+			564					Q15991|Q15992|Q15993	Missense_Mutation	SNP	ENST00000355431.3	37	c.1690G>A	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.833770	0.91036	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000431317;ENST00000417477	T;T;T;T;T	0.46063	1.15;0.88;0.88;0.88;0.88	6.08	6.08	0.98989	Chromo domain-like (1);	0.000000	0.85682	D	0.000000	T	0.56601	0.1996	L	0.32530	0.975	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.998	D;D;D	0.78314	0.991;0.98;0.991	T	0.47195	-0.9136	10	0.36615	T	0.2	-23.3306	20.6721	0.99693	0.0:0.0:1.0:0.0	.	564;564;564	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	K	564;564;564;564;242	ENSP00000347602:E564K;ENSP00000344556:E564K;ENSP00000378597:E564K;ENSP00000397368:E564K;ENSP00000416053:E242K	ENSP00000344556:E564K	E	+	1	0	ARID4A	57890163	1.000000	0.71417	1.000000	0.80357	0.577000	0.36160	7.235000	0.78143	2.894000	0.99253	0.591000	0.81541	GAG		0.358	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2		NM_023001		11	16	0	0	0	0.010729	0	11	16		
C14orf39	317761	broad.mit.edu	37	14	60945040	60945040	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:60945040G>A	ENST00000321731.3	-	5	460	c.301C>T	c.(301-303)Caa>Taa	p.Q101*		NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39	101					multicellular organismal development (GO:0007275)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		ACAGTTCCTTGATAAACAGTA	0.289																																						uc001xez.3		NaN																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(301-303)CAA>TAA		hypothetical protein LOC317761							73.0	72.0	73.0					14																	60945040		2201	4295	6496	SO:0001587	stop_gained	317761							g.chr14:60945040G>A	AK098187	CCDS9746.1	14q23.1	2012-11-05	2012-11-05	2012-11-05	ENSG00000179008	ENSG00000179008			19849	protein-coding gene	gene with protein product							Standard	NM_174978		Approved	SIX6OS1	uc001xez.4	Q8N1H7	OTTHUMG00000140332	ENST00000321731.3:c.301C>T	14.37:g.60945040G>A	ENSP00000324920:p.Gln101*					C14orf39_uc010apo.2_Intron	p.Q101*	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0448)	5	411	-			101					Q08AQ4	Nonsense_Mutation	SNP	ENST00000321731.3	37	c.301C>T	CCDS9746.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.476219	0.26511	.	.	ENSG00000179008	ENST00000321731;ENST00000555476	.	.	.	5.56	5.56	0.83823	.	0.175426	0.40818	N	0.001014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-5.8305	10.7707	0.46321	0.0864:0.0:0.9136:0.0	.	.	.	.	X	101;72	.	ENSP00000324920:Q101X	Q	-	1	0	C14orf39	60014793	1.000000	0.71417	0.999000	0.59377	0.144000	0.21451	3.342000	0.52159	2.771000	0.95319	0.650000	0.86243	CAA		0.289	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276948.1		NM_174978		12	27	0	0	0	0.003163	0	12	27		
HSPA2	3306	broad.mit.edu	37	14	65008648	65008648	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:65008648G>C	ENST00000394709.1	+	2	1157	c.1081G>C	c.(1081-1083)Gag>Cag	p.E361Q	RP11-973N13.4_ENST00000554918.1_RNA|HSPA2_ENST00000247207.6_Missense_Mutation_p.E361Q			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	361					male meiosis (GO:0007140)|male meiosis I (GO:0007141)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G2/M transition of mitotic cell cycle (GO:0031662)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|spermatid development (GO:0007286)|synaptonemal complex disassembly (GO:0070194)	blood microparticle (GO:0072562)|CatSper complex (GO:0036128)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycolipid binding (GO:0051861)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		CAACGGCAAGGAGCTGAACAA	0.602																																					Pancreas(136;1211 1835 24894 31984 38227)	uc001xhj.2		NaN																	0				skin(1)	1						c.(1081-1083)GAG>CAG		heat shock 70kDa protein 2							48.0	53.0	51.0					14																	65008648		2203	4300	6503	SO:0001583	missense	3306				response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding	g.chr14:65008648G>C	L26336, BC001752	CCDS9766.1	14q23	2012-10-02	2002-08-29		ENSG00000126803	ENSG00000126803		"""Heat shock proteins / HSP70"""	5235	protein-coding gene	gene with protein product		140560	"""heat shock 70kD protein 2"""				Standard	NM_021979		Approved		uc001xhk.4	P54652	OTTHUMG00000141311	ENST00000394709.1:c.1081G>C	14.37:g.65008648G>C	ENSP00000378199:p.Glu361Gln					HSPA2_uc001xhk.3_Missense_Mutation_p.E361Q	p.E361Q	NM_021979	NP_068814	P54652	HSP72_HUMAN		all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)	2	1157	+			361					Q15508|Q53XM3|Q9UE78	Missense_Mutation	SNP	ENST00000394709.1	37	c.1081G>C	CCDS9766.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.319379	0.60524	.	.	ENSG00000126803	ENST00000394709;ENST00000247207;ENST00000545222	T;T	0.01152	5.26;5.26	5.11	5.11	0.69529	.	0.000000	0.56097	U	0.000039	T	0.05135	0.0137	M	0.71296	2.17	0.51233	D	0.999911	P	0.51537	0.946	P	0.54706	0.759	T	0.17930	-1.0353	10	0.87932	D	0	-13.2209	18.6095	0.91279	0.0:0.0:1.0:0.0	.	361	P54652	HSP72_HUMAN	Q	361;361;135	ENSP00000378199:E361Q;ENSP00000247207:E361Q	ENSP00000247207:E361Q	E	+	1	0	HSPA2	64078401	1.000000	0.71417	1.000000	0.80357	0.535000	0.34838	9.865000	0.99609	2.395000	0.81488	0.558000	0.71614	GAG		0.602	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280651.1				15	42	0	0	0	0.003163	0	15	42		
MPP5	64398	broad.mit.edu	37	14	67768707	67768707	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:67768707G>A	ENST00000261681.4	+	6	1334	c.673G>A	c.(673-675)Gat>Aat	p.D225N	MPP5_ENST00000555925.1_Missense_Mutation_p.D191N	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	225	Interaction with LIN7C. {ECO:0000250}.|L27 2. {ECO:0000255|PROSITE- ProRule:PRU00365}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		ACTGGCCCACGATAAGGTTGC	0.383																																						uc001xjc.2		NaN																	0				ovary(1)	1						c.(673-675)GAT>AAT		membrane protein, palmitoylated 5							113.0	112.0	112.0					14																	67768707		2203	4300	6503	SO:0001583	missense	64398				tight junction assembly	cytoplasm|endomembrane system|tight junction	protein domain specific binding	g.chr14:67768707G>A	AK022677	CCDS9779.1, CCDS58325.1	14q23.3	2008-08-11				ENSG00000072415			18669	protein-coding gene	gene with protein product	"""stardust"""	606958				11927608	Standard	NM_022474		Approved	PALS1, FLJ12615	uc001xjc.4	Q8N3R9		ENST00000261681.4:c.673G>A	14.37:g.67768707G>A	ENSP00000261681:p.Asp225Asn					MPP5_uc001xjd.2_Missense_Mutation_p.D191N|ATP6V1D_uc001xje.2_Intron	p.D225N	NM_022474	NP_071919	Q8N3R9	MPP5_HUMAN		all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)	6	1139	+			225			Interaction with LIN7C (By similarity).|L27 2.		A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0	Missense_Mutation	SNP	ENST00000261681.4	37	c.673G>A	CCDS9779.1	.	.	.	.	.	.	.	.	.	.	G	32	5.145063	0.94603	.	.	ENSG00000072415	ENST00000261681;ENST00000555925	T;T	0.29655	1.56;1.68	5.53	5.53	0.82687	L27, C-terminal (1);L27 (2);	0.000000	0.85682	D	0.000000	T	0.64800	0.2631	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71547	-0.4560	10	0.87932	D	0	.	19.4594	0.94910	0.0:0.0:1.0:0.0	.	225	Q8N3R9	MPP5_HUMAN	N	225;191	ENSP00000261681:D225N;ENSP00000451488:D191N	ENSP00000261681:D225N	D	+	1	0	MPP5	66838460	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.343000	0.97047	2.592000	0.87571	0.650000	0.86243	GAT		0.383	MPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412498.1		NM_022474		14	31	0	0	0	0.00245	0	14	31		
SLC8A3	6547	broad.mit.edu	37	14	70513028	70513028	+	Missense_Mutation	SNP	C	C	G	rs563536168		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:70513028C>G	ENST00000381269.2	-	8	3173	c.2420G>C	c.(2419-2421)aGc>aCc	p.S807T	SLC8A3_ENST00000356921.2_Missense_Mutation_p.S801T|SLC8A3_ENST00000528359.1_Missense_Mutation_p.S805T|SLC8A3_ENST00000216568.7_Missense_Mutation_p.S178T|SLC8A3_ENST00000534137.1_Missense_Mutation_p.S804T|SLC8A3_ENST00000533541.1_3'UTR|SLC8A3_ENST00000357887.3_Missense_Mutation_p.S805T|SLC8A3_ENST00000394330.2_Missense_Mutation_p.S164T	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	807					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		AGCAGCTTTGCTGGCAAACGT	0.557											OREG0022773	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001xly.2		NaN																	0				skin(3)|ovary(2)|breast(2)	7						c.(2419-2421)AGC>ACC		solute carrier family 8 (sodium/calcium							43.0	40.0	41.0					14																	70513028		2203	4300	6503	SO:0001583	missense	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70513028C>G	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.2420G>C	14.37:g.70513028C>G	ENSP00000370669:p.Ser807Thr		OREG0022773	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1122	SLC8A3_uc001xlu.2_Missense_Mutation_p.S164T|SLC8A3_uc001xlv.2_Missense_Mutation_p.S178T|SLC8A3_uc001xlw.2_Missense_Mutation_p.S804T|SLC8A3_uc001xlx.2_Missense_Mutation_p.S805T|SLC8A3_uc001xlz.2_Missense_Mutation_p.S801T|SLC8A3_uc010ara.2_RNA|SLC8A3_uc001xma.2_3'UTR	p.S807T	NM_183002	NP_892114	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	8	3174	-			807			Alpha-2.|Extracellular (Potential).		Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	c.2420G>C	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.697705	0.88830	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000216568;ENST00000394330;ENST00000534137;ENST00000528359	T;T;T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34	5.76	5.76	0.90799	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	D	0.85716	0.5761	M	0.89478	3.035	0.80722	D	1	D;D;D;D;D	0.89917	0.986;0.995;0.963;0.985;1.0	D;D;D;D;D	0.87578	0.974;0.989;0.966;0.977;0.998	D	0.87534	0.2454	10	0.87932	D	0	.	19.9788	0.97318	0.0:1.0:0.0:0.0	.	801;807;805;804;178	P57103-2;P57103;Q96QG2;Q96QG1;Q5K3P6	.;NAC3_HUMAN;.;.;.	T	801;807;805;178;164;804;805	ENSP00000349392:S801T;ENSP00000370669:S807T;ENSP00000350560:S805T;ENSP00000216568:S178T;ENSP00000377863:S164T;ENSP00000436688:S804T;ENSP00000433531:S805T	ENSP00000216568:S178T	S	-	2	0	SLC8A3	69582781	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.818000	0.86416	2.719000	0.93026	0.555000	0.69702	AGC		0.557	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1				7	20	0	0	0	0.00308	0	7	20		
SLC8A3	6547	broad.mit.edu	37	14	70634195	70634195	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:70634195C>T	ENST00000381269.2	-	2	1698	c.945G>A	c.(943-945)gaG>gaA	p.E315E	SLC8A3_ENST00000356921.2_Silent_p.E315E|SLC8A3_ENST00000528359.1_Silent_p.E315E|SLC8A3_ENST00000534137.1_Silent_p.E315E|SLC8A3_ENST00000357887.3_Silent_p.E315E	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	315					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TCCGGATCATCTCTCTGCGGG	0.483																																						uc001xly.2		NaN																	0				skin(3)|ovary(2)|breast(2)	7						c.(943-945)GAG>GAA		solute carrier family 8 (sodium/calcium							98.0	97.0	97.0					14																	70634195		2203	4300	6503	SO:0001819	synonymous_variant	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70634195C>T	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.945G>A	14.37:g.70634195C>T						SLC8A3_uc001xlw.2_Silent_p.E315E|SLC8A3_uc001xlx.2_Silent_p.E315E|SLC8A3_uc001xlz.2_Silent_p.E315E|SLC8A3_uc010ara.2_RNA	p.E315E	NM_183002	NP_892114	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	2	1699	-			315			Cytoplasmic (Potential).		Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Silent	SNP	ENST00000381269.2	37	c.945G>A	CCDS35498.1																																																																																				0.483	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1				14	44	0	0	0	0.003163	0	14	44		
TTC9	23508	broad.mit.edu	37	14	71134362	71134362	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:71134362A>C	ENST00000256367.2	+	2	831	c.488A>C	c.(487-489)aAc>aCc	p.N163T		NM_015351.1	NP_056166.1	Q92623	TTC9A_HUMAN	tetratricopeptide repeat domain 9	163										skin(1)	1				all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538)		GAAGGGGAGAACTTCAAGGCC	0.507																																						uc001xmi.2		NaN																	0					0						c.(487-489)AAC>ACC		tetratricopeptide repeat domain 9							133.0	129.0	131.0					14																	71134362		1958	4156	6114	SO:0001583	missense	23508						binding	g.chr14:71134362A>C	D86980	CCDS45132.1	14q24.2	2014-08-12			ENSG00000133985			"""Tetratricopeptide (TTC) repeat domain containing"""	20267	protein-coding gene	gene with protein product		610488					Standard	NM_015351		Approved	KIAA0227, TTC9A	uc001xmi.2	Q92623	OTTHUMG00000172133	ENST00000256367.2:c.488A>C	14.37:g.71134362A>C	ENSP00000256367:p.Asn163Thr						p.N163T	NM_015351	NP_056166	Q92623	TTC9A_HUMAN		all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538)	2	831	+			163			TPR 3.		Q86WT2	Missense_Mutation	SNP	ENST00000256367.2	37	c.488A>C	CCDS45132.1	.	.	.	.	.	.	.	.	.	.	A	16.19	3.052546	0.55218	.	.	ENSG00000133985	ENST00000256367	T	0.18016	2.24	5.02	5.02	0.67125	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.46852	0.1414	M	0.87269	2.87	0.58432	D	0.999999	D	0.89917	1.0	D	0.71656	0.974	T	0.56147	-0.8027	10	0.87932	D	0	-25.4779	14.905	0.70711	1.0:0.0:0.0:0.0	.	163	Q92623	TTC9A_HUMAN	T	163	ENSP00000256367:N163T	ENSP00000256367:N163T	N	+	2	0	TTC9	70204115	1.000000	0.71417	1.000000	0.80357	0.003000	0.03518	8.746000	0.91604	2.099000	0.63709	0.533000	0.62120	AAC		0.507	TTC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417024.1		XM_027236		17	48	0	0	0	0.004007	0	17	48		
TC2N	123036	broad.mit.edu	37	14	92258883	92258883	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:92258883G>A	ENST00000435962.2	-	9	1198	c.875C>T	c.(874-876)aCg>aTg	p.T292M	TC2N_ENST00000360594.5_Missense_Mutation_p.T292M|TC2N_ENST00000556018.1_Intron|TC2N_ENST00000340892.5_Missense_Mutation_p.T292M	NM_001128596.1	NP_001122068	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	292					regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		AAATACAAACGTTTCCATAAA	0.254																																						uc001xzu.3		NaN																	0				upper_aerodigestive_tract(1)	1						c.(874-876)ACG>ATG		tandem C2 domains, nuclear							60.0	59.0	59.0					14																	92258883		2203	4300	6503	SO:0001583	missense	123036					nucleus		g.chr14:92258883G>A	AA243837	CCDS9897.1, CCDS73679.1	14q32.12	2007-10-17	2007-08-17	2007-08-17		ENSG00000165929			19859	protein-coding gene	gene with protein product	"""C2 calcium-dependent domain containing 1"""		"""chromosome 14 open reading frame 47"", ""membrane targeting (tandem) C2 domain containing 1"""	C14orf47, MTAC2D1		11526914	Standard	NM_001128596		Approved	FLJ36557, Tac2-N, C2CD1	uc001xzt.4	Q8N9U0		ENST00000435962.2:c.875C>T	14.37:g.92258883G>A	ENSP00000387882:p.Thr292Met					TC2N_uc001xzt.3_Missense_Mutation_p.T292M|TC2N_uc010auc.2_Intron|TC2N_uc001xzv.3_Missense_Mutation_p.T292M	p.T292M	NM_001128595	NP_001122067	Q8N9U0	TAC2N_HUMAN		COAD - Colon adenocarcinoma(157;0.218)	9	1066	-			292						Missense_Mutation	SNP	ENST00000435962.2	37	c.875C>T	CCDS9897.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108741	0.77096	.	.	ENSG00000165929	ENST00000435962;ENST00000340892;ENST00000360594;ENST00000556590	T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22	5.65	5.65	0.86999	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.046539	0.85682	D	0.000000	D	0.83940	0.5363	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85347	0.1099	10	0.87932	D	0	-20.8346	19.7198	0.96137	0.0:0.0:1.0:0.0	.	292	Q8N9U0	TAC2N_HUMAN	M	292;292;292;44	ENSP00000387882:T292M;ENSP00000343199:T292M;ENSP00000353802:T292M;ENSP00000450922:T44M	ENSP00000343199:T292M	T	-	2	0	TC2N	91328636	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.797000	0.85911	2.645000	0.89757	0.557000	0.71058	ACG		0.254	TC2N-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411778.1		NM_152332		6	24	0	0	0	0.001984	0	6	24		
TRIP11	9321	broad.mit.edu	37	14	92466417	92466417	+	Silent	SNP	T	T	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:92466417T>A	ENST00000267622.4	-	12	4966	c.4593A>T	c.(4591-4593)gcA>gcT	p.A1531A		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1531					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTGATTTAACTGCATTTAAAA	0.353			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	uc001xzy.2		NaN		Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13						c.(4591-4593)GCA>GCT		thyroid hormone receptor interactor 11							94.0	85.0	88.0					14																	92466417		2201	4298	6499	SO:0001819	synonymous_variant	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92466417T>A	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.4593A>T	14.37:g.92466417T>A						TRIP11_uc010auf.1_Silent_p.A1267A	p.A1531A	NM_004239	NP_004230	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	12	5381	-			1531			Potential.		B2RUT2|O14689|O15154|O95949	Silent	SNP	ENST00000267622.4	37	c.4593A>T	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	T	9.256	1.042007	0.19748	.	.	ENSG00000100815	ENST00000554357	.	.	.	5.85	0.788	0.18601	.	.	.	.	.	T	0.51686	0.1689	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35500	-0.9786	4	.	.	.	.	5.9117	0.19031	0.1094:0.2516:0.0:0.639	.	.	.	.	C	1247	.	.	S	-	1	0	TRIP11	91536170	1.000000	0.71417	0.989000	0.46669	0.793000	0.44817	1.361000	0.34136	-0.089000	0.12484	-0.333000	0.08304	AGT		0.353	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1				7	25	0	0	0	0.00308	0	7	25		
GOLGA5	9950	broad.mit.edu	37	14	93299524	93299524	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:93299524C>A	ENST00000163416.2	+	10	2033	c.1777C>A	c.(1777-1779)Cag>Aag	p.Q593K	GOLGA5_ENST00000355976.2_Missense_Mutation_p.Q593K	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	593					Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		TCGACTCCATCAGCTAACAGA	0.413			T	RET	papillary thyroid																																	uc001yaz.1		NaN		Dom	yes		14	14q	9950	T	"""golgi autoantigen, golgin subfamily a, 5  (PTC5)"""			E	RET		papillary thyroid		0				ovary(2)|lung(1)	3						c.(1777-1779)CAG>AAG		Golgi autoantigen, golgin subfamily a, 5							100.0	101.0	100.0					14																	93299524		2203	4300	6503	SO:0001583	missense	9950				Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding	g.chr14:93299524C>A	AF085199	CCDS9905.1	14q32.12	2012-05-04	2010-02-12		ENSG00000066455	ENSG00000066455			4428	protein-coding gene	gene with protein product	"""golgi integral membrane protein 5"""	606918	"""golgi autoantigen, golgin subfamily a, 5"""			2734021, 9443391, 15004235	Standard	NM_005113		Approved	ret-II, golgin-84, rfg5, GOLIM5	uc001yaz.1	Q8TBA6	OTTHUMG00000171217	ENST00000163416.2:c.1777C>A	14.37:g.93299524C>A	ENSP00000163416:p.Gln593Lys					GOLGA5_uc001yba.1_5'UTR	p.Q593K	NM_005113	NP_005104	Q8TBA6	GOGA5_HUMAN		COAD - Colon adenocarcinoma(157;0.222)	10	1959	+		all_cancers(154;0.0934)	593			Cytoplasmic (Potential).|Potential.		C9JRU1|O95287|Q03962|Q2TS49|Q9UQQ7	Missense_Mutation	SNP	ENST00000163416.2	37	c.1777C>A	CCDS9905.1	.	.	.	.	.	.	.	.	.	.	C	32	5.132249	0.94473	.	.	ENSG00000066455	ENST00000163416;ENST00000355976;ENST00000439315	T;T	0.44881	0.91;0.91	5.66	5.66	0.87406	.	0.000000	0.44902	D	0.000402	T	0.60560	0.2278	M	0.74881	2.28	0.80722	D	1	D	0.58970	0.984	P	0.55508	0.777	T	0.57751	-0.7757	10	0.35671	T	0.21	-12.944	19.7525	0.96273	0.0:1.0:0.0:0.0	.	593	Q8TBA6	GOGA5_HUMAN	K	593;593;502	ENSP00000163416:Q593K;ENSP00000348252:Q593K	ENSP00000163416:Q593K	Q	+	1	0	GOLGA5	92369277	1.000000	0.71417	0.994000	0.49952	0.816000	0.46133	7.726000	0.84824	2.669000	0.90835	0.591000	0.81541	CAG		0.413	GOLGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412365.1				22	50	1	0	3.62473e-10	0.012319	3.8622e-10	22	50		
DYNC1H1	1778	broad.mit.edu	37	14	102446773	102446773	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:102446773C>A	ENST00000360184.4	+	5	1011	c.847C>A	c.(847-849)Cgt>Agt	p.R283S		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	283	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AAACTTGGAACGTGCGTTATA	0.468																																						uc001yks.2		NaN																	0				ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(847-849)CGT>AGT		cytoplasmic dynein 1 heavy chain 1																																				SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102446773C>A	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.847C>A	14.37:g.102446773C>A	ENSP00000348965:p.Arg283Ser						p.R283S	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			5	1011	+			283			Stem (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.847C>A	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	10.50	1.366801	0.24771	.	.	ENSG00000197102	ENST00000360184	T	0.55413	0.52	5.24	5.24	0.73138	Dynein heavy chain, domain-1 (1);	0.000000	0.85682	D	0.000000	T	0.53254	0.1785	M	0.61703	1.905	0.80722	D	1	P	0.38642	0.641	P	0.44772	0.46	T	0.45948	-0.9226	10	0.09338	T	0.73	.	13.3735	0.60726	0.277:0.723:0.0:0.0	.	283	Q14204	DYHC1_HUMAN	S	283	ENSP00000348965:R283S	ENSP00000348965:R283S	R	+	1	0	DYNC1H1	101516526	1.000000	0.71417	0.998000	0.56505	0.429000	0.31625	2.853000	0.48317	2.601000	0.87937	0.591000	0.81541	CGT		0.468	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1		NM_001376		4	35	1	0	0.00024832	0.009096	0.000257894	4	35		
ZNF839	55778	broad.mit.edu	37	14	102805205	102805205	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:102805205C>G	ENST00000558850.1	+	6	1714	c.1364C>G	c.(1363-1365)cCa>cGa	p.P455R	ZNF839_ENST00000442396.2_Missense_Mutation_p.P571R|ZNF839_ENST00000420933.2_3'UTR|AL137229.1_ENST00000577622.1_RNA|ZNF839_ENST00000262236.5_Missense_Mutation_p.P455R|ZNF839_ENST00000559185.1_Missense_Mutation_p.P455R	NM_001267827.1	NP_001254756.1	A8K0R7	ZN839_HUMAN	zinc finger protein 839	455							metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GAAATACACCCAGACAACCTT	0.502																																						uc001ylo.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1363-1365)CCA>CGA		zinc finger protein 839							94.0	95.0	95.0					14																	102805205		1999	4160	6159	SO:0001583	missense	55778					intracellular	zinc ion binding	g.chr14:102805205C>G	AK093342	CCDS45164.1, CCDS58336.1	14q32.32	2010-05-06	2008-06-23	2008-06-23	ENSG00000022976	ENSG00000022976			20345	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 131"""	C14orf131			Standard	NM_018335		Approved		uc010awk.2	A8K0R7		ENST00000558850.1:c.1364C>G	14.37:g.102805205C>G	ENSP00000453363:p.Pro455Arg					ZNF839_uc010awk.1_Missense_Mutation_p.P571R|ZNF839_uc001ylp.2_RNA|ZNF839_uc001ylq.1_Missense_Mutation_p.P455R|ZNF839_uc001ylr.2_Missense_Mutation_p.P380R|ZNF839_uc001yls.2_Missense_Mutation_p.P70R|ZNF839_uc001ylt.2_Missense_Mutation_p.P45R	p.P455R	NM_018335	NP_060805	A8K0R7	ZN839_HUMAN			6	1714	+			455					B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3	Missense_Mutation	SNP	ENST00000558850.1	37	c.1364C>G	CCDS58336.1	.	.	.	.	.	.	.	.	.	.	C	7.306	0.613934	0.14066	.	.	ENSG00000022976	ENST00000442396;ENST00000262236;ENST00000398436	T;T	0.16743	2.32;2.32	4.87	1.68	0.24146	.	1.616370	0.03601	N	0.233479	T	0.14442	0.0349	L	0.34521	1.04	0.09310	N	1	P;P;B;P	0.47677	0.764;0.899;0.358;0.531	P;B;B;B	0.45449	0.481;0.387;0.202;0.277	T	0.19778	-1.0295	10	0.16896	T	0.51	.	2.522	0.04682	0.2405:0.4252:0.0:0.3344	.	571;455;334;455	A8K0R7-5;A8K0R7-2;Q9NT83;A8K0R7	.;.;.;ZN839_HUMAN	R	571;455;123	ENSP00000399863:P571R;ENSP00000262236:P455R	ENSP00000262236:P455R	P	+	2	0	ZNF839	101874958	0.000000	0.05858	0.002000	0.10522	0.027000	0.11550	0.134000	0.15932	1.029000	0.39812	0.558000	0.71614	CCA		0.502	ZNF839-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415492.2		NM_018335		5	31	0	0	0	0.001168	0	5	31		
TRMT61A	115708	broad.mit.edu	37	14	103996324	103996324	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:103996324C>G	ENST00000389749.4	+	2	116	c.9C>G	c.(7-9)ttC>ttG	p.F3L	RP11-600F24.7_ENST00000568177.1_RNA	NM_152307.2	NP_689520.2	Q96FX7	TRM61_HUMAN	tRNA methyltransferase 61 homolog A (S. cerevisiae)	3						nucleus (GO:0005634)|tRNA (m1A) methyltransferase complex (GO:0031515)	tRNA (adenine-N1-)-methyltransferase activity (GO:0016429)			skin(1)	1						CCATGAGCTTCGTGGCATACG	0.617																																						uc001yng.2		NaN																	0					0						c.(7-9)TTC>TTG		tRNA(m1A58)-methyltransferase subunit TRM61							39.0	40.0	40.0					14																	103996324		2171	4270	6441	SO:0001583	missense	115708					nucleus	protein binding|tRNA (adenine-N1-)-methyltransferase activity	g.chr14:103996324C>G	AK097771	CCDS41994.1	14q32	2009-01-09	2009-01-09	2009-01-09		ENSG00000166166			23790	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 172"""	C14orf172		16043508	Standard	NM_152307		Approved	FLJ40452, GCD14, Gcd14p, hTRM61	uc010aws.3	Q96FX7		ENST00000389749.4:c.9C>G	14.37:g.103996324C>G	ENSP00000374399:p.Phe3Leu					TRMT61A_uc010aws.2_Intron	p.F3L	NM_152307	NP_689520	Q96FX7	TRM61_HUMAN			2	128	+			3					A6NN78|Q8N7Q9	Missense_Mutation	SNP	ENST00000389749.4	37	c.9C>G	CCDS41994.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.583051	0.65992	.	.	ENSG00000166166	ENST00000389749;ENST00000299201	T	0.57107	0.42	4.13	0.0463	0.14233	.	0.000000	0.85682	D	0.000000	T	0.66458	0.2791	M	0.86343	2.81	0.80722	D	1	D	0.65815	0.995	D	0.65684	0.937	T	0.63010	-0.6732	10	0.59425	D	0.04	-12.7004	3.836	0.08894	0.1719:0.327:0.0:0.501	.	3	Q96FX7	TRM61_HUMAN	L	3	ENSP00000374399:F3L	ENSP00000299201:F3L	F	+	3	2	TRMT61A	103066077	1.000000	0.71417	0.996000	0.52242	0.357000	0.29423	1.213000	0.32407	0.056000	0.16144	0.561000	0.74099	TTC		0.617	TRMT61A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414988.1		NM_152307		3	12	0	0	0	0.000602	0	3	12		
AHNAK2	113146	broad.mit.edu	37	14	105407270	105407270	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:105407270A>G	ENST00000333244.5	-	7	14637	c.14518T>C	c.(14518-14520)Tct>Cct	p.S4840P	AHNAK2_ENST00000557457.1_5'UTR	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4840						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCAGCTTGAGATGTTGGAACT	0.463																																						uc010axc.1		NaN																	0				ovary(1)	1						c.(14518-14520)TCT>CCT		AHNAK nucleoprotein 2							27.0	28.0	28.0					14																	105407270		1942	4149	6091	SO:0001583	missense	113146					nucleus		g.chr14:105407270A>G	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.14518T>C	14.37:g.105407270A>G	ENSP00000353114:p.Ser4840Pro					AHNAK2_uc001ypx.2_Missense_Mutation_p.S4740P	p.S4840P	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	14638	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4840					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.14518T>C	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	A	13.59	2.282133	0.40394	.	.	ENSG00000185567	ENST00000333244	T	0.06933	3.24	4.01	-7.7	0.01259	.	.	.	.	.	T	0.03095	0.0091	N	0.12182	0.205	0.09310	N	1	B	0.12013	0.005	B	0.10450	0.005	T	0.43130	-0.9410	9	0.30078	T	0.28	.	2.3082	0.04179	0.1364:0.2878:0.3553:0.2205	.	4840	Q8IVF2	AHNK2_HUMAN	P	4840	ENSP00000353114:S4840P	ENSP00000353114:S4840P	S	-	1	0	AHNAK2	104478315	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.474000	0.00228	-0.993000	0.03467	-0.371000	0.07208	TCT		0.463	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1		NM_138420		4	13	0	0	0	0.009096	0	4	13		
NPAP1	23742	broad.mit.edu	37	15	24922847	24922847	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:24922847G>A	ENST00000329468.2	+	1	2307	c.1833G>A	c.(1831-1833)caG>caA	p.Q611Q		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	611					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											GTGCAGAGCAGAGGCACCCGG	0.463																																						uc001ywo.2		NaN																	0				ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(1831-1833)CAG>CAA		hypothetical protein LOC23742							86.0	98.0	94.0					15																	24922847		2203	4300	6503	SO:0001819	synonymous_variant	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24922847G>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.1833G>A	15.37:g.24922847G>A							p.Q611Q	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	2307	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	611						Silent	SNP	ENST00000329468.2	37	c.1833G>A	CCDS10015.1																																																																																				0.463	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1		NM_018958		12	49	0	0	0	0.013537	0	12	49		
NDNL2	56160	broad.mit.edu	37	15	29561649	29561649	+	Silent	SNP	C	C	T	rs138846663		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:29561649C>T	ENST00000332303.4	-	1	384	c.261G>A	c.(259-261)ctG>ctA	p.L87L	FAM189A1_ENST00000261275.4_Intron	NM_138704.3	NP_619649.1	Q96MG7	MAGG1_HUMAN	necdin-like 2	87	Interaction with NSMCE1.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Smc5-Smc6 complex (GO:0030915)				breast(3)|large_intestine(2)|lung(3)	8		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CGGACACTTTCAGCTCCAGCT	0.667											OREG0032044	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)																										uc001zco.2		NaN																	0					0						c.(259-261)CTG>CTA		necdin-like 2							60.0	60.0	60.0					15																	29561649		2203	4300	6503	SO:0001819	synonymous_variant	56160				regulation of growth	cytoplasm|nucleus		g.chr15:29561649C>T	AF490510	CCDS10023.1	15q13.1	2008-02-01			ENSG00000185115	ENSG00000185115			7677	protein-coding gene	gene with protein product		608243				18086888	Standard	NM_138704		Approved	HCA4, MAGEG1, MAGEL3, NSE3, NSMCE3	uc001zco.3	Q96MG7	OTTHUMG00000129261	ENST00000332303.4:c.261G>A	15.37:g.29561649C>T			OREG0032044	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	810	FAM189A1_uc010azk.1_Intron	p.L87L	NM_138704	NP_619649	Q96MG7	MAGG1_HUMAN		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)	1	369	-		all_lung(180;4.69e-11)|Breast(32;0.0013)	87			MAGE.		Q8IW16|Q8TEI6|Q9H214	Silent	SNP	ENST00000332303.4	37	c.261G>A	CCDS10023.1																																																																																				0.667	NDNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251370.1		NM_138704		11	53	0	0	0	0.013537	0	11	53		
TRPM1	4308	broad.mit.edu	37	15	31360175	31360175	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:31360175T>C	ENST00000256552.6	-	5	547	c.400A>G	c.(400-402)Atg>Gtg	p.M134V	TRPM1_ENST00000542188.1_Missense_Mutation_p.M151V|TRPM1_ENST00000397795.2_Missense_Mutation_p.M112V|MIR211_ENST00000384969.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TTGGGCTGCATCTCAAAGTTC	0.537																																						uc001zfm.2		NaN																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(334-336)ATG>GTG		transient receptor potential cation channel,							123.0	122.0	122.0					15																	31360175		1902	4127	6029	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31360175T>C	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.400A>G	15.37:g.31360175T>C	ENSP00000256552:p.Met134Val					TRPM1_uc010azy.2_Missense_Mutation_p.M25V|TRPM1_uc001zfl.2_RNA|uc010ubm.1_5'Flank|MIR211_hsa-mir-211|MI0000287_5'Flank|uc010ubn.1_5'Flank	p.M112V	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	4	462	-		all_lung(180;1.92e-11)	112			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000256552.6	37	c.334A>G	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	T	14.89	2.669669	0.47677	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.03413	3.94;3.94;3.94	5.93	5.93	0.95920	.	0.040310	0.85682	D	0.000000	T	0.05640	0.0148	L	0.46670	1.46	0.49798	D	0.999821	B;B	0.24618	0.049;0.107	B;B	0.25506	0.061;0.044	T	0.20207	-1.0282	10	0.87932	D	0	-45.6723	12.8419	0.57809	0.0:0.0:0.1359:0.8641	.	112;112	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	V	112;151;134;112	ENSP00000380897:M112V;ENSP00000437849:M151V;ENSP00000256552:M134V	ENSP00000256552:M134V	M	-	1	0	TRPM1	29147467	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.369000	0.44231	2.261000	0.74972	0.477000	0.44152	ATG		0.537	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2		NM_002420		22	81	0	0	0	0.014323	0	22	81		
EIF2AK4	440275	broad.mit.edu	37	15	40241433	40241433	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:40241433G>A	ENST00000263791.5	+	4	520	c.477G>A	c.(475-477)caG>caA	p.Q159Q	EIF2AK4_ENST00000382727.2_Silent_p.Q159Q|EIF2AK4_ENST00000559624.1_Silent_p.Q159Q|snoU13_ENST00000459610.1_RNA	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	159					cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		AGGAGCAGCAGAGGCTGTTGG	0.542																																						uc001zkm.1		NaN																	0				lung(2)|stomach(1)|skin(1)	4						c.(475-477)CAG>CAA		eukaryotic translation initiation factor 2 alpha							74.0	75.0	75.0					15																	40241433		2065	4208	6273	SO:0001819	synonymous_variant	440275				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	g.chr15:40241433G>A	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.477G>A	15.37:g.40241433G>A						EIF2AK4_uc001zkl.2_Silent_p.Q159Q	p.Q159Q	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)	4	527	+		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)	159					C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Silent	SNP	ENST00000263791.5	37	c.477G>A	CCDS42016.1																																																																																				0.542	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1				10	33	0	0	0	0.008291	0	10	33		
RHOV	171177	broad.mit.edu	37	15	41165414	41165414	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:41165414C>T	ENST00000220507.4	-	3	702	c.553G>A	c.(553-555)Gag>Aag	p.E185K	AC025166.1_ENST00000582049.1_RNA	NM_133639.3	NP_598378.3			ras homolog family member V											central_nervous_system(1)|large_intestine(1)	2		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)		GCTGAGCACTCAAGGTAGCAG	0.577																																					Pancreas(13;103 483 3593 12123 44457)	uc001znd.2		NaN																	0					0						c.(553-555)GAG>AAG		ras homolog gene family, member V							86.0	89.0	88.0					15																	41165414		2203	4300	6503	SO:0001583	missense	171177				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome membrane|plasma membrane	GTP binding|metal ion binding	g.chr15:41165414C>T	AY059636	CCDS10068.1	15q13.3	2012-02-27	2012-02-27	2004-03-24	ENSG00000104140	ENSG00000104140			18313	protein-coding gene	gene with protein product			"""ras homolog gene family, member V"""	ARHV		11839775	Standard	NM_133639		Approved	Chp, WRCH2	uc001znd.3	Q96L33	OTTHUMG00000130134	ENST00000220507.4:c.553G>A	15.37:g.41165414C>T	ENSP00000220507:p.Glu185Lys						p.E185K	NM_133639	NP_598378	Q96L33	RHOV_HUMAN		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)	3	703	-		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)	185						Missense_Mutation	SNP	ENST00000220507.4	37	c.553G>A	CCDS10068.1	.	.	.	.	.	.	.	.	.	.	C	34	5.402162	0.96030	.	.	ENSG00000104140	ENST00000220507	D	0.82893	-1.66	5.63	5.63	0.86233	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.94272	0.8160	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95425	0.8511	10	0.87932	D	0	-15.7115	19.692	0.96007	0.0:1.0:0.0:0.0	.	185	Q96L33	RHOV_HUMAN	K	185	ENSP00000220507:E185K	ENSP00000220507:E185K	E	-	1	0	RHOV	38952706	1.000000	0.71417	0.955000	0.39395	0.961000	0.63080	7.803000	0.85983	2.671000	0.90904	0.455000	0.32223	GAG		0.577	RHOV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252442.1				27	71	0	0	0	0.00632	0	27	71		
RHOV	171177	broad.mit.edu	37	15	41165937	41165937	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:41165937T>A	ENST00000220507.4	-	2	361	c.212A>T	c.(211-213)cAa>cTa	p.Q71L	AC025166.1_ENST00000582049.1_RNA	NM_133639.3	NP_598378.3			ras homolog family member V											central_nervous_system(1)|large_intestine(1)	2		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)		CACCAGGACTTGCACTGCAGG	0.697																																					Pancreas(13;103 483 3593 12123 44457)	uc001znd.2		NaN																	0					0						c.(211-213)CAA>CTA		ras homolog gene family, member V							58.0	65.0	62.0					15																	41165937		2203	4300	6503	SO:0001583	missense	171177				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome membrane|plasma membrane	GTP binding|metal ion binding	g.chr15:41165937T>A	AY059636	CCDS10068.1	15q13.3	2012-02-27	2012-02-27	2004-03-24	ENSG00000104140	ENSG00000104140			18313	protein-coding gene	gene with protein product			"""ras homolog gene family, member V"""	ARHV		11839775	Standard	NM_133639		Approved	Chp, WRCH2	uc001znd.3	Q96L33	OTTHUMG00000130134	ENST00000220507.4:c.212A>T	15.37:g.41165937T>A	ENSP00000220507:p.Gln71Leu						p.Q71L	NM_133639	NP_598378	Q96L33	RHOV_HUMAN		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)	2	362	-		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)	71						Missense_Mutation	SNP	ENST00000220507.4	37	c.212A>T	CCDS10068.1	.	.	.	.	.	.	.	.	.	.	T	16.10	3.027499	0.54683	.	.	ENSG00000104140	ENST00000220507	T	0.77358	-1.09	4.97	3.85	0.44370	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.62478	0.2431	N	0.17379	0.485	0.58432	D	0.999999	B	0.11235	0.004	B	0.17433	0.018	T	0.62695	-0.6800	10	0.72032	D	0.01	0.1486	10.0188	0.42031	0.0:0.08:0.0:0.92	.	71	Q96L33	RHOV_HUMAN	L	71	ENSP00000220507:Q71L	ENSP00000220507:Q71L	Q	-	2	0	RHOV	38953229	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.190000	0.42630	1.847000	0.53656	0.455000	0.32223	CAA		0.697	RHOV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252442.1				23	91	0	0	0	0.00333	0	23	91		
INO80	54617	broad.mit.edu	37	15	41337108	41337108	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:41337108C>G	ENST00000361937.3	-	24	3325	c.2901G>C	c.(2899-2901)ttG>ttC	p.L967F	INO80_ENST00000401393.3_Missense_Mutation_p.L967F			Q9ULG1	INO80_HUMAN	INO80 complex subunit	967	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TTACCTTTAACAAAGGGCAGC	0.388																																						uc001zni.2		NaN																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(2899-2901)TTG>TTC		INO80 complex homolog 1							76.0	79.0	78.0					15																	41337108		2203	4300	6503	SO:0001583	missense	54617				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity	g.chr15:41337108C>G	AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.2901G>C	15.37:g.41337108C>G	ENSP00000355205:p.Leu967Phe					INO80_uc010ucu.1_RNA	p.L967F	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN			24	3114	-			967			Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.		A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	37	c.2901G>C	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	C	13.28	2.190344	0.38707	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.90900	-2.75;-2.75	4.82	3.9	0.45041	.	0.149206	0.46442	D	0.000288	T	0.73249	0.3563	N	0.08118	0	0.40105	D	0.976413	P	0.44578	0.838	B	0.32864	0.154	T	0.74206	-0.3740	10	0.09590	T	0.72	.	9.876	0.41205	0.0:0.843:0.0:0.157	.	967	Q9ULG1	INO80_HUMAN	F	967	ENSP00000355205:L967F;ENSP00000384686:L967F	ENSP00000355205:L967F	L	-	3	2	INO80	39124400	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.153000	0.31676	1.397000	0.46682	0.462000	0.41574	TTG		0.388	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2		NM_017553		7	29	0	0	0	0.001984	0	7	29		
INO80	54617	broad.mit.edu	37	15	41337203	41337203	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:41337203C>T	ENST00000361937.3	-	24	3230	c.2806G>A	c.(2806-2808)Gaa>Aaa	p.E936K	INO80_ENST00000401393.3_Missense_Mutation_p.E936K			Q9ULG1	INO80_HUMAN	INO80 complex subunit	936	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CTCTCCCCTTCTGGCGCTCCC	0.493																																						uc001zni.2		NaN																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(2806-2808)GAA>AAA		INO80 complex homolog 1							91.0	93.0	92.0					15																	41337203		2203	4300	6503	SO:0001583	missense	54617				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity	g.chr15:41337203C>T	AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.2806G>A	15.37:g.41337203C>T	ENSP00000355205:p.Glu936Lys					INO80_uc010ucu.1_RNA	p.E936K	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN			24	3019	-			936			Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.		A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	37	c.2806G>A	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.917150	0.33815	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.90844	-2.74;-2.74	4.95	2.94	0.34122	.	0.367834	0.31542	N	0.007470	T	0.71169	0.3308	N	0.01352	-0.895	0.39094	D	0.961151	B	0.02656	0.0	B	0.04013	0.001	T	0.66372	-0.5940	10	0.10902	T	0.67	.	10.9343	0.47237	0.0:0.7956:0.1307:0.0737	.	936	Q9ULG1	INO80_HUMAN	K	936	ENSP00000355205:E936K;ENSP00000384686:E936K	ENSP00000355205:E936K	E	-	1	0	INO80	39124495	0.885000	0.30320	1.000000	0.80357	0.984000	0.73092	1.658000	0.37376	1.464000	0.47987	0.561000	0.74099	GAA		0.493	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2		NM_017553		14	49	0	0	0	0.00499	0	14	49		
WDR76	79968	broad.mit.edu	37	15	44127283	44127283	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:44127283G>A	ENST00000263795.6	+	3	557	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K	WDR76_ENST00000381246.2_Missense_Mutation_p.E99K	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN	WD repeat domain 76	163										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		GTCACCCTACGAAAGGAAGAG	0.358																																						uc001zti.1		NaN																	0					0						c.(487-489)GAA>AAA		WD repeat domain 76							119.0	107.0	111.0					15																	44127283		2198	4298	6496	SO:0001583	missense	79968							g.chr15:44127283G>A	AK023035	CCDS10106.1, CCDS53938.1	15q15.3	2013-01-09			ENSG00000092470	ENSG00000092470		"""WD repeat domain containing"""	25773	protein-coding gene	gene with protein product						12860291	Standard	NM_024908		Approved	FLJ12973	uc001zti.2	Q9H967	OTTHUMG00000060143	ENST00000263795.6:c.487G>A	15.37:g.44127283G>A	ENSP00000263795:p.Glu163Lys						p.E163K	NM_024908	NP_079184	Q9H967	WDR76_HUMAN		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)	3	510	+		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)	163					A0MNP5|Q05CI4	Missense_Mutation	SNP	ENST00000263795.6	37	c.487G>A	CCDS10106.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.187748	0.78789	.	.	ENSG00000092470	ENST00000263795;ENST00000381246;ENST00000452115	T;T;T	0.70869	-0.52;-0.52;-0.52	4.65	4.65	0.58169	.	0.051853	0.85682	D	0.000000	D	0.84674	0.5524	M	0.86420	2.815	0.40416	D	0.979797	D	0.89917	1.0	D	0.73380	0.98	D	0.87671	0.2541	10	0.87932	D	0	-21.2138	12.9089	0.58169	0.0:0.0:1.0:0.0	.	163	Q9H967	WDR76_HUMAN	K	163;99;99	ENSP00000263795:E163K;ENSP00000370645:E99K;ENSP00000404665:E99K	ENSP00000263795:E163K	E	+	1	0	WDR76	41914575	1.000000	0.71417	0.995000	0.50966	0.761000	0.43186	5.264000	0.65513	2.412000	0.81896	0.455000	0.32223	GAA		0.358	WDR76-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133482.2		NM_024908		8	28	0	0	0	0.00308	0	8	28		
COPS2	9318	broad.mit.edu	37	15	49437268	49437268	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:49437268G>C	ENST00000388901.5	-	2	135	c.62C>G	c.(61-63)tCt>tGt	p.S21C	COPS2_ENST00000542928.1_Intron|COPS2_ENST00000299259.6_Missense_Mutation_p.S21C	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	21					cell proliferation (GO:0008283)|cullin deneddylation (GO:0010388)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		ACTATCTTCAGAGTATTCCTG	0.348																																					NSCLC(36;322 1063 10349 30082 48062)|Esophageal Squamous(122;685 1633 15569 21293 52803)	uc001zxf.2		NaN																	0				lung(1)	1						c.(61-63)TCT>TGT		COP9 constitutive photomorphogenic homolog							87.0	91.0	90.0					15																	49437268		2196	4294	6490	SO:0001583	missense	9318				cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity	g.chr15:49437268G>C	AF212227	CCDS32235.1, CCDS45257.1	15q21.2	2013-03-14	2013-03-14						30747	protein-coding gene	gene with protein product		604508	"""COP9 constitutive photomorphogenic homolog subunit 2 (Arabidopsis)"""			7776974, 9535219	Standard	NM_004236		Approved	TRIP15, ALIEN, CSN2	uc001zxh.3	P61201		ENST00000388901.5:c.62C>G	15.37:g.49437268G>C	ENSP00000373553:p.Ser21Cys					COPS2_uc001zxh.2_Missense_Mutation_p.S21C|COPS2_uc010ufa.1_Intron	p.S21C	NM_004236	NP_004227	P61201	CSN2_HUMAN		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)	2	141	-		all_lung(180;0.0428)	21					O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Missense_Mutation	SNP	ENST00000388901.5	37	c.62C>G	CCDS32235.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.987138	0.74589	.	.	ENSG00000166200	ENST00000299259;ENST00000388901	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.84714	0.5533	M	0.90483	3.12	0.80722	D	1	P;P	0.52842	0.956;0.88	D;D	0.64237	0.923;0.923	D	0.87137	0.2200	9	0.72032	D	0.01	-7.237	18.1163	0.89556	0.0:0.0:1.0:0.0	.	22;21	Q59EL2;P61201	.;CSN2_HUMAN	C	21	.	ENSP00000299259:S21C	S	-	2	0	COPS2	47224560	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.837000	0.99465	2.715000	0.92844	0.655000	0.94253	TCT		0.348	COPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417840.1		NM_004236		14	41	0	0	0	0.003163	0	14	41		
USP8	9101	broad.mit.edu	37	15	50776527	50776527	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:50776527G>A	ENST00000396444.3	+	12	2197	c.1859G>A	c.(1858-1860)aGa>aAa	p.R620K	USP8_ENST00000433963.1_Missense_Mutation_p.R620K|USP8_ENST00000307179.4_Missense_Mutation_p.R620K|USP8_ENST00000425032.3_Intron	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	620					cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)	p.R620K(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		GGAACTTTTAGAGAGGATACA	0.299																																						uc001zym.3		NaN																	1	Substitution - Missense(1)		skin(1)	lung(1)|central_nervous_system(1)	2						c.(1858-1860)AGA>AAA		ubiquitin specific peptidase 8							60.0	63.0	62.0					15																	50776527		2196	4289	6485	SO:0001583	missense	9101				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr15:50776527G>A	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.1859G>A	15.37:g.50776527G>A	ENSP00000379721:p.Arg620Lys					USP8_uc001zyl.3_Missense_Mutation_p.R620K|USP8_uc001zyn.3_Missense_Mutation_p.R620K|USP8_uc010ufh.1_Intron	p.R620K	NM_001128611	NP_001122083	P40818	UBP8_HUMAN		all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)	13	2359	+			620					B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	ENST00000396444.3	37	c.1859G>A	CCDS10137.1	.	.	.	.	.	.	.	.	.	.	G	9.427	1.084573	0.20309	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179	T;T;T	0.15017	2.46;2.46;2.46	3.67	1.7	0.24286	.	0.570686	0.16990	N	0.191354	T	0.04861	0.0131	N	0.02539	-0.55	0.20307	N	0.999917	B	0.06786	0.001	B	0.01281	0.0	T	0.42682	-0.9437	10	0.06757	T	0.87	.	6.4592	0.21946	0.2344:0.0:0.7656:0.0	.	620	P40818	UBP8_HUMAN	K	620	ENSP00000379721:R620K;ENSP00000405537:R620K;ENSP00000302239:R620K	ENSP00000302239:R620K	R	+	2	0	USP8	48563819	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	0.676000	0.25247	0.664000	0.31047	0.460000	0.39030	AGA		0.299	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1		NM_005154		9	49	0	0	0	0.010729	0	9	49		
DMXL2	23312	broad.mit.edu	37	15	51791720	51791720	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:51791720C>G	ENST00000251076.5	-	18	3988	c.3701G>C	c.(3700-3702)aGa>aCa	p.R1234T	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Intron|DMXL2_ENST00000543779.2_Missense_Mutation_p.R1234T	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1234						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GTCTATAGATCTAAGAAGAAC	0.428																																						uc002abf.2		NaN																	0				ovary(6)|skin(3)	9						c.(3700-3702)AGA>ACA		Dmx-like 2							185.0	159.0	168.0					15																	51791720		2195	4293	6488	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51791720C>G	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.3701G>C	15.37:g.51791720C>G	ENSP00000251076:p.Arg1234Thr					DMXL2_uc010ufy.1_Missense_Mutation_p.R1234T|DMXL2_uc010bfa.2_Intron	p.R1234T	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	18	3926	-			1234					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.3701G>C	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	19.91	3.915025	0.72983	.	.	ENSG00000104093	ENST00000251076;ENST00000543779	T;T	0.33216	1.43;1.42	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.60248	0.2254	M	0.78456	2.415	0.80722	D	1	D;D	0.89917	1.0;0.994	D;D	0.87578	0.998;0.983	T	0.63310	-0.6666	10	0.87932	D	0	.	19.6332	0.95719	0.0:1.0:0.0:0.0	.	1234;1234	F5GWF1;Q8TDJ6	.;DMXL2_HUMAN	T	1234	ENSP00000251076:R1234T;ENSP00000441858:R1234T	ENSP00000251076:R1234T	R	-	2	0	DMXL2	49579012	1.000000	0.71417	0.984000	0.44739	0.992000	0.81027	7.461000	0.80834	2.645000	0.89757	0.591000	0.81541	AGA		0.428	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2		NM_015263		16	40	0	0	0	0.003163	0	16	40		
DMXL2	23312	broad.mit.edu	37	15	51795035	51795035	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:51795035G>A	ENST00000251076.5	-	17	3247	c.2960C>T	c.(2959-2961)tCa>tTa	p.S987L	DMXL2_ENST00000449909.3_Intron|DMXL2_ENST00000543779.2_Missense_Mutation_p.S987L	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	987						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TACTTCAACTGATTCTGGGAG	0.418																																						uc002abf.2		NaN																	0				ovary(6)|skin(3)	9						c.(2959-2961)TCA>TTA		Dmx-like 2							127.0	124.0	125.0					15																	51795035		2195	4293	6488	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51795035G>A	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.2960C>T	15.37:g.51795035G>A	ENSP00000251076:p.Ser987Leu					DMXL2_uc010ufy.1_Missense_Mutation_p.S987L|DMXL2_uc010bfa.2_Intron	p.S987L	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	17	3185	-			987					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.2960C>T	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.390661	0.62066	.	.	ENSG00000104093	ENST00000251076;ENST00000543779	T;T	0.30182	1.54;1.54	5.27	3.35	0.38373	.	0.196255	0.53938	D	0.000049	T	0.19046	0.0457	N	0.08118	0	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.001;0.002	T	0.03662	-1.1015	10	0.87932	D	0	.	16.315	0.82915	0.0:0.8137:0.1863:0.0	.	987;987	F5GWF1;Q8TDJ6	.;DMXL2_HUMAN	L	987	ENSP00000251076:S987L;ENSP00000441858:S987L	ENSP00000251076:S987L	S	-	2	0	DMXL2	49582327	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	3.027000	0.49697	0.581000	0.29539	0.644000	0.83932	TCA		0.418	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2		NM_015263		9	46	0	0	0	0.006214	0	9	46		
RPL4	6124	broad.mit.edu	37	15	66792429	66792429	+	Missense_Mutation	SNP	T	T	C	rs139349583		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:66792429T>C	ENST00000307961.6	-	9	1095	c.1003A>G	c.(1003-1005)Atg>Gtg	p.M335V	SNAPC5_ENST00000566658.1_5'Flank|SNAPC5_ENST00000316634.5_5'Flank|SNAPC5_ENST00000395589.2_5'Flank|SNORD16_ENST00000362803.1_RNA|SNAPC5_ENST00000307979.7_5'Flank|SNORD18C_ENST00000362704.1_RNA|SNORD18B_ENST00000365659.1_RNA|SNAPC5_ENST00000563480.2_5'Flank|RPL4_ENST00000568588.1_Missense_Mutation_p.M241V	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4	335					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						TTCCGGCGCATGGTCTTTGCA	0.448																																						uc002apv.2		NaN																	0					0						c.(1003-1005)ATG>GTG		ribosomal protein L4							94.0	82.0	86.0					15																	66792429		2201	4299	6500	SO:0001583	missense	6124				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr15:66792429T>C	AB007167	CCDS10218.1	15q22	2011-04-06			ENSG00000174444	ENSG00000174444		"""L ribosomal proteins"""	10353	protein-coding gene	gene with protein product	"""60S ribosomal protein L4"""	180479				9582194, 8268230	Standard	NM_000968		Approved	L4	uc002apv.3	P36578	OTTHUMG00000133193	ENST00000307961.6:c.1003A>G	15.37:g.66792429T>C	ENSP00000311430:p.Met335Val					SNAPC5_uc002apu.1_5'Flank|RPL4_uc010bhr.2_Missense_Mutation_p.M241V|RPL4_uc002apw.2_Missense_Mutation_p.M241V|RPL4_uc002apx.2_Missense_Mutation_p.M241V	p.M335V	NM_000968	NP_000959	P36578	RL4_HUMAN			9	1059	-			335					A8K502|P39029|Q4VBR0|Q969Z9	Missense_Mutation	SNP	ENST00000307961.6	37	c.1003A>G	CCDS10218.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.37|14.37	2.516399|2.516399	0.44763|0.44763	.|.	.|.	ENSG00000174444|ENSG00000174444	ENST00000449253|ENST00000307961;ENST00000432669	.|.	.|.	.|.	5.27|5.27	4.16|4.16	0.48862|0.48862	.|.	.|0.158447	.|0.64402	.|D	.|0.000015	T|T	0.40040|0.40040	0.1101|0.1101	L|L	0.39898|0.39898	1.24|1.24	0.32474|0.32474	N|N	0.542457|0.542457	.|B	.|0.14012	.|0.009	.|B	.|0.17098	.|0.017	T|T	0.45041|0.45041	-0.9288|-0.9288	6|9	0.66056|0.30854	D|T	0.02|0.27	-36.2017|-36.2017	7.911|7.911	0.29791|0.29791	0.0:0.1541:0.0:0.8459|0.0:0.1541:0.0:0.8459	.|.	.|335	.|P36578	.|RL4_HUMAN	R|V	134|335	.|.	ENSP00000403183:H134R|ENSP00000311430:M335V	H|M	-|-	2|1	0|0	RPL4|RPL4	64579483|64579483	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.928000|2.928000	0.48908|0.48908	1.994000|1.994000	0.58287|0.58287	0.533000|0.533000	0.62120|0.62120	CAT|ATG		0.448	RPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256903.2		NM_000968		11	31	0	0	0	0.010729	0	11	31		
ANP32A	8125	broad.mit.edu	37	15	69080146	69080146	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:69080146G>A	ENST00000465139.2	-	2	310	c.167C>T	c.(166-168)tCa>tTa	p.S56L	ANP32A_ENST00000483551.2_5'UTR|ANP32A_ENST00000560303.1_Missense_Mutation_p.S56L	NM_006305.3	NP_006296.1	P39687	AN32A_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member A	56					gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA metabolic process (GO:0016071)|nucleocytoplasmic transport (GO:0006913)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(2)	4						GTTTGCGATTGAGGTGAGGCC	0.468																																						uc002arl.2		NaN																	0					0						c.(166-168)TCA>TTA		acidic (leucine-rich) nuclear phosphoprotein 32							139.0	140.0	140.0					15																	69080146		2200	4298	6498	SO:0001583	missense	8125				intracellular signal transduction|mRNA metabolic process|nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm	protein binding	g.chr15:69080146G>A	AF025684	CCDS45292.1	15q23	2008-05-14			ENSG00000140350	ENSG00000140350		"""ANP32 acidic nuclear phosphoproteins"""	13233	protein-coding gene	gene with protein product		600832		C15orf1		8970164, 9144194	Standard	NM_006305		Approved	LANP, PP32, I1PP2A, PHAPI, MAPM, mapmodulin	uc002arl.3	P39687	OTTHUMG00000154502	ENST00000465139.2:c.167C>T	15.37:g.69080146G>A	ENSP00000417864:p.Ser56Leu						p.S56L	NM_006305	NP_006296	P39687	AN32A_HUMAN			2	338	-			56			LRR 2.		B2R6T4|Q53FK4|Q5J8L8|Q7M4N6	Missense_Mutation	SNP	ENST00000465139.2	37	c.167C>T	CCDS45292.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.993086	0.93167	.	.	ENSG00000140350	ENST00000358235;ENST00000465139	T	0.54479	0.57	5.6	5.6	0.85130	.	0.057450	0.64402	D	0.000001	T	0.81791	0.4897	H	0.96239	3.79	0.58432	D	0.999999	D	0.76494	0.999	D	0.70016	0.967	D	0.87435	0.2391	10	0.87932	D	0	.	18.6073	0.91271	0.0:0.0:1.0:0.0	.	56	P39687	AN32A_HUMAN	L	56	ENSP00000417864:S56L	ENSP00000350970:S56L	S	-	2	0	ANP32A	66867200	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.763000	0.85283	2.640000	0.89533	0.655000	0.94253	TCA		0.468	ANP32A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335525.2				13	56	0	0	0	0.013537	0	13	56		
NOX5	79400	broad.mit.edu	37	15	69327745	69327745	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:69327745C>T	ENST00000388866.3	+	6	948	c.907C>T	c.(907-909)Caa>Taa	p.Q303*	NOX5_ENST00000530406.2_Nonsense_Mutation_p.Q275*|NOX5_ENST00000448182.3_Nonsense_Mutation_p.Q257*|RP11-809H16.4_ENST00000559495.1_RNA|NOX5_ENST00000260364.5_Nonsense_Mutation_p.Q285*|NOX5_ENST00000455873.3_Nonsense_Mutation_p.Q268*	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	303	Ferric oxidoreductase.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GTGGCTGGCTCAAGTCCTACC	0.612																																						uc002ars.1		NaN																	0				breast(1)|pancreas(1)	2						c.(907-909)CAA>TAA		NADPH oxidase, EF-hand calcium binding domain 5							72.0	50.0	57.0					15																	69327745		2200	4298	6498	SO:0001587	stop_gained	79400				angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	g.chr15:69327745C>T	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"""EF-hand domain containing"""	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.907C>T	15.37:g.69327745C>T	ENSP00000373518:p.Gln303*					NOX5_uc002arp.1_Nonsense_Mutation_p.Q285*|NOX5_uc002arq.1_Nonsense_Mutation_p.Q257*|NOX5_uc010bid.1_Nonsense_Mutation_p.Q268*|NOX5_uc002arr.1_Nonsense_Mutation_p.Q275*|NOX5_uc010bie.1_Nonsense_Mutation_p.Q103*|NOX5_uc010bif.1_RNA	p.Q303*	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN			6	927	+			303			Ferric oxidoreductase.|Cytoplasmic (Potential).		B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Nonsense_Mutation	SNP	ENST00000388866.3	37	c.907C>T	CCDS32276.2	.	.	.	.	.	.	.	.	.	.	C	20.8	4.050865	0.75960	.	.	ENSG00000255346	ENST00000455873;ENST00000448182;ENST00000388866;ENST00000530406	.	.	.	3.57	2.55	0.30701	.	0.133164	0.45361	D	0.000365	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-11.616	9.5464	0.39284	0.3118:0.6882:0.0:0.0	.	.	.	.	X	268;285;303;275	.	ENSP00000373518:Q303X	Q	+	1	0	NOX5	67114799	0.007000	0.16637	1.000000	0.80357	0.838000	0.47535	0.176000	0.16782	1.537000	0.49254	0.561000	0.74099	CAA		0.612	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2		NM_024505		12	34	0	0	0	0.010729	0	12	34		
THAP10	56906	broad.mit.edu	37	15	71184460	71184460	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:71184460G>C	ENST00000249861.4	-	1	664	c.152C>G	c.(151-153)tCg>tGg	p.S51W	LRRC49_ENST00000443425.2_5'Flank|LRRC49_ENST00000260382.5_5'Flank|LRRC49_ENST00000560369.1_5'Flank|LRRC49_ENST00000544974.2_Intron	NM_020147.3	NP_064532.1	Q9P2Z0	THA10_HUMAN	THAP domain containing 10	51							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|kidney(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GCAGATGACCGAGCGGTCATT	0.637																																						uc002asv.2		NaN																	0				ovary(1)|skin(1)	2						c.(151-153)TCG>TGG		THAP domain containing 10							29.0	35.0	33.0					15																	71184460		2199	4297	6496	SO:0001583	missense	56906						DNA binding|metal ion binding	g.chr15:71184460G>C	AL360202	CCDS10237.1	15q22.32	2013-01-25			ENSG00000129028	ENSG00000129028		"""THAP (C2CH-type zinc finger) domain containing"""	23193	protein-coding gene	gene with protein product		612538				12575992	Standard	NM_020147		Approved		uc002asv.3	Q9P2Z0	OTTHUMG00000133388	ENST00000249861.4:c.152C>G	15.37:g.71184460G>C	ENSP00000249861:p.Ser51Trp					LRRC49_uc002asu.2_Intron|LRRC49_uc002asw.2_5'Flank|LRRC49_uc002asx.2_5'Flank|LRRC49_uc010ukf.1_5'Flank	p.S51W	NM_020147	NP_064532	Q9P2Z0	THA10_HUMAN			1	294	-			51			THAP-type.		B2R8R0	Missense_Mutation	SNP	ENST00000249861.4	37	c.152C>G	CCDS10237.1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.935115	0.52866	.	.	ENSG00000129028	ENST00000249861	D	0.96619	-4.07	2.84	2.84	0.33178	Zinc finger, C2CH-type (4);	.	.	.	.	D	0.97754	0.9263	M	0.85859	2.78	0.21933	N	0.999463	D	0.89917	1.0	D	0.91635	0.999	D	0.92004	0.5613	9	0.52906	T	0.07	.	8.958	0.35829	0.0:0.0:1.0:0.0	.	51	Q9P2Z0	THA10_HUMAN	W	51	ENSP00000249861:S51W	ENSP00000249861:S51W	S	-	2	0	THAP10	68971514	0.687000	0.27671	0.024000	0.17045	0.977000	0.68977	1.141000	0.31528	1.391000	0.46566	0.655000	0.94253	TCG		0.637	THAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257242.2		NM_020147		6	31	0	0	0	0.00308	0	6	31		
CYP11A1	1583	broad.mit.edu	37	15	74640360	74640360	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:74640360G>A	ENST00000268053.6	-	2	460	c.306C>T	c.(304-306)atC>atT	p.I102I	CYP11A1_ENST00000419019.2_Intron|CYP11A1_ENST00000358632.4_5'UTR|CYP11A1_ENST00000541301.1_Silent_p.I102I	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	102					biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	CTTCAGGGTCGATGACATAAA	0.582																																					Esophageal Squamous(87;818 1337 4093 9268 37314)	uc002axt.2		NaN																	0				ovary(2)	2						c.(304-306)ATC>ATT		cytochrome P450, family 11, subfamily A,	Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)						50.0	51.0	50.0					15																	74640360		2197	4296	6493	SO:0001819	synonymous_variant	1583				C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding	g.chr15:74640360G>A	AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"""Cytochrome P450s"""	2590	protein-coding gene	gene with protein product	"""cholesterol monooxygenase (side-chain-cleaving)"""	118485	"""cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"""	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716	ENST00000268053.6:c.306C>T	15.37:g.74640360G>A						CYP11A1_uc002axs.2_5'UTR|CYP11A1_uc010bjm.1_Intron|CYP11A1_uc010bjn.1_RNA|CYP11A1_uc010bjo.1_Silent_p.I102I|CYP11A1_uc010ulj.1_5'UTR|CYP11A1_uc010bjq.2_Silent_p.I102I	p.I102I	NM_000781	NP_000772	P05108	CP11A_HUMAN			2	461	-			102					A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Silent	SNP	ENST00000268053.6	37	c.306C>T	CCDS32291.1																																																																																				0.582	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319737.1				15	31	0	0	0	0.008871	0	15	31		
PEAK1	79834	broad.mit.edu	37	15	77406944	77406944	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:77406944T>G	ENST00000560626.2	-	7	5270	c.4795A>C	c.(4795-4797)Atc>Ctc	p.I1599L	PEAK1_ENST00000312493.4_Missense_Mutation_p.I1599L			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1599	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										ATCTCATAGATGAGGATGCCT	0.547																																						uc002bcm.2		NaN																	0					0						c.(4795-4797)ATC>CTC		NKF3 kinase family member							114.0	113.0	113.0					15																	77406944		1966	4139	6105	SO:0001583	missense	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77406944T>G		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.4795A>C	15.37:g.77406944T>G	ENSP00000452796:p.Ile1599Leu						p.I1599L	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN		STAD - Stomach adenocarcinoma(199;0.124)	6	5103	-			1599			Protein kinase.		Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	ENST00000560626.2	37	c.4795A>C	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.191482	0.78902	.	.	ENSG00000173517	ENST00000312493	T	0.67865	-0.29	5.47	5.47	0.80525	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	U	0.000001	T	0.71492	0.3346	N	0.21240	0.645	0.48511	D	0.999663	D	0.69078	0.997	D	0.80764	0.994	T	0.74074	-0.3782	10	0.49607	T	0.09	-8.2523	15.5531	0.76170	0.0:0.0:0.0:1.0	.	1599	Q9H792	PEAK1_HUMAN	L	1599	ENSP00000309230:I1599L	ENSP00000309230:I1599L	I	-	1	0	AC087465.1	75193999	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.113000	0.64640	2.087000	0.62958	0.459000	0.35465	ATC		0.547	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3				16	28	0	0	0	0.003163	0	16	28		
C15orf26	161502	broad.mit.edu	37	15	81440822	81440822	+	Missense_Mutation	SNP	C	C	G	rs371058800		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:81440822C>G	ENST00000286732.4	+	7	937	c.854C>G	c.(853-855)cCc>cGc	p.P285R		NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26	285										endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						CCCAAACCACCCACAGAGGAC	0.547																																						uc002bgb.2		NaN																	0					0						c.(853-855)CCC>CGC		hypothetical protein LOC161502		C	ARG/PRO	0,4084		0,0,2042	82.0	82.0	82.0		854	-6.1	0.0	15		82	1,8371		0,1,4185	no	missense	C15orf26	NM_173528.2	103	0,1,6227	GG,GC,CC		0.0119,0.0,0.0080	benign	285/302	81440822	1,12455	2042	4186	6228	SO:0001583	missense	161502							g.chr15:81440822C>G	AK095934	CCDS42068.1	15q25.1	2012-09-10			ENSG00000156206	ENSG00000156206			26782	protein-coding gene	gene with protein product						14702039	Standard	NM_173528		Approved	FLJ38615	uc002bgb.3	Q6P656	OTTHUMG00000172263	ENST00000286732.4:c.854C>G	15.37:g.81440822C>G	ENSP00000286732:p.Pro285Arg						p.P285R	NM_173528	NP_775799	Q6P656	CO026_HUMAN			7	881	+			285					Q8N906	Missense_Mutation	SNP	ENST00000286732.4	37	c.854C>G	CCDS42068.1	.	.	.	.	.	.	.	.	.	.	C	6.890	0.533599	0.13188	0.0	1.19E-4	ENSG00000156206	ENST00000286732	T	0.41758	0.99	5.33	-6.11	0.02131	.	2.033620	0.01840	N	0.035249	T	0.23014	0.0556	L	0.31294	0.92	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.15122	-1.0448	10	0.10377	T	0.69	-25.0268	2.1265	0.03740	0.1067:0.2262:0.3148:0.3523	.	285	Q6P656	CO026_HUMAN	R	285	ENSP00000286732:P285R	ENSP00000286732:P285R	P	+	2	0	C15orf26	79227877	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.168000	0.09925	-1.457000	0.01919	-0.793000	0.03317	CCC		0.547	C15orf26-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417587.1		NM_173528		9	50	0	0	0	0.008291	0	9	50		
TMC3	342125	broad.mit.edu	37	15	81636366	81636366	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:81636366G>A	ENST00000359440.5	-	14	1674	c.1539C>T	c.(1537-1539)atC>atT	p.I513I	RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000560973.1_RNA|TMC3_ENST00000558726.1_Silent_p.I514I|RP11-761I4.3_ENST00000559277.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						GCATGTCAATGATGGAGAGCT	0.537																																						uc002bgo.1		NaN																	0				ovary(1)|liver(1)	2						c.(1537-1539)ATC>ATT		transmembrane channel-like 3							62.0	62.0	62.0					15																	81636366		2094	4227	6321	SO:0001819	synonymous_variant	342125					integral to membrane		g.chr15:81636366G>A	AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.1539C>T	15.37:g.81636366G>A						TMC3_uc010blr.1_RNA|TMC3_uc002bgp.2_Silent_p.I513I	p.I513I	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN			14	1539	-			513			Helical; (Potential).			Silent	SNP	ENST00000359440.5	37	c.1539C>T	CCDS45324.1																																																																																				0.537	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3		NM_181841		8	32	0	0	0	0.004482	0	8	32		
AP3B2	8120	broad.mit.edu	37	15	83357579	83357579	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:83357579T>C	ENST00000261722.3	-	4	476	c.269A>G	c.(268-270)aAg>aGg	p.K90R	AP3B2_ENST00000535359.1_Missense_Mutation_p.K90R|AP3B2_ENST00000542200.1_Missense_Mutation_p.K90R|AP3B2_ENST00000535348.1_Intron|AP3B2_ENST00000561455.1_5'UTR|RP11-752G15.3_ENST00000560650.1_RNA	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	90					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GACAAGCTTCTTCACCTTGGG	0.597																																						uc010uoh.1		NaN																	0				ovary(3)|breast(1)|pancreas(1)	5						c.(268-270)AAG>AGG		adaptor-related protein complex 3, beta 2							74.0	77.0	76.0					15																	83357579		2104	4241	6345	SO:0001583	missense	8120				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity	g.chr15:83357579T>C	U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.269A>G	15.37:g.83357579T>C	ENSP00000261722:p.Lys90Arg					AP3B2_uc010uoi.1_Missense_Mutation_p.K90R|AP3B2_uc010uoj.1_Intron|AP3B2_uc010uok.1_Missense_Mutation_p.K90R	p.K90R	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		4	446	-			90					A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Missense_Mutation	SNP	ENST00000261722.3	37	c.269A>G	CCDS45331.1	.	.	.	.	.	.	.	.	.	.	T	19.98	3.926968	0.73327	.	.	ENSG00000103723	ENST00000261722;ENST00000535359;ENST00000541693;ENST00000542200;ENST00000535513	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	5.76	5.76	0.90799	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.102077	0.64402	D	0.000003	T	0.67813	0.2933	L	0.51914	1.62	0.80722	D	1	D;P;P	0.89917	1.0;0.938;0.754	D;P;B	0.91635	0.999;0.889;0.359	T	0.69117	-0.5230	10	0.56958	D	0.05	-32.0693	15.736	0.77842	0.0:0.0:0.0:1.0	.	90;90;90	F5H0E6;B7ZKS0;Q13367	.;.;AP3B2_HUMAN	R	90;90;46;90;90	ENSP00000261722:K90R;ENSP00000440984:K90R;ENSP00000441961:K46R;ENSP00000440719:K90R	ENSP00000261722:K90R	K	-	2	0	AP3B2	81154633	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.911000	0.87458	2.188000	0.69820	0.533000	0.62120	AAG		0.597	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1				3	6	0	0	0	0.009096	0	3	6		
ALPK3	57538	broad.mit.edu	37	15	85402570	85402570	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:85402570C>T	ENST00000258888.5	+	7	4687	c.4520C>T	c.(4519-4521)tCa>tTa	p.S1507L		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1507	Ig-like 2.				heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CTTAGTGACTCAGTCTTGACA	0.572																																						uc002ble.2		NaN																	0				stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12						c.(4519-4521)TCA>TTA		alpha-kinase 3							84.0	72.0	76.0					15																	85402570		2203	4299	6502	SO:0001583	missense	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85402570C>T	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.4520C>T	15.37:g.85402570C>T	ENSP00000258888:p.Ser1507Leu						p.S1507L	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		7	4687	+			1507			Ig-like 2.		Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	37	c.4520C>T	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	C	35	5.438484	0.96168	.	.	ENSG00000136383	ENST00000258888	T	0.39997	1.05	5.35	5.35	0.76521	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.64951	0.2645	M	0.73217	2.22	0.58432	D	0.999996	D	0.89917	1.0	D	0.87578	0.998	T	0.67608	-0.5627	10	0.87932	D	0	-13.1226	16.9141	0.86147	0.0:1.0:0.0:0.0	.	1507	Q96L96	ALPK3_HUMAN	L	1507	ENSP00000258888:S1507L	ENSP00000258888:S1507L	S	+	2	0	ALPK3	83203574	1.000000	0.71417	0.988000	0.46212	0.996000	0.88848	5.614000	0.67695	2.664000	0.90586	0.655000	0.94253	TCA		0.572	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1		NM_020778		4	25	0	0	0	0.009096	0	4	25		
AKAP13	11214	broad.mit.edu	37	15	86087161	86087161	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:86087161C>T	ENST00000394518.2	+	5	732	c.637C>T	c.(637-639)Cac>Tac	p.H213Y	AKAP13_ENST00000361243.2_Missense_Mutation_p.H213Y	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	213					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GCGAGGCTATCACAAGCTGCA	0.587																																					Melanoma(94;603 1453 3280 32295 32951)	uc002blv.1		NaN																	0				central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						c.(637-639)CAC>TAC		A-kinase anchor protein 13 isoform 2							85.0	77.0	80.0					15																	86087161		2202	4299	6501	SO:0001583	missense	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86087161C>T	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.637C>T	15.37:g.86087161C>T	ENSP00000378026:p.His213Tyr					AKAP13_uc002blt.1_Missense_Mutation_p.H213Y|AKAP13_uc002blu.1_Missense_Mutation_p.H213Y	p.H213Y	NM_007200	NP_009131	Q12802	AKP13_HUMAN			5	807	+			213					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.637C>T	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936902	0.73557	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.60171	0.21;0.21	5.62	5.62	0.85841	Ankyrin repeat-containing domain (1);	.	.	.	.	T	0.56992	0.2023	N	0.14661	0.345	0.80722	D	1	D;D	0.65815	0.991;0.995	P;P	0.55161	0.593;0.77	T	0.63422	-0.6641	9	0.66056	D	0.02	.	18.6634	0.91479	0.0:1.0:0.0:0.0	.	213;213	Q12802;Q12802-2	AKP13_HUMAN;.	Y	213;213;212;212	ENSP00000354718:H213Y;ENSP00000378026:H213Y	ENSP00000354718:H213Y	H	+	1	0	AKAP13	83888165	1.000000	0.71417	0.995000	0.50966	0.982000	0.71751	3.847000	0.55895	2.648000	0.89879	0.563000	0.77884	CAC		0.587	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1		NM_007200		12	40	0	0	0	0.00245	0	12	40		
FANCI	55215	broad.mit.edu	37	15	89848417	89848417	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:89848417A>C	ENST00000310775.7	+	29	3216	c.3130A>C	c.(3130-3132)Att>Ctt	p.I1044L	FANCI_ENST00000300027.8_Missense_Mutation_p.I984L	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	1044					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					GAGTCCTGTCATTCTGCTGCG	0.453								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc010bnp.1		NaN																	0				ovary(2)	2						c.(3130-3132)ATT>CTT	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group I isoform							189.0	163.0	172.0					15																	89848417		2200	4299	6499	SO:0001583	missense	55215	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle|DNA repair	nucleoplasm	protein binding	g.chr15:89848417A>C	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"""Fanconi anemia, complementation groups"""	25568	protein-coding gene	gene with protein product		611360	"""KIAA1794"""	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.3130A>C	15.37:g.89848417A>C	ENSP00000310842:p.Ile1044Leu					FANCI_uc002bnm.1_Missense_Mutation_p.I984L|FANCI_uc002bnn.1_RNA|FANCI_uc002bnp.1_Missense_Mutation_p.I805L|FANCI_uc002bnq.1_Missense_Mutation_p.I457L	p.I1044L	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN			29	3220	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		1044					A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Missense_Mutation	SNP	ENST00000310775.7	37	c.3130A>C	CCDS45346.1	.	.	.	.	.	.	.	.	.	.	A	13.46	2.244610	0.39697	.	.	ENSG00000140525	ENST00000300027;ENST00000310775;ENST00000447611	T;T;T	0.68624	-0.34;-0.34;0.35	6.03	0.738	0.18319	.	0.647333	0.17107	N	0.186762	T	0.39226	0.1070	N	0.08118	0	0.09310	N	1	B;B;B	0.15473	0.001;0.013;0.013	B;B;B	0.15052	0.007;0.012;0.012	T	0.16748	-1.0392	10	0.27785	T	0.31	0.8626	5.6279	0.17492	0.5734:0.0:0.3021:0.1245	.	1044;984;984	Q9NVI1;Q9NVI1-2;Q9NVI1-1	FANCI_HUMAN;.;.	L	984;1044;984	ENSP00000300027:I984L;ENSP00000310842:I1044L;ENSP00000413249:I984L	ENSP00000300027:I984L	I	+	1	0	FANCI	87649421	0.000000	0.05858	0.032000	0.17829	0.964000	0.63967	0.161000	0.16481	-0.122000	0.11766	0.455000	0.32223	ATT		0.453	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421140.1		NM_018193		24	58	0	0	0	0.005443	0	24	58		
IQGAP1	8826	broad.mit.edu	37	15	90976974	90976974	+	Silent	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:90976974T>C	ENST00000268182.5	+	5	538	c.414T>C	c.(412-414)gaT>gaC	p.D138D	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	138	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AAACTACAGATATCTATGATC	0.338																																						uc002bpl.1		NaN																	0				ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	8						c.(412-414)GAT>GAC		IQ motif containing GTPase activating protein 1							125.0	125.0	125.0					15																	90976974		2198	4298	6496	SO:0001819	synonymous_variant	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:90976974T>C	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.414T>C	15.37:g.90976974T>C							p.D138D	NM_003870	NP_003861	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		5	515	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		138			CH.		A7MBM3	Silent	SNP	ENST00000268182.5	37	c.414T>C	CCDS10362.1																																																																																				0.338	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1		NM_003870		22	62	0	0	0	0.00333	0	22	62		
LUC7L	55692	broad.mit.edu	37	16	239316	239316	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr16:239316T>C	ENST00000293872.8	-	10	1107	c.997A>G	c.(997-999)Aga>Gga	p.R333G	LUC7L_ENST00000337351.4_3'UTR|LUC7L_ENST00000397783.1_3'UTR	NM_201412.1	NP_958815.1	Q9NQ29	LUC7L_HUMAN	LUC7-like (S. cerevisiae)	333	Arg/Ser-rich.				mRNA splice site selection (GO:0006376)|negative regulation of striated muscle tissue development (GO:0045843)	U1 snRNP (GO:0005685)	identical protein binding (GO:0042802)|mRNA binding (GO:0003729)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	11		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				GACTCCTCTCTGGATGCCCGC	0.647																																						uc002cgc.1		NaN																	0				central_nervous_system(1)	1						c.(997-999)AGA>GGA		LUC7-like isoform b							32.0	36.0	35.0					16																	239316		2203	4300	6503	SO:0001583	missense	55692						metal ion binding	g.chr16:239316T>C	AY005111	CCDS10401.1, CCDS32348.1	16p13.3	2010-01-25	2001-11-28		ENSG00000007392	ENSG00000007392			6723	protein-coding gene	gene with protein product		607782	"""LUC7 (S. cerevisiae)-like"""				Standard	NM_201412		Approved	LUC7B1, hLuc7B1, Luc7	uc002cgc.1	Q9NQ29	OTTHUMG00000060730	ENST00000293872.8:c.997A>G	16.37:g.239316T>C	ENSP00000293872:p.Arg333Gly					LUC7L_uc002cga.1_3'UTR|LUC7L_uc002cgd.1_RNA|LUC7L_uc002cge.1_3'UTR|LUC7L_uc002cgb.1_Missense_Mutation_p.R247G	p.R333G	NM_201412	NP_958815	Q9NQ29	LUC7L_HUMAN			10	1108	-		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)	333			Arg/Ser-rich.		B8ZZ13|Q96S32|Q9NPH4	Missense_Mutation	SNP	ENST00000293872.8	37	c.997A>G	CCDS32348.1	.	.	.	.	.	.	.	.	.	.	T	10.61	1.397352	0.25205	.	.	ENSG00000007392	ENST00000293872;ENST00000429378	T	0.51071	0.72	5.1	3.97	0.46021	.	0.000000	0.85682	D	0.000000	T	0.42630	0.1211	L	0.55481	1.735	0.80722	D	1	B	0.27498	0.18	B	0.24974	0.057	T	0.34030	-0.9845	10	0.59425	D	0.04	.	11.1433	0.48415	0.0:0.0:0.1548:0.8452	.	333	Q9NQ29	LUC7L_HUMAN	G	333;132	ENSP00000413033:R132G	ENSP00000293872:R333G	R	-	1	2	LUC7L	179317	0.998000	0.40836	0.653000	0.29593	0.848000	0.48234	3.475000	0.53136	0.750000	0.32877	0.533000	0.62120	AGA		0.647	LUC7L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134239.1				50	30	0	0	0	0.01441	0	50	30		
IFT140	9742	broad.mit.edu	37	16	1576661	1576661	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr16:1576661C>G	ENST00000426508.2	-	20	2899	c.2536G>C	c.(2536-2538)Gag>Cag	p.E846Q	IFT140_ENST00000361339.5_Missense_Mutation_p.E40Q|TMEM204_ENST00000253934.5_5'Flank	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	846					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				ACGCGGGCCTCTAGCTCCGGC	0.741																																						uc002cmb.2		NaN																	0				ovary(3)|pancreas(1)|skin(1)	5						c.(2536-2538)GAG>CAG		intraflagellar transport 140							9.0	10.0	10.0					16																	1576661		2156	4227	6383	SO:0001583	missense	9742							g.chr16:1576661C>G	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.2536G>C	16.37:g.1576661C>G	ENSP00000406012:p.Glu846Gln					IFT140_uc002clz.2_Intron|TMEM204_uc002cmc.2_5'Flank	p.E846Q	NM_014714	NP_055529	Q96RY7	IF140_HUMAN			20	2898	-		Hepatocellular(780;0.219)	846					A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	c.2536G>C	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.407830	0.62399	.	.	ENSG00000187535	ENST00000397417;ENST00000361339;ENST00000426508	T;T	0.66280	-0.2;-0.2	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.78278	0.4258	M	0.89785	3.06	0.58432	D	0.999999	D	0.65815	0.995	P	0.61275	0.886	T	0.77784	-0.2458	10	0.20046	T	0.44	.	12.3932	0.55370	0.0:0.9195:0.0:0.0805	.	846	Q96RY7	IF140_HUMAN	Q	846;40;846	ENSP00000354895:E40Q;ENSP00000406012:E846Q	ENSP00000354895:E40Q	E	-	1	0	IFT140	1516662	1.000000	0.71417	0.978000	0.43139	0.133000	0.20885	5.948000	0.70249	2.459000	0.83118	0.655000	0.94253	GAG		0.741	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2		NM_014714		5	10	0	0	0	0.001984	0	5	10		
CASKIN1	57524	broad.mit.edu	37	16	2236758	2236758	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr16:2236758C>A	ENST00000343516.6	-	10	1090	c.998G>T	c.(997-999)cGg>cTg	p.R333L	CASKIN1_ENST00000564289.1_5'Flank	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	333	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GTAGCCCACCCGGTCATTGCC	0.677																																						uc010bsg.1		NaN																	0				skin(2)	2						c.(997-999)CGG>CTG		CASK interacting protein 1							36.0	41.0	40.0					16																	2236758		2025	4155	6180	SO:0001583	missense	57524				signal transduction	cytoplasm		g.chr16:2236758C>A	AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.998G>T	16.37:g.2236758C>A	ENSP00000345436:p.Arg333Leu						p.R333L	NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN			10	1030	-			333			SH3.		Q9P2P0	Missense_Mutation	SNP	ENST00000343516.6	37	c.998G>T	CCDS42103.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.675519	0.88445	.	.	ENSG00000167971	ENST00000343516;ENST00000382453	T	0.11063	2.81	4.65	4.65	0.58169	Src homology-3 domain (3);Variant SH3 (1);	.	.	.	.	T	0.34077	0.0885	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.06844	-1.0804	9	0.66056	D	0.02	-15.7396	16.6164	0.84917	0.0:1.0:0.0:0.0	.	333	Q8WXD9	CSKI1_HUMAN	L	333;162	ENSP00000345436:R333L	ENSP00000345436:R333L	R	-	2	0	CASKIN1	2176759	1.000000	0.71417	0.953000	0.39169	0.872000	0.50106	7.543000	0.82106	2.577000	0.86979	0.563000	0.77884	CGG		0.677	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1		NM_020764		19	14	1	0	6.94344e-10	0.006122	7.3892e-10	19	14		
TMEM159	57146	broad.mit.edu	37	16	21172532	21172532	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr16:21172532C>T	ENST00000233047.4	+	2	497	c.29C>T	c.(28-30)tCa>tTa	p.S10L	TMEM159_ENST00000572258.1_Missense_Mutation_p.S10L|TMEM159_ENST00000574092.1_3'UTR|TMEM159_ENST00000451578.2_Missense_Mutation_p.S10L|TMEM159_ENST00000572599.1_Missense_Mutation_p.S10L|DNAH3_ENST00000415178.1_5'Flank|DNAH3_ENST00000261383.3_5'Flank|TMEM159_ENST00000261388.3_Missense_Mutation_p.S10L			Q96B96	TM159_HUMAN	transmembrane protein 159	10						integral component of membrane (GO:0016021)				large_intestine(3)|lung(2)|ovary(1)	6				GBM - Glioblastoma multiforme(48;0.0972)		CAGAGTATCTCAAGGGACTTG	0.448																																						uc002dif.3		NaN																	0				ovary(1)	1						c.(28-30)TCA>TTA		transmembrane protein 159							85.0	86.0	86.0					16																	21172532		2201	4300	6501	SO:0001583	missense	57146					integral to membrane		g.chr16:21172532C>T	AF070596	CCDS10595.1	16p12.2	2008-02-05			ENSG00000011638	ENSG00000011638			30136	protein-coding gene	gene with protein product		611304				8619474, 9110174, 15589683	Standard	NM_020422		Approved	promethin	uc002dif.4	Q96B96	OTTHUMG00000131559	ENST00000233047.4:c.29C>T	16.37:g.21172532C>T	ENSP00000233047:p.Ser10Leu					DNAH3_uc010vbe.1_5'Flank|TMEM159_uc002dig.3_RNA|TMEM159_uc010vbf.1_Missense_Mutation_p.S10L|TMEM159_uc002dih.3_Missense_Mutation_p.S10L	p.S10L	NM_020422	NP_065155	Q96B96	TM159_HUMAN		GBM - Glioblastoma multiforme(48;0.0972)	2	390	+			10					A6NMA9|B4DEC1|O00323	Missense_Mutation	SNP	ENST00000233047.4	37	c.29C>T	CCDS10595.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.428765	0.62844	.	.	ENSG00000011638	ENST00000233047;ENST00000261388;ENST00000451578	T;T;T	0.39056	1.48;1.48;1.1	6.08	5.14	0.70334	.	0.724602	0.12772	N	0.440496	T	0.44052	0.1275	M	0.66939	2.045	0.19575	N	0.999966	B;B	0.27351	0.176;0.103	B;B	0.26094	0.066;0.025	T	0.43702	-0.9375	10	0.87932	D	0	.	11.319	0.49410	0.0:0.917:0.0:0.083	.	10;10	B4DEC1;Q96B96	.;TM159_HUMAN	L	10	ENSP00000233047:S10L;ENSP00000261388:S10L;ENSP00000409879:S10L	ENSP00000233047:S10L	S	+	2	0	TMEM159	21080033	0.951000	0.32395	0.199000	0.23439	0.528000	0.34623	2.601000	0.46249	1.590000	0.49995	0.655000	0.94253	TCA		0.448	TMEM159-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254421.1		NM_020422		24	52	0	0	0	0.005443	0	24	52		
ARHGAP17	55114	broad.mit.edu	37	16	24963676	24963676	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr16:24963676T>C	ENST00000289968.6	-	12	1049	c.980A>G	c.(979-981)tAt>tGt	p.Y327C	ARHGAP17_ENST00000303665.5_Missense_Mutation_p.Y327C|ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000575975.1_5'Flank	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	327	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		TTCCCGTAAATAGGATTTTAA	0.333																																						uc002dnb.2		NaN																	0					0						c.(979-981)TAT>TGT		nadrin isoform 1							87.0	79.0	82.0					16																	24963676		2197	4297	6494	SO:0001583	missense	55114				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding	g.chr16:24963676T>C	AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"""Rho GTPase activating proteins"""	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.980A>G	16.37:g.24963676T>C	ENSP00000289968:p.Tyr327Cys					ARHGAP17_uc002dna.2_Missense_Mutation_p.Y54C|ARHGAP17_uc002dnc.2_Missense_Mutation_p.Y327C|ARHGAP17_uc010vcf.1_Missense_Mutation_p.Y148C|ARHGAP17_uc002dnf.2_Missense_Mutation_p.Y235C	p.Y327C	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN		GBM - Glioblastoma multiforme(48;0.0407)	12	1073	-			327			Rho-GAP.		A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Missense_Mutation	SNP	ENST00000289968.6	37	c.980A>G	CCDS32409.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.046758	0.75846	.	.	ENSG00000140750	ENST00000289968;ENST00000303665;ENST00000455311	T;T	0.30448	1.53;1.53	5.36	5.36	0.76844	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.38605	N	0.001632	T	0.69178	0.3082	H	0.97214	3.96	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.80600	-0.1310	10	0.87932	D	0	.	13.2952	0.60292	0.0:0.0:0.0:1.0	.	327;327;327	C9IZD3;Q68EM7-2;Q68EM7	.;.;RHG17_HUMAN	C	327	ENSP00000289968:Y327C;ENSP00000303130:Y327C	ENSP00000289968:Y327C	Y	-	2	0	ARHGAP17	24871177	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.967000	0.87967	2.023000	0.59567	0.528000	0.53228	TAT		0.333	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3		NM_018054		13	24	0	0	0	0.003163	0	13	24		
IL4R	3566	broad.mit.edu	37	16	27373925	27373925	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr16:27373925G>A	ENST00000395762.2	+	11	1511	c.1252G>A	c.(1252-1254)Gag>Aag	p.E418K	IL4R_ENST00000170630.2_Missense_Mutation_p.E418K|IL4R_ENST00000543915.2_Missense_Mutation_p.E418K|IL4R_ENST00000380922.3_Missense_Mutation_p.E403K	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	418					defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GCTCGGAGAGGAGAATGGGGG	0.597																																						uc002don.2		NaN																	0				ovary(1)|skin(1)	2						c.(1252-1254)GAG>AAG		interleukin 4 receptor alpha chain isoform a							67.0	70.0	69.0					16																	27373925		2197	4300	6497	SO:0001583	missense	3566				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	g.chr16:27373925G>A	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"""Interleukins and interleukin receptors"", ""CD molecules"""	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.1252G>A	16.37:g.27373925G>A	ENSP00000379111:p.Glu418Lys					IL4R_uc002dop.3_Missense_Mutation_p.E403K|IL4R_uc010bxy.2_Missense_Mutation_p.E418K|IL4R_uc002doo.2_Missense_Mutation_p.E258K	p.E418K	NM_000418	NP_000409	P24394	IL4RA_HUMAN			11	1494	+			418			Cytoplasmic (Potential).		B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	ENST00000395762.2	37	c.1252G>A	CCDS10629.1	.	.	.	.	.	.	.	.	.	.	G	19.35	3.810103	0.70797	.	.	ENSG00000077238	ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T	0.19394	2.16;2.16;2.15;2.16	5.42	2.27	0.28462	.	42.369800	0.00166	N	0.000000	T	0.35307	0.0927	M	0.66939	2.045	0.09310	N	1	P;P;P	0.48407	0.91;0.91;0.91	P;P;P	0.45099	0.469;0.469;0.469	T	0.49093	-0.8975	10	0.72032	D	0.01	-16.9379	13.5417	0.61679	0.0:0.521:0.479:0.0	.	403;418;418	B4E076;B9EGC0;P24394	.;.;IL4RA_HUMAN	K	418;418;403;418	ENSP00000379111:E418K;ENSP00000441667:E418K;ENSP00000370309:E403K;ENSP00000170630:E418K	ENSP00000170630:E418K	E	+	1	0	IL4R	27281426	0.009000	0.17119	0.003000	0.11579	0.208000	0.24298	0.297000	0.19101	0.220000	0.20860	0.655000	0.94253	GAG		0.597	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4				10	50	0	0	0	0.010729	0	10	50		
SULT1A2	6799	broad.mit.edu	37	16	28603636	28603636	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr16:28603636G>A	ENST00000395630.1	-	7	1073	c.723C>T	c.(721-723)acC>acT	p.T241T	SULT1A2_ENST00000533150.1_Silent_p.T208T|SULT1A2_ENST00000335715.4_Silent_p.T241T	NM_177528.2	NP_803564	P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	241					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine biosynthetic process (GO:0009309)|catecholamine metabolic process (GO:0006584)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|sulfotransferase activity (GO:0008146)			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						GGCGGACGGTGGTGTAGTTGG	0.592																																						uc002dqg.1		NaN																	0					0						c.(721-723)ACC>ACT		sulfotransferase family, cytosolic, 1A,							218.0	195.0	203.0					16																	28603636		2197	4300	6497	SO:0001819	synonymous_variant	6799				3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity	g.chr16:28603636G>A	U34804	CCDS10636.1	16p12.1	2008-02-05			ENSG00000197165	ENSG00000197165	2.8.2.1	"""Sulfotransferases, cytosolic"""	11454	protein-coding gene	gene with protein product		601292		STP2		8661000, 8912648	Standard	NM_001054		Approved	HAST4	uc002dqh.2	P50226	OTTHUMG00000048082	ENST00000395630.1:c.723C>T	16.37:g.28603636G>A						uc010vct.1_Intron|SULT1A2_uc002dqh.1_Silent_p.T241T	p.T241T	NM_177528	NP_803564	P50226	ST1A2_HUMAN			7	1074	-			241					A9QY25|P78393|Q14CJ7	Silent	SNP	ENST00000395630.1	37	c.723C>T	CCDS10636.1																																																																																				0.592	SULT1A2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109415.2		NM_001054		26	121	0	0	0	0.005443	0	26	121		
PRRT2	112476	broad.mit.edu	37	16	29824989	29824989	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr16:29824989C>T	ENST00000358758.7	+	2	897	c.614C>T	c.(613-615)tCa>tTa	p.S205L	AC009133.14_ENST00000569981.1_RNA|PRRT2_ENST00000567659.1_Missense_Mutation_p.S205L|PAGR1_ENST00000609618.1_5'Flank|PRRT2_ENST00000300797.6_Missense_Mutation_p.S205L|PRRT2_ENST00000567551.1_Intron|PAGR1_ENST00000320330.6_5'Flank|AC009133.20_ENST00000569039.1_RNA	NM_001256442.1|NM_001256443.1|NM_145239.2	NP_001243371.1|NP_001243372.1|NP_660282.2	Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	205	Pro-rich.				neuromuscular process controlling posture (GO:0050884)|response to biotic stimulus (GO:0009607)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						TCACCACCCTCAAAAAAATCC	0.612																																						uc002due.3		NaN																	0					0						c.(613-615)TCA>TTA		proline-rich transmembrane protein 2							12.0	13.0	13.0					16																	29824989		2169	4266	6435	SO:0001583	missense	112476				response to biotic stimulus	integral to membrane		g.chr16:29824989C>T	BC011405	CCDS10654.1, CCDS58445.1, CCDS58446.1	16p11.2	2014-02-03			ENSG00000167371	ENSG00000167371		"""Proline-rich transmembrane proteins"""	30500	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 1"""	614386	"""infantile convulsions and paroxysmal choreoathetosis"""	ICCA		22101681, 22243967	Standard	NM_145239		Approved	FLJ25513, DKFZp547J199, IFITMD1, FICCA	uc002dud.3	Q7Z6L0	OTTHUMG00000177142	ENST00000358758.7:c.614C>T	16.37:g.29824989C>T	ENSP00000351608:p.Ser205Leu					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|uc002duc.1_5'Flank|PRRT2_uc002dud.2_Missense_Mutation_p.S205L|PRRT2_uc002duf.1_Missense_Mutation_p.S205L|C16orf53_uc002dug.3_5'Flank	p.S205L	NM_145239	NP_660282	Q7Z6L0	PRRT2_HUMAN			2	915	+			205			Extracellular (Potential).|Pro-rich.		A8K8M8|Q8N2N8|Q8NAQ7|Q8ND36|Q96FA8	Missense_Mutation	SNP	ENST00000358758.7	37	c.614C>T	CCDS10654.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.696264	0.48202	.	.	ENSG00000167371	ENST00000358758;ENST00000300797	T;T	0.69926	-0.44;0.46	3.7	2.74	0.32292	.	0.328270	0.27609	N	0.018610	T	0.44074	0.1276	N	0.19112	0.55	0.25473	N	0.987801	B;B;B	0.20550	0.046;0.014;0.023	B;B;B	0.20955	0.032;0.007;0.015	T	0.12372	-1.0550	10	0.33940	T	0.23	-9.8412	4.0522	0.09800	0.2354:0.6423:0.0:0.1223	.	205;205;205	Q7Z6L0-3;Q7Z6L0;Q7Z6L0-2	.;PRRT2_HUMAN;.	L	205	ENSP00000351608:S205L;ENSP00000300797:S205L	ENSP00000300797:S205L	S	+	2	0	PRRT2	29732490	0.000000	0.05858	0.839000	0.33178	0.794000	0.44872	0.261000	0.18442	2.081000	0.62600	0.563000	0.77884	TCA		0.612	PRRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255161.3		NM_145239		7	8	0	0	0	0.00308	0	7	8		
PRSS53	339105	broad.mit.edu	37	16	31098143	31098143	+	Missense_Mutation	SNP	C	C	T	rs138969193	byFrequency	TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr16:31098143C>T	ENST00000280606.6	-	4	472	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K		NM_001039503.2	NP_001034592.1	Q2L4Q9	PRS53_HUMAN	protease, serine, 53	107	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			large_intestine(1)|lung(3)	4						CCCACCTCTTCGGCCCCAGGG	0.642													C|||	4	0.000798722	0.003	0.0	5008	,	,		16007	0.0		0.0	False		,,,				2504	0.0					uc002eaq.2		NaN																	0					0						c.(319-321)GAA>AAA		polyserase 3 precursor		C	LYS/GLU	8,4000		0,8,1996	35.0	39.0	37.0		319	3.8	1.0	16	dbSNP_134	37	0,8326		0,0,4163	yes	missense	PRSS53	NM_001039503.2	56	0,8,6159	TT,TC,CC		0.0,0.1996,0.0649	benign	107/554	31098143	8,12326	2004	4163	6167	SO:0001583	missense	339105				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:31098143C>T		CCDS42153.1	16p11.2	2010-05-07			ENSG00000151006	ENSG00000151006		"""Serine peptidases / Serine peptidases"""	34407	protein-coding gene	gene with protein product	"""polyserase 3"""	610561				16566820	Standard	NM_001039503		Approved	POL3S	uc002eaq.3	Q2L4Q9	OTTHUMG00000047358	ENST00000280606.6:c.319G>A	16.37:g.31098143C>T	ENSP00000280606:p.Glu107Lys					PRSS53_uc002ear.2_5'UTR	p.E107K	NM_001039503	NP_001034592	Q2L4Q9	PRS53_HUMAN			4	319	-			107			Peptidase S1 1.			Missense_Mutation	SNP	ENST00000280606.6	37	c.319G>A	CCDS42153.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	C	9.101	1.004217	0.19199	0.001996	0.0	ENSG00000151006	ENST00000280606	D	0.88664	-2.41	5.85	3.81	0.43845	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.206543	0.23481	U	0.047717	T	0.70979	0.3286	L	0.33093	0.98	0.32370	N	0.555943	B	0.18610	0.029	B	0.20384	0.029	T	0.64609	-0.6367	10	0.06236	T	0.91	.	4.4811	0.11767	0.1591:0.6046:0.1535:0.0829	.	107	Q2L4Q9	PRS53_HUMAN	K	107	ENSP00000280606:E107K	ENSP00000280606:E107K	E	-	1	0	PRSS53	31005644	0.227000	0.23707	1.000000	0.80357	0.092000	0.18411	-0.105000	0.10907	2.767000	0.95098	0.655000	0.94253	GAA		0.642	PRSS53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108580.4		NM_001081268		11	56	0	0	0	0.008291	0	11	56		
ITGAM	3684	broad.mit.edu	37	16	31341893	31341893	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr16:31341893G>A	ENST00000287497.8	+	28	3318	c.3243G>A	c.(3241-3243)ctG>ctA	p.L1081L	ITGAM_ENST00000544665.3_Silent_p.L1082L			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	1081					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						TGTTCACCCTGCTGCCGGGAC	0.592																																						uc002ebq.2		NaN																	0				kidney(1)	1						c.(3241-3243)CTG>CTA		integrin alpha M isoform 2 precursor							53.0	51.0	52.0					16																	31341893		1994	4167	6161	SO:0001819	synonymous_variant	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31341893G>A	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.3243G>A	16.37:g.31341893G>A						ITGAM_uc002ebr.2_Silent_p.L1082L|ITGAM_uc010can.2_Silent_p.L487L	p.L1081L	NM_000632	NP_000623	P11215	ITAM_HUMAN			28	3341	+			1081			Extracellular (Potential).		Q4VAK0|Q4VAK1|Q4VAK2	Silent	SNP	ENST00000287497.8	37	c.3243G>A	CCDS45470.1																																																																																				0.592	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1		NM_000632		7	14	0	0	0	0.00308	0	7	14		
ABCC12	94160	broad.mit.edu	37	16	48180326	48180326	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr16:48180326C>T	ENST00000311303.3	-	1	355	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K	ABCC12_ENST00000448542.1_Missense_Mutation_p.E4K|ABCC12_ENST00000416054.1_Missense_Mutation_p.E4K	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	4						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TAGGGTCCTTCACCCACCATC	0.552																																						uc002efc.1		NaN																	0				ovary(2)|skin(1)	3						c.(10-12)GAA>AAA		ATP-binding cassette protein C12							98.0	88.0	92.0					16																	48180326		2201	4300	6501	SO:0001583	missense	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48180326C>T	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.10G>A	16.37:g.48180326C>T	ENSP00000311030:p.Glu4Lys					ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA|ABCC12_uc002efe.1_Missense_Mutation_p.E4K|ABCC12_uc010vgj.1_RNA	p.E4K	NM_033226	NP_150229	Q96J65	MRP9_HUMAN			1	356	-		all_cancers(37;0.0474)|all_lung(18;0.047)	4					Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	c.10G>A	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	C	19.22	3.785136	0.70222	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939;ENST00000416054;ENST00000527640	D;D;D;D	0.93247	-2.85;-3.09;-3.19;-2.64	5.41	5.41	0.78517	.	0.554792	0.18196	N	0.148674	D	0.89701	0.6791	L	0.47716	1.5	0.33270	D	0.560824	P;B	0.39480	0.675;0.361	B;B	0.32864	0.154;0.036	D	0.92947	0.6377	10	0.49607	T	0.09	.	14.6957	0.69121	0.0:1.0:0.0:0.0	.	4;4	Q96J65-2;Q96J65	.;MRP9_HUMAN	K	4	ENSP00000311030:E4K;ENSP00000401855:E4K;ENSP00000413046:E4K;ENSP00000436647:E4K	ENSP00000311030:E4K	E	-	1	0	ABCC12	46737827	0.940000	0.31905	0.997000	0.53966	0.991000	0.79684	3.254000	0.51477	2.499000	0.84300	0.609000	0.83330	GAA		0.552	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1		NM_033226		8	55	0	0	0	0.004482	0	8	55		
ADCY7	113	broad.mit.edu	37	16	50332877	50332877	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr16:50332877C>T	ENST00000394697.2	+	8	1351	c.1011C>T	c.(1009-1011)ccC>ccT	p.P337P	ADCY7_ENST00000538642.1_Silent_p.P337P|ADCY7_ENST00000566433.2_Silent_p.P337P|ADCY7_ENST00000254235.3_Silent_p.P337P|ADCY7_ENST00000564044.1_3'UTR|ADCY7_ENST00000537579.1_Silent_p.P337P			P51828	ADCY7_HUMAN	adenylate cyclase 7	337	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				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 ethanol (GO:0071361)|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)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		CGGGCCTGCCCGTGTCGCTGC	0.637																																						uc002egd.1		NaN																	0				skin(1)	1						c.(1009-1011)CCC>CCT		adenylate cyclase 7	Bromocriptine(DB01200)						99.0	75.0	83.0					16																	50332877		2198	4300	6498	SO:0001819	synonymous_variant	113				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:50332877C>T	D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.1011C>T	16.37:g.50332877C>T						ADCY7_uc002egb.1_Silent_p.P337P|ADCY7_uc002egc.1_Silent_p.P337P	p.P337P	NM_001114	NP_001105	P51828	ADCY7_HUMAN		GBM - Glioblastoma multiforme(240;0.195)	7	1279	+		all_cancers(37;0.0127)	337			Cytoplasmic (Potential).|Guanylate cyclase 1.		A0AVA6	Silent	SNP	ENST00000394697.2	37	c.1011C>T	CCDS10741.1																																																																																				0.637	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3				28	39	0	0	0	0.00632	0	28	39		
BRD7	29117	broad.mit.edu	37	16	50359717	50359717	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr16:50359717C>T	ENST00000394688.3	-	11	1432	c.1273G>A	c.(1273-1275)Gat>Aat	p.D425N	BRD7_ENST00000394689.2_Missense_Mutation_p.D425N			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	425					cell cycle (GO:0007049)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				AAATCAGAATCATCCTTGCTG	0.338																																						uc002egf.1		NaN																	0					0						c.(1273-1275)GAT>AAT		bromodomain containing 7							64.0	63.0	63.0					16																	50359717		2198	4300	6498	SO:0001583	missense	29117				cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr16:50359717C>T	AF213969	CCDS10742.1, CCDS54007.1	16q12.1	2008-11-18	2002-01-14		ENSG00000166164	ENSG00000166164			14310	protein-coding gene	gene with protein product			"""bromodomain-containing 7"""			10526152, 18809673	Standard	NM_013263		Approved	CELTIX1, BP75	uc002ege.2	Q9NPI1	OTTHUMG00000133170	ENST00000394688.3:c.1273G>A	16.37:g.50359717C>T	ENSP00000378180:p.Asp425Asn					BRD7_uc002ege.1_Missense_Mutation_p.D425N	p.D425N	NM_013263	NP_037395	Q9NPI1	BRD7_HUMAN			12	1340	-		all_cancers(37;0.0127)	425					Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	Missense_Mutation	SNP	ENST00000394688.3	37	c.1273G>A	CCDS10742.1	.	.	.	.	.	.	.	.	.	.	C	36	5.807388	0.96967	.	.	ENSG00000166164	ENST00000394688;ENST00000394689	T;T	0.50277	0.75;0.75	5.66	5.66	0.87406	.	0.043901	0.85682	D	0.000000	T	0.68495	0.3007	M	0.75264	2.295	0.80722	D	1	D;D	0.65815	0.995;0.993	P;P	0.61533	0.89;0.824	T	0.71328	-0.4626	10	0.87932	D	0	-25.9894	19.7324	0.96188	0.0:1.0:0.0:0.0	.	425;425	Q9NPI1;Q9NPI1-2	BRD7_HUMAN;.	N	425	ENSP00000378180:D425N;ENSP00000378181:D425N	ENSP00000378180:D425N	D	-	1	0	BRD7	48917218	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.322000	0.79097	2.663000	0.90544	0.655000	0.94253	GAT		0.338	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256874.3		NM_013263		8	32	0	0	0	0.00308	0	8	32		
CNGB1	1258	broad.mit.edu	37	16	57918175	57918175	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr16:57918175C>T	ENST00000251102.8	-	33	3709	c.3649G>A	c.(3649-3651)Gag>Aag	p.E1217K	CNGB1_ENST00000564448.1_Missense_Mutation_p.E1211K	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	1217					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						TCTTCGGGCTCGGCCGGCCCC	0.726																																					Colon(156;1293 1853 16336 28962 38659)	uc002emt.2		NaN																	0				breast(3)|pancreas(1)	4						c.(3649-3651)GAG>AAG		cyclic nucleotide gated channel beta 1 isoform							21.0	24.0	23.0					16																	57918175		1870	4052	5922	SO:0001583	missense	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57918175C>T	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.3649G>A	16.37:g.57918175C>T	ENSP00000251102:p.Glu1217Lys					CNGB1_uc010cdh.2_Missense_Mutation_p.E1211K	p.E1217K	NM_001297	NP_001288	Q14028	CNGB1_HUMAN			33	3714	-			1217			Cytoplasmic (Potential).		H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	37	c.3649G>A	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	C	2.338	-0.351710	0.05173	.	.	ENSG00000070729	ENST00000251102	D	0.96651	-4.08	5.04	-6.08	0.02151	.	2.215120	0.01988	N	0.045298	D	0.90369	0.6986	L	0.29908	0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	D	0.85667	0.1292	10	0.05721	T	0.95	.	7.8504	0.29451	0.0:0.5066:0.2996:0.1938	.	589;1217	Q14028-2;Q14028	.;CNGB1_HUMAN	K	1217	ENSP00000251102:E1217K	ENSP00000251102:E1217K	E	-	1	0	CNGB1	56475676	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.990000	0.03732	-2.236000	0.00713	-2.187000	0.00313	GAG		0.726	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2		NM_001297		34	28	0	0	0	0.003271	0	34	28		
CTCF	10664	broad.mit.edu	37	16	67650746	67650746	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr16:67650746T>C	ENST00000264010.4	+	5	1495	c.1051T>C	c.(1051-1053)Ttc>Ctc	p.F351L	AC009095.4_ENST00000388909.4_RNA|CTCF_ENST00000401394.1_Missense_Mutation_p.F23L	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	351					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		CGAGAAGCCATTCAAGTGTTC	0.468																																					Colon(175;1200 1966 6945 23069 27405)	uc002etl.2		NaN																	0				ovary(1)	1						c.(1051-1053)TTC>CTC		CCCTC-binding factor							332.0	272.0	292.0					16																	67650746		2198	4300	6498	SO:0001583	missense	10664				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:67650746T>C	U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"""Zinc fingers, C2H2-type"""	13723	protein-coding gene	gene with protein product	"""11 zinc finger transcriptional repressor"""	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.1051T>C	16.37:g.67650746T>C	ENSP00000264010:p.Phe351Leu					CTCF_uc010cek.2_Missense_Mutation_p.F23L	p.F351L	NM_006565	NP_006556	P49711	CTCF_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)	5	1341	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	351			C2H2-type 4.		B5MC38|Q53XI7|Q59EL8	Missense_Mutation	SNP	ENST00000264010.4	37	c.1051T>C	CCDS10841.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.997017	0.74818	.	.	ENSG00000102974	ENST00000264010;ENST00000401394	T;T	0.21932	1.98;1.98	5.02	5.02	0.67125	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.162448	0.42821	D	0.000647	T	0.44561	0.1299	M	0.66439	2.03	0.80722	D	1	D	0.57257	0.979	D	0.71414	0.973	T	0.42172	-0.9467	10	0.72032	D	0.01	.	14.9618	0.71161	0.0:0.0:0.0:1.0	.	351	P49711	CTCF_HUMAN	L	351;23	ENSP00000264010:F351L;ENSP00000384707:F23L	ENSP00000264010:F351L	F	+	1	0	CTCF	66208247	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.659000	0.83766	2.119000	0.64992	0.529000	0.55759	TTC		0.468	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2		NM_006565		31	143	0	0	0	0.013726	0	31	143		
CENPT	80152	broad.mit.edu	37	16	67865747	67865747	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr16:67865747G>C	ENST00000562787.1	-	8	981	c.433C>G	c.(433-435)Cca>Gca	p.P145A	CENPT_ENST00000564817.1_Missense_Mutation_p.P145A|CENPT_ENST00000440851.2_Missense_Mutation_p.P145A|CENPT_ENST00000562947.1_5'UTR|CENPT_ENST00000219172.3_Missense_Mutation_p.P145A|CENPT_ENST00000445712.2_Missense_Mutation_p.P42A	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	145	Flexible stalk domain. {ECO:0000250}.				chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		AGCAGACCTGGAGCCAGGGTT	0.582																																						uc002eun.3		NaN																	0					0						c.(433-435)CCA>GCA		centromere protein T							19.0	22.0	21.0					16																	67865747		1934	4121	6055	SO:0001583	missense	80152				mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding	g.chr16:67865747G>C	AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"""chromosome 16 open reading frame 56"""	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3		ENST00000562787.1:c.433C>G	16.37:g.67865747G>C	ENSP00000457810:p.Pro145Ala					CENPT_uc002eum.3_Missense_Mutation_p.P145A|CENPT_uc010vkc.1_5'UTR|CENPT_uc010vkd.1_Intron|CENPT_uc010vke.1_Missense_Mutation_p.P42A	p.P145A	NM_025082	NP_079358	Q96BT3	CENPT_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)	8	982	-		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)	145					Q96I29|Q96IC6|Q96NK9|Q9H901	Missense_Mutation	SNP	ENST00000562787.1	37	c.433C>G	CCDS42182.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.264327	0.39995	.	.	ENSG00000102901	ENST00000440851;ENST00000219172;ENST00000445712	T;T;T	0.50548	0.83;0.83;0.74	6.17	4.17	0.49024	.	0.644741	0.15340	N	0.267564	T	0.46425	0.1392	M	0.64997	1.995	0.09310	N	0.999997	B;B;B	0.27351	0.026;0.176;0.047	B;B;B	0.26202	0.027;0.067;0.067	T	0.33803	-0.9854	10	0.37606	T	0.19	-0.7204	13.3508	0.60601	0.0:0.3027:0.6973:0.0	.	42;145;145	B4DMP9;Q96BT3;B3KPB2	.;CENPT_HUMAN;.	A	145;145;42	ENSP00000400140:P145A;ENSP00000219172:P145A;ENSP00000411594:P42A	ENSP00000219172:P145A	P	-	1	0	CENPT	66423248	0.991000	0.36638	0.347000	0.25668	0.246000	0.25737	1.460000	0.35244	0.890000	0.36211	0.655000	0.94253	CCA		0.582	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422020.1		NM_025082		12	31	0	0	0	0.010729	0	12	31		
NIP7	51388	broad.mit.edu	37	16	69375197	69375197	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr16:69375197G>A	ENST00000254940.5	+	4	797	c.397G>A	c.(397-399)Gtg>Atg	p.V133M	RP11-343C2.9_ENST00000563634.1_Intron|COG8_ENST00000562081.1_5'Flank|RP11-343C2.7_ENST00000564737.1_Intron|COG8_ENST00000306875.4_5'Flank|NIP7_ENST00000254941.6_Intron	NM_016101.4	NP_057185.1	Q9Y221	NIP7_HUMAN	NIP7, nucleolar pre-rRNA processing protein	133	C-terminal domain.|PUA. {ECO:0000255|PROSITE- ProRule:PRU00161}.				ribosome assembly (GO:0042255)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Ovarian(137;0.101)				GGGCGTGGTGGTGTACTCCAT	0.468																																						uc002exa.2		NaN																	0				breast(1)	1						c.(397-399)GTG>ATG		nuclear import 7							98.0	88.0	91.0					16																	69375197		2198	4300	6498	SO:0001583	missense	51388				ribosome assembly	nucleolus	protein binding|RNA binding	g.chr16:69375197G>A	AB112439	CCDS10877.1, CCDS56003.1	16q22.1	2013-03-04	2013-03-04		ENSG00000132603	ENSG00000132603			24328	protein-coding gene	gene with protein product			"""nuclear import 7 homolog (S. cerevisiae)"""			14660641, 22195017	Standard	NM_016101		Approved	CGI-37, FLJ10296, HSPC031, KD93	uc002exa.3	Q9Y221	OTTHUMG00000137568	ENST00000254940.5:c.397G>A	16.37:g.69375197G>A	ENSP00000254940:p.Val133Met					COG8_uc002ewy.2_5'Flank|COG8_uc002ewz.3_5'Flank|NIP7_uc002exb.2_Intron	p.V133M	NM_016101	NP_057185	Q9Y221	NIP7_HUMAN			4	584	+		Ovarian(137;0.101)	133			PUA.		B2RD04|Q9NZZ0	Missense_Mutation	SNP	ENST00000254940.5	37	c.397G>A	CCDS10877.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.040078	0.55003	.	.	ENSG00000132603	ENST00000254940	.	.	.	5.53	5.53	0.82687	Pseudouridine synthase/archaeosine transglycosylase (2);PUA-like domain (1);	0.000000	0.85682	D	0.000000	T	0.77082	0.4078	M	0.90309	3.105	0.80722	D	1	D	0.56035	0.974	P	0.48840	0.592	T	0.82804	-0.0276	9	0.66056	D	0.02	-18.758	19.4703	0.94961	0.0:0.0:1.0:0.0	.	133	Q9Y221	NIP7_HUMAN	M	133	.	ENSP00000254940:V133M	V	+	1	0	NIP7	67932698	1.000000	0.71417	0.992000	0.48379	0.973000	0.67179	9.452000	0.97615	2.600000	0.87896	0.561000	0.74099	GTG		0.468	NIP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268947.2		NM_016101		12	23	0	0	0	0.001855	0	12	23		
TERF2	7014	broad.mit.edu	37	16	69419544	69419544	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr16:69419544G>C	ENST00000254942.3	-	1	347	c.331C>G	c.(331-333)Cgg>Ggg	p.R111G	TERF2_ENST00000603068.1_Missense_Mutation_p.R69G|TERF2_ENST00000569611.2_5'Flank|TERF2_ENST00000567296.2_Missense_Mutation_p.R111G	NM_005652.3	NP_005643.2	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	111	TRFH dimerization.				age-dependent telomere shortening (GO:0001309)|cell cycle (GO:0007049)|cellular senescence (GO:0090398)|in utero embryonic development (GO:0001701)|negative regulation of telomere maintenance (GO:0032205)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|positive regulation of telomere maintenance (GO:0032206)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|telomere capping (GO:0016233)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)|telomeric loop formation (GO:0031627)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|male germ cell nucleus (GO:0001673)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded telomeric DNA binding (GO:0003691)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162)			NS(2)|breast(1)|large_intestine(3)|lung(1)	7		Ovarian(137;0.101)				CGGCTACCCCGAAAGGCCCGC	0.721																																					Ovarian(13;63 524 30420 31710 34037)	uc002exd.2		NaN																	0				lung(1)	1						c.(205-207)CGG>GGG		telomeric repeat binding factor 2							16.0	20.0	19.0					16																	69419544		2196	4291	6487	SO:0001583	missense	7014				age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity	g.chr16:69419544G>C		CCDS10879.1, CCDS10879.2	16q22.1	2008-02-05			ENSG00000132604	ENSG00000132604			11729	protein-coding gene	gene with protein product		602027		TRBF2		9326950, 10226653	Standard	NM_005652		Approved	TRF2	uc002exd.4	Q15554	OTTHUMG00000137566	ENST00000254942.3:c.331C>G	16.37:g.69419544G>C	ENSP00000254942:p.Arg111Gly					TERF2_uc002exe.2_Missense_Mutation_p.R69G	p.R69G	NM_005652	NP_005643	Q15554	TERF2_HUMAN			1	330	-		Ovarian(137;0.101)	69			TRFH dimerization.			Missense_Mutation	SNP	ENST00000254942.3	37	c.205C>G		.	.	.	.	.	.	.	.	.	.	G	11.75	1.732566	0.30684	.	.	ENSG00000132604	ENST00000254942	.	.	.	4.83	1.79	0.24919	Telomere repeat-binding factor, dimerisation domain (4);	0.279367	0.32935	N	0.005467	T	0.55305	0.1912	L	0.32530	0.975	0.53005	D	0.999961	D;D	0.89917	1.0;1.0	D;D	0.85130	0.991;0.997	T	0.53187	-0.8474	9	0.66056	D	0.02	-5.271	5.7636	0.18213	0.172:0.1598:0.6681:0.0	.	69;69	Q15554-2;Q15554	.;TERF2_HUMAN	G	69	.	ENSP00000254942:R69G	R	-	1	2	TERF2	67977045	1.000000	0.71417	0.998000	0.56505	0.962000	0.63368	3.790000	0.55461	0.242000	0.21303	-0.182000	0.12963	CGG		0.721	TERF2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000268944.2				3	23	0	0	0	0.009096	0	3	23		
USP10	9100	broad.mit.edu	37	16	84778354	84778354	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr16:84778354A>G	ENST00000219473.7	+	4	380	c.267A>G	c.(265-267)gaA>gaG	p.E89E	USP10_ENST00000570191.1_Silent_p.E93E|USP10_ENST00000562743.1_3'UTR	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	89	Interaction with p53/TP53.				autophagy (GO:0006914)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA repair (GO:0006281)|protein deubiquitination (GO:0016579)|regulation of autophagy (GO:0010506)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						AGGCCCCTGAATTTATTCTCG	0.493																																						uc002fii.2		NaN																	0					0						c.(265-267)GAA>GAG		ubiquitin specific protease 10							64.0	64.0	64.0					16																	84778354		1832	4079	5911	SO:0001819	synonymous_variant	9100				DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:84778354A>G	D80012	CCDS45537.1, CCDS62004.1	16q	2008-03-25	2005-08-08			ENSG00000103194		"""Ubiquitin-specific peptidases"""	12608	protein-coding gene	gene with protein product		609818	"""ubiquitin specific protease 10"""			12838346	Standard	NM_005153		Approved	UBPO, KIAA0190	uc002fii.3	Q14694		ENST00000219473.7:c.267A>G	16.37:g.84778354A>G						USP10_uc010voe.1_Silent_p.E93E|USP10_uc010vof.1_Intron|USP10_uc002fij.2_5'UTR	p.E89E	NM_005153	NP_005144	Q14694	UBP10_HUMAN			4	409	+			89			Interaction with p53/TP53.		B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Silent	SNP	ENST00000219473.7	37	c.267A>G	CCDS45537.1																																																																																				0.493	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433660.1				31	47	0	0	0	0.013726	0	31	47		
APRT	353	broad.mit.edu	37	16	88877971	88877971	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr16:88877971G>A	ENST00000378364.3	-	2	218	c.174C>T	c.(172-174)atC>atT	p.I58I	APRT_ENST00000563655.1_Silent_p.I58I|APRT_ENST00000426324.2_Silent_p.I58I	NM_000485.2	NP_000476.1	P07741	APT_HUMAN	adenine phosphoribosyltransferase	58					adenine salvage (GO:0006168)|AMP salvage (GO:0044209)|cellular response to insulin stimulus (GO:0032869)|grooming behavior (GO:0007625)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	adenine binding (GO:0002055)|adenine phosphoribosyltransferase activity (GO:0003999)|AMP binding (GO:0016208)			cervix(1)|endometrium(1)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(80;0.0477)	Adenine(DB00173)|Adenosine monophosphate(DB00131)	CGATGTAGTCGATGCGGCCCC	0.721																																						uc002flv.2		NaN																	0					0						c.(172-174)ATC>ATT		adenine phosphoribosyltransferase isoform a	Adenine(DB00173)|Adenosine monophosphate(DB00131)						8.0	8.0	8.0					16																	88877971		2120	4174	6294	SO:0001819	synonymous_variant	353				purine ribonucleoside salvage	cytosol|nucleus	adenine phosphoribosyltransferase activity|AMP binding|protein binding	g.chr16:88877971G>A		CCDS32511.1, CCDS45546.1	16q24	2012-10-02				ENSG00000198931	2.4.2.7		626	protein-coding gene	gene with protein product		102600					Standard	NM_000485		Approved		uc002flv.3	P07741		ENST00000378364.3:c.174C>T	16.37:g.88877971G>A						APRT_uc002flw.2_Silent_p.I58I	p.I58I	NM_000485	NP_000476	P07741	APT_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0477)	2	209	-			58					G5E9J2|Q3KP55|Q68DF9	Silent	SNP	ENST00000378364.3	37	c.174C>T	CCDS32511.1																																																																																				0.721	APRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430000.2		NM_000485		4	7	0	0	0	0.001168	0	4	7		
MED11	400569	broad.mit.edu	37	17	4635097	4635097	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:4635097G>A	ENST00000293777.5	+	2	168	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	CXCL16_ENST00000576153.1_5'Flank|MED11_ENST00000573708.1_Missense_Mutation_p.E38K|RP11-314A20.5_ENST00000570493.2_RNA|MED11_ENST00000575284.1_Missense_Mutation_p.E38K	NM_001001683.2	NP_001001683.1	Q9P086	MED11_HUMAN	mediator complex subunit 11	38						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			lung(2)|ovary(2)	4						ATTGTCCAAGGAAAAAACTAA	0.617											OREG0024104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002fyp.2		NaN																	0					0						c.(112-114)GAA>AAA		mediator complex subunit 11							45.0	52.0	50.0					17																	4635097		2203	4300	6503	SO:0001583	missense	400569				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	protein binding	g.chr17:4635097G>A	AF161414	CCDS32533.1	17p13.2	2007-07-30	2007-07-30			ENSG00000161920			32687	protein-coding gene	gene with protein product		612383	"""mediator of RNA polymerase II transcription, subunit 11 homolog (S. cerevisiae)"""			15175163, 12584197	Standard	NM_001001683		Approved	HSPC296, MGC88387	uc002fyp.3	Q9P086		ENST00000293777.5:c.112G>A	17.37:g.4635097G>A	ENSP00000293777:p.Glu38Lys		OREG0024104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	620		p.E38K	NM_001001683	NP_001001683	Q9P086	MED11_HUMAN			2	174	+			38					Q6NS89	Missense_Mutation	SNP	ENST00000293777.5	37	c.112G>A	CCDS32533.1	.	.	.	.	.	.	.	.	.	.	G	37	6.103592	0.97286	.	.	ENSG00000161920	ENST00000293777	.	.	.	5.85	5.85	0.93711	.	0.060395	0.64402	D	0.000006	T	0.60843	0.2300	L	0.58810	1.83	0.80722	D	1	P	0.42078	0.77	B	0.42827	0.399	T	0.64694	-0.6347	9	0.72032	D	0.01	-2.4335	17.6513	0.88164	0.0:0.0:1.0:0.0	.	38	Q9P086	MED11_HUMAN	K	38	.	ENSP00000293777:E38K	E	+	1	0	MED11	4581846	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	7.656000	0.83736	2.763000	0.94921	0.655000	0.94253	GAA		0.617	MED11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439574.1		NM_001001683		12	18	0	0	0	0.00245	0	12	18		
SLC16A13	201232	broad.mit.edu	37	17	6941694	6941694	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:6941694C>T	ENST00000308027.6	+	3	875	c.567C>T	c.(565-567)ctC>ctT	p.L189L		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	189						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						GTGCTCTCCTCCGCCCACCCT	0.657																																						uc002geh.2		NaN																	0				ovary(1)|skin(1)	2						c.(565-567)CTC>CTT		monocarboxylate transporter 13							85.0	82.0	83.0					17																	6941694		2203	4300	6503	SO:0001819	synonymous_variant	201232					integral to membrane|plasma membrane	symporter activity	g.chr17:6941694C>T	BN000145	CCDS11085.1	17p13.1	2013-07-18	2013-07-18		ENSG00000174327	ENSG00000174327		"""Solute carriers"""	31037	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 13"""		"""solute carrier family 16 (monocarboxylic acid transporters), member 13"""				Standard	NM_201566		Approved	MCT13	uc002geh.3	Q7RTY0	OTTHUMG00000102089	ENST00000308027.6:c.567C>T	17.37:g.6941694C>T							p.L189L	NM_201566	NP_963860	Q7RTY0	MOT13_HUMAN			3	875	+			189			Helical; (Potential).		A3KMG3|A5PKU5|Q2VP92	Silent	SNP	ENST00000308027.6	37	c.567C>T	CCDS11085.1																																																																																				0.657	SLC16A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219923.2				32	44	0	0	0	0.012213	0	32	44		
SLC2A4	6517	broad.mit.edu	37	17	7187317	7187317	+	Missense_Mutation	SNP	T	T	C	rs572587255		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:7187317T>C	ENST00000317370.8	+	5	741	c.473T>C	c.(472-474)aTg>aCg	p.M158T	RP1-4G17.2_ENST00000576271.1_RNA|SLC2A4_ENST00000571308.1_Missense_Mutation_p.M158T|SLC2A4_ENST00000424875.2_Missense_Mutation_p.M148T	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	158					amylopectin biosynthetic process (GO:0010021)|brown fat cell differentiation (GO:0050873)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|cellular response to osmotic stress (GO:0071470)|glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|membrane organization (GO:0061024)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|endomembrane system (GO:0012505)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|insulin-responsive compartment (GO:0032593)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|trans-Golgi network transport vesicle (GO:0030140)|vesicle membrane (GO:0012506)	D-glucose transmembrane transporter activity (GO:0055056)|glucose transmembrane transporter activity (GO:0005355)			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						CTGGTGCCCATGTACGTGGGG	0.612													T|||	1	0.000199681	0.0	0.0	5008	,	,		19584	0.001		0.0	False		,,,				2504	0.0					uc002gfp.2		NaN																	0					0						c.(472-474)ATG>ACG		glucose transporter 4							32.0	31.0	31.0					17																	7187317		2203	4300	6503	SO:0001583	missense	6517				carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding	g.chr17:7187317T>C	M20747	CCDS11097.1	17p13	2013-05-22			ENSG00000181856	ENSG00000181856		"""Solute carriers"""	11009	protein-coding gene	gene with protein product		138190		GLUT4			Standard	NM_001042		Approved		uc002gfp.3	P14672	OTTHUMG00000102181	ENST00000317370.8:c.473T>C	17.37:g.7187317T>C	ENSP00000320935:p.Met158Thr					SLC2A4_uc002gfo.2_Missense_Mutation_p.M158T|SLC2A4_uc010cmd.2_RNA	p.M158T	NM_001042	NP_001033	P14672	GTR4_HUMAN			5	673	+			158			Helical; Name=4; (Potential).		Q05BQ3|Q14CX2	Missense_Mutation	SNP	ENST00000317370.8	37	c.473T>C	CCDS11097.1	.	.	.	.	.	.	.	.	.	.	T	18.85	3.711002	0.68730	.	.	ENSG00000181856	ENST00000317370;ENST00000424875	T;T	0.75704	-0.96;-0.96	5.76	5.76	0.90799	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.82476	0.5045	M	0.75884	2.315	0.58432	D	0.999999	P;D	0.56746	0.951;0.977	P;P	0.56127	0.792;0.688	D	0.84648	0.0699	10	0.66056	D	0.02	.	14.0143	0.64515	0.0:0.0:0.0:1.0	.	158;148	P14672;F5H081	GTR4_HUMAN;.	T	158;148	ENSP00000320935:M158T;ENSP00000396887:M148T	ENSP00000320935:M158T	M	+	2	0	SLC2A4	7128041	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	4.266000	0.58871	2.197000	0.70478	0.533000	0.62120	ATG		0.612	SLC2A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220031.3				10	14	0	0	0	0.006214	0	10	14		
C17orf74	201243	broad.mit.edu	37	17	7329872	7329872	+	Nonsense_Mutation	SNP	G	G	T	rs548937143		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:7329872G>T	ENST00000333870.3	+	3	636	c.562G>T	c.(562-564)Gag>Tag	p.E188*	RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_Missense_Mutation_p.G75V	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	188						integral component of membrane (GO:0016021)				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				CCTGGAGGAGGAGGACAACCT	0.592																																						uc002ggw.2		NaN																	0					0						c.(562-564)GAG>TAG		hypothetical protein LOC201243							137.0	143.0	141.0					17																	7329872		2009	4153	6162	SO:0001587	stop_gained	201243					integral to membrane		g.chr17:7329872G>T	BC044816	CCDS42255.1	17p13.1	2012-05-30			ENSG00000184560	ENSG00000184560			27315	protein-coding gene	gene with protein product						12477932	Standard	NM_175734		Approved		uc002ggw.3	Q0P670	OTTHUMG00000178190	ENST00000333870.3:c.562G>T	17.37:g.7329872G>T	ENSP00000328061:p.Glu188*					FGF11_uc010vtw.1_Intron	p.E188*	NM_175734	NP_783861	Q0P670	CQ074_HUMAN			3	635	+		Prostate(122;0.157)	188						Nonsense_Mutation	SNP	ENST00000333870.3	37	c.562G>T	CCDS42255.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.833494	0.32421	.	.	ENSG00000184560	ENST00000333870	.	.	.	3.4	-3.27	0.05048	.	1.591500	0.04181	N	0.326484	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-7.8071	2.5532	0.04754	0.0979:0.2711:0.3626:0.2684	.	.	.	.	X	188	.	ENSP00000328061:E188X	E	+	1	0	C17orf74	7270596	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.079000	0.11357	-0.746000	0.04766	-1.961000	0.00478	GAG		0.592	C17orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440933.2		NM_175734		54	69	1	0	9.72345e-25	0.01441	1.05429e-24	54	69		
TP53	7157	broad.mit.edu	37	17	7578269	7578269	+	Missense_Mutation	SNP	G	G	A	rs587780071		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:7578269G>A	ENST00000269305.4	-	6	769	c.580C>T	c.(580-582)Ctt>Ttt	p.L194F	TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.L194F|TP53_ENST00000413465.2_Missense_Mutation_p.L194F|TP53_ENST00000420246.2_Missense_Mutation_p.L194F|TP53_ENST00000455263.2_Missense_Mutation_p.L194F|TP53_ENST00000445888.2_Missense_Mutation_p.L194F	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	194	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763}.|L -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.L194F(17)|p.0?(8)|p.?(6)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.L194fs*15(2)|p.A189fs*53(1)|p.L194V(1)|p.L194I(1)|p.P191fs*6(1)|p.P98_E105>Q(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.H193_I195>AP(1)|p.L194fs*52(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ACTCGGATAAGATGCTGAGGA	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		51	Substitution - Missense(19)|Whole gene deletion(8)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Deletion - Frameshift(4)|Insertion - Frameshift(2)|Complex - frameshift(1)	p.L194R(31)|p.L194F(16)|p.L194P(8)|p.0?(7)|p.L194H(5)|p.L194L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191fs*53(2)|p.L194fs*15(2)|p.K164_P219del(1)|p.L194fs*14(1)|p.A189fs*53(1)|p.L194V(1)|p.L194I(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.H193_I195>AP(1)|p.L194fs*52(1)	breast(8)|biliary_tract(6)|skin(6)|stomach(5)|large_intestine(4)|ovary(4)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|urinary_tract(3)|central_nervous_system(2)|oesophagus(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(580-582)CTT>TTT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							96.0	86.0	90.0					17																	7578269		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578269G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.580C>T	17.37:g.7578269G>A	ENSP00000269305:p.Leu194Phe	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.L194F|TP53_uc002gih.2_Missense_Mutation_p.L194F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.L62F|TP53_uc010cng.1_Missense_Mutation_p.L62F|TP53_uc002gii.1_Missense_Mutation_p.L62F|TP53_uc010cnh.1_Missense_Mutation_p.L194F|TP53_uc010cni.1_Missense_Mutation_p.L194F|TP53_uc002gij.2_Missense_Mutation_p.L194F|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.L101F|TP53_uc002gio.2_Missense_Mutation_p.L62F|TP53_uc010vug.1_Missense_Mutation_p.L155F	p.L194F	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	774	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	194		L -> H (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> F (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.580C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.893556	0.52121	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99851	-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17	5.41	4.44	0.53790	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99768	0.9905	M	0.65975	2.015	0.80722	D	1	D;D;B;D;D;D;D	0.89917	0.974;1.0;0.411;1.0;1.0;1.0;1.0	P;D;B;D;D;D;D	0.97110	0.905;1.0;0.415;0.999;1.0;1.0;1.0	D	0.96926	0.9677	10	0.87932	D	0	-29.6709	12.4639	0.55747	0.0821:0.0:0.9179:0.0	.	155;194;194;101;194;194;194	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	194;194;194;194;194;194;183;101;62;101;62	ENSP00000410739:L194F;ENSP00000352610:L194F;ENSP00000269305:L194F;ENSP00000398846:L194F;ENSP00000391127:L194F;ENSP00000391478:L194F;ENSP00000425104:L62F;ENSP00000423862:L101F	ENSP00000269305:L194F	L	-	1	0	TP53	7518994	1.000000	0.71417	0.295000	0.24960	0.028000	0.11728	7.965000	0.87945	1.422000	0.47177	0.655000	0.94253	CTT		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		13	18	0	0	0	0.00245	0	13	18		
TMEM220	388335	broad.mit.edu	37	17	10628432	10628432	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:10628432A>G	ENST00000341871.3	-	4	647	c.183T>C	c.(181-183)agT>agC	p.S61S	TMEM220_ENST00000578345.1_Silent_p.S51S|TMEM220_ENST00000455996.2_Silent_p.S51S|TMEM220_ENST00000580186.1_5'UTR	NM_001004313.1	NP_001004313.1	Q6QAJ8	TM220_HUMAN	transmembrane protein 220	61						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|lung(1)|prostate(2)	5						TTGCAGAGATACTTTTCCAAA	0.388																																						uc002gmx.2		NaN																	0					0						c.(181-183)AGT>AGC		transmembrane protein 220							142.0	123.0	129.0					17																	10628432		2203	4300	6503	SO:0001819	synonymous_variant	388335					integral to membrane		g.chr17:10628432A>G		CCDS32567.1	17p13.1	2008-08-08			ENSG00000187824	ENSG00000187824			33757	protein-coding gene	gene with protein product							Standard	NM_001004313		Approved		uc002gmx.3	Q6QAJ8		ENST00000341871.3:c.183T>C	17.37:g.10628432A>G						TMEM220_uc002gmy.2_Silent_p.S51S	p.S61S	NM_001004313	NP_001004313	Q6QAJ8	TM220_HUMAN			4	661	-			61					A1YRJ4|B2RNE4|B4DJ52|B9EGW3	Silent	SNP	ENST00000341871.3	37	c.183T>C	CCDS32567.1																																																																																				0.388	TMEM220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440333.1		NM_001004313		12	16	0	0	0	0.013537	0	12	16		
SREBF1	6720	broad.mit.edu	37	17	17716923	17716923	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:17716923A>G	ENST00000261646.5	-	17	3246	c.3062T>C	c.(3061-3063)cTg>cCg	p.L1021P	SREBF1_ENST00000338854.5_Missense_Mutation_p.L1021P|MIR33B_ENST00000385104.1_RNA|SREBF1_ENST00000395757.1_Missense_Mutation_p.L767P|SREBF1_ENST00000355815.4_Missense_Mutation_p.L1051P	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	1021					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						CAGCCGCCTCAGGCTGCTCAG	0.711																																						uc002gru.1		NaN																	0				skin(1)	1						c.(3061-3063)CTG>CCG		sterol regulatory element binding transcription							7.0	9.0	8.0					17																	17716923		2143	4240	6383	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.chr17:17716923A>G	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.3062T>C	17.37:g.17716923A>G	ENSP00000261646:p.Leu1021Pro					SREBF1_uc002gro.3_5'Flank|SREBF1_uc002grp.1_Missense_Mutation_p.L640P|SREBF1_uc002grq.1_Missense_Mutation_p.L540P|SREBF1_uc002grr.1_Missense_Mutation_p.L767P|SREBF1_uc002grs.1_Missense_Mutation_p.L997P|SREBF1_uc002grt.1_Missense_Mutation_p.L1051P	p.L1021P	NM_004176	NP_004167	P36956	SRBP1_HUMAN			17	3256	-			1021			Cytoplasmic (Potential).		B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Missense_Mutation	SNP	ENST00000261646.5	37	c.3062T>C	CCDS11189.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.053515	0.75960	.	.	ENSG00000072310	ENST00000338854;ENST00000355815;ENST00000261646;ENST00000395757;ENST00000395756;ENST00000418712;ENST00000423161	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	5.14	5.14	0.70334	.	0.179093	0.36101	N	0.002800	T	0.72700	0.3493	M	0.86420	2.815	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.961;0.988;0.998	T	0.78797	-0.2063	10	0.87932	D	0	-14.8625	15.249	0.73529	1.0:0.0:0.0:0.0	.	1021;1051;640	P36956;P36956-4;A8MTU8	SRBP1_HUMAN;.;.	P	1021;1051;1021;767;640;858;947	ENSP00000345822:L1021P;ENSP00000348069:L1051P;ENSP00000261646:L1021P;ENSP00000379106:L767P	ENSP00000261646:L1021P	L	-	2	0	SREBF1	17657648	1.000000	0.71417	0.951000	0.38953	0.448000	0.32197	7.258000	0.78371	2.077000	0.62373	0.459000	0.35465	CTG		0.711	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131771.1		NM_004176		2	5	0	0	0	0.004672	0	2	5		
ULK2	9706	broad.mit.edu	37	17	19705182	19705182	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:19705182C>G	ENST00000395544.4	-	16	1848	c.1349G>C	c.(1348-1350)gGa>gCa	p.G450A	ULK2_ENST00000361658.2_Missense_Mutation_p.G450A|ULK2_ENST00000580130.1_5'UTR	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	450					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|negative regulation of collateral sprouting (GO:0048671)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)|response to starvation (GO:0042594)|signal transduction (GO:0007165)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|pre-autophagosomal structure membrane (GO:0034045)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					GGAGCATGATCCCGGCCGGAG	0.507																																						uc002gwm.3		NaN																	0				skin(2)|large_intestine(1)|stomach(1)	4						c.(1348-1350)GGA>GCA		unc-51-like kinase 2							185.0	186.0	186.0					17																	19705182		2203	4300	6503	SO:0001583	missense	9706				signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:19705182C>G	AB014523	CCDS11213.1	17p11.2	2014-02-12	2013-07-02		ENSG00000083290	ENSG00000083290	2.7.11.1		13480	protein-coding gene	gene with protein product		608650	"""unc-51 (C. elegans)-like kinase 2"", ""unc-51-like kinase 2 (C. elegans)"""			10557072	Standard	NM_014683		Approved	KIAA0623, Unc51.2, ATG1B	uc002gwn.3	Q8IYT8	OTTHUMG00000059511	ENST00000395544.4:c.1349G>C	17.37:g.19705182C>G	ENSP00000378914:p.Gly450Ala					ULK2_uc002gwn.2_Missense_Mutation_p.G450A	p.G450A	NM_001142610	NP_001136082	Q8IYT8	ULK2_HUMAN			16	1858	-	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)		450					A8MY69|O75119	Missense_Mutation	SNP	ENST00000395544.4	37	c.1349G>C	CCDS11213.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.253890	0.59212	.	.	ENSG00000083290	ENST00000361658;ENST00000395544	T;T	0.56941	0.43;0.43	6.02	6.02	0.97574	.	0.050227	0.85682	D	0.000000	T	0.54935	0.1889	M	0.64997	1.995	0.51482	D	0.999923	P	0.48294	0.908	B	0.44224	0.444	T	0.49542	-0.8929	10	0.14656	T	0.56	-8.5346	19.5289	0.95219	0.0:1.0:0.0:0.0	.	450	Q8IYT8	ULK2_HUMAN	A	450	ENSP00000354877:G450A;ENSP00000378914:G450A	ENSP00000354877:G450A	G	-	2	0	ULK2	19645774	1.000000	0.71417	0.996000	0.52242	0.955000	0.61496	3.536000	0.53582	2.865000	0.98341	0.655000	0.94253	GGA		0.507	ULK2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132375.2		NM_014683		73	83	0	0	0	0.01441	0	73	83		
MYO18A	399687	broad.mit.edu	37	17	27493277	27493277	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:27493277T>C	ENST00000527372.1	-	2	862	c.682A>G	c.(682-684)Act>Gct	p.T228A	MYO18A_ENST00000533112.1_Missense_Mutation_p.T228A|MYO18A_ENST00000531253.1_Missense_Mutation_p.T228A|MYO18A_ENST00000354329.4_Missense_Mutation_p.T228A	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	228	Mediates nucleotide-independent binding to F-actin and interaction with GOLPH3.|PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			AAGTCTCCAGTGGGCCGTCGT	0.667																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	uc002hdt.1		NaN																	0					0						c.(682-684)ACT>GCT		myosin 18A isoform a							38.0	45.0	43.0					17																	27493277		1958	4131	6089	SO:0001583	missense	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27493277T>C	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.682A>G	17.37:g.27493277T>C	ENSP00000437073:p.Thr228Ala					MYO18A_uc010csa.1_Missense_Mutation_p.T228A|MYO18A_uc002hdu.1_Missense_Mutation_p.T228A	p.T228A	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		2	840	-			228			PDZ.		Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	c.682A>G	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	T	17.70	3.453452	0.63290	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372	T;T;T;T	0.27256	1.68;1.68;1.68;1.68	5.21	5.21	0.72293	PDZ/DHR/GLGF (3);	0.000000	0.85682	D	0.000000	T	0.38904	0.1058	L	0.40543	1.245	0.53005	D	0.999968	D;D;D	0.76494	0.998;0.998;0.999	D;D;D	0.83275	0.994;0.994;0.996	T	0.07927	-1.0747	10	0.10902	T	0.67	.	15.254	0.73571	0.0:0.0:0.0:1.0	.	228;228;228	Q92614-3;Q92614-4;Q92614	.;.;MY18A_HUMAN	A	228	ENSP00000346291:T228A;ENSP00000435932:T228A;ENSP00000434228:T228A;ENSP00000437073:T228A	ENSP00000346291:T228A	T	-	1	0	MYO18A	24517403	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.386000	0.79775	2.193000	0.70182	0.460000	0.39030	ACT		0.667	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1		NM_078471		32	56	0	0	0	0.013726	0	32	56		
NF1	4763	broad.mit.edu	37	17	29679408	29679408	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:29679408C>T	ENST00000358273.4	+	51	7974	c.7591C>T	c.(7591-7593)Cag>Tag	p.Q2531*	NF1_ENST00000417592.2_Intron|NF1_ENST00000444181.2_Nonsense_Mutation_p.Q324*|NF1_ENST00000356175.3_Nonsense_Mutation_p.Q2510*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2531					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GCAACCTTCTCAGGCCAACAC	0.393			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.2		NaN	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		11	Whole gene deletion(8)|Unknown(3)		soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	GRCh37	CI001027	NF1	I		c.(7591-7593)CAG>TAG		neurofibromin isoform 1							55.0	52.0	53.0					17																	29679408		2203	4300	6503	SO:0001587	stop_gained	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29679408C>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.7591C>T	17.37:g.29679408C>T	ENSP00000351015:p.Gln2531*	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Nonsense_Mutation_p.Q2510*|NF1_uc010cso.2_Nonsense_Mutation_p.Q719*|NF1_uc010wbt.1_Intron|NF1_uc010wbu.1_RNA	p.Q2531*	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	51	7924	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	2531					O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	c.7591C>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	36	5.626163	0.96671	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181	.	.	.	5.86	5.86	0.93980	.	0.054462	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	19.1758	0.93602	0.0:1.0:0.0:0.0	.	.	.	.	X	2531;2510;2176;324	.	ENSP00000348498:Q2510X	Q	+	1	0	NF1	26703534	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.184000	0.77705	2.765000	0.95021	0.655000	0.94253	CAG		0.393	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2		NM_000267		8	29	0	0	0	0.004482	0	8	29		
LIG3	3980	broad.mit.edu	37	17	33325294	33325294	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:33325294G>A	ENST00000378526.4	+	13	2101	c.1968G>A	c.(1966-1968)ggG>ggA	p.G656G	LIG3_ENST00000262327.5_Silent_p.G656G	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	656					base-excision repair (GO:0006284)|base-excision repair, DNA ligation (GO:0006288)|DNA biosynthetic process (GO:0071897)|DNA repair (GO:0006281)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitochondrial DNA repair (GO:0043504)|negative regulation of DNA recombination (GO:0045910)|nucleotide-excision repair (GO:0006289)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	GATTGGAGGGGCTGGTGCTGA	0.562								Other BER factors			OREG0024326	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002hik.1		NaN																	0				skin(3)|lung(2)|ovary(2)|large_intestine(1)|pancreas(1)	9						c.(1966-1968)GGG>GGA	Other_BER_factors	ligase III, DNA, ATP-dependent isoform alpha	Bleomycin(DB00290)						139.0	127.0	131.0					17																	33325294		2203	4300	6503	SO:0001819	synonymous_variant	3980				base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding	g.chr17:33325294G>A		CCDS11284.2, CCDS11285.2	17q11.2-q12	2008-10-29			ENSG00000005156	ENSG00000005156			6600	protein-coding gene	gene with protein product		600940	"""ligase II, DNA, ATP-dependent"""	LIG2		7760816	Standard	NM_002311		Approved		uc002hik.2	P49916	OTTHUMG00000128519	ENST00000378526.4:c.1968G>A	17.37:g.33325294G>A			OREG0024326	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	839	LIG3_uc002hij.2_Silent_p.G656G	p.G656G	NM_013975	NP_039269	P49916	DNLI3_HUMAN			13	2076	+		Ovarian(249;0.17)	656					Q16714|Q6NVK3	Silent	SNP	ENST00000378526.4	37	c.1968G>A	CCDS11284.2																																																																																				0.562	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250330.3		NM_013975		13	42	0	0	0	0.00245	0	13	42		
DHRS11	79154	broad.mit.edu	37	17	34956152	34956152	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:34956152A>G	ENST00000251312.5	+	5	847	c.635A>G	c.(634-636)aAg>aGg	p.K212R	MRM1_ENST00000585770.1_5'Flank|MRM1_ENST00000250156.7_5'Flank|DHRS11_ENST00000590554.1_Missense_Mutation_p.K133R	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN	dehydrogenase/reductase (SDR family) member 11	212						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			endometrium(1)|lung(4)	5						CTCCACGACAAGGACCCTGAG	0.572																																						uc002hnd.2		NaN																	0					0						c.(634-636)AAG>AGG		short-chain dehydrogenase/reductase precursor							89.0	80.0	83.0					17																	34956152		2203	4300	6503	SO:0001583	missense	79154					extracellular region	binding|oxidoreductase activity	g.chr17:34956152A>G		CCDS11315.2	17q12	2014-05-06			ENSG00000108272	ENSG00000278535		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	28639	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 24C, member 1"""					12975309, 19027726	Standard	NM_024308		Approved	MGC4172, SDR24C1	uc002hnd.3	Q6UWP2	OTTHUMG00000188442	ENST00000251312.5:c.635A>G	17.37:g.34956152A>G	ENSP00000251312:p.Lys212Arg					MRM1_uc002hne.2_5'Flank|MRM1_uc002hnf.2_5'Flank	p.K212R	NM_024308	NP_077284	Q6UWP2	DHR11_HUMAN			5	849	+			212					B2RDZ3|Q9BUC7|Q9H674	Missense_Mutation	SNP	ENST00000251312.5	37	c.635A>G	CCDS11315.2	.	.	.	.	.	.	.	.	.	.	A	13.13	2.146468	0.37923	.	.	ENSG00000108272	ENST00000251312	D	0.84944	-1.92	5.04	5.04	0.67666	NAD(P)-binding domain (1);	0.124692	0.64402	D	0.000001	T	0.76133	0.3945	N	0.21324	0.655	0.36321	D	0.858279	B	0.02656	0.0	B	0.04013	0.001	T	0.74878	-0.3514	10	0.31617	T	0.26	-27.6091	14.2754	0.66177	1.0:0.0:0.0:0.0	.	212	Q6UWP2	DHR11_HUMAN	R	212	ENSP00000251312:K212R	ENSP00000251312:K212R	K	+	2	0	DHRS11	32030265	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.827000	0.55745	2.033000	0.60031	0.459000	0.35465	AAG		0.572	DHRS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256681.2		NM_024308		22	41	0	0	0	0.00278	0	22	41		
RARA	5914	broad.mit.edu	37	17	38510642	38510642	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:38510642A>G	ENST00000254066.5	+	7	1351	c.896A>G	c.(895-897)aAc>aGc	p.N299S	RARA_ENST00000394081.3_Missense_Mutation_p.N294S|RARA_ENST00000425707.3_Missense_Mutation_p.N202S|RARA_ENST00000394086.3_Missense_Mutation_p.N315S|RARA_ENST00000394089.2_Missense_Mutation_p.N299S|RARA_ENST00000420042.1_3'UTR	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	299	Ligand-binding.				apoptotic cell clearance (GO:0043277)|cellular response to estrogen stimulus (GO:0071391)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|chondroblast differentiation (GO:0060591)|embryonic camera-type eye development (GO:0031076)|face development (GO:0060324)|female pregnancy (GO:0007565)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|intracellular estrogen receptor signaling pathway (GO:0030520)|limb development (GO:0060173)|liver development (GO:0001889)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translational initiation (GO:0045947)|negative regulation of tumor necrosis factor production (GO:0032720)|neural tube closure (GO:0001843)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of binding (GO:0051099)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein phosphorylation (GO:0006468)|regulation of myelination (GO:0031641)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|retinoic acid receptor signaling pathway (GO:0048384)|Sertoli cell fate commitment (GO:0060010)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chromatin DNA binding (GO:0031490)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|mRNA 5'-UTR binding (GO:0048027)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein kinase A binding (GO:0051018)|protein kinase B binding (GO:0043422)|receptor binding (GO:0005102)|retinoic acid binding (GO:0001972)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|translation repressor activity, nucleic acid binding (GO:0000900)|zinc ion binding (GO:0008270)			breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CAGATGCACAACGCTGGCTTC	0.652			T	"""PML, ZNF145, TIF1, NUMA1, NPM1"""	APL																																	uc002huk.1		NaN		Dom	yes		17	17q12	5914	T	"""retinoic acid receptor, alpha"""			L	PML|ZNF145|TIF1|NUMA1|NPM1		APL		0				ovary(1)|lung(1)|breast(1)	3						c.(895-897)AAC>AGC		retinoic acid receptor, alpha isoform 1	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)						115.0	93.0	100.0					17																	38510642		2203	4300	6503	SO:0001583	missense	5914				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr17:38510642A>G	X06538	CCDS11366.1, CCDS42317.1, CCDS45671.1	17q21.1	2014-01-20			ENSG00000131759	ENSG00000131759		"""Nuclear hormone receptors"""	9864	protein-coding gene	gene with protein product		180240				2825036, 8244378	Standard	NM_001145301		Approved	RAR, NR1B1	uc002huk.2	P10276	OTTHUMG00000133328	ENST00000254066.5:c.896A>G	17.37:g.38510642A>G	ENSP00000254066:p.Asn299Ser					RARA_uc002hul.3_Missense_Mutation_p.N299S|RARA_uc010wfe.1_Missense_Mutation_p.N202S|RARA_uc002hun.1_Missense_Mutation_p.N294S	p.N299S	NM_000964	NP_000955	P10276	RARA_HUMAN	STAD - Stomach adenocarcinoma(5;0.00143)		7	1351	+		Breast(137;0.00328)	299			Ligand-binding.		B8Y636|P78456|Q13440|Q13441|Q96S41|Q9NQS0	Missense_Mutation	SNP	ENST00000254066.5	37	c.896A>G	CCDS11366.1	.	.	.	.	.	.	.	.	.	.	A	15.47	2.843885	0.51164	.	.	ENSG00000131759	ENST00000254066;ENST00000425707;ENST00000394089;ENST00000394086;ENST00000394081;ENST00000319149;ENST00000420042	D;D;D;D;D	0.96365	-3.99;-3.99;-3.99;-3.99;-3.99	4.93	4.93	0.64822	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.94335	0.8179	N	0.25426	0.745	0.80722	D	1	D;P;P	0.64830	0.994;0.743;0.889	P;B;P	0.52672	0.706;0.417;0.52	D	0.92870	0.6313	10	0.24483	T	0.36	.	13.6851	0.62511	1.0:0.0:0.0:0.0	.	202;294;299	B8Y636;F1D8N9;P10276	.;.;RARA_HUMAN	S	299;202;299;315;294;292;186	ENSP00000254066:N299S;ENSP00000389993:N202S;ENSP00000377649:N299S;ENSP00000377648:N315S;ENSP00000377643:N294S	ENSP00000254066:N299S	N	+	2	0	RARA	35764168	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.131000	0.94446	2.055000	0.61198	0.482000	0.46254	AAC		0.652	RARA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257136.2				15	71	0	0	0	0.003163	0	15	71		
KRT33B	3884	broad.mit.edu	37	17	39521742	39521742	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:39521742C>T	ENST00000251646.3	-	4	701	c.652G>A	c.(652-654)Gct>Act	p.A218T		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	218	Linker 12.|Rod.				aging (GO:0007568)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				AGGTCCACAGCGGGAGCAGCG	0.562																																						uc002hwl.2		NaN																	0					0						c.(652-654)GCT>ACT		type I hair keratin 3B							71.0	68.0	69.0					17																	39521742		2191	4300	6491	SO:0001583	missense	3884					intermediate filament	protein binding|structural molecule activity	g.chr17:39521742C>T	X82634	CCDS11389.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131738	ENSG00000131738		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6451	protein-coding gene	gene with protein product	"""hard keratin type I 3II"""	602762	"""keratin, hair, acidic, 3B"""	KRTHA3B		7565656, 16831889	Standard	NM_002279		Approved	Ha-3II	uc002hwl.4	Q14525	OTTHUMG00000133429	ENST00000251646.3:c.652G>A	17.37:g.39521742C>T	ENSP00000251646:p.Ala218Thr						p.A218T	NM_002279	NP_002270	Q14525	KT33B_HUMAN			4	697	-		Breast(137;0.000496)	218			Linker 12.|Rod.		O76010	Missense_Mutation	SNP	ENST00000251646.3	37	c.652G>A	CCDS11389.1	.	.	.	.	.	.	.	.	.	.	c	0.010	-1.777693	0.00640	.	.	ENSG00000131738	ENST00000251646	D	0.88664	-2.41	4.78	2.49	0.30216	Filament (1);	0.391486	0.24889	N	0.034796	T	0.61022	0.2314	N	0.00841	-1.15	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.55872	-0.8072	10	0.07325	T	0.83	.	3.737	0.08514	0.1631:0.1948:0.0:0.6421	.	218	Q14525	KT33B_HUMAN	T	218	ENSP00000251646:A218T	ENSP00000251646:A218T	A	-	1	0	KRT33B	36775268	0.718000	0.27976	0.847000	0.33407	0.074000	0.17049	2.696000	0.47052	0.380000	0.24823	-0.312000	0.09012	GCT		0.562	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257292.1		NM_002279		16	34	0	0	0	0.00499	0	16	34		
MEOX1	4222	broad.mit.edu	37	17	41719371	41719371	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:41719371C>G	ENST00000318579.4	-	3	1091	c.672G>C	c.(670-672)atG>atC	p.M224I	MEOX1_ENST00000393661.2_Missense_Mutation_p.M109I|MEOX1_ENST00000549132.1_Missense_Mutation_p.M137I|MEOX1_ENST00000329168.3_Missense_Mutation_p.E167Q	NM_001040002.1|NM_004527.3	NP_001035091.1|NP_004518.1	P50221	MEOX1_HUMAN	mesenchyme homeobox 1	224					multicellular organismal development (GO:0007275)|somite specification (GO:0001757)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		GCTTCCACTTCATCCTTCGGT	0.582																																						uc002idz.2		NaN																	0					0						c.(670-672)ATG>ATC		mesenchyme homeobox 1 isoform 1							133.0	117.0	122.0					17																	41719371		2203	4300	6503	SO:0001583	missense	4222					nucleus	sequence-specific DNA binding	g.chr17:41719371C>G		CCDS11466.1, CCDS11467.1, CCDS42343.1	17q21.31	2014-07-15	2005-12-22					"""Homeoboxes / ANTP class : HOXL subclass"""	7013	protein-coding gene	gene with protein product		600147	"""mesenchyme homeo box 1"""			7987315	Standard	NM_013999		Approved	MOX1	uc002idz.3	P50221	OTTHUMG00000170513	ENST00000318579.4:c.672G>C	17.37:g.41719371C>G	ENSP00000321684:p.Met224Ile					MEOX1_uc002iea.2_Missense_Mutation_p.E167Q|MEOX1_uc002ieb.2_Missense_Mutation_p.M109I	p.M224I	NM_004527	NP_004518	P50221	MEOX1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0753)	3	701	-		Breast(137;0.00908)	224			Homeobox.		A8K524|A8MWF9|Q15069	Missense_Mutation	SNP	ENST00000318579.4	37	c.672G>C	CCDS11466.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.8|27.8	4.862342|4.862342	0.91511|0.91511	.|.	.|.	ENSG00000005102|ENSG00000005102	ENST00000329168|ENST00000318579;ENST00000549132;ENST00000393661	T|D;D;D	0.46819|0.96136	0.86|-3.92;-3.73;-3.92	4.62|4.62	4.62|4.62	0.57501|0.57501	.|Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	.|0.041691	.|0.85682	.|D	.|0.000000	D|D	0.97564|0.97564	0.9202|0.9202	.|.	.|.	.|.	0.26592|0.26592	N|N	0.973181|0.973181	D|D	0.89917|0.89917	1.0|1.0	D|D	0.87578|0.91635	0.998|0.999	D|D	0.93370|0.93370	0.6734|0.6734	8|9	0.62326|0.87932	D|D	0.03|0	-26.6316|-26.6316	17.6424|17.6424	0.88140|0.88140	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	167|224	Q15069|P50221	.|MEOX1_HUMAN	Q|I	167|224;137;109	ENSP00000328678:E167Q|ENSP00000321684:M224I;ENSP00000449049:M137I;ENSP00000377271:M109I	ENSP00000328678:E167Q|ENSP00000321684:M224I	E|M	-|-	1|3	0|0	MEOX1|MEOX1	39074897|39074897	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.198000|7.198000	0.77823|0.77823	2.392000|2.392000	0.81423|0.81423	0.462000|0.462000	0.41574|0.41574	GAA|ATG		0.582	MEOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409452.1				28	119	0	0	0	0.012213	0	28	119		
GRN	2896	broad.mit.edu	37	17	42427117	42427117	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:42427117C>G	ENST00000053867.3	+	4	409	c.347C>G	c.(346-348)tCa>tGa	p.S116*	GRN_ENST00000589265.1_Nonsense_Mutation_p.S116*	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	116					blastocyst hatching (GO:0001835)|cell death (GO:0008219)|embryo implantation (GO:0007566)|positive regulation of epithelial cell proliferation (GO:0050679)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	growth factor activity (GO:0008083)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TTCCAAAGATCAGGTGCAGCT	0.652																																						uc002igp.1		NaN																	0				ovary(2)|central_nervous_system(2)|skin(1)	5						c.(346-348)TCA>TGA		granulin precursor							35.0	29.0	31.0					17																	42427117		2203	4300	6503	SO:0001587	stop_gained	2896				signal transduction	extracellular space	cytokine activity|growth factor activity	g.chr17:42427117C>G	M75161	CCDS11483.1	17q21.32	2014-09-17				ENSG00000030582			4601	protein-coding gene	gene with protein product	"""progranulin"""	138945				1417868, 9826678	Standard	XM_005257253		Approved	PCDGF, PGRN, CLN11	uc002igp.1	P28799		ENST00000053867.3:c.347C>G	17.37:g.42427117C>G	ENSP00000053867:p.Ser116*					GRN_uc002igq.1_3'UTR|GRN_uc002igr.1_5'Flank	p.S116*	NM_002087	NP_002078	P28799	GRN_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	4	566	+		Prostate(33;0.0181)	116					D3DX55|P23781|P23782|P23783|P23784|Q53HQ8|Q53Y88|Q540U8|Q9BWE7|Q9H8S1|Q9UCH0	Nonsense_Mutation	SNP	ENST00000053867.3	37	c.347C>G	CCDS11483.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	25.7|25.7	4.662708|4.662708	0.88251|0.88251	.|.	.|.	ENSG00000030582|ENSG00000030582	ENST00000393566|ENST00000053867;ENST00000357351	.|.	.|.	.|.	4.11|4.11	1.88|1.88	0.25563|0.25563	.|.	.|1.322980	.|0.05650	.|N	.|0.585082	T|.	0.38321|.	0.1036|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.44574|.	-0.9319|.	4|.	0.02654|0.54805	T|T	1|0.06	2.2284|2.2284	4.4545|4.4545	0.11637|0.11637	0.2339:0.6462:0.0:0.1199|0.2339:0.6462:0.0:0.1199	.|.	.|.	.|.	.|.	E|X	23|116	.|.	ENSP00000377196:Q23E|ENSP00000053867:S116X	Q|S	+|+	1|2	0|0	GRN|GRN	39782643|39782643	0.005000|0.005000	0.15991|0.15991	0.656000|0.656000	0.29637|0.29637	0.144000|0.144000	0.21451|0.21451	-0.134000|-0.134000	0.10436|0.10436	0.924000|0.924000	0.37069|0.37069	0.450000|0.450000	0.29827|0.29827	CAG|TCA		0.652	GRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457766.1		NM_002087		3	20	0	0	0	0.004672	0	3	20		
FMNL1	752	broad.mit.edu	37	17	43318986	43318986	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:43318986G>C	ENST00000331495.3	+	14	1906	c.1570G>C	c.(1570-1572)Ggc>Cgc	p.G524R	CTD-2020K17.3_ENST00000393507.2_RNA|FMNL1_ENST00000587489.1_Missense_Mutation_p.G102R|FMNL1_ENST00000328118.3_Missense_Mutation_p.G524R|CTD-2020K17.3_ENST00000587534.1_RNA	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	524	Pro-rich.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GGTGCCGACCGGCTCCCCCAG	0.716																																					GBM(164;1247 1997 8702 11086 51972)	uc002iin.2		NaN																	0				pancreas(1)	1						c.(1570-1572)GGC>CGC		formin-like 1							4.0	4.0	4.0					17																	43318986		1652	3344	4996	SO:0001583	missense	752				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr17:43318986G>C	AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"""formin-like"""	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.1570G>C	17.37:g.43318986G>C	ENSP00000329219:p.Gly524Arg					FMNL1_uc002iiq.2_Missense_Mutation_p.G102R|FMNL1_uc010dag.2_5'Flank	p.G524R	NM_005892	NP_005883	O95466	FMNL_HUMAN			14	1770	+			524			Pro-rich.		D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Missense_Mutation	SNP	ENST00000331495.3	37	c.1570G>C	CCDS11497.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.979226	0.34942	.	.	ENSG00000184922	ENST00000328118;ENST00000331495;ENST00000539884	T;T	0.79749	-1.28;-1.3	4.26	1.05	0.20165	.	15.863800	0.00166	N	0.000000	T	0.64136	0.2571	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.52411	-0.8579	10	0.18276	T	0.48	.	7.8532	0.29468	0.2986:0.0:0.7014:0.0	.	524	O95466	FMNL_HUMAN	R	524;524;242	ENSP00000327442:G524R;ENSP00000329219:G524R	ENSP00000327442:G524R	G	+	1	0	FMNL1	40674769	0.000000	0.05858	0.016000	0.15963	0.173000	0.22820	-0.700000	0.05081	0.268000	0.21939	0.407000	0.27541	GGC		0.716	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450198.1		NM_005892		4	5	0	0	0	0.001168	0	4	5		
WNT9B	7484	broad.mit.edu	37	17	44954078	44954078	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:44954078G>A	ENST00000290015.2	+	4	1121	c.1068G>A	c.(1066-1068)aaG>aaA	p.K356K	WNT9B_ENST00000393461.2_Intron	NM_003396.1	NP_003387.1	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	356					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to starvation (GO:0009267)|collecting duct development (GO:0072044)|cornea development in camera-type eye (GO:0061303)|embryonic cranial skeleton morphogenesis (GO:0048701)|establishment of planar polarity involved in nephron morphogenesis (GO:0072046)|in utero embryonic development (GO:0001701)|kidney rudiment formation (GO:0072003)|male genitalia development (GO:0030539)|mesenchymal stem cell maintenance involved in nephron morphogenesis (GO:0072038)|mesonephric duct formation (GO:0072181)|metanephric tubule formation (GO:0072174)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|palate development (GO:0060021)|positive regulation of catalytic activity (GO:0043085)|regulation of asymmetric cell division (GO:0009786)|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003339)|regulation of protein phosphorylation (GO:0001932)|regulation of tube size (GO:0035150)|response to retinoic acid (GO:0032526)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			ACACCTGCAAGCACTAGGCCT	0.627																																						uc002ikw.1		NaN																	0				lung(2)	2						c.(1066-1068)AAG>AAA		wingless-type MMTV integration site family,							27.0	25.0	25.0					17																	44954078		2203	4300	6503	SO:0001819	synonymous_variant	7484				anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding	g.chr17:44954078G>A	AF028703	CCDS11506.1	17q21	2008-01-07	2003-03-11	2003-03-14		ENSG00000158955		"""Wingless-type MMTV integration sites"""	12779	protein-coding gene	gene with protein product		602864	"""wingless-type MMTV integration site family, member 15"""	WNT15		9441749, 11713592	Standard	NM_003396		Approved	WNT14B	uc002ikw.1	O14905		ENST00000290015.2:c.1068G>A	17.37:g.44954078G>A						WNT9B_uc002ikx.1_Intron	p.K356K	NM_003396	NP_003387	O14905	WNT9B_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0257)		4	1105	+			356					Q6UXT4|Q96Q09	Silent	SNP	ENST00000290015.2	37	c.1068G>A	CCDS11506.1																																																																																				0.627	WNT9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440433.1		NM_003396		12	31	0	0	0	0.010729	0	12	31		
NPEPPS	9520	broad.mit.edu	37	17	45689897	45689897	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:45689897G>A	ENST00000322157.4	+	18	2404	c.2167G>A	c.(2167-2169)Gaa>Aaa	p.E723K	RP11-580I16.2_ENST00000582066.1_RNA|NPEPPS_ENST00000530173.1_Missense_Mutation_p.E719K|NPEPPS_ENST00000544660.1_Missense_Mutation_p.E643K|RP11-580I16.2_ENST00000582389.1_RNA	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	723					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						GGCAACGTTAGAAGAAGCCCG	0.458																																						uc002ilr.3		NaN																	0					0						c.(2167-2169)GAA>AAA		aminopeptidase puromycin sensitive							97.0	97.0	97.0					17																	45689897		1870	4092	5962	SO:0001583	missense	9520				proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr17:45689897G>A	Y07701	CCDS45721.1	17q12-q21	2008-07-18			ENSG00000141279	ENSG00000141279	3.4.11.2		7900	protein-coding gene	gene with protein product	"""puromycin-sensitive aminopeptidase"", ""metalloproteinase MP100"""	606793				9048733, 10329370	Standard	NM_006310		Approved	PSA, MP100	uc002ilr.4	P55786	OTTHUMG00000165471	ENST00000322157.4:c.2167G>A	17.37:g.45689897G>A	ENSP00000320324:p.Glu723Lys					NPEPPS_uc010wkt.1_Missense_Mutation_p.E719K|NPEPPS_uc010wku.1_Missense_Mutation_p.E687K|NPEPPS_uc010wkv.1_Missense_Mutation_p.E277K|NPEPPS_uc002ils.1_Missense_Mutation_p.E156K	p.E723K	NM_006310	NP_006301	P55786	PSA_HUMAN			18	2390	+			723					B7Z463|Q6P145|Q9NP16|Q9UEM2	Missense_Mutation	SNP	ENST00000322157.4	37	c.2167G>A	CCDS45721.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.289939	0.59976	.	.	ENSG00000141279	ENST00000530173;ENST00000322157;ENST00000544660	T;T;T	0.05717	3.4;3.4;3.4	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.07413	0.0187	L	0.38175	1.15	0.80722	D	1	B;B;B	0.15930	0.015;0.005;0.015	B;B;B	0.20577	0.03;0.021;0.03	T	0.33033	-0.9884	10	0.12103	T	0.63	.	18.9979	0.92821	0.0:0.0:1.0:0.0	.	719;406;723	E9PLK3;B7Z1H4;P55786	.;.;PSA_HUMAN	K	719;723;643	ENSP00000433287:E719K;ENSP00000320324:E723K;ENSP00000442461:E643K	ENSP00000320324:E723K	E	+	1	0	NPEPPS	43044896	1.000000	0.71417	0.969000	0.41365	0.993000	0.82548	9.836000	0.99456	2.474000	0.83562	0.650000	0.86243	GAA		0.458	NPEPPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384269.1		NM_006310		16	55	0	0	0	0.00499	0	16	55		
SNX11	29916	broad.mit.edu	37	17	46189426	46189426	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:46189426G>A	ENST00000393405.2	+	3	375	c.21G>A	c.(19-21)atG>atA	p.M7I	SNX11_ENST00000452859.2_Intron|SNX11_ENST00000578861.1_3'UTR|SNX11_ENST00000439357.2_5'UTR|SNX11_ENST00000359238.2_Missense_Mutation_p.M7I|SNX11_ENST00000580219.1_5'UTR|SNX11_ENST00000582104.1_5'UTR	NM_152244.1	NP_689450.1	Q9Y5W9	SNX11_HUMAN	sorting nexin 11	7					intracellular protein transport (GO:0006886)|vesicle organization (GO:0016050)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol phosphate binding (GO:1901981)			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	14						GGTGTAGGATGTCGGAGAACC	0.458																																						uc002inf.1		NaN																	0					0						c.(19-21)ATG>ATA		sorting nexin 11							193.0	169.0	177.0					17																	46189426		2203	4300	6503	SO:0001583	missense	29916				cell communication|protein transport	membrane	phosphatidylinositol binding	g.chr17:46189426G>A	AF121861	CCDS11526.1	17q21.32	2011-05-03			ENSG00000002919	ENSG00000002919		"""Sorting nexins"""	14975	protein-coding gene	gene with protein product		614906					Standard	NM_013323		Approved		uc002ing.1	Q9Y5W9		ENST00000393405.2:c.21G>A	17.37:g.46189426G>A	ENSP00000377059:p.Met7Ile					SNX11_uc010wlg.1_5'UTR|SNX11_uc010wlh.1_5'UTR|SNX11_uc010wli.1_5'UTR|SNX11_uc010wlj.1_Intron|SNX11_uc002ing.1_Missense_Mutation_p.M7I|SNX11_uc002inh.1_Missense_Mutation_p.M7I	p.M7I	NM_152244	NP_689450	Q9Y5W9	SNX11_HUMAN			3	375	+			7					B3KRL6|B4DPY5|D3DTV0|Q53YC0|Q9H885	Missense_Mutation	SNP	ENST00000393405.2	37	c.21G>A	CCDS11526.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.635295	0.47049	.	.	ENSG00000002919	ENST00000393405;ENST00000359238	T;T	0.66099	-0.19;-0.19	5.24	5.24	0.73138	.	0.154190	0.52532	D	0.000063	T	0.60301	0.2258	L	0.40543	1.245	0.80722	D	1	D	0.59357	0.985	P	0.47251	0.542	T	0.63804	-0.6554	10	0.52906	T	0.07	-3.7204	15.8046	0.78483	0.0:0.0:1.0:0.0	.	7	Q9Y5W9	SNX11_HUMAN	I	7	ENSP00000377059:M7I;ENSP00000352175:M7I	ENSP00000352175:M7I	M	+	3	0	SNX11	43544425	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.052000	0.71080	2.443000	0.82685	0.549000	0.68633	ATG		0.458	SNX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443423.1				12	51	0	0	0	0.013537	0	12	51		
HOXB8	3218	broad.mit.edu	37	17	46690570	46690570	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:46690570C>T	ENST00000239144.4	-	2	960	c.726G>A	c.(724-726)aaG>aaA	p.K242K	HOXB7_ENST00000567101.2_Intron|HOXB8_ENST00000576562.1_Silent_p.K241K|HOXB7_ENST00000239165.7_5'Flank	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	242					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|dorsal spinal cord development (GO:0021516)|embryonic skeletal system morphogenesis (GO:0048704)|grooming behavior (GO:0007625)|negative regulation of myeloid cell differentiation (GO:0045638)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(8)|urinary_tract(2)	11						AAGCCTACTTCTTGTCGCCCT	0.731																																						uc002inw.2		NaN																	0					0						c.(724-726)AAG>AAA		homeobox B8							54.0	58.0	57.0					17																	46690570		2201	4297	6498	SO:0001819	synonymous_variant	3218					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46690570C>T		CCDS11533.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120068	ENSG00000120068		"""Homeoboxes / ANTP class : HOXL subclass"""	5119	protein-coding gene	gene with protein product		142963	"""homeo box B8"""	HOX2, HOX2D		1973146, 1358459	Standard	XM_005257286		Approved		uc002inw.3	P17481	OTTHUMG00000159904	ENST00000239144.4:c.726G>A	17.37:g.46690570C>T						HOXB7_uc002inv.2_5'Flank	p.K242K	NM_024016	NP_076921	P17481	HXB8_HUMAN			2	961	-			242					Q9H1I2	Silent	SNP	ENST00000239144.4	37	c.726G>A	CCDS11533.1																																																																																				0.731	HOXB8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358092.3				16	83	0	0	0	0.007413	0	16	83		
SNF8	11267	broad.mit.edu	37	17	47013602	47013602	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:47013602G>A	ENST00000502492.1	-	5	734	c.352C>T	c.(352-354)Ctg>Ttg	p.L118L	SNF8_ENST00000514089.1_5'UTR|SNF8_ENST00000290330.3_Silent_p.L118L|AC091133.1_ENST00000435491.1_RNA			Q96H20	SNF8_HUMAN	SNF8, ESCRT-II complex subunit	118					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|lung(1)	3						AAAGTTATCAGACCTGTTTGG	0.428																																						uc002ioj.2		NaN																	0					0						c.(352-354)CTG>TTG		EAP30 subunit of ELL complex							78.0	61.0	66.0					17																	47013602		2203	4300	6503	SO:0001819	synonymous_variant	11267				cellular membrane organization|endosome transport|protein transport|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytosol|late endosome membrane|transcription factor complex	transcription factor binding	g.chr17:47013602G>A	AF156102	CCDS11541.1	17q21.32	2013-06-05	2013-06-05		ENSG00000159210	ENSG00000159210			17028	protein-coding gene	gene with protein product		610904	"""SNF8, ESCRT-II complex subunit, homolog (S. cerevisiae)"""			10419521, 15329733	Standard	NM_007241		Approved	EAP30, VPS22, Dot3	uc002ioj.3	Q96H20	OTTHUMG00000160569	ENST00000502492.1:c.352C>T	17.37:g.47013602G>A						SNF8_uc002iok.2_Silent_p.L118L	p.L118L	NM_007241	NP_009172	Q96H20	SNF8_HUMAN			5	410	-			118					Q8IXY3|Q9UN50	Silent	SNP	ENST00000502492.1	37	c.352C>T	CCDS11541.1																																																																																				0.428	SNF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000361172.1		NM_007241		3	24	0	0	0	0.009096	0	3	24		
PHB	5245	broad.mit.edu	37	17	47486813	47486813	+	Silent	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:47486813T>C	ENST00000300408.3	-	4	345	c.273A>G	c.(271-273)acA>acG	p.T91T	RP11-81K2.1_ENST00000576461.1_Intron|PHB_ENST00000511832.1_Silent_p.T91T|PHB_ENST00000508009.1_5'UTR	NM_001281496.1|NM_001281715.1|NM_002634.2	NP_001268425.1|NP_001268644.1|NP_002625.1	P35232	PHB_HUMAN	prohibitin	91					cellular response to interleukin-6 (GO:0071354)|DNA replication (GO:0006260)|histone deacetylation (GO:0016575)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone receptor signaling pathway (GO:0050847)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|transcription regulatory region DNA binding (GO:0044212)			endometrium(4)|large_intestine(2)|lung(4)	10	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)			GGATGCGCAGTGTGATGTTGA	0.453																																						uc002iox.1		NaN																	0					0						c.(271-273)ACA>ACG		prohibitin							82.0	83.0	83.0					17																	47486813		2203	4300	6503	SO:0001819	synonymous_variant	5245				cellular response to interleukin-6|DNA replication|glucocorticoid receptor signaling pathway|histone deacetylation|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|progesterone receptor signaling pathway|regulation of apoptosis	integral to plasma membrane|mitochondrial inner membrane|nucleoplasm	histone deacetylase binding|transcription regulatory region DNA binding	g.chr17:47486813T>C		CCDS11548.1, CCDS62244.1	17q21	2010-11-25			ENSG00000167085	ENSG00000167085			8912	protein-coding gene	gene with protein product		176705				10376528, 8244394	Standard	NM_001281496		Approved	PHB1	uc002iox.1	P35232	OTTHUMG00000134271	ENST00000300408.3:c.273A>G	17.37:g.47486813T>C							p.T91T	NM_002634	NP_002625	P35232	PHB_HUMAN	Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		4	346	-	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		91					B4DY47|Q4VBQ0	Silent	SNP	ENST00000300408.3	37	c.273A>G	CCDS11548.1																																																																																				0.453	PHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258826.1		NM_002634		26	55	0	0	0	0.00632	0	26	55		
EME1	146956	broad.mit.edu	37	17	48450605	48450605	+	5'UTR	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:48450605G>A	ENST00000338165.4	+	0	25				EME1_ENST00000393271.2_5'UTR|EME1_ENST00000511648.2_5'Flank|MRPL27_ENST00000503633.1_5'Flank|MRPL27_ENST00000511860.1_5'Flank|MRPL27_ENST00000225969.4_5'Flank|MRPL27_ENST00000507088.1_5'Flank|MRPL27_ENST00000442592.3_5'Flank	NM_152463.2	NP_689676.2	Q96AY2	EME1_HUMAN	essential meiotic structure-specific endonuclease 1						DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			CGGGCCCTGCGTGGCAGTTGA	0.597								Direct reversal of damage;Homologous recombination																														uc002iqs.1		NaN																	0					0						c.(-59--55)GCGTG>GCATG	Direct_reversal_of_damage|Homologous_recombination	essential meiotic endonuclease 1 homolog 1							43.0	39.0	40.0					17																	48450605		692	1591	2283	SO:0001623	5_prime_UTR_variant	146956				DNA recombination|DNA repair	nucleolus	DNA binding|endonuclease activity|metal ion binding|protein binding	g.chr17:48450605G>A	BC016470	CCDS11565.1, CCDS54141.1	17q21.33	2013-07-03	2013-07-03			ENSG00000154920			24965	protein-coding gene	gene with protein product	"""SLX2 structure-specific endonuclease subunit homolog A (S. cerevisiae)"""	610885	"""essential meiotic endonuclease 1 homolog 1 (S. pombe)"""			12721304	Standard	NM_001166131		Approved	FLJ31364, MMS4L, SLX2A	uc010dbp.2	Q96AY2		ENST00000338165.4:c.-58G>A	17.37:g.48450605G>A						MRPL27_uc002iqq.2_5'Flank|MRPL27_uc002iqr.2_5'Flank|EME1_uc010dbp.1_5'Flank		NM_152463	NP_689676	Q96AY2	EME1_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.43e-08)		1	16	+	Breast(11;5.62e-19)							Q96N62	Translation_Start_Site	SNP	ENST00000338165.4	37	c.-57G>A	CCDS11565.1																																																																																				0.597	EME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367118.3		NM_152463		4	4	0	0	0	0.009096	0	4	4		
CUEDC1	404093	broad.mit.edu	37	17	55950043	55950043	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:55950043G>A	ENST00000577830.1	-	5	1178	c.765C>T	c.(763-765)ttC>ttT	p.F255F	CUEDC1_ENST00000407144.2_Silent_p.F255F|CUEDC1_ENST00000360238.2_Silent_p.F255F|CUEDC1_ENST00000577840.1_Silent_p.F118F|CUEDC1_ENST00000578357.1_5'Flank	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN	CUE domain containing 1	255										endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						GAGCGAGGAGGAAGTCGCGGT	0.597																																						uc002ivd.1		NaN																	0				skin(2)	2						c.(763-765)TTC>TTT		CUE domain-containing 1							56.0	44.0	48.0					17																	55950043		2203	4300	6503	SO:0001819	synonymous_variant	404093							g.chr17:55950043G>A	AK000746	CCDS11599.1	17q23.2	2004-03-16				ENSG00000180891			31350	protein-coding gene	gene with protein product							Standard	NM_001271875		Approved		uc002ive.2	Q9NWM3		ENST00000577830.1:c.765C>T	17.37:g.55950043G>A						CUEDC1_uc002ive.1_Silent_p.F255F	p.F255F	NM_017949	NP_060419	Q9NWM3	CUED1_HUMAN			5	1484	-			255					D3DTZ2|Q9NWD0	Silent	SNP	ENST00000577830.1	37	c.765C>T	CCDS11599.1																																																																																				0.597	CUEDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443305.1		NM_017949		5	37	0	0	0	0.001168	0	5	37		
RAD51C	5889	broad.mit.edu	37	17	56774148	56774148	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:56774148G>A	ENST00000337432.4	+	3	570	c.499G>A	c.(499-501)Gat>Aat	p.D167N	RAD51C_ENST00000487921.1_3'UTR|RAD51C_ENST00000583539.1_Missense_Mutation_p.D167N	NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN	RAD51 paralog C	167					blood coagulation (GO:0007596)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|female meiosis sister chromatid cohesion (GO:0007066)|male meiosis I (GO:0007141)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|reciprocal meiotic recombination (GO:0007131)|sister chromatid cohesion (GO:0007062)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|Rad51C-XRCC3 complex (GO:0033065)|replication fork (GO:0005657)	ATP binding (GO:0005524)|crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTTTATGGTTGATAGAGTGGT	0.413								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2																													uc002iwu.2		NaN																	0					0						c.(499-501)GAT>AAT	Homologous_recombination	RAD51 homolog C isoform 1							217.0	195.0	203.0					17																	56774148		2203	4300	6503	SO:0001583	missense	5889	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2	Familial Cancer Database	BRCAX	blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr17:56774148G>A	AF029670	CCDS11611.1, CCDS45745.1	17q25.1	2014-09-17	2013-07-02		ENSG00000108384	ENSG00000108384		"""Fanconi anemia, complementation groups"""	9820	protein-coding gene	gene with protein product		602774	"""RAD51 (S. cerevisiae) homolog C"", ""RAD51 homolog C (S. cerevisiae)"""			9469824, 22167183	Standard	NM_058216		Approved	RAD51L2, FANCO	uc002iwu.3	O43502	OTTHUMG00000141292	ENST00000337432.4:c.499G>A	17.37:g.56774148G>A	ENSP00000336701:p.Asp167Asn					RAD51C_uc010woa.1_Missense_Mutation_p.D167N|RAD51C_uc010ddc.2_RNA|RAD51C_uc002iwv.2_Intron|RAD51C_uc002iww.2_Intron|RAD51C_uc010wob.1_RNA	p.D167N	NM_058216	NP_478123	O43502	RA51C_HUMAN			3	541	+	Medulloblastoma(34;0.127)|all_neural(34;0.237)		167					O43503|Q3B783	Missense_Mutation	SNP	ENST00000337432.4	37	c.499G>A	CCDS11611.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.562249	0.65538	.	.	ENSG00000108384	ENST00000337432;ENST00000425173	T;T	0.38887	1.11;1.11	5.65	5.65	0.86999	DNA recombination/repair protein RecA/RadB, ATP-binding domain (1);ATPase, AAA+ type, core (1);DNA recombination and repair protein Rad51, C-terminal (1);	0.150382	0.64402	D	0.000010	T	0.42108	0.1188	L	0.45744	1.44	0.80722	D	1	B;B	0.17038	0.006;0.02	B;B	0.21151	0.033;0.03	T	0.24083	-1.0170	10	0.59425	D	0.04	-11.7967	18.3036	0.90172	0.0:0.0:1.0:0.0	.	158;167	B4E0G0;O43502	.;RA51C_HUMAN	N	167;99	ENSP00000336701:D167N;ENSP00000407282:D99N	ENSP00000336701:D167N	D	+	1	0	RAD51C	54129147	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.350000	0.73017	2.660000	0.90430	0.655000	0.94253	GAT		0.413	RAD51C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280540.2		NM_058216		29	42	0	0	0	0.008361	0	29	42		
RAD51C	5889	broad.mit.edu	37	17	56780655	56780655	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:56780655T>C	ENST00000337432.4	+	4	741	c.670T>C	c.(670-672)Tat>Cat	p.Y224H	RAD51C_ENST00000487921.1_3'UTR|RAD51C_ENST00000583539.1_Missense_Mutation_p.Y224H	NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN	RAD51 paralog C	224					blood coagulation (GO:0007596)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|female meiosis sister chromatid cohesion (GO:0007066)|male meiosis I (GO:0007141)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|reciprocal meiotic recombination (GO:0007131)|sister chromatid cohesion (GO:0007062)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|Rad51C-XRCC3 complex (GO:0033065)|replication fork (GO:0005657)	ATP binding (GO:0005524)|crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGCACAAGTTTATCTTCTTCC	0.348								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2																													uc002iwu.2		NaN																	0					0						c.(670-672)TAT>CAT	Homologous_recombination	RAD51 homolog C isoform 1							114.0	113.0	113.0					17																	56780655		2202	4299	6501	SO:0001583	missense	5889	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2	Familial Cancer Database	BRCAX	blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr17:56780655T>C	AF029670	CCDS11611.1, CCDS45745.1	17q25.1	2014-09-17	2013-07-02		ENSG00000108384	ENSG00000108384		"""Fanconi anemia, complementation groups"""	9820	protein-coding gene	gene with protein product		602774	"""RAD51 (S. cerevisiae) homolog C"", ""RAD51 homolog C (S. cerevisiae)"""			9469824, 22167183	Standard	NM_058216		Approved	RAD51L2, FANCO	uc002iwu.3	O43502	OTTHUMG00000141292	ENST00000337432.4:c.670T>C	17.37:g.56780655T>C	ENSP00000336701:p.Tyr224His					RAD51C_uc010woa.1_Missense_Mutation_p.Y224H|RAD51C_uc010ddc.2_RNA|RAD51C_uc002iwv.2_RNA|RAD51C_uc002iww.2_RNA|RAD51C_uc010wob.1_RNA	p.Y224H	NM_058216	NP_478123	O43502	RA51C_HUMAN			4	712	+	Medulloblastoma(34;0.127)|all_neural(34;0.237)		224					O43503|Q3B783	Missense_Mutation	SNP	ENST00000337432.4	37	c.670T>C	CCDS11611.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.22|11.22	1.573224|1.573224	0.28092|0.28092	.|.	.|.	ENSG00000108384|ENSG00000108384	ENST00000413590|ENST00000337432;ENST00000425173	.|T;T	.|0.65178	.|-0.14;-0.14	5.61|5.61	4.34|4.34	0.51931|0.51931	.|DNA recombination/repair protein RecA/RadB, ATP-binding domain (1);ATPase, AAA+ type, core (1);DNA recombination and repair protein Rad51, C-terminal (1);	.|0.224208	.|0.48286	.|D	.|0.000191	T|T	0.37732|0.37732	0.1014|0.1014	N|N	0.16130|0.16130	0.375|0.375	0.80722|0.80722	D|D	1|1	.|B;B	.|0.06786	.|0.0;0.001	.|B;B	.|0.09377	.|0.004;0.004	T|T	0.22138|0.22138	-1.0225|-1.0225	5|10	.|0.14656	.|T	.|0.56	-17.1594|-17.1594	6.3019|6.3019	0.21117|0.21117	0.1459:0.0875:0.0:0.7665|0.1459:0.0875:0.0:0.7665	.|.	.|215;224	.|B4E0G0;O43502	.|.;RA51C_HUMAN	S|H	103|224;156	.|ENSP00000336701:Y224H;ENSP00000407282:Y156H	.|ENSP00000336701:Y224H	L|Y	+|+	2|1	0|0	RAD51C|RAD51C	54135654|54135654	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	2.074000|2.074000	0.41529|0.41529	2.136000|2.136000	0.66102|0.66102	0.455000|0.455000	0.32223|0.32223	TTA|TAT		0.348	RAD51C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280540.2		NM_058216		24	42	0	0	0	0.003954	0	24	42		
TRIM37	4591	broad.mit.edu	37	17	57181659	57181659	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:57181659T>C	ENST00000262294.7	-	2	377	c.118A>G	c.(118-120)Att>Gtt	p.I40V	TRIM37_ENST00000393066.3_Missense_Mutation_p.I40V|TRIM37_ENST00000376149.3_5'UTR|TRIM37_ENST00000584889.1_Missense_Mutation_p.I40V|TRIM37_ENST00000393065.2_Intron|AC099850.1_ENST00000451775.1_RNA	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	40					aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					CTTACCCTAATACAGCTGAAA	0.353									Mulibrey Nanism																													uc002iwy.3		NaN																	0				lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1)	7						c.(118-120)ATT>GTT		tripartite motif-containing 37 protein							76.0	68.0	71.0					17																	57181659		2203	4300	6503	SO:0001583	missense	4591	Mulibrey_Nanism	Familial Cancer Database	Perheentupa syndrome		perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding	g.chr17:57181659T>C	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.118A>G	17.37:g.57181659T>C	ENSP00000262294:p.Ile40Val					TRIM37_uc002iwz.3_Missense_Mutation_p.I40V|TRIM37_uc002ixa.3_5'UTR|TRIM37_uc010woc.1_Intron|uc002ixb.2_5'Flank	p.I40V	NM_001005207	NP_001005207	O94972	TRI37_HUMAN			2	562	-	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		40			RING-type; degenerate.		Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	ENST00000262294.7	37	c.118A>G	CCDS32694.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.361901	0.82353	.	.	ENSG00000108395	ENST00000393066;ENST00000262294	T;T	0.25085	1.82;1.82	5.26	5.26	0.73747	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	T	0.41834	0.1176	M	0.75884	2.315	0.80722	D	1	P	0.45569	0.861	P	0.49953	0.627	T	0.40403	-0.9565	10	0.62326	D	0.03	-21.3698	14.4948	0.67680	0.0:0.0:0.0:1.0	.	40	O94972	TRI37_HUMAN	V	40	ENSP00000376785:I40V;ENSP00000262294:I40V	ENSP00000262294:I40V	I	-	1	0	TRIM37	54536441	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.634000	0.83273	2.113000	0.64589	0.524000	0.50904	ATT		0.353	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1		NM_015294		8	26	0	0	0	0.004482	0	8	26		
KCNH6	81033	broad.mit.edu	37	17	61615788	61615788	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:61615788C>T	ENST00000583023.1	+	8	1730	c.1719C>T	c.(1717-1719)ccC>ccT	p.P573P	KCNH6_ENST00000456941.2_Silent_p.P520P|KCNH6_ENST00000314672.5_Silent_p.P573P|KCNH6_ENST00000581784.1_Silent_p.P520P	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	573					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	AGGGCTTCCCCGAGTGCCTGC	0.731																																						uc002jay.2		NaN																	0				skin(1)	1						c.(1717-1719)CCC>CCT		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)						8.0	8.0	8.0					17																	61615788		2156	4229	6385	SO:0001819	synonymous_variant	81033				regulation of transcription, DNA-dependent|signal transduction			g.chr17:61615788C>T	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.1719C>T	17.37:g.61615788C>T						KCNH6_uc010wpl.1_Silent_p.P450P|KCNH6_uc010wpm.1_Silent_p.P573P|KCNH6_uc002jaz.1_Silent_p.P520P	p.P573P	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN			8	1799	+			573			Cytoplasmic (Potential).		Q9BRD7	Silent	SNP	ENST00000583023.1	37	c.1719C>T	CCDS11638.1																																																																																				0.731	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1		NM_030779		8	13	0	0	0	0.008291	0	8	13		
POLG2	11232	broad.mit.edu	37	17	62493064	62493064	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:62493064C>T	ENST00000539111.2	-	1	90	c.23G>A	c.(22-24)aGg>aAg	p.R8K		NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	8					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)	extracellular vesicular exosome (GO:0070062)|mitochondrial chromosome (GO:0000262)|mitochondrial nucleoid (GO:0042645)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			ATGGCAGGCCCTGACGGCTAC	0.567																																					Colon(3;18 21 435 17652 48887)	uc002jei.2		NaN																	0				central_nervous_system(1)	1						c.(22-24)AGG>AAG		DNA polymerase subunit gamma-2, mitochondrial							52.0	51.0	52.0					17																	62493064		2203	4299	6502	SO:0001583	missense	11232				DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding	g.chr17:62493064C>T	U94703	CCDS32706.1	17q23.3	2012-05-18			ENSG00000256525	ENSG00000256525		"""DNA polymerases"""	9180	protein-coding gene	gene with protein product		604983				9153213	Standard	NM_007215		Approved	MTPOLB, HP55	uc002jei.3	Q9UHN1		ENST00000539111.2:c.23G>A	17.37:g.62493064C>T	ENSP00000442563:p.Arg8Lys					POLG2_uc010deg.1_Missense_Mutation_p.R8K	p.R8K	NM_007215	NP_009146	Q9UHN1	DPOG2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;4.97e-11)		1	106	-	Breast(5;2.15e-14)		8					O00419|Q0IJ81|Q96GW2|Q9UK35|Q9UK94	Missense_Mutation	SNP	ENST00000539111.2	37	c.23G>A	CCDS32706.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.431160	0.62844	.	.	ENSG00000256525	ENST00000539111	D	0.90732	-2.72	4.45	3.48	0.39840	.	0.268520	0.31859	N	0.006941	D	0.85279	0.5660	L	0.46157	1.445	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.06405	0.001;0.002	T	0.75065	-0.3449	10	0.42905	T	0.14	-8.2255	8.2999	0.32008	0.0:0.6794:0.2318:0.0888	.	8;8	E5KS15;Q9UHN1	.;DPOG2_HUMAN	K	8	ENSP00000442563:R8K	ENSP00000442563:R8K	R	-	2	0	POLG2	59923526	0.010000	0.17322	0.698000	0.30274	0.426000	0.31534	2.384000	0.44362	1.114000	0.41781	-0.258000	0.10820	AGG		0.567	POLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443820.1		NM_007215		16	53	0	0	0	0.006122	0	16	53		
BTBD17	388419	broad.mit.edu	37	17	72352856	72352856	+	Silent	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:72352856G>T	ENST00000375366.3	-	3	1503	c.1377C>A	c.(1375-1377)gcC>gcA	p.A459A		NM_001080466.1	NP_001073935.1	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17	459					negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				endometrium(1)|kidney(1)|lung(4)	6						GCAGGTGCAGGGCGTTCTCAA	0.647																																						uc002jkn.2		NaN																	0					0						c.(1375-1377)GCC>GCA		BTB (POZ) domain containing 17 precursor							78.0	74.0	75.0					17																	72352856		2203	4300	6503	SO:0001819	synonymous_variant	388419					extracellular region		g.chr17:72352856G>T		CCDS32719.1	17q25.1	2013-01-08			ENSG00000204347	ENSG00000204347		"""BTB/POZ domain containing"""	33758	protein-coding gene	gene with protein product	"""transport and golgi organization 10 homolog A (Drosophila)"""						Standard	NM_001080466		Approved	LGALS3BPL, BTBD17A, TANGO10A	uc002jkn.2	A6NE02	OTTHUMG00000178580	ENST00000375366.3:c.1377C>A	17.37:g.72352856G>T							p.A459A	NM_001080466	NP_001073935	A6NE02	BTBDH_HUMAN			3	1377	-			459						Silent	SNP	ENST00000375366.3	37	c.1377C>A	CCDS32719.1																																																																																				0.647	BTBD17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442542.1		NM_001080466		20	72	1	0	2.98393e-07	0.00278	3.13295e-07	20	72		
GRIN2C	2905	broad.mit.edu	37	17	72848655	72848655	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:72848655G>A	ENST00000293190.5	-	3	641	c.495C>T	c.(493-495)ttC>ttT	p.F165F	GRIN2C_ENST00000578159.1_5'UTR|GRIN2C_ENST00000347612.4_Silent_p.F165F	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	165					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGATGACGGCGAAGGCGCTCC	0.701																																						uc002jlt.1		NaN																	0				ovary(2)|breast(2)	4						c.(493-495)TTC>TTT		N-methyl-D-aspartate receptor subunit 2C	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)						15.0	18.0	17.0					17																	72848655		2183	4281	6464	SO:0001819	synonymous_variant	2905				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity	g.chr17:72848655G>A		CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.495C>T	17.37:g.72848655G>A						GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Silent_p.F165F|GRIN2C_uc002jlv.1_3'UTR	p.F165F	NM_000835	NP_000826	Q14957	NMDE3_HUMAN			3	651	-	all_lung(278;0.172)|Lung NSC(278;0.207)		165			Extracellular (Potential).		B2RTT1	Silent	SNP	ENST00000293190.5	37	c.495C>T	CCDS32724.1																																																																																				0.701	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1				6	17	0	0	0	0.004482	0	6	17		
CASKIN2	57513	broad.mit.edu	37	17	73498946	73498946	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:73498946C>G	ENST00000321617.3	-	18	2795	c.2209G>C	c.(2209-2211)Gag>Cag	p.E737Q	CASKIN2_ENST00000433559.2_Missense_Mutation_p.E655Q	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	737	Pro-rich.					cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGGGGCCGCTCTGTGCCCTCT	0.657																																						uc002joc.2		NaN																	0				pancreas(1)	1						c.(2209-2211)GAG>CAG		cask-interacting protein 2 isoform a							19.0	22.0	21.0					17																	73498946		2131	4211	6342	SO:0001583	missense	57513					cytoplasm		g.chr17:73498946C>G	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.2209G>C	17.37:g.73498946C>G	ENSP00000325355:p.Glu737Gln					CASKIN2_uc010wsc.1_Missense_Mutation_p.E655Q	p.E737Q	NM_020753	NP_065804	Q8WXE0	CSKI2_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		18	2759	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		737			Pro-rich.		B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Missense_Mutation	SNP	ENST00000321617.3	37	c.2209G>C	CCDS11723.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.090100	0.36855	.	.	ENSG00000177303	ENST00000321617;ENST00000433559	T;T	0.70516	-0.49;-0.29	4.81	4.81	0.61882	.	0.000000	0.46758	D	0.000262	T	0.69984	0.3172	L	0.40543	1.245	0.80722	D	1	D	0.56035	0.974	P	0.49140	0.601	T	0.72037	-0.4411	10	0.46703	T	0.11	.	17.0481	0.86510	0.0:1.0:0.0:0.0	.	737	Q8WXE0	CSKI2_HUMAN	Q	737;655	ENSP00000325355:E737Q;ENSP00000406963:E655Q	ENSP00000325355:E737Q	E	-	1	0	CASKIN2	71010541	1.000000	0.71417	0.998000	0.56505	0.848000	0.48234	4.416000	0.59815	2.504000	0.84457	0.561000	0.74099	GAG		0.657	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1		NM_020753		4	27	0	0	0	0.000602	0	4	27		
TSEN54	283989	broad.mit.edu	37	17	73515107	73515107	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:73515107T>C	ENST00000333213.6	+	6	536	c.500T>C	c.(499-501)gTg>gCg	p.V167A	TSEN54_ENST00000580013.1_3'UTR	NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	TSEN54 tRNA splicing endonuclease subunit	167					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTGGGTTATGTGGTTCGACGA	0.453																																						uc002jof.1		NaN																	0				ovary(1)	1						c.(499-501)GTG>GCG		tRNA splicing endonuclease 54 homolog							237.0	213.0	221.0					17																	73515107		2203	4300	6503	SO:0001583	missense	283989				mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	nucleolus		g.chr17:73515107T>C	AK097583	CCDS11724.1	17q25.1	2013-08-06	2013-08-06		ENSG00000182173	ENSG00000182173		"""tRNA splicing endonuclease subunits"""	27561	protein-coding gene	gene with protein product		608755	"""tRNA splicing endonuclease 54 homolog (SEN54, S. cerevisiae)"", ""tRNA splicing endonuclease 54 homolog (S. cerevisiae)"""			15109492	Standard	NM_207346		Approved	SEN54, SEN54L	uc002jof.1	Q7Z6J9		ENST00000333213.6:c.500T>C	17.37:g.73515107T>C	ENSP00000327487:p.Val167Ala					TSEN54_uc002joe.1_Silent_p.C164C	p.V167A	NM_207346	NP_997229	Q7Z6J9	SEN54_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		6	533	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		167					Q86WV3|Q86XE4|Q8N9H2	Missense_Mutation	SNP	ENST00000333213.6	37	c.500T>C	CCDS11724.1	.	.	.	.	.	.	.	.	.	.	T	15.51	2.853723	0.51270	.	.	ENSG00000182173	ENST00000434205;ENST00000333213	T;T	0.66099	-0.19;0.16	5.28	5.28	0.74379	.	0.459756	0.22239	N	0.062714	T	0.61813	0.2377	M	0.62266	1.93	0.53005	D	0.999963	B	0.21381	0.055	B	0.21708	0.036	T	0.60974	-0.7156	10	0.51188	T	0.08	-21.5005	15.5073	0.75750	0.0:0.0:0.0:1.0	.	167	Q7Z6J9	SEN54_HUMAN	A	66;167	ENSP00000406559:V66A;ENSP00000327487:V167A	ENSP00000327487:V167A	V	+	2	0	TSEN54	71026702	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.668000	0.74457	2.117000	0.64856	0.460000	0.39030	GTG		0.453	TSEN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447618.1		NM_207346		43	72	0	0	0	0.01441	0	43	72		
UNK	85451	broad.mit.edu	37	17	73813469	73813469	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:73813469C>T	ENST00000589666.1	+	9	1277	c.1167C>T	c.(1165-1167)tcC>tcT	p.S389S	UNK_ENST00000293218.3_Silent_p.S465S|RP11-552F3.4_ENST00000586808.1_RNA	NM_001080419.2	NP_001073888.2	Q9C0B0	UNK_HUMAN	unkempt family zinc finger	389							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			CACCGGGCTCCATCAGGAAGC	0.657																																						uc002jpm.2		NaN																	0					0						c.(1393-1395)TCC>TCT		zinc finger CCCH-type domain containing 5							46.0	51.0	50.0					17																	73813469		1885	4092	5977	SO:0001819	synonymous_variant	85451						nucleic acid binding|zinc ion binding	g.chr17:73813469C>T	AB051540	CCDS45778.1, CCDS45778.2	17q25.3	2013-10-17	2013-10-17	2007-02-06		ENSG00000132478		"""Zinc fingers, CCCH-type domain containing"""	29369	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 5"", ""zinc finger CCCH-type containing 5"", ""unkempt homolog (Drosophila)"""	ZC3HDC5, ZC3H5		11214970	Standard	NM_001080419		Approved	KIAA1753	uc021udd.2	Q9C0B0		ENST00000589666.1:c.1167C>T	17.37:g.73813469C>T							p.S465S	NM_001080419	NP_001073888	Q9C0B0	UNK_HUMAN	all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)		10	1395	+			389						Silent	SNP	ENST00000589666.1	37	c.1395C>T	CCDS45778.2																																																																																				0.657	UNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448835.1		NM_001080419		20	83	0	0	0	0.00278	0	20	83		
QRICH2	84074	broad.mit.edu	37	17	74288992	74288992	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:74288992C>A	ENST00000262765.5	-	4	1497	c.1318G>T	c.(1318-1320)Gat>Tat	p.D440Y		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	440	Gln-rich.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						ccagactgatccattccaggc	0.567																																						uc002jrd.1		NaN																	0				ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)|skin(1)	5						c.(1318-1320)GAT>TAT		glutamine rich 2							98.0	93.0	95.0					17																	74288992		2203	4300	6503	SO:0001583	missense	84074						protein binding	g.chr17:74288992C>A	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.1318G>T	17.37:g.74288992C>A	ENSP00000262765:p.Asp440Tyr					QRICH2_uc010wsz.1_Missense_Mutation_p.D366Y|QRICH2_uc010dgw.1_Intron	p.D440Y	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN			4	1498	-			440			Gln-rich.		A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	c.1318G>T	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	C	9.378	1.072188	0.20147	.	.	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.08896	3.04	5.21	0.597	0.17504	.	.	.	.	.	T	0.08891	0.0220	N	0.19112	0.55	0.09310	N	1	D;B	0.61080	0.989;0.138	P;B	0.58172	0.834;0.014	T	0.34601	-0.9822	9	0.14656	T	0.56	0.0274	6.3016	0.21115	0.0:0.5371:0.2903:0.1726	.	440;440	B5MD94;Q9H0J4	.;QRIC2_HUMAN	Y	440	ENSP00000262765:D440Y	ENSP00000262765:D440Y	D	-	1	0	QRICH2	71800587	0.000000	0.05858	0.003000	0.11579	0.146000	0.21551	-0.093000	0.11111	0.642000	0.30620	0.591000	0.81541	GAT		0.567	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1		NM_032134		9	20	1	0	0.000442599	0.006214	0.000456911	9	20		
TMC8	147138	broad.mit.edu	37	17	76134245	76134245	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:76134245C>T	ENST00000318430.5	+	12	1883	c.1509C>T	c.(1507-1509)ctC>ctT	p.L503L	TMC8_ENST00000589691.1_Silent_p.L280L	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	503					ion transport (GO:0006811)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|regulation of cell growth (GO:0001558)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|zinc ion homeostasis (GO:0055069)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			GCGTCTTCCTCTTCCTCACCT	0.617																																						uc002jup.2		NaN																	0					0						c.(1507-1509)CTC>CTT		transmembrane channel-like 8							73.0	75.0	74.0					17																	76134245		2203	4300	6503	SO:0001819	synonymous_variant	147138	Epidermodysplasia_Verruciformis_Familial_Clustering_of				endoplasmic reticulum membrane|integral to membrane		g.chr17:76134245C>T	AY057380	CCDS32749.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000167895	ENSG00000167895			20474	protein-coding gene	gene with protein product		605829	"""epidermodysplasia verruciformis 2"""	EVER2		12426567	Standard	NM_152468		Approved	EVIN2	uc002jup.2	Q8IU68		ENST00000318430.5:c.1509C>T	17.37:g.76134245C>T						TMC8_uc002juq.2_Silent_p.L280L|TMC8_uc010wtr.1_3'UTR|TMC8_uc002jur.1_5'UTR	p.L503L	NM_152468	NP_689681	Q8IU68	TMC8_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)		12	1891	+			503			Helical; (Potential).		Q2YDC0|Q8IWU7|Q8N358|Q8NF04	Silent	SNP	ENST00000318430.5	37	c.1509C>T	CCDS32749.1																																																																																				0.617	TMC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436900.3				13	66	0	0	0	0.00245	0	13	66		
DNAH17	8632	broad.mit.edu	37	17	76430168	76430168	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:76430168T>C	ENST00000585328.1	-	75	12276	c.12152A>G	c.(12151-12153)aAc>aGc	p.N4051S	DNAH17_ENST00000389840.5_Missense_Mutation_p.N4050S|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	4050	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GAGGTCCCCGTTGTTGAAGGG	0.597																																						uc010dhp.1		NaN																	0				ovary(6)|breast(2)|skin(1)	9						c.(3166-3168)AAC>AGC		SubName: Full=DNAH17 variant protein; Flags: Fragment;							252.0	208.0	223.0					17																	76430168		2203	4300	6503	SO:0001583	missense	8632							g.chr17:76430168T>C	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.12152A>G	17.37:g.76430168T>C	ENSP00000465516:p.Asn4051Ser					DNAH17_uc002jvq.2_Missense_Mutation_p.N341S|DNAH17_uc002jvs.2_RNA	p.N1056S					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		20	3389	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.3167A>G		.	.	.	.	.	.	.	.	.	.	T	14.55	2.567870	0.45798	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.08193	3.12	5.44	4.33	0.51752	.	0.280706	0.30320	N	0.009896	T	0.04770	0.0129	N	0.11845	0.185	0.26395	N	0.976515	B	0.02656	0.0	B	0.12156	0.007	T	0.41520	-0.9504	10	0.12430	T	0.62	.	11.281	0.49195	0.0:0.0:0.2914:0.7086	.	4051	E7EUM8	.	S	4051;4050	ENSP00000374490:N4050S	ENSP00000300671:N4051S	N	-	2	0	DNAH17	73941763	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.802000	0.47916	0.863000	0.35553	0.454000	0.30748	AAC		0.597	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2		NM_173628		30	126	0	0	0	0.013726	0	30	126		
SLC38A10	124565	broad.mit.edu	37	17	79220205	79220205	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:79220205C>T	ENST00000374759.3	-	16	2894	c.2511G>A	c.(2509-2511)caG>caA	p.Q837Q		NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	837					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CGGCATCCTTCTGGCCATCTC	0.716																																						uc002jzz.1		NaN																	0				pancreas(1)|skin(1)	2						c.(2509-2511)CAG>CAA		solute carrier family 38, member 10 isoform a							13.0	15.0	15.0					17																	79220205		1849	4082	5931	SO:0001819	synonymous_variant	124565				amino acid transport|sodium ion transport	integral to membrane		g.chr17:79220205C>T	BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"""Solute carriers"""	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.2511G>A	17.37:g.79220205C>T						SLC38A10_uc002jzy.1_Silent_p.Q755Q	p.Q837Q	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		16	2886	-	all_neural(118;0.0804)|Melanoma(429;0.242)		837					Q6ZRC5|Q8NA99|Q96C66	Silent	SNP	ENST00000374759.3	37	c.2511G>A	CCDS42397.1																																																																																				0.716	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1		NM_138570		7	25	0	0	0	0.00308	0	7	25		
SLC38A10	124565	broad.mit.edu	37	17	79257211	79257211	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:79257211G>A	ENST00000374759.3	-	4	738	c.355C>T	c.(355-357)Cag>Tag	p.Q119*	SLC38A10_ENST00000546352.1_5'Flank|SLC38A10_ENST00000288439.5_Nonsense_Mutation_p.Q119*	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	119					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			ATCCTTACCTGAAACCCGAAC	0.602																																						uc002jzz.1		NaN																	0				pancreas(1)|skin(1)	2						c.(355-357)CAG>TAG		solute carrier family 38, member 10 isoform a							83.0	56.0	65.0					17																	79257211		2201	4299	6500	SO:0001587	stop_gained	124565				amino acid transport|sodium ion transport	integral to membrane		g.chr17:79257211G>A	BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"""Solute carriers"""	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.355C>T	17.37:g.79257211G>A	ENSP00000363891:p.Gln119*					SLC38A10_uc002jzy.1_Nonsense_Mutation_p.Q37*|SLC38A10_uc002kab.2_Nonsense_Mutation_p.Q119*	p.Q119*	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		4	730	-	all_neural(118;0.0804)|Melanoma(429;0.242)		119					Q6ZRC5|Q8NA99|Q96C66	Nonsense_Mutation	SNP	ENST00000374759.3	37	c.355C>T	CCDS42397.1	.	.	.	.	.	.	.	.	.	.	G	39	7.784862	0.98489	.	.	ENSG00000157637	ENST00000374759;ENST00000288439;ENST00000539748	.	.	.	4.76	3.72	0.42706	.	5.897720	0.00166	N	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-14.5591	15.4812	0.75528	0.0:0.1387:0.8613:0.0	.	.	.	.	X	119;119;71	.	ENSP00000288439:Q119X	Q	-	1	0	SLC38A10	76871806	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	5.777000	0.68931	2.334000	0.79466	0.561000	0.74099	CAG		0.602	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1		NM_138570		9	12	0	0	0	0.008291	0	9	12		
ASPSCR1	79058	broad.mit.edu	37	17	79954451	79954451	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:79954451C>T	ENST00000306739.4	+	7	759	c.662C>T	c.(661-663)tCa>tTa	p.S221L	ASPSCR1_ENST00000306729.7_Missense_Mutation_p.S221L|ASPSCR1_ENST00000580534.1_Missense_Mutation_p.S144L	NM_024083.3	NP_076988.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	221					glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|regulation of glucose import (GO:0046324)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)			ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GCGGACACCTCAGGGCCCTGC	0.682			T	TFE3	alveolar soft part sarcoma																																	uc002kcx.2		NaN		Dom	yes		17	17q25	79058	T	"""alveolar soft part sarcoma chromosome region, candidate 1"""			M	TFE3		alveolar soft part sarcoma	ASPSCR1/TFE3(161)	0				soft_tissue(118)|kidney(43)|breast(1)	162						c.(661-663)TCA>TTA		alveolar soft part sarcoma chromosome region,							28.0	34.0	32.0					17																	79954451		2203	4299	6502	SO:0001583	missense	79058						protein binding	g.chr17:79954451C>T	AF324219	CCDS11796.1, CCDS58611.1	17q25	2011-06-28				ENSG00000169696		"""UBX domain containing"""	13825	protein-coding gene	gene with protein product	"""UBX domain protein 9"""	606236				11244503, 10506710	Standard	NM_024083		Approved	ASPS, ASPL, UBXD9, UBXN9	uc002kcy.3	Q9BZE9		ENST00000306739.4:c.662C>T	17.37:g.79954451C>T	ENSP00000302176:p.Ser221Leu					ASPSCR1_uc002kcw.1_Missense_Mutation_p.S221L|ASPSCR1_uc002kcy.2_Missense_Mutation_p.S221L|ASPSCR1_uc002kcz.2_Intron|ASPSCR1_uc002kda.2_Missense_Mutation_p.S144L|ASPSCR1_uc002kdb.1_Missense_Mutation_p.S144L	p.S221L	NM_024083	NP_076988	Q9BZE9	ASPC1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		7	759	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		221					A8K3K9|Q7Z6N7|Q8WV59|Q96LS5|Q96M40	Missense_Mutation	SNP	ENST00000306739.4	37	c.662C>T	CCDS11796.1	.	.	.	.	.	.	.	.	.	.	C	9.813	1.183656	0.21870	.	.	ENSG00000169696	ENST00000306739;ENST00000306729;ENST00000344865	T;T	0.34472	1.36;1.36	4.65	2.67	0.31697	.	2.007140	0.02165	N	0.059127	T	0.33962	0.0881	L	0.45581	1.43	0.09310	N	1	B;B;B;B	0.09022	0.002;0.001;0.0;0.0	B;B;B;B	0.09377	0.003;0.004;0.001;0.003	T	0.14839	-1.0458	10	0.27082	T	0.32	0.023	7.0742	0.25195	0.0:0.7955:0.0:0.2045	.	144;221;221;144	Q9BZE9-3;Q9BZE9-2;Q9BZE9;C9JAL9	.;.;ASPC1_HUMAN;.	L	221;221;144	ENSP00000302176:S221L;ENSP00000306625:S221L	ENSP00000306625:S221L	S	+	2	0	ASPSCR1	77547740	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.500000	0.22562	0.598000	0.29829	-0.263000	0.10527	TCA		0.682	ASPSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441972.1		NM_024083		6	23	0	0	0	0.001168	0	6	23		
TBCD	6904	broad.mit.edu	37	17	80899327	80899327	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:80899327C>T	ENST00000355528.4	+	38	3662	c.3532C>T	c.(3532-3534)Ctg>Ttg	p.L1178L	TBCD_ENST00000539345.2_Silent_p.L1216L|TBCD_ENST00000576691.1_3'UTR	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	1178					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GTGTGACCTTCTGGGCGTACC	0.627																																						uc002kfz.2		NaN																	0					0						c.(3532-3534)CTG>TTG		beta-tubulin cofactor D							50.0	63.0	59.0					17																	80899327		2105	4224	6329	SO:0001819	synonymous_variant	6904				'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity	g.chr17:80899327C>T	BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"""tubulin-specific chaperone d"""				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.3532C>T	17.37:g.80899327C>T						TBCD_uc002kfy.1_Silent_p.L1216L|TBCD_uc002kgc.2_Silent_p.L297L|TBCD_uc002kgd.2_Silent_p.L170L	p.L1178L	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)		38	3662	+	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	1178					O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Silent	SNP	ENST00000355528.4	37	c.3532C>T	CCDS45818.1																																																																																				0.627	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1		NM_005993		3	8	0	0	0	0.004672	0	3	8		
YES1	7525	broad.mit.edu	37	18	724590	724590	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr18:724590T>C	ENST00000584307.1	-	12	1636	c.1466A>G	c.(1465-1467)tAc>tGc	p.Y489C	YES1_ENST00000577961.1_Missense_Mutation_p.Y494C|YES1_ENST00000314574.4_Missense_Mutation_p.Y489C			P07947	YES_HUMAN	YES proto-oncogene 1, Src family tyrosine kinase	489	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glucose transport (GO:0015758)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|regulation of vascular permeability (GO:0043114)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	CGGCATCCTGTATCCTCGCTC	0.413																																						uc002kky.2		NaN																	0				lung(2)|ovary(1)	3						c.(1465-1467)TAC>TGC		viral oncogene yes-1 homolog 1	Dasatinib(DB01254)						92.0	93.0	93.0					18																	724590		2203	4300	6503	SO:0001583	missense	7525				blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity	g.chr18:724590T>C	M15990	CCDS11824.1	18p11.31-p11.21	2014-06-26	2014-06-26		ENSG00000176105	ENSG00000176105		"""SH2 domain containing"""	12841	protein-coding gene	gene with protein product		164880	"""v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1"""			2983418	Standard	NM_005433		Approved	Yes, c-yes, HsT441	uc002kky.3	P07947	OTTHUMG00000131472	ENST00000584307.1:c.1466A>G	18.37:g.724590T>C	ENSP00000462468:p.Tyr489Cys					YES1_uc002kkz.2_Missense_Mutation_p.Y489C	p.Y489C	NM_005433	NP_005424	P07947	YES_HUMAN			12	1687	-			489			Protein kinase.		A6NLB3|D3DUH1	Missense_Mutation	SNP	ENST00000584307.1	37	c.1466A>G	CCDS11824.1	.	.	.	.	.	.	.	.	.	.	T	18.33	3.600492	0.66332	.	.	ENSG00000176105	ENST00000359834;ENST00000314574	D	0.83591	-1.74	4.95	4.95	0.65309	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.90106	0.6909	M	0.70842	2.15	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91377	0.5124	10	0.87932	D	0	.	14.9038	0.70703	0.0:0.0:0.0:1.0	.	489	P07947	YES_HUMAN	C	489	ENSP00000324740:Y489C	ENSP00000324740:Y489C	Y	-	2	0	YES1	714590	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	7.758000	0.85224	1.997000	0.58415	0.482000	0.46254	TAC		0.413	YES1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440827.2		NM_005433		23	58	0	0	0	0.00278	0	23	58		
SMCHD1	23347	broad.mit.edu	37	18	2750410	2750410	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr18:2750410T>C	ENST00000320876.6	+	32	4408	c.4070T>C	c.(4069-4071)aTt>aCt	p.I1357T	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.I1357T	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1357					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GGACCTATAATTAAGTTAATG	0.383																																						uc002klm.3		NaN																	0					0						c.(4069-4071)ATT>ACT		structural maintenance of chromosomes flexible							52.0	49.0	50.0					18																	2750410		1816	4082	5898	SO:0001583	missense	23347				chromosome organization		ATP binding	g.chr18:2750410T>C	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.4070T>C	18.37:g.2750410T>C	ENSP00000326603:p.Ile1357Thr					SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_RNA	p.I1357T	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN			32	4259	+			1357					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	c.4070T>C	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	T	16.03	3.006457	0.54361	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.29142	1.58;1.6	5.76	4.61	0.57282	.	0.131150	0.52532	D	0.000065	T	0.31670	0.0804	M	0.62723	1.935	0.32741	N	0.507718	B	0.18310	0.027	B	0.12837	0.008	T	0.40813	-0.9543	10	0.87932	D	0	-17.6759	10.7954	0.46457	0.0:0.0753:0.0:0.9247	.	1357	A6NHR9	SMHD1_HUMAN	T	1357	ENSP00000326603:I1357T;ENSP00000261598:I1357T	ENSP00000261598:I1357T	I	+	2	0	SMCHD1	2740410	1.000000	0.71417	0.991000	0.47740	0.622000	0.37654	5.543000	0.67225	1.018000	0.39521	0.482000	0.46254	ATT		0.383	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2				11	29	0	0	0	0.010729	0	11	29		
AFG3L2	10939	broad.mit.edu	37	18	12337383	12337383	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr18:12337383C>G	ENST00000269143.3	-	16	2363	c.2132G>C	c.(2131-2133)aGa>aCa	p.R711T		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	711					axonogenesis (GO:0007409)|cell death (GO:0008219)|cristae formation (GO:0042407)|mitochondrial fusion (GO:0008053)|mitochondrial protein processing (GO:0034982)|muscle fiber development (GO:0048747)|myelination (GO:0042552)|nerve development (GO:0021675)|neuromuscular junction development (GO:0007528)|regulation of multicellular organism growth (GO:0040014)|righting reflex (GO:0060013)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)	p.R711I(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	AGCTACTGTTCTTTTATAAGC	0.393																																						uc002kqz.1		NaN																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(2131-2133)AGA>ACA		AFG3 ATPase family gene 3-like 2	Adenosine triphosphate(DB00171)						133.0	128.0	130.0					18																	12337383		2203	4300	6503	SO:0001583	missense	10939				cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr18:12337383C>G	Y18314	CCDS11859.1	18p11.21	2014-09-17	2013-10-17		ENSG00000141385	ENSG00000141385		"""ATPases / AAA-type"""	315	protein-coding gene	gene with protein product		604581	"""AFG3 (ATPase family gene 3, yeast)-like 2"", ""spinocerebellar ataxia 28"", ""AFG3 ATPase family gene 3-like 2 (yeast)"", ""AFG3 ATPase family gene 3-like 2 (S. cerevisiae)"", ""AFG3 ATPase family member 3-like 2 (S. cerevisiae)"""	SCA28		10395799, 18769991	Standard	NM_006796		Approved	SPAX5	uc002kqz.2	Q9Y4W6	OTTHUMG00000131695	ENST00000269143.3:c.2132G>C	18.37:g.12337383C>G	ENSP00000269143:p.Arg711Thr						p.R711T	NM_006796	NP_006787	Q9Y4W6	AFG32_HUMAN			16	2245	-			711					Q6P1L0	Missense_Mutation	SNP	ENST00000269143.3	37	c.2132G>C	CCDS11859.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.155215	0.78114	.	.	ENSG00000141385	ENST00000269143;ENST00000537174	D	0.83914	-1.78	5.62	5.62	0.85841	Peptidase M41 (1);Peptidase M41, FtsH (2);	0.043472	0.85682	D	0.000000	D	0.87269	0.6135	M	0.76938	2.355	0.80722	D	1	B	0.32573	0.376	B	0.40329	0.326	D	0.86848	0.2021	10	0.62326	D	0.03	.	19.6586	0.95855	0.0:1.0:0.0:0.0	.	711	Q9Y4W6	AFG32_HUMAN	T	711;726	ENSP00000269143:R711T	ENSP00000269143:R711T	R	-	2	0	AFG3L2	12327383	0.977000	0.34250	0.997000	0.53966	0.996000	0.88848	3.540000	0.53611	2.656000	0.90262	0.655000	0.94253	AGA		0.393	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254603.2		NM_006796		22	38	0	0	0	0.00333	0	22	38		
POTEC	388468	broad.mit.edu	37	18	14534973	14534973	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr18:14534973C>T	ENST00000358970.5	-	4	843	c.844G>A	c.(844-846)Gaa>Aaa	p.E282K	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	282										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGTTTTTGTTCATGTACGCCA	0.303																																						uc010dln.2		NaN																	0				skin(3)	3						c.(844-846)GAA>AAA		ANKRD26-like family B, member 2							15.0	17.0	16.0					18																	14534973		685	1572	2257	SO:0001583	missense	388468							g.chr18:14534973C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.844G>A	18.37:g.14534973C>T	ENSP00000351856:p.Glu282Lys					POTEC_uc010xaj.1_RNA	p.E282K	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN			4	1298	-			282			ANK 5.			Missense_Mutation	SNP	ENST00000358970.5	37	c.844G>A	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	C	7.623	0.677257	0.14841	.	.	ENSG00000183206	ENST00000358970;ENST00000389891	T	0.63580	-0.05	1.73	1.73	0.24493	Ankyrin repeat-containing domain (3);	.	.	.	.	T	0.35913	0.0948	N	0.11364	0.135	0.09310	N	1	P	0.36354	0.549	B	0.35182	0.197	T	0.14896	-1.0456	9	0.13853	T	0.58	.	6.9499	0.24540	0.0:1.0:0.0:0.0	.	282	B2RU33	POTEC_HUMAN	K	282	ENSP00000351856:E282K	ENSP00000351856:E282K	E	-	1	0	POTEC	14524973	0.291000	0.24352	0.001000	0.08648	0.009000	0.06853	1.806000	0.38892	1.278000	0.44430	0.194000	0.17425	GAA		0.303	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1		XM_496269		5	56	0	0	0	0.006214	0	5	56		
C18orf8	29919	broad.mit.edu	37	18	21084405	21084405	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr18:21084405C>G	ENST00000269221.3	+	2	283	c.173C>G	c.(172-174)tCa>tGa	p.S58*	C18orf8_ENST00000590868.1_Nonsense_Mutation_p.S58*	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	58						lysosomal membrane (GO:0005765)				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AATCCCATCTCATTTAGGTAA	0.378																																						uc010xax.1		NaN																	0				ovary(1)	1						c.(172-174)TCA>TGA		colon cancer-associated protein Mic1							191.0	170.0	177.0					18																	21084405		2203	4300	6503	SO:0001587	stop_gained	29919							g.chr18:21084405C>G	AK057192	CCDS32803.1, CCDS74199.1	18q11.2	2013-12-13			ENSG00000141452	ENSG00000141452			24326	protein-coding gene	gene with protein product	"""colon cancer associated protein Mic1"", ""macrophage inhibitory cytokine 1"""					12477932	Standard	NM_013326		Approved	MIC1, MIC-1, HsT2591	uc021uie.2	Q96DM3		ENST00000269221.3:c.173C>G	18.37:g.21084405C>G	ENSP00000269221:p.Ser58*					C18orf8_uc010xau.1_5'UTR|C18orf8_uc010xav.1_Nonsense_Mutation_p.S58*|C18orf8_uc010xaw.1_5'UTR|C18orf8_uc002kul.2_RNA	p.S58*	NM_013326	NP_037458	Q96DM3	MIC1_HUMAN			2	294	+	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)		58					Q9BU17|Q9Y5M0	Nonsense_Mutation	SNP	ENST00000269221.3	37	c.173C>G	CCDS32803.1	.	.	.	.	.	.	.	.	.	.	C	37	6.323114	0.97471	.	.	ENSG00000141452	ENST00000269221;ENST00000540942	.	.	.	4.34	4.34	0.51931	.	0.123078	0.56097	D	0.000032	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-10.0947	13.049	0.58944	0.0:0.8382:0.1617:0.0	.	.	.	.	X	58	.	ENSP00000269221:S58X	S	+	2	0	C18orf8	19338403	1.000000	0.71417	0.996000	0.52242	0.968000	0.65278	5.195000	0.65131	2.130000	0.65690	0.655000	0.94253	TCA		0.378	C18orf8-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445386.1		NM_013326		29	83	0	0	0	0.013726	0	29	83		
NPC1	4864	broad.mit.edu	37	18	21148963	21148963	+	Splice_Site	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr18:21148963C>T	ENST00000269228.5	-	4	842		c.e4-1		NPC1_ENST00000540608.1_Splice_Site	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1						adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GGATGGACATCTAAAGGAAAA	0.338																																						uc002kum.3		NaN																	0				ovary(2)	2						c.e4-1		Niemann-Pick disease, type C1 precursor							68.0	63.0	65.0					18																	21148963		2203	4300	6503	SO:0001630	splice_region_variant	4864				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity	g.chr18:21148963C>T	AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.288-1G>A	18.37:g.21148963C>T						NPC1_uc010xba.1_Splice_Site	p.R96_splice	NM_000271	NP_000262	O15118	NPC1_HUMAN			4	562	-	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)							B4DET3|Q9P130	Splice_Site	SNP	ENST00000269228.5	37	c.288_splice	CCDS11878.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.678875	0.88542	.	.	ENSG00000141458	ENST00000269228	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3409	0.98764	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NPC1	19402961	1.000000	0.71417	0.997000	0.53966	0.859000	0.49053	7.629000	0.83207	2.814000	0.96858	0.655000	0.94253	.		0.338	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2		NM_000271	Intron	6	16	0	0	0	0.00308	0	6	16		
ZNF521	25925	broad.mit.edu	37	18	22805190	22805190	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr18:22805190C>A	ENST00000361524.3	-	4	2840	c.2692G>T	c.(2692-2694)Gaa>Taa	p.E898*	ZNF521_ENST00000584787.1_Nonsense_Mutation_p.E678*|ZNF521_ENST00000538137.2_Nonsense_Mutation_p.E898*|ZNF521_ENST00000579111.1_5'Flank	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	898					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AGCAAAGTTTCCATAGTGTAG	0.502			T	PAX5	ALL																																	uc002kvk.2		NaN		Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				ovary(4)|large_intestine(2)|lung(1)	7						c.(2692-2694)GAA>TAA		zinc finger protein 521							118.0	112.0	114.0					18																	22805190		2203	4300	6503	SO:0001587	stop_gained	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22805190C>A	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.2692G>T	18.37:g.22805190C>A	ENSP00000354794:p.Glu898*					ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Nonsense_Mutation_p.E898*|ZNF521_uc002kvl.2_Nonsense_Mutation_p.E678*	p.E898*	NM_015461	NP_056276	Q96K83	ZN521_HUMAN			4	2939	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		898			C2H2-type 21; degenerate.		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Nonsense_Mutation	SNP	ENST00000361524.3	37	c.2692G>T	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	C	42	9.728559	0.99249	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	.	.	.	5.83	5.83	0.93111	.	0.050301	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	-30.0015	20.1184	0.97949	0.0:1.0:0.0:0.0	.	.	.	.	X	898;932;898	.	ENSP00000354794:E898X	E	-	1	0	ZNF521	21059188	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.487000	0.81328	2.769000	0.95229	0.655000	0.94253	GAA		0.502	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2		NM_015461		29	35	1	0	1.75199e-13	0.007291	1.88071e-13	29	35		
TRAPPC8	22878	broad.mit.edu	37	18	29419397	29419397	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr18:29419397C>G	ENST00000283351.4	-	27	4196	c.3861G>C	c.(3859-3861)ttG>ttC	p.L1287F	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.L1233F	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	1287					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGAAAAATTTCAATAGTTCCA	0.328																																						uc002kxc.3		NaN																	0					0						c.(3859-3861)TTG>TTC		hypothetical protein LOC22878							97.0	103.0	101.0					18																	29419397		2203	4300	6503	SO:0001583	missense	22878				ER to Golgi vesicle-mediated transport	cis-Golgi network		g.chr18:29419397C>G	AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.3861G>C	18.37:g.29419397C>G	ENSP00000283351:p.Leu1287Phe					KIAA1012_uc002kxb.3_Missense_Mutation_p.L1233F|KIAA1012_uc002kxd.3_RNA	p.L1287F	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN			27	4225	-			1287					A0JP15|B3KME5|Q9H0L2	Missense_Mutation	SNP	ENST00000283351.4	37	c.3861G>C	CCDS11901.1	.	.	.	.	.	.	.	.	.	.	C	9.802	1.180892	0.21787	.	.	ENSG00000153339	ENST00000283351	T	0.18502	2.21	5.29	1.65	0.23941	.	0.000000	0.64402	D	0.000001	T	0.32734	0.0839	M	0.67953	2.075	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.01889	-1.1253	10	0.29301	T	0.29	.	8.5457	0.33419	0.0:0.2281:0.0:0.7719	.	1287	Q9Y2L5	TPPC8_HUMAN	F	1287	ENSP00000283351:L1287F	ENSP00000283351:L1287F	L	-	3	2	TRAPPC8	27673395	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	1.349000	0.33998	0.104000	0.17725	-0.302000	0.09304	TTG		0.328	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1		NM_014939		13	44	0	0	0	0.001855	0	13	44		
KATNAL2	83473	broad.mit.edu	37	18	44595908	44595908	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr18:44595908C>T	ENST00000245121.5	+	10	923	c.729C>T	c.(727-729)ttC>ttT	p.F243F	KATNAL2_ENST00000356157.7_Silent_p.F315F|KATNAL2_ENST00000592005.1_Intron	NM_031303.2	NP_112593.2			katanin p60 subunit A-like 2											central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						AAACAACCTTCTTTAACATTT	0.378																																						uc002lco.2		NaN																	0				ovary(1)|skin(1)|central_nervous_system(1)|pancreas(1)	4						c.(727-729)TTC>TTT		katanin p60 subunit A-like 2							99.0	96.0	97.0					18																	44595908		2203	4300	6503	SO:0001819	synonymous_variant	83473					cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity	g.chr18:44595908C>T	BC034999	CCDS32828.1	18q21.1	2010-04-21			ENSG00000167216	ENSG00000167216		"""ATPases / AAA-type"""	25387	protein-coding gene	gene with protein product		614697				12477932	Standard	NM_031303		Approved	MGC33211, DKFZP667C165	uc002lco.3	Q8IYT4		ENST00000245121.5:c.729C>T	18.37:g.44595908C>T						KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lcp.3_Silent_p.F170F	p.F243F	NM_031303	NP_112593	Q8IYT4	KATL2_HUMAN			10	923	+			315						Silent	SNP	ENST00000245121.5	37	c.729C>T	CCDS32828.1																																																																																				0.378	KATNAL2-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446138.2		NM_031303		16	49	0	0	0	0.004007	0	16	49		
C19orf35	374872	broad.mit.edu	37	19	2276228	2276228	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:2276228G>A	ENST00000342063.3	-	4	966	c.873C>T	c.(871-873)gcC>gcT	p.A291A		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35	291										large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAACTTCAGGGCCGCGCTCA	0.726																																						uc002lvn.2		NaN																	0				pancreas(1)	1						c.(871-873)GCC>GCT		hypothetical protein LOC374872							5.0	6.0	6.0					19																	2276228		2095	4107	6202	SO:0001819	synonymous_variant	374872							g.chr19:2276228G>A	AK127680	CCDS12087.1	19p13.3	2012-10-26			ENSG00000188305	ENSG00000188305			24793	protein-coding gene	gene with protein product							Standard	NM_198532		Approved	FLJ45778	uc002lvn.2	Q6ZS72	OTTHUMG00000178460	ENST00000342063.3:c.873C>T	19.37:g.2276228G>A						SPPL2B_uc010dsw.1_Intron	p.A291A	NM_198532	NP_940934	Q6ZS72	CS035_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	973	-			291						Silent	SNP	ENST00000342063.3	37	c.873C>T	CCDS12087.1																																																																																				0.726	C19orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442080.1		NM_198532		6	3	0	0	0	0.001168	0	6	3		
GTF2F1	2962	broad.mit.edu	37	19	6381161	6381161	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:6381161C>T	ENST00000394456.5	-	10	1528	c.1064G>A	c.(1063-1065)aGc>aAc	p.S355N	PSPN_ENST00000597721.1_5'Flank|GTF2F1_ENST00000429701.2_Missense_Mutation_p.S270N	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	355					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cell junction (GO:0030054)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIF complex (GO:0005674)	catalytic activity (GO:0003824)|DNA binding (GO:0003677)|phosphatase activator activity (GO:0019211)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						GGAGGCCTCGCTGTCAATGTC	0.677																																						uc002meq.2		NaN																	0					0						c.(1063-1065)AGC>AAC		general transcription factor IIF, polypeptide 1,							37.0	30.0	33.0					19																	6381161		2203	4300	6503	SO:0001583	missense	2962				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding	g.chr19:6381161C>T		CCDS12165.1	19p13.3	2010-03-23	2002-08-29		ENSG00000125651	ENSG00000125651		"""General transcription factors"""	4652	protein-coding gene	gene with protein product		189968	"""general transcription factor IIF, polypeptide 1 (74kD subunit)"""			1734284	Standard	NM_002096		Approved	TFIIF, BTF4, RAP74, TF2F1	uc002meq.2	P35269	OTTHUMG00000168087	ENST00000394456.5:c.1064G>A	19.37:g.6381161C>T	ENSP00000377969:p.Ser355Asn					GTF2F1_uc010xjb.1_Missense_Mutation_p.S176N|GTF2F1_uc010xjc.1_Missense_Mutation_p.S270N	p.S355N	NM_002096	NP_002087	P35269	T2FA_HUMAN			10	1349	-			355					B2RCS0|Q9BWN0	Missense_Mutation	SNP	ENST00000394456.5	37	c.1064G>A	CCDS12165.1	.	.	.	.	.	.	.	.	.	.	C	10.20	1.285854	0.23478	.	.	ENSG00000125651	ENST00000394456;ENST00000429701	T;T	0.43294	0.95;0.95	4.65	2.47	0.30058	.	0.119170	0.56097	D	0.000031	T	0.29684	0.0741	L	0.38175	1.15	0.30888	N	0.730691	B;B;B	0.11235	0.004;0.004;0.0	B;B;B	0.12156	0.007;0.007;0.003	T	0.22626	-1.0211	10	0.21540	T	0.41	-14.3426	10.5022	0.44813	0.0:0.8242:0.0:0.1758	.	270;253;355	E7EUG6;B4DDB5;P35269	.;.;T2FA_HUMAN	N	355;270	ENSP00000377969:S355N;ENSP00000392107:S270N	ENSP00000377969:S355N	S	-	2	0	GTF2F1	6332161	0.997000	0.39634	0.514000	0.27761	0.525000	0.34531	3.494000	0.53273	1.081000	0.41110	0.650000	0.86243	AGC		0.677	GTF2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398033.1		NM_002096		7	7	0	0	0	0.00308	0	7	7		
TIMM44	10469	broad.mit.edu	37	19	7992108	7992108	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:7992108C>T	ENST00000270538.3	-	13	1591	c.1323G>A	c.(1321-1323)ctG>ctA	p.L441L	TIMM44_ENST00000598968.1_5'UTR|CTXN1_ENST00000318978.4_5'Flank|CTD-3193O13.8_ENST00000594308.1_RNA	NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	441					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						CCGAGATGTCCAGGAGCCGCC	0.672																																						uc002miz.2		NaN																	0				ovary(1)	1						c.(1321-1323)CTG>CTA		translocase of inner mitochondrial membrane 44							37.0	38.0	37.0					19																	7992108		2203	4300	6503	SO:0001819	synonymous_variant	10469				protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chr19:7992108C>T	AF026030	CCDS12192.1	19p13.3-p13.2	2008-07-04				ENSG00000104980			17316	protein-coding gene	gene with protein product		605058				10848612, 10339406	Standard	NM_006351		Approved	TIM44	uc002miz.3	O43615		ENST00000270538.3:c.1323G>A	19.37:g.7992108C>T						TIMM44_uc002mja.2_Silent_p.L181L|CTXN1_uc002miy.3_5'Flank	p.L441L	NM_006351	NP_006342	O43615	TIM44_HUMAN			13	1325	-			441					A8K0R9|D6W664|Q8N193	Silent	SNP	ENST00000270538.3	37	c.1323G>A	CCDS12192.1																																																																																				0.672	TIMM44-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461596.3				19	21	0	0	0	0.007413	0	19	21		
MUC16	94025	broad.mit.edu	37	19	9057298	9057298	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:9057298C>T	ENST00000397910.4	-	3	30351	c.30148G>A	c.(30148-30150)Gtg>Atg	p.V10050M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10052	Ser-rich.|Thr-rich.				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						AGTGAAGTCACAGAAAAAGAG	0.463																																						uc002mkp.2		NaN																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(30148-30150)GTG>ATG		mucin 16							74.0	69.0	70.0					19																	9057298		1960	4152	6112	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9057298C>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.30148G>A	19.37:g.9057298C>T	ENSP00000381008:p.Val10050Met						p.V10050M	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	30352	-			10052			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.30148G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	4.274	0.049979	0.08243	.	.	ENSG00000181143	ENST00000397910	T	0.29917	1.55	2.19	-0.15	0.13416	.	.	.	.	.	T	0.29321	0.0730	N	0.24115	0.695	.	.	.	D	0.58268	0.982	P	0.59889	0.865	T	0.33343	-0.9872	8	0.87932	D	0	.	3.0481	0.06160	0.0:0.5193:0.2894:0.1912	.	10050	B5ME49	.	M	10050	ENSP00000381008:V10050M	ENSP00000381008:V10050M	V	-	1	0	MUC16	8918298	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.043000	0.12043	0.028000	0.15324	0.467000	0.42956	GTG		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		16	24	0	0	0	0.004007	0	16	24		
MAN2B1	4125	broad.mit.edu	37	19	12758381	12758381	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:12758381G>A	ENST00000456935.2	-	22	2736	c.2696C>T	c.(2695-2697)tCg>tTg	p.S899L	MAN2B1_ENST00000221363.4_Missense_Mutation_p.S898L|CTD-2192J16.22_ENST00000597692.1_Silent_p.L85L	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	899					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CAGGTGCACCGAGGGCGGCAG	0.692																																						uc002mub.2		NaN																	0				ovary(4)|central_nervous_system(2)	6						c.(2695-2697)TCG>TTG		mannosidase, alpha, class 2B, member 1							38.0	41.0	40.0					19																	12758381		2203	4297	6500	SO:0001583	missense	4125				protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding	g.chr19:12758381G>A		CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.2696C>T	19.37:g.12758381G>A	ENSP00000395473:p.Ser899Leu					MAN2B1_uc010dyv.1_Missense_Mutation_p.S898L	p.S899L	NM_000528	NP_000519	O00754	MA2B1_HUMAN			22	2772	-			899					G5E928|O15330|Q16680|Q93094|Q9BW13	Missense_Mutation	SNP	ENST00000456935.2	37	c.2696C>T	CCDS32919.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.918566	0.52546	.	.	ENSG00000104774	ENST00000456935;ENST00000536796;ENST00000221363	D;D	0.84070	-1.8;-1.8	5.84	-0.587	0.11690	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	1.058650	0.07425	N	0.894694	T	0.77903	0.4200	M	0.82323	2.585	0.09310	N	1	P;P	0.45212	0.604;0.853	B;B	0.30495	0.071;0.116	T	0.67975	-0.5531	10	0.66056	D	0.02	-3.9579	4.8023	0.13303	0.0752:0.1158:0.2677:0.5413	.	898;899	G5E928;O00754	.;MA2B1_HUMAN	L	899;838;898	ENSP00000395473:S899L;ENSP00000221363:S898L	ENSP00000221363:S898L	S	-	2	0	MAN2B1	12619381	0.002000	0.14202	0.000000	0.03702	0.857000	0.48899	1.296000	0.33389	0.039000	0.15632	0.561000	0.74099	TCG		0.692	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1				27	23	0	0	0	0.007291	0	27	23		
TNPO2	30000	broad.mit.edu	37	19	12825962	12825962	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:12825962C>T	ENST00000592287.1	-	8	778	c.670G>A	c.(670-672)Gat>Aat	p.D224N	TNPO2_ENST00000588216.1_Missense_Mutation_p.D224N|TNPO2_ENST00000589956.1_Intron|TNPO2_ENST00000356861.5_Missense_Mutation_p.D224N|TNPO2_ENST00000450764.2_Missense_Mutation_p.D224N|TNPO2_ENST00000441499.1_Missense_Mutation_p.D224N|TNPO2_ENST00000425528.1_Missense_Mutation_p.D224N	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	224					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGGTCATCATCCACAGCCAGG	0.622																																						uc002muo.2		NaN																	0				ovary(1)	1						c.(670-672)GAT>AAT		transportin 2 (importin 3, karyopherin beta 2b)							60.0	64.0	63.0					19																	12825962		2145	4246	6391	SO:0001583	missense	30000				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr19:12825962C>T	AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"""Importins"""	19998	protein-coding gene	gene with protein product	"""importin 3"", ""karyopherin beta 2b"""	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.670G>A	19.37:g.12825962C>T	ENSP00000468434:p.Asp224Asn					TNPO2_uc002mup.2_Missense_Mutation_p.D316N|TNPO2_uc002muq.2_Missense_Mutation_p.D224N|TNPO2_uc002mur.2_Missense_Mutation_p.D224N	p.D224N	NM_001136196	NP_001129668	O14787	TNPO2_HUMAN			8	855	-			224			HEAT 3.		O14655|Q6IN77	Missense_Mutation	SNP	ENST00000592287.1	37	c.670G>A	CCDS45991.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.186448	0.78789	.	.	ENSG00000105576	ENST00000536114;ENST00000425528;ENST00000441499;ENST00000450764;ENST00000356861;ENST00000420511;ENST00000546320	T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37	5.53	5.53	0.82687	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83394	0.5245	M	0.87617	2.895	0.80722	D	1	D;P	0.67145	0.996;0.755	D;B	0.62955	0.909;0.31	D	0.86284	0.1669	10	0.87932	D	0	-2.1671	18.227	0.89921	0.0:1.0:0.0:0.0	.	388;224	Q4LE60;O14787	.;TNPO2_HUMAN	N	388;224;224;224;224;224;224	ENSP00000407182:D224N;ENSP00000389648:D224N;ENSP00000397379:D224N;ENSP00000349321:D224N	ENSP00000349321:D224N	D	-	1	0	TNPO2	12686962	1.000000	0.71417	0.983000	0.44433	0.291000	0.27294	7.266000	0.78452	2.598000	0.87819	0.555000	0.69702	GAT		0.622	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1		NM_013433		18	27	0	0	0	0.00278	0	18	27		
RASAL3	64926	broad.mit.edu	37	19	15562677	15562677	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:15562677G>A	ENST00000343625.7	-	18	3050	c.2965C>T	c.(2965-2967)Cca>Tca	p.P989S	WIZ_ENST00000389282.4_5'Flank|WIZ_ENST00000263381.7_5'Flank|MIR1470_ENST00000600745.1_RNA	NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	989					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)	Ras GTPase activator activity (GO:0005099)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						CGCGTCCTTGGAGAAAGCTGC	0.602																																						uc002nbe.2		NaN																	0					0						c.(2965-2967)CCA>TCA		RAS protein activator like 3							68.0	74.0	72.0					19																	15562677		2001	4158	6159	SO:0001583	missense	64926				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr19:15562677G>A		CCDS46006.1	19p13.12	2008-12-18			ENSG00000105122	ENSG00000105122			26129	protein-coding gene	gene with protein product						12477932	Standard	NM_022904		Approved	FLJ21438	uc002nbe.2	Q86YV0		ENST00000343625.7:c.2965C>T	19.37:g.15562677G>A	ENSP00000341905:p.Pro989Ser					WIZ_uc002nbb.3_5'Flank|RASAL3_uc002nbd.2_3'UTR|RASAL3_uc010eaa.1_Missense_Mutation_p.P403S	p.P989S	NM_022904	NP_075055	Q86YV0	RASL3_HUMAN			18	3051	-			989					Q8N2T9|Q9H735	Missense_Mutation	SNP	ENST00000343625.7	37	c.2965C>T	CCDS46006.1	.	.	.	.	.	.	.	.	.	.	G	4.316	0.057895	0.08339	.	.	ENSG00000105122	ENST00000343625	T	0.25414	1.8	3.71	0.856	0.19019	.	0.683800	0.12118	N	0.497897	T	0.10937	0.0267	N	0.17082	0.46	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.36625	-0.9740	10	0.09084	T	0.74	.	2.8229	0.05477	0.2073:0.0:0.5499:0.2427	.	989	Q86YV0	RASL3_HUMAN	S	989	ENSP00000341905:P989S	ENSP00000341905:P989S	P	-	1	0	RASAL3	15423677	0.001000	0.12720	0.000000	0.03702	0.033000	0.12548	0.685000	0.25378	0.028000	0.15324	0.462000	0.41574	CCA		0.602	RASAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461331.3		NM_022904		31	24	0	0	0	0.007291	0	31	24		
NDUFA13	51079	broad.mit.edu	37	19	19626839	19626839	+	5'UTR	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:19626839G>C	ENST00000507754.4	+	0	276				NDUFA13_ENST00000428459.2_5'Flank|NDUFA13_ENST00000252576.5_Missense_Mutation_p.R14T|YJEFN3_ENST00000608404.1_5'Flank|TSSK6_ENST00000360913.3_5'Flank|CTC-260F20.3_ENST00000555938.1_5'Flank|NDUFA13_ENST00000503283.1_5'Flank|TSSK6_ENST00000585580.3_5'Flank|NDUFA13_ENST00000512771.3_5'Flank			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13						apoptotic signaling pathway (GO:0097190)|cellular metabolic process (GO:0044237)|cellular response to interferon-beta (GO:0035458)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of peptidase activity (GO:0010952)|positive regulation of protein catabolic process (GO:0045732)|protein import into mitochondrial inner membrane (GO:0045039)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						CTGGGCAAAAGAGGAGTAAAG	0.612																																						uc010xqy.1		NaN																	0					0						c.(40-42)AGA>ACA		NADH dehydrogenase (ubiquinone) 1 alpha	NADH(DB00157)						35.0	36.0	35.0					19																	19626839		2199	4288	6487	SO:0001623	5_prime_UTR_variant	51079				apoptotic nuclear change|induction of apoptosis by extracellular signals|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|negative regulation of translation|protein import into nucleus|reactive oxygen species metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex I|nucleoplasm	ATP binding|NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr19:19626839G>C	AF261134	CCDS12404.1, CCDS12404.2	19p13.11	2011-07-04			ENSG00000186010	ENSG00000186010		"""Mitochondrial respiratory chain complex / Complex I"""	17194	protein-coding gene	gene with protein product	"""complex I B16.6 subunit"""	609435				12837546, 10924506, 15367666	Standard	NM_015965		Approved	CGI-39, CDA016, GRIM-19, GRIM19, B16.6		Q9P0J0	OTTHUMG00000162211	ENST00000507754.4:c.-209G>C	19.37:g.19626839G>C						TSSK6_uc002nmq.2_5'Flank|TSSK6_uc002nmr.2_5'Flank|NDUFA13_uc002nms.2_Missense_Mutation_p.R14T|NDUFA13_uc010xqx.1_Missense_Mutation_p.R14T	p.R14T	NM_015965	NP_057049	Q9P0J0	NDUAD_HUMAN			1	300	+			Error:Variant_position_missing_in_Q9P0J0_after_alignment					B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Missense_Mutation	SNP	ENST00000507754.4	37	c.41G>C	CCDS12404.2	.	.	.	.	.	.	.	.	.	.	G	12.40	1.927196	0.34002	.	.	ENSG00000186010	ENST00000252576	D	0.81579	-1.51	3.08	-6.13	0.02118	.	.	.	.	.	T	0.69646	0.3134	.	.	.	0.09310	N	0.999993	.	.	.	.	.	.	T	0.63079	-0.6717	6	0.87932	D	0	.	1.5075	0.02489	0.2331:0.2935:0.3277:0.1457	.	.	.	.	T	14	ENSP00000252576:R14T	ENSP00000252576:R14T	R	+	2	0	NDUFA13	19487839	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.891000	0.04135	-1.611000	0.01581	-0.482000	0.04802	AGA		0.612	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367916.6		NM_015965		18	20	0	0	0	0.006122	0	18	20		
RYR1	6261	broad.mit.edu	37	19	39068655	39068655	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:39068655G>A	ENST00000359596.3	+	98	14270	c.14270G>A	c.(14269-14271)cGc>cAc	p.R4757H	RYR1_ENST00000360985.3_Missense_Mutation_p.R4752H|RYR1_ENST00000355481.4_Missense_Mutation_p.R4752H			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4757					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CACAATGAGCGCAAGCCCAAC	0.632																																						uc002oit.2		NaN																	0				ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(14269-14271)CGC>CAC		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						55.0	53.0	54.0					19																	39068655		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39068655G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.14270G>A	19.37:g.39068655G>A	ENSP00000352608:p.Arg4757His					RYR1_uc002oiu.2_Missense_Mutation_p.R4752H	p.R4757H	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		98	14400	+	all_cancers(60;7.91e-06)		4757					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.14270G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.255369	0.39896	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.96830	-4.14;-4.14;-4.14	5.09	4.0	0.46444	.	0.093574	0.40144	U	0.001173	D	0.92189	0.7523	N	0.22421	0.69	0.41410	D	0.987734	D;D	0.59767	0.986;0.976	P;B	0.48627	0.584;0.379	D	0.90412	0.4410	10	0.62326	D	0.03	.	5.0783	0.14644	0.2545:0.0:0.7455:0.0	.	4752;4757	P21817-2;P21817	.;RYR1_HUMAN	H	4757;4752;4752	ENSP00000352608:R4757H;ENSP00000347667:R4752H;ENSP00000354254:R4752H	ENSP00000347667:R4752H	R	+	2	0	RYR1	43760495	1.000000	0.71417	1.000000	0.80357	0.606000	0.37113	3.934000	0.56553	2.651000	0.90000	0.561000	0.74099	CGC		0.632	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1				14	27	0	0	0	0.004007	0	14	27		
FCGBP	8857	broad.mit.edu	37	19	40366091	40366091	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:40366091A>G	ENST00000221347.6	-	30	14150	c.14143T>C	c.(14143-14145)Tac>Cac	p.Y4715H		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4715						extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCTGCCACGTAGGTAGCCACT	0.662																																						uc002omp.3		NaN																	0				ovary(4)|skin(4)|central_nervous_system(1)	9						c.(14143-14145)TAC>CAC		Fc fragment of IgG binding protein precursor							35.0	44.0	41.0					19																	40366091		2201	4299	6500	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40366091A>G	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.14143T>C	19.37:g.40366091A>G	ENSP00000221347:p.Tyr4715His						p.Y4715H	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		30	14151	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4715					O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.14143T>C	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	A	15.72	2.916655	0.52546	.	.	ENSG00000090920	ENST00000221347	D	0.85861	-2.04	4.47	4.47	0.54385	Uncharacterised domain, cysteine-rich (2);	0.000000	0.64402	U	0.000002	D	0.94192	0.8136	H	0.95816	3.725	0.40895	D	0.984108	D	0.89917	1.0	D	0.97110	1.0	D	0.95686	0.8736	10	0.66056	D	0.02	.	13.1344	0.59402	1.0:0.0:0.0:0.0	.	4715	Q9Y6R7	FCGBP_HUMAN	H	4715	ENSP00000221347:Y4715H	ENSP00000221347:Y4715H	Y	-	1	0	FCGBP	45057931	1.000000	0.71417	0.998000	0.56505	0.552000	0.35366	8.972000	0.93424	1.996000	0.58369	0.254000	0.18369	TAC		0.662	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1		NM_003890		42	20	0	0	0	0.010771	0	42	20		
SHKBP1	92799	broad.mit.edu	37	19	41096303	41096303	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:41096303C>T	ENST00000291842.5	+	16	1792	c.1743C>T	c.(1741-1743)gcC>gcT	p.A581A	LTBP4_ENST00000545697.1_5'Flank|SHKBP1_ENST00000600733.1_Silent_p.A556A|LTBP4_ENST00000204005.9_5'Flank	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	581					protein homooligomerization (GO:0051260)					breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TAACCACCGCCATGGACGGCC	0.697																																						uc002oob.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(1741-1743)GCC>GCT		SH3KBP1 binding protein 1							17.0	22.0	21.0					19																	41096303		2197	4294	6491	SO:0001819	synonymous_variant	92799					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:41096303C>T	AF258553	CCDS12560.1	19q13.2	2013-01-10				ENSG00000160410		"""WD repeat domain containing"""	19214	protein-coding gene	gene with protein product						11152963	Standard	NM_138392		Approved	PP203, Sb1	uc002oob.3	Q8TBC3		ENST00000291842.5:c.1743C>T	19.37:g.41096303C>T						SHKBP1_uc002ooc.2_Silent_p.A556A|SHKBP1_uc002ood.2_Intron|SHKBP1_uc010xvl.1_Silent_p.A504A|SHKBP1_uc002ooe.2_Silent_p.A418A|SHKBP1_uc002oof.2_Silent_p.A418A|SHKBP1_uc010xvm.1_Silent_p.A361A|SHKBP1_uc010xvn.1_Silent_p.A459A|LTBP4_uc002oog.1_5'Flank	p.A581A	NM_138392	NP_612401	Q8TBC3	SHKB1_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		16	1792	+			581			WD 5.		Q8N2I6|Q8WY93|Q96IB8	Silent	SNP	ENST00000291842.5	37	c.1743C>T	CCDS12560.1																																																																																				0.697	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462613.2		NM_138392		23	12	0	0	0	0.003954	0	23	12		
CNFN	84518	broad.mit.edu	37	19	42891312	42891312	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:42891312C>T	ENST00000222032.5	-	4	381	c.332G>A	c.(331-333)cGa>cAa	p.R111Q	CNFN_ENST00000597255.1_Missense_Mutation_p.R111Q	NM_032488.3	NP_115877.2	Q9BYD5	CNFN_HUMAN	cornifelin	111					keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				lung(1)|prostate(1)	2		Prostate(69;0.00899)				TCCTTACTCTCGGATCTTCAG	0.637																																						uc002otp.3		NaN																	0					0						c.(331-333)CGA>CAA		cornifelin							51.0	59.0	56.0					19																	42891312		2203	4300	6503	SO:0001583	missense	84518				keratinization	cornified envelope|cytoplasm		g.chr19:42891312C>T	AB049591	CCDS12606.1	19q13.31	2006-01-11				ENSG00000105427			30183	protein-coding gene	gene with protein product		611764					Standard	NM_032488		Approved	PLAC8L2	uc002otp.4	Q9BYD5		ENST00000222032.5:c.332G>A	19.37:g.42891312C>T	ENSP00000222032:p.Arg111Gln					CNFN_uc002otq.3_Missense_Mutation_p.R124Q	p.R111Q	NM_032488	NP_115877	Q9BYD5	CNFN_HUMAN			4	387	-		Prostate(69;0.00899)	111					B2R569	Missense_Mutation	SNP	ENST00000222032.5	37	c.332G>A	CCDS12606.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.900544	0.92035	.	.	ENSG00000105427	ENST00000222032	.	.	.	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.78604	0.4309	M	0.82823	2.61	0.48901	D	0.999726	D	0.69078	0.997	D	0.67725	0.953	T	0.82100	-0.0624	9	0.87932	D	0	-6.2243	13.481	0.61336	0.0:1.0:0.0:0.0	.	111	Q9BYD5	CNFN_HUMAN	Q	111	.	ENSP00000222032:R111Q	R	-	2	0	CNFN	47583152	1.000000	0.71417	0.991000	0.47740	0.688000	0.40055	2.762000	0.47597	2.447000	0.82792	0.551000	0.68910	CGA		0.637	CNFN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463859.1		NM_032488		18	16	0	0	0	0.010504	0	18	16		
ZNF226	7769	broad.mit.edu	37	19	44680458	44680458	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:44680458C>T	ENST00000590089.1	+	7	1410	c.1043C>T	c.(1042-1044)tCa>tTa	p.S348L	ZNF226_ENST00000337433.5_Missense_Mutation_p.S348L|ZNF226_ENST00000454662.2_Missense_Mutation_p.S348L|ZNF226_ENST00000588883.1_3'UTR			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	348					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)						Prostate(69;0.0352)|all_neural(266;0.202)				AGTCGTAGATCAGCACTTAAT	0.468																																					Pancreas(115;581 1665 13228 19278 50070)	uc002oyp.2		NaN																	0					0						c.(1042-1044)TCA>TTA		zinc finger protein 226 isoform a							98.0	104.0	102.0					19																	44680458		2199	4299	6498	SO:0001583	missense	7769				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44680458C>T	AF024707	CCDS46102.1, CCDS46103.1	19q13.31	2013-01-08	2012-09-11	2012-09-11	ENSG00000167380	ENSG00000167380		"""Zinc fingers, C2H2-type"", ""-"""	13019	protein-coding gene	gene with protein product							Standard	NM_001146220		Approved		uc002oyp.3	Q9NYT6		ENST00000590089.1:c.1043C>T	19.37:g.44680458C>T	ENSP00000465121:p.Ser348Leu					ZNF226_uc002oyq.2_Missense_Mutation_p.S231L|ZNF226_uc002oyr.2_Missense_Mutation_p.S231L|ZNF226_uc010ejg.2_3'UTR|ZNF226_uc002oys.2_Missense_Mutation_p.S348L|ZNF226_uc002oyt.2_Missense_Mutation_p.S348L	p.S348L	NM_001032373	NP_001027545	Q9NYT6	ZN226_HUMAN			6	1187	+		Prostate(69;0.0352)|all_neural(266;0.202)	348			C2H2-type 4.		Q8WWE6|Q96TE6|Q9NS44	Missense_Mutation	SNP	ENST00000590089.1	37	c.1043C>T	CCDS46102.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.184529	0.57909	.	.	ENSG00000167380	ENST00000536276;ENST00000337433;ENST00000454662	T;T	0.36520	1.25;1.25	4.28	4.28	0.50868	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.27821	N	0.017712	T	0.56396	0.1982	M	0.73598	2.24	0.09310	N	1	D	0.76494	0.999	D	0.65987	0.94	T	0.50180	-0.8858	10	0.66056	D	0.02	.	12.4788	0.55829	0.0:0.8298:0.1702:0.0	.	348	Q9NYT6	ZN226_HUMAN	L	56;348;348	ENSP00000336719:S348L;ENSP00000393265:S348L	ENSP00000336719:S348L	S	+	2	0	ZNF226	49372298	0.000000	0.05858	0.974000	0.42286	0.949000	0.60115	0.332000	0.19751	2.388000	0.81334	0.655000	0.94253	TCA		0.468	ZNF226-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460712.1				43	28	0	0	0	0.009718	0	43	28		
CLPTM1	1209	broad.mit.edu	37	19	45477814	45477814	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:45477814A>G	ENST00000337392.5	+	4	578	c.428A>G	c.(427-429)gAc>gGc	p.D143G	CLPTM1_ENST00000546079.1_Missense_Mutation_p.D41G|CLPTM1_ENST00000541297.2_Missense_Mutation_p.D129G	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	143					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of T cell differentiation in thymus (GO:0033081)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		GAGAACTCAGACGGCTGCTAC	0.567																																						uc002pai.2		NaN																	0				ovary(1)	1						c.(427-429)GAC>GGC		cleft lip and palate associated transmembrane							116.0	95.0	102.0					19																	45477814		2203	4300	6503	SO:0001583	missense	1209				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane		g.chr19:45477814A>G	AF037339	CCDS12651.1, CCDS74394.1, CCDS74395.1	19q13.3	2008-02-05				ENSG00000104853			2087	protein-coding gene	gene with protein product		604783				9828125	Standard	NM_001294		Approved		uc002pai.3	O96005		ENST00000337392.5:c.428A>G	19.37:g.45477814A>G	ENSP00000336994:p.Asp143Gly					CLPTM1_uc010ejv.1_Missense_Mutation_p.D41G|CLPTM1_uc010xxf.1_Missense_Mutation_p.D41G|CLPTM1_uc010xxg.1_Missense_Mutation_p.D129G	p.D143G	NM_001294	NP_001285	O96005	CLPT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)	4	443	+		all_neural(266;0.224)|Ovarian(192;0.231)	143			Extracellular (Potential).		B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5	Missense_Mutation	SNP	ENST00000337392.5	37	c.428A>G	CCDS12651.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.584091	0.86748	.	.	ENSG00000104853	ENST00000546079;ENST00000541297;ENST00000337392;ENST00000347493	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.81322	0.4798	M	0.88310	2.945	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.75484	0.968;0.986;0.986	D	0.84816	0.0793	9	0.72032	D	0.01	-35.8226	13.2655	0.60131	1.0:0.0:0.0:0.0	.	129;143;143	F5H8J3;B3KQH2;O96005	.;.;CLPT1_HUMAN	G	41;129;143;143	.	ENSP00000336994:D143G	D	+	2	0	CLPTM1	50169654	1.000000	0.71417	0.675000	0.29917	0.819000	0.46315	8.367000	0.90113	2.225000	0.72522	0.529000	0.55759	GAC		0.567	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453267.1		NM_001294		33	27	0	0	0	0.003271	0	33	27		
CLPTM1	1209	broad.mit.edu	37	19	45477816	45477816	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:45477816G>A	ENST00000337392.5	+	4	580	c.430G>A	c.(430-432)Ggc>Agc	p.G144S	CLPTM1_ENST00000546079.1_Missense_Mutation_p.G42S|CLPTM1_ENST00000541297.2_Missense_Mutation_p.G130S	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	144					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of T cell differentiation in thymus (GO:0033081)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		GAACTCAGACGGCTGCTACGA	0.572																																						uc002pai.2		NaN																	0				ovary(1)	1						c.(430-432)GGC>AGC		cleft lip and palate associated transmembrane							111.0	92.0	98.0					19																	45477816		2203	4300	6503	SO:0001583	missense	1209				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane		g.chr19:45477816G>A	AF037339	CCDS12651.1, CCDS74394.1, CCDS74395.1	19q13.3	2008-02-05				ENSG00000104853			2087	protein-coding gene	gene with protein product		604783				9828125	Standard	NM_001294		Approved		uc002pai.3	O96005		ENST00000337392.5:c.430G>A	19.37:g.45477816G>A	ENSP00000336994:p.Gly144Ser					CLPTM1_uc010ejv.1_Missense_Mutation_p.G42S|CLPTM1_uc010xxf.1_Missense_Mutation_p.G42S|CLPTM1_uc010xxg.1_Missense_Mutation_p.G130S	p.G144S	NM_001294	NP_001285	O96005	CLPT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)	4	445	+		all_neural(266;0.224)|Ovarian(192;0.231)	144			Extracellular (Potential).		B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5	Missense_Mutation	SNP	ENST00000337392.5	37	c.430G>A	CCDS12651.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.005085	0.93287	.	.	ENSG00000104853	ENST00000546079;ENST00000541297;ENST00000337392;ENST00000347493	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.68174	0.2972	L	0.51914	1.62	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	P;D;D	0.65987	0.901;0.94;0.94	T	0.61342	-0.7082	9	0.22109	T	0.4	-49.422	16.5186	0.84307	0.0:0.0:1.0:0.0	.	130;144;144	F5H8J3;B3KQH2;O96005	.;.;CLPT1_HUMAN	S	42;130;144;144	.	ENSP00000336994:G144S	G	+	1	0	CLPTM1	50169656	1.000000	0.71417	0.988000	0.46212	0.823000	0.46562	8.844000	0.92147	2.755000	0.94549	0.650000	0.86243	GGC		0.572	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453267.1		NM_001294		32	27	0	0	0	0.013726	0	32	27		
NUCB1	4924	broad.mit.edu	37	19	49422510	49422510	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:49422510G>T	ENST00000405315.4	+	10	1303	c.969G>T	c.(967-969)agG>agT	p.R323S	NUCB1_ENST00000263273.5_Missense_Mutation_p.R323S|NUCB1-AS1_ENST00000416432.1_RNA|NUCB1_ENST00000485798.1_Intron|NUCB1_ENST00000407032.1_Missense_Mutation_p.R323S	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	323	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		CCACTCAGAGGAAGGAGTTTG	0.602																																						uc002plb.3		NaN																	0					0						c.(967-969)AGG>AGT		nucleobindin 1 precursor							47.0	52.0	50.0					19																	49422510		2203	4300	6503	SO:0001583	missense	4924					ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding	g.chr19:49422510G>T	BC002356	CCDS12740.1	19q13.33	2013-01-10			ENSG00000104805	ENSG00000104805		"""EF-hand domain containing"""	8043	protein-coding gene	gene with protein product		601323				8661046	Standard	NM_006184		Approved	NUC, Calnuc	uc002plb.4	Q02818	OTTHUMG00000152514	ENST00000405315.4:c.969G>T	19.37:g.49422510G>T	ENSP00000385923:p.Arg323Ser					NUCB1_uc002pla.2_Missense_Mutation_p.R323S|NUCB1_uc002plc.2_Missense_Mutation_p.R323S|NUCB1_uc002pld.2_5'UTR	p.R323S	NM_006184	NP_006175	Q02818	NUCB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)	10	1041	+		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)	323			EF-hand 2.		B2RD64|Q15838|Q7Z4J7|Q9BUR1	Missense_Mutation	SNP	ENST00000405315.4	37	c.969G>T	CCDS12740.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.41|11.41	1.631544|1.631544	0.29068|0.29068	.|.	.|.	ENSG00000104805|ENSG00000104805	ENST00000424608|ENST00000405315;ENST00000407032;ENST00000263273	.|T;T;T	.|0.17854	.|2.25;2.25;2.25	4.32|4.32	3.17|3.17	0.36434|0.36434	.|EF-hand-like domain (1);	.|0.153660	.|0.56097	.|D	.|0.000034	T|T	0.10723|0.10723	0.0262|0.0262	L|L	0.37800|0.37800	1.135|1.135	0.43647|0.43647	D|D	0.996056|0.996056	.|B;B	.|0.30021	.|0.265;0.265	.|B;B	.|0.27380	.|0.079;0.079	T|T	0.10753|0.10753	-1.0616|-1.0616	5|10	.|0.26408	.|T	.|0.33	.|.	5.4032|5.4032	0.16306|0.16306	0.1108:0.2076:0.6816:0.0|0.1108:0.2076:0.6816:0.0	.|.	.|323;323	.|Q02818;Q53GX6	.|NUCB1_HUMAN;.	V|S	293|323	.|ENSP00000385923:R323S;ENSP00000385211:R323S;ENSP00000263273:R323S	.|ENSP00000263273:R323S	G|R	+|+	2|3	0|2	NUCB1|NUCB1	54114322|54114322	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.042000|0.042000	0.13812|0.13812	2.185000|2.185000	0.42584|0.42584	2.354000|2.354000	0.79902|0.79902	0.591000|0.591000	0.81541|0.81541	GGA|AGG		0.602	NUCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326545.2		NM_006184		7	65	1	0	1.58986e-06	0.008291	1.66318e-06	7	65		
TSKS	60385	broad.mit.edu	37	19	50243365	50243365	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:50243365C>T	ENST00000246801.3	-	10	1655	c.1573G>A	c.(1573-1575)Gag>Aag	p.E525K	TSKS_ENST00000358830.3_Missense_Mutation_p.E325K	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	525					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CGCAGGGCCTCGTCTTGGGCC	0.632																																						uc002ppm.2		NaN																	0				large_intestine(1)|skin(1)	2						c.(1573-1575)GAG>AAG		testis-specific kinase substrate							71.0	73.0	72.0					19																	50243365		2203	4300	6503	SO:0001583	missense	60385						protein binding	g.chr19:50243365C>T	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1573G>A	19.37:g.50243365C>T	ENSP00000246801:p.Glu525Lys						p.E525K	NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	10	1584	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	525					Q8WXJ0	Missense_Mutation	SNP	ENST00000246801.3	37	c.1573G>A	CCDS12780.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.335983	0.81801	.	.	ENSG00000126467	ENST00000246801;ENST00000358830	T;T	0.44482	0.92;0.92	4.81	4.81	0.61882	.	0.119977	0.37483	N	0.002079	T	0.48295	0.1492	N	0.24115	0.695	0.35727	D	0.817581	D	0.76494	0.999	D	0.76575	0.988	T	0.55386	-0.8149	10	0.38643	T	0.18	-11.6883	13.2401	0.59992	0.0:1.0:0.0:0.0	.	525	Q9UJT2	TSKS_HUMAN	K	525;325	ENSP00000246801:E525K;ENSP00000351691:E325K	ENSP00000246801:E525K	E	-	1	0	TSKS	54935177	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.636000	0.54317	2.490000	0.84030	0.609000	0.83330	GAG		0.632	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1		NM_021733		68	35	0	0	0	0.01441	0	68	35		
NLRP2	55655	broad.mit.edu	37	19	55493759	55493759	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:55493759A>G	ENST00000543010.1	+	6	836	c.693A>G	c.(691-693)gcA>gcG	p.A231A	NLRP2_ENST00000263437.6_Silent_p.A228A|NLRP2_ENST00000391721.4_Silent_p.A207A|NLRP2_ENST00000448584.2_Silent_p.A231A|NLRP2_ENST00000339757.7_Silent_p.A209A|NLRP2_ENST00000427260.2_Silent_p.A208A|NLRP2_ENST00000538819.1_Silent_p.A207A|NLRP2_ENST00000537859.1_Silent_p.A209A	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	231	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TAGACTGGGCAGAGGACAACC	0.577																																						uc002qij.2		NaN																	0				ovary(1)|skin(1)	2						c.(691-693)GCA>GCG		NLR family, pyrin domain containing 2							55.0	52.0	53.0					19																	55493759		2203	4300	6503	SO:0001819	synonymous_variant	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55493759A>G	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.693A>G	19.37:g.55493759A>G						NLRP2_uc010yfp.1_Silent_p.A208A|NLRP2_uc010esn.2_Silent_p.A207A|NLRP2_uc010eso.2_Silent_p.A228A|NLRP2_uc010esp.2_Silent_p.A209A	p.A231A	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	6	779	+			231			NACHT.		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Silent	SNP	ENST00000543010.1	37	c.693A>G	CCDS12913.1																																																																																				0.577	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1		NM_017852		29	17	0	0	0	0.009535	0	29	17		
ZNF418	147686	broad.mit.edu	37	19	58441801	58441801	+	Missense_Mutation	SNP	G	G	A	rs181966444	byFrequency	TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:58441801G>A	ENST00000396147.1	-	3	419	c.128C>T	c.(127-129)tCc>tTc	p.S43F	ZNF418_ENST00000595830.1_Missense_Mutation_p.S43F|ZNF418_ENST00000599852.1_Intron|ZNF418_ENST00000425570.3_Missense_Mutation_p.S64F|ZNF418_ENST00000600989.1_Missense_Mutation_p.S43F	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	43	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		CTTACCCAGGGAGGATATAAG	0.488																																						uc002qqs.1		NaN																	0					0						c.(127-129)TCC>TTC		zinc finger protein 418							135.0	136.0	135.0					19																	58441801		2203	4300	6503	SO:0001583	missense	147686				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58441801G>A	AB075836, AY695825	CCDS42642.1	19q13.43	2013-01-08				ENSG00000196724		"""Zinc fingers, C2H2-type"", ""-"""	20647	protein-coding gene	gene with protein product						11853319	Standard	NM_133460		Approved	KIAA1956, FLJ31551	uc002qqs.1	Q8TF45		ENST00000396147.1:c.128C>T	19.37:g.58441801G>A	ENSP00000379451:p.Ser43Phe					ZNF418_uc010yhn.1_RNA|ZNF418_uc010yho.1_Intron	p.S43F	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)	3	420	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	43			KRAB.		Q2M1S2|Q670L5|Q96N18	Missense_Mutation	SNP	ENST00000396147.1	37	c.128C>T	CCDS42642.1	.	.	.	.	.	.	.	.	.	.	.	12.57	1.976497	0.34848	.	.	ENSG00000196724	ENST00000396147;ENST00000425570	T;T	0.03181	4.02;4.02	2.75	1.7	0.24286	Krueppel-associated box (4);	.	.	.	.	T	0.15522	0.0374	M	0.84511	2.7	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.05582	-1.0876	9	0.51188	T	0.08	.	4.8914	0.13728	0.1768:0.0:0.8232:0.0	.	43	Q8TF45	ZN418_HUMAN	F	43;64	ENSP00000379451:S43F;ENSP00000407039:S64F	ENSP00000379451:S43F	S	-	2	0	ZNF418	63133613	0.001000	0.12720	0.030000	0.17652	0.010000	0.07245	0.326000	0.19646	1.536000	0.49237	0.313000	0.20887	TCC		0.488	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466693.1		NM_133460		70	47	0	0	0	0.01441	0	70	47		
ZNF606	80095	broad.mit.edu	37	19	58489802	58489802	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:58489802G>A	ENST00000341164.4	-	7	2866	c.2246C>T	c.(2245-2247)tCt>tTt	p.S749F	ZNF606_ENST00000536132.1_Missense_Mutation_p.S659F	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	749					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		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;0.0168)		AATAAGGGAAGAATTCTTACA	0.373																																						uc002qqw.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(2245-2247)TCT>TTT		zinc finger protein 606							126.0	131.0	129.0					19																	58489802		2203	4299	6502	SO:0001583	missense	80095				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58489802G>A	AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"""Zinc fingers, C2H2-type"", ""-"""	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.2246C>T	19.37:g.58489802G>A	ENSP00000343617:p.Ser749Phe					ZNF606_uc010yhp.1_Missense_Mutation_p.S659F	p.S749F	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)	7	2864	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	749			C2H2-type 15.		A8KAN2|Q8NE04|Q96JH5	Missense_Mutation	SNP	ENST00000341164.4	37	c.2246C>T	CCDS12968.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.705885	0.48412	.	.	ENSG00000166704	ENST00000341164;ENST00000536132	T;T	0.08193	3.12;3.12	4.55	3.43	0.39272	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43416	D	0.000573	T	0.13500	0.0327	M	0.64997	1.995	0.33872	D	0.635024	P	0.50943	0.94	P	0.45856	0.495	T	0.20806	-1.0264	10	0.87932	D	0	.	13.48	0.61330	0.0:0.0:0.843:0.157	.	749	Q8WXB4	ZN606_HUMAN	F	749;659	ENSP00000343617:S749F;ENSP00000445624:S659F	ENSP00000343617:S749F	S	-	2	0	ZNF606	63181614	0.000000	0.05858	1.000000	0.80357	0.986000	0.74619	0.561000	0.23515	2.492000	0.84095	0.650000	0.86243	TCT		0.373	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1		NM_025027		73	32	0	0	0	0.01441	0	73	32		
SNTG2	54221	broad.mit.edu	37	2	1133464	1133464	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:1133464T>C	ENST00000308624.5	+	6	509	c.380T>C	c.(379-381)aTa>aCa	p.I127T	SNTG2_ENST00000407292.1_Intron	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	127	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GTTAATGGCATACATGTAGAA	0.269																																						uc002qwq.2		NaN																	0				ovary(1)|large_intestine(1)|breast(1)	3						c.(379-381)ATA>ACA		syntrophin, gamma 2							173.0	165.0	167.0					2																	1133464		1841	4099	5940	SO:0001583	missense	54221				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	g.chr2:1133464T>C	AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.380T>C	2.37:g.1133464T>C	ENSP00000311837:p.Ile127Thr					SNTG2_uc002qwp.2_RNA|SNTG2_uc010ewi.2_Intron	p.I127T	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)	6	508	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)	127			PDZ.		Q05AH5	Missense_Mutation	SNP	ENST00000308624.5	37	c.380T>C	CCDS46220.1	.	.	.	.	.	.	.	.	.	.	T	14.68	2.608186	0.46527	.	.	ENSG00000172554	ENST00000308624	T	0.24723	1.84	4.69	4.69	0.59074	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.29783	0.0744	N	0.16266	0.395	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.05818	-1.0862	10	0.14252	T	0.57	.	11.6903	0.51512	0.0:0.0:0.0:1.0	.	127	Q9NY99	SNTG2_HUMAN	T	127	ENSP00000311837:I127T	ENSP00000311837:I127T	I	+	2	0	SNTG2	1123464	1.000000	0.71417	0.998000	0.56505	0.921000	0.55340	4.213000	0.58520	1.742000	0.51746	0.377000	0.23210	ATA		0.269	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1		NM_018968		26	45	0	0	0	0.00632	0	26	45		
ALLC	55821	broad.mit.edu	37	2	3730543	3730543	+	Silent	SNP	C	C	T	rs201690293		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:3730543C>T	ENST00000252505.3	+	7	552	c.390C>T	c.(388-390)gaC>gaT	p.D130D		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	149					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)	p.D130D(1)		breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		TAAAATCCGACGACTGGAGTT	0.428										HNSCC(21;0.051)																												uc010ewt.2		NaN																	1	Substitution - coding silent(1)		large_intestine(1)	central_nervous_system(1)	1						c.(388-390)GAC>GAT		allantoicase isoform a							124.0	125.0	125.0					2																	3730543		1893	4117	6010	SO:0001819	synonymous_variant	55821						allantoicase activity	g.chr2:3730543C>T	AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360			17377	protein-coding gene	gene with protein product		612396				11054555	Standard	NM_018436		Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.390C>T	2.37:g.3730543C>T		HNSCC(21;0.051)					p.D130D	NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)	7	551	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)	149					Q53T95|Q5RL81|Q96RE6|Q9NZA7	Silent	SNP	ENST00000252505.3	37	c.390C>T	CCDS46223.1																																																																																				0.428	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322855.1				30	96	0	0	0	0.008361	0	30	96		
FAM84A	151354	broad.mit.edu	37	2	14774914	14774914	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:14774914C>T	ENST00000295092.2	+	2	1099	c.811C>T	c.(811-813)Cgt>Tgt	p.R271C	AC011897.1_ENST00000581929.1_5'Flank|FAM84A_ENST00000331243.4_Missense_Mutation_p.R271C	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A	271										endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			CGAGAAGCGCCGTATCGACGC	0.667																																						uc002rbz.1		NaN																	0				pancreas(1)	1						c.(811-813)CGT>TGT		family with sequence similarity 84, member A							32.0	33.0	32.0					2																	14774914		2203	4300	6503	SO:0001583	missense	151354							g.chr2:14774914C>T	AJ417080, BC026346	CCDS1684.1	2p24.3	2005-08-09			ENSG00000162981	ENSG00000162981			20743	protein-coding gene	gene with protein product	"""neurological/sensory 1"""	611234				14702039	Standard	NM_145175		Approved	NSE1, FLJ35392	uc002rbz.2	Q96KN4	OTTHUMG00000119093	ENST00000295092.2:c.811C>T	2.37:g.14774914C>T	ENSP00000295092:p.Arg271Cys					FAM84A_uc002rca.1_5'Flank	p.R271C	NM_145175	NP_660158	Q96KN4	FA84A_HUMAN	GBM - Glioblastoma multiforme(1;0.00969)		2	1053	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		271					A6NP76|Q86UZ2|Q8NAH7|Q8TAM5	Missense_Mutation	SNP	ENST00000295092.2	37	c.811C>T	CCDS1684.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.71|18.71	3.682150|3.682150	0.68042|0.68042	.|.	.|.	ENSG00000162981|ENSG00000162981	ENST00000540701|ENST00000295092;ENST00000331243	.|T;T	.|0.03772	.|3.81;3.81	4.67|4.67	3.79|3.79	0.43588|0.43588	.|.	.|.	.|.	.|.	.|.	.|T	.|0.12050	.|0.0293	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	.|D	.|0.71674	.|0.998	.|P	.|0.62089	.|0.898	.|T	.|0.01298	.|-1.1392	.|9	.|0.87932	.|D	.|0	.|-13.6264	6.3009|6.3009	0.21111|0.21111	0.2893:0.6175:0.0:0.0932|0.2893:0.6175:0.0:0.0932	.|.	.|271	.|Q96KN4	.|FA84A_HUMAN	.|C	-1|271	.|ENSP00000295092:R271C;ENSP00000330681:R271C	.|ENSP00000295092:R271C	.|R	+|+	.|1	.|0	FAM84A|FAM84A	14692365|14692365	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	1.577000|1.577000	0.36515|0.36515	1.083000|1.083000	0.41159|0.41159	0.455000|0.455000	0.32223|0.32223	.|CGT		0.667	FAM84A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239308.2		NM_145175		5	30	0	0	0	0.001168	0	5	30		
MYCN	4613	broad.mit.edu	37	2	16082291	16082291	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:16082291C>T	ENST00000281043.3	+	2	402	c.105C>T	c.(103-105)ttC>ttT	p.F35F	MYCNOS_ENST00000453400.1_RNA|MYCNOS_ENST00000419083.1_RNA|MYCNOS_ENST00000448719.1_RNA|MYCNOS_ENST00000439180.1_RNA|MYCNOS_ENST00000420452.1_RNA	NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	35					branching morphogenesis of an epithelial tube (GO:0048754)|cartilage condensation (GO:0001502)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|lung development (GO:0030324)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cell death (GO:0010942)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin (GO:0000785)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			AAGATGACTTCTACTTCGGCG	0.647			A		neuroblastoma																																	uc002rci.2		NaN		Dom	yes		2	2p24.1	4613	A	"""v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)"""			O			neuroblastoma		0				central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5						c.(103-105)TTC>TTT		v-myc myelocytomatosis viral related oncogene,							43.0	46.0	45.0					2																	16082291		2203	4300	6503	SO:0001819	synonymous_variant	4613				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:16082291C>T	BC002712	CCDS1687.1	2p24.3	2013-08-14	2013-07-09		ENSG00000134323	ENSG00000134323		"""Basic helix-loop-helix proteins"""	7559	protein-coding gene	gene with protein product		164840		NMYC			Standard	XM_006711886		Approved	bHLHe37, N-myc, MYCNOT	uc002rci.3	P04198	OTTHUMG00000039579	ENST00000281043.3:c.105C>T	2.37:g.16082291C>T						MYCNOS_uc002rch.1_5'Flank|MYCN_uc010yjr.1_Silent_p.F27F	p.F35F	NM_005378	NP_005369	P04198	MYCN_HUMAN	GBM - Glioblastoma multiforme(3;0.000332)		2	405	+	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		35					Q53XS5|Q6LDT9	Silent	SNP	ENST00000281043.3	37	c.105C>T	CCDS1687.1																																																																																				0.647	MYCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095469.2		NM_005378		16	36	0	0	0	0.006122	0	16	36		
RAD51AP2	729475	broad.mit.edu	37	2	17697834	17697834	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:17697834A>G	ENST00000399080.2	-	1	1872	c.1849T>C	c.(1849-1851)Tat>Cat	p.Y617H		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	617										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTTTTTGGATACTTCAAATAA	0.269																																						uc002rcl.1		NaN																	0				ovary(1)	1						c.(1849-1851)TAT>CAT		RAD51 associated protein 2							19.0	18.0	18.0					2																	17697834		1781	4002	5783	SO:0001583	missense	729475							g.chr2:17697834A>G	AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.1849T>C	2.37:g.17697834A>G	ENSP00000382030:p.Tyr617His					RAD51AP2_uc010exn.1_Missense_Mutation_p.Y608H	p.Y617H	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN			1	1873	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		617						Missense_Mutation	SNP	ENST00000399080.2	37	c.1849T>C	CCDS42656.1	.	.	.	.	.	.	.	.	.	.	A	10.72	1.428575	0.25726	.	.	ENSG00000214842	ENST00000399080	T	0.43688	0.94	4.3	4.3	0.51218	.	.	.	.	.	T	0.49729	0.1574	L	0.29908	0.895	0.09310	N	1	D	0.76494	0.999	D	0.70935	0.971	T	0.33879	-0.9851	9	0.87932	D	0	-7.6891	9.923	0.41474	0.8294:0.1706:0.0:0.0	.	617	Q09MP3	R51A2_HUMAN	H	617	ENSP00000382030:Y617H	ENSP00000382030:Y617H	Y	-	1	0	RAD51AP2	17561315	0.000000	0.05858	0.379000	0.26080	0.205000	0.24178	0.256000	0.18351	1.876000	0.54355	0.383000	0.25322	TAT		0.269	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3		NM_001099218		8	9	0	0	0	0.00308	0	8	9		
PUM2	23369	broad.mit.edu	37	2	20455083	20455083	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:20455083T>G	ENST00000361078.2	-	17	2670	c.2648A>C	c.(2647-2649)cAt>cCt	p.H883P	PUM2_ENST00000403432.1_Missense_Mutation_p.H881P|PUM2_ENST00000319801.5_Missense_Mutation_p.H804P|PUM2_ENST00000536417.1_Missense_Mutation_p.H825P|PUM2_ENST00000338086.5_Missense_Mutation_p.H881P			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	883	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCATAAGGATGAGTTGAAAG	0.383																																						uc002rds.1		NaN																	0				ovary(1)	1						c.(2641-2643)CAT>CCT		pumilio homolog 2							86.0	83.0	84.0					2																	20455083		2203	4300	6503	SO:0001583	missense	23369				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	g.chr2:20455083T>G	AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"""pumilio (Drosphila) homolog 2"", ""pumilio homolog 2 (Drosophila)"""			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.2648A>C	2.37:g.20455083T>G	ENSP00000354370:p.His883Pro					PUM2_uc002rdq.1_Missense_Mutation_p.H260P|PUM2_uc002rdt.1_Missense_Mutation_p.H881P|PUM2_uc002rdr.2_Missense_Mutation_p.H741P|PUM2_uc010yjy.1_Missense_Mutation_p.H802P|PUM2_uc002rdu.1_Missense_Mutation_p.H881P|PUM2_uc010yjz.1_Missense_Mutation_p.H820P	p.H881P	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN			17	2665	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		883			Pumilio 5.|PUM-HD.		B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation	SNP	ENST00000361078.2	37	c.2642A>C		.	.	.	.	.	.	.	.	.	.	T	23.4	4.417745	0.83449	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000319801;ENST00000440577;ENST00000403432;ENST00000536417	T;T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29;2.29	5.6	5.6	0.85130	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.58694	0.2140	H	0.97491	4.015	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	T	0.75161	-0.3415	10	0.87932	D	0	-11.4894	15.7979	0.78424	0.0:0.0:0.0:1.0	.	825;802;881;883	B4E2B6;B7ZL34;Q8TB72-3;Q8TB72	.;.;.;PUM2_HUMAN	P	881;883;804;693;881;825	ENSP00000338173:H881P;ENSP00000354370:H883P;ENSP00000326746:H804P;ENSP00000409905:H693P;ENSP00000385992:H881P;ENSP00000440093:H825P	ENSP00000326746:H804P	H	-	2	0	PUM2	20318564	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.977000	0.88081	2.122000	0.65172	0.528000	0.53228	CAT		0.383	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_015317		14	26	0	0	0	0.00245	0	14	26		
NCOA1	8648	broad.mit.edu	37	2	24905860	24905860	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:24905860G>A	ENST00000406961.1	+	8	1047	c.395G>A	c.(394-396)aGa>aAa	p.R132K	NCOA1_ENST00000405141.1_Missense_Mutation_p.R132K|NCOA1_ENST00000348332.3_Missense_Mutation_p.R132K|NCOA1_ENST00000407230.1_5'UTR|NCOA1_ENST00000395856.3_Missense_Mutation_p.R132K|NCOA1_ENST00000538539.1_Missense_Mutation_p.R132K|NCOA1_ENST00000288599.5_Missense_Mutation_p.R132K			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	132	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|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)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTGAAGGGAGAATTGTATTT	0.368			T	PAX3	alveolar rhadomyosarcoma																																	uc002rfk.2		NaN		Dom	yes		2	2p23	8648	T	nuclear receptor coactivator 1			M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	0				soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11						c.(394-396)AGA>AAA		nuclear receptor coactivator 1 isoform 1							100.0	98.0	99.0					2																	24905860		2203	4300	6503	SO:0001583	missense	8648							g.chr2:24905860G>A	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.395G>A	2.37:g.24905860G>A	ENSP00000385216:p.Arg132Lys					NCOA1_uc010eye.2_Missense_Mutation_p.R132K|NCOA1_uc002rfi.2_5'UTR|NCOA1_uc002rfj.2_Missense_Mutation_p.R132K|NCOA1_uc002rfl.2_Missense_Mutation_p.R132K	p.R132K	NM_003743	NP_003734	Q15788	NCOA1_HUMAN			6	653	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		132			PAS.		O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	ENST00000406961.1	37	c.395G>A	CCDS1712.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.707518	0.89018	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T	0.18657	2.2;2.2;2.2;2.2;2.2;2.2	5.55	5.55	0.83447	PAS (2);PAS fold (1);	0.000000	0.85682	D	0.000000	T	0.28134	0.0694	N	0.10733	0.035	0.52099	D	0.999942	D;B;P	0.64830	0.994;0.048;0.561	D;B;P	0.67900	0.954;0.22;0.618	T	0.31194	-0.9952	10	0.48119	T	0.1	.	19.0969	0.93255	0.0:0.0:1.0:0.0	.	132;132;132	Q15788-3;Q15788;Q15788-2	.;NCOA1_HUMAN;.	K	132	ENSP00000385216:R132K;ENSP00000385097:R132K;ENSP00000444039:R132K;ENSP00000320940:R132K;ENSP00000288599:R132K;ENSP00000379197:R132K	ENSP00000288599:R132K	R	+	2	0	NCOA1	24759364	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.130000	0.57964	2.616000	0.88540	0.655000	0.94253	AGA		0.368	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3		NM_147223		32	50	0	0	0	0.013726	0	32	50		
DTNB	1838	broad.mit.edu	37	2	25851188	25851188	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:25851188G>A	ENST00000406818.3	-	4	463	c.214C>T	c.(214-216)Cat>Tat	p.H72Y	DTNB_ENST00000496972.2_Missense_Mutation_p.H15Y|DTNB_ENST00000407661.3_Missense_Mutation_p.H72Y|DTNB_ENST00000405222.1_Missense_Mutation_p.H72Y|DTNB_ENST00000404103.3_Missense_Mutation_p.H72Y|DTNB_ENST00000407186.1_Missense_Mutation_p.H72Y|DTNB_ENST00000545439.1_5'UTR|DTNB_ENST00000288642.8_Missense_Mutation_p.H72Y|DTNB_ENST00000407038.3_Missense_Mutation_p.H72Y|DTNB_ENST00000472690.1_5'UTR	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	72						cytoplasm (GO:0005737)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCGGTGGTATGGTCCAGTGTA	0.418																																						uc002rgh.2		NaN																	0				large_intestine(2)|ovary(2)	4						c.(214-216)CAT>TAT		dystrobrevin, beta isoform 1							105.0	99.0	101.0					2																	25851188		1950	4153	6103	SO:0001583	missense	1838					cytoplasm	calcium ion binding|zinc ion binding	g.chr2:25851188G>A	AF022728	CCDS46233.1, CCDS46234.1, CCDS46235.1, CCDS46236.1, CCDS46237.1, CCDS58702.1, CCDS74496.1	2p23.2	2008-05-15			ENSG00000138101	ENSG00000138101			3058	protein-coding gene	gene with protein product		602415				9419360	Standard	NM_021907		Approved		uc002rgh.4	O60941	OTTHUMG00000152129	ENST00000406818.3:c.214C>T	2.37:g.25851188G>A	ENSP00000384084:p.His72Tyr					DTNB_uc010yko.1_Missense_Mutation_p.H15Y|DTNB_uc010ykp.1_5'UTR|DTNB_uc002rgo.2_Intron|DTNB_uc002rgi.2_Missense_Mutation_p.H72Y|DTNB_uc002rgj.2_Missense_Mutation_p.H72Y|DTNB_uc002rgk.2_Missense_Mutation_p.H72Y|DTNB_uc002rgl.2_Missense_Mutation_p.H72Y|DTNB_uc002rgq.2_Missense_Mutation_p.H72Y|DTNB_uc002rgm.2_Missense_Mutation_p.H72Y|DTNB_uc002rgn.2_5'UTR|DTNB_uc002rgr.1_Missense_Mutation_p.H61Y|DTNB_uc010ykq.1_5'UTR	p.H72Y	NM_021907	NP_068707	O60941	DTNB_HUMAN			4	464	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		72					B7Z733|F5GZG4|G5E9F6|O43782|O60881|O75538|Q86VR4|Q96AW0|Q9UE14|Q9UE15|Q9UE16	Missense_Mutation	SNP	ENST00000406818.3	37	c.214C>T	CCDS46237.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.132736	0.56828	.	.	ENSG00000138101	ENST00000496972;ENST00000406818;ENST00000404103;ENST00000407661;ENST00000407038;ENST00000405222;ENST00000407186;ENST00000288642;ENST00000303659;ENST00000349996	T;T;T;T;T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	5.17	5.17	0.71159	EF-hand domain, type 1 (1);	0.049458	0.85682	D	0.000000	T	0.60038	0.2238	L	0.29908	0.895	0.80722	D	1	P;B;P;B;P;P;P;P;P	0.47350	0.566;0.055;0.736;0.03;0.832;0.871;0.871;0.69;0.894	B;B;P;B;P;B;P;P;P	0.56216	0.395;0.037;0.611;0.038;0.53;0.395;0.491;0.596;0.794	T	0.54873	-0.8228	10	0.02654	T	1	-17.3919	15.3977	0.74808	0.0:0.0:1.0:0.0	.	15;72;72;72;72;72;72;72;72	F5GZG4;O60941-3;B7Z6A9;E9PEY4;Q96AW0;O60941-2;O60941-4;G5E9F6;O60941	.;.;.;.;.;.;.;.;DTNB_HUMAN	Y	15;72;72;72;72;72;72;72;72;72	ENSP00000444463:H15Y;ENSP00000384084:H72Y;ENSP00000385482:H72Y;ENSP00000385193:H72Y;ENSP00000384767:H72Y;ENSP00000384787:H72Y;ENSP00000385784:H72Y;ENSP00000288642:H72Y;ENSP00000306529:H72Y;ENSP00000340957:H72Y	ENSP00000288642:H72Y	H	-	1	0	DTNB	25704692	1.000000	0.71417	0.995000	0.50966	0.977000	0.68977	7.876000	0.87215	2.407000	0.81776	0.655000	0.94253	CAT		0.418	DTNB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325361.1		NM_033147		12	34	0	0	0	0.010729	0	12	34		
OTOF	9381	broad.mit.edu	37	2	26703759	26703759	+	Silent	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:26703759C>G	ENST00000272371.2	-	15	1824	c.1698G>C	c.(1696-1698)cgG>cgC	p.R566R	OTOF_ENST00000402415.3_5'Flank|OTOF_ENST00000403946.3_Silent_p.R566R|OTOF_ENST00000339598.3_5'Flank|OTOF_ENST00000338581.6_5'Flank	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	566					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAGCCGGGCCCGGAAGGACA	0.642																																					GBM(102;732 1451 20652 24062 31372)	uc002rhk.2		NaN																	0				ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7						c.(1696-1698)CGG>CGC		otoferlin isoform a							56.0	53.0	54.0					2																	26703759		2203	4300	6503	SO:0001819	synonymous_variant	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26703759C>G	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.1698G>C	2.37:g.26703759C>G						OTOF_uc002rhh.2_5'Flank|OTOF_uc002rhi.2_5'Flank|OTOF_uc002rhj.2_5'Flank	p.R566R	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN			15	1825	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		566			Cytoplasmic (Potential).		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Silent	SNP	ENST00000272371.2	37	c.1698G>C	CCDS1725.1																																																																																				0.642	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3				25	41	0	0	0	0.003954	0	25	41		
OTOF	9381	broad.mit.edu	37	2	26739468	26739468	+	Splice_Site	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:26739468C>G	ENST00000272371.2	-	5	454		c.e5-1		OTOF_ENST00000403946.3_Splice_Site	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin						membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACAGGCTGGTCTGAAGGGAGG	0.602																																					GBM(102;732 1451 20652 24062 31372)	uc002rhk.2		NaN																	0				ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7						c.e5-1		otoferlin isoform a							44.0	43.0	43.0					2																	26739468		2203	4300	6503	SO:0001630	splice_region_variant	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26739468C>G	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.328-1G>C	2.37:g.26739468C>G						OTOF_uc010ylb.1_Splice_Site	p.T110_splice	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN			5	455	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)							B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Splice_Site	SNP	ENST00000272371.2	37	c.328_splice	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.980474	0.74474	.	.	ENSG00000115155	ENST00000272371;ENST00000403946	.	.	.	4.84	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4847	0.75557	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	OTOF	26592972	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	5.557000	0.67313	2.516000	0.84829	0.655000	0.94253	.		0.602	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			Intron	10	82	0	0	0	0.006214	0	10	82		
PREB	10113	broad.mit.edu	37	2	27355129	27355129	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:27355129C>T	ENST00000260643.2	-	6	1148	c.895G>A	c.(895-897)Ggc>Agc	p.G299S	PREB_ENST00000416802.1_5'Flank|PREB_ENST00000406567.3_Intron	NM_013388.4	NP_037520.1	Q9HCU5	PREB_HUMAN	prolactin regulatory element binding	299					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTTCATGGCCACAGGACTTG	0.612																																						uc002rix.1		NaN																	0				ovary(1)	1						c.(895-897)GGC>AGC		prolactin regulatory element binding protein							92.0	100.0	97.0					2																	27355129		2203	4300	6503	SO:0001583	missense	10113				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|nucleus	DNA binding|guanyl-nucleotide exchange factor activity|protein binding	g.chr2:27355129C>T		CCDS1738.1	2p23	2013-01-10			ENSG00000138073	ENSG00000138073		"""WD repeat domain containing"""	9356	protein-coding gene	gene with protein product		606395				10194769, 12735795	Standard	NM_013388		Approved	SEC12	uc002rix.1	Q9HCU5	OTTHUMG00000097076	ENST00000260643.2:c.895G>A	2.37:g.27355129C>T	ENSP00000260643:p.Gly299Ser					PREB_uc002riy.1_Missense_Mutation_p.G227S|PREB_uc002riz.1_RNA|PREB_uc002rja.1_Intron	p.G299S	NM_013388	NP_037520	Q9HCU5	PREB_HUMAN			6	1148	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		299			Cytoplasmic (Potential).|WD 3.		Q53SZ8|Q9UH94	Missense_Mutation	SNP	ENST00000260643.2	37	c.895G>A	CCDS1738.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.4|25.4	4.636615|4.636615	0.87760|0.87760	.|.	.|.	ENSG00000138073|ENSG00000138073	ENST00000260643;ENST00000546336|ENST00000456259;ENST00000430533	T|.	0.31510|.	1.49|.	6.08|6.08	5.2|5.2	0.72013|0.72013	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.73063|.	0.3539|.	M|M	0.75264|0.75264	2.295|2.295	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|.	0.73824|.	-0.3861|.	10|.	0.06494|.	T|.	0.89|.	-15.7626|-15.7626	13.0419|13.0419	0.58904|0.58904	0.0:0.9229:0.0:0.0771|0.0:0.9229:0.0:0.0771	.|.	299|.	Q9HCU5|.	PREB_HUMAN|.	S|X	299|42;54	ENSP00000260643:G299S|.	ENSP00000260643:G299S|.	G|W	-|-	1|2	0|0	PREB|PREB	27208633|27208633	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.103000|7.103000	0.77014|0.77014	1.592000|1.592000	0.50018|0.50018	0.655000|0.655000	0.94253|0.94253	GGC|TGG		0.612	PREB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214195.1		NM_013388		15	136	0	0	0	0.003163	0	15	136		
ATRAID	51374	broad.mit.edu	37	2	27440858	27440858	+	IGR	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:27440858G>A	ENST00000606999.1	+	0	956				CAD_ENST00000403525.1_Missense_Mutation_p.E66K|CAD_ENST00000264705.4_Missense_Mutation_p.E66K	NM_001170795.1	NP_001164266.1	Q6UW56	ARAID_HUMAN	all-trans retinoic acid-induced differentiation factor						cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)											CCCCCCAGATGAAATGGATGA	0.502																																						uc002rji.2		NaN																	0				ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10						c.(196-198)GAA>AAA		carbamoylphosphate synthetase 2/aspartate	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						103.0	92.0	96.0					2																	27440858		2203	4300	6503	SO:0001628	intergenic_variant	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27440858G>A	BC021237	CCDS1741.1, CCDS46243.1, CCDS62877.1	2p23.3	2012-08-01	2012-07-30	2012-07-30	ENSG00000138085	ENSG00000138085			24090	protein-coding gene	gene with protein product	"""apoptosis-related protein 3"""		"""chromosome 2 open reading frame 28"""	C2orf28		17524364, 21723284	Standard	NM_016085		Approved	HSPC013, p18, APR3	uc002rjf.3	Q6UW56	OTTHUMG00000128405		2.37:g.27440858G>A						CAD_uc010eyw.2_Missense_Mutation_p.E66K	p.E66K	NM_004341	NP_004332	P27708	PYR1_HUMAN			2	358	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		66			GATase (Glutamine amidotransferase).		A8C1S2|A8K779|Q96FF6|Q96RT2|Q9Y2R7|Q9Y5L7	Missense_Mutation	SNP	ENST00000606999.1	37	c.196G>A		.	.	.	.	.	.	.	.	.	.	G	17.53	3.413780	0.62511	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.94092	-3.35;-3.35	4.98	4.07	0.47477	Carbamoyl-phosphate synthase, small subunit, N-terminal (3);	0.063956	0.64402	D	0.000011	D	0.90497	0.7023	L	0.46157	1.445	0.42803	D	0.993939	B;B	0.29481	0.136;0.245	B;B	0.31946	0.071;0.138	D	0.88529	0.3101	10	0.44086	T	0.13	-0.9152	13.2826	0.60224	0.0:0.304:0.696:0.0	.	66;66	F8VPD4;P27708	.;PYR1_HUMAN	K	66	ENSP00000264705:E66K;ENSP00000384510:E66K	ENSP00000264705:E66K	E	+	1	0	CAD	27294362	1.000000	0.71417	0.861000	0.33841	0.967000	0.64934	4.678000	0.61641	1.275000	0.44379	0.430000	0.28490	GAA		0.502	ATRAID-007	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470709.1		NM_016085		17	59	0	0	0	0.00499	0	17	59		
CAD	790	broad.mit.edu	37	2	27449800	27449800	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:27449800A>G	ENST00000403525.1	+	14	2212	c.2068A>G	c.(2068-2070)Aca>Gca	p.T690A	CAD_ENST00000264705.4_Missense_Mutation_p.T753A			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCGAGTCAGCACAAAGATTGG	0.532																																						uc002rji.2		NaN																	0				ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10						c.(2257-2259)ACA>GCA		carbamoylphosphate synthetase 2/aspartate	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						111.0	112.0	112.0					2																	27449800		2203	4300	6503	SO:0001583	missense	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27449800A>G	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.2068A>G	2.37:g.27449800A>G	ENSP00000384510:p.Thr690Ala					CAD_uc010eyw.2_Missense_Mutation_p.T690A	p.T753A	NM_004341	NP_004332	P27708	PYR1_HUMAN			15	2419	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		753			CPSase (Carbamoyl-phosphate synthase).|CPSase A.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37	c.2257A>G		.	.	.	.	.	.	.	.	.	.	A	16.25	3.070696	0.55539	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.95412	-3.7;-3.7	4.38	4.38	0.52667	ATP-grasp fold, subdomain 2 (1);	0.099013	0.64402	D	0.000001	D	0.93782	0.8012	L	0.55103	1.725	0.80722	D	1	B;B	0.31989	0.35;0.044	B;B	0.37387	0.248;0.036	D	0.93017	0.6437	10	0.46703	T	0.11	-4.1688	12.5967	0.56474	1.0:0.0:0.0:0.0	.	690;753	F8VPD4;P27708	.;PYR1_HUMAN	A	753;690	ENSP00000264705:T753A;ENSP00000384510:T690A	ENSP00000264705:T753A	T	+	1	0	CAD	27303304	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	6.851000	0.75425	1.849000	0.53698	0.397000	0.26171	ACA		0.532	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1				44	97	0	0	0	0.01441	0	44	97		
LCLAT1	253558	broad.mit.edu	37	2	30790955	30790955	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:30790955G>C	ENST00000309052.4	+	6	864	c.655G>C	c.(655-657)Gct>Cct	p.A219P	LCLAT1_ENST00000359433.1_Missense_Mutation_p.A219P|LCLAT1_ENST00000379509.3_Missense_Mutation_p.A181P|LCLAT1_ENST00000540623.1_Missense_Mutation_p.A181P|LCLAT1_ENST00000319406.4_Missense_Mutation_p.A219P|LCLAT1_ENST00000491680.2_3'UTR	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	219					cardiolipin acyl-chain remodeling (GO:0035965)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|multicellular organismal development (GO:0007275)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						TAATGCATTTGCTGAAAAAAA	0.343																																						uc002rnj.2		NaN																	0				ovary(2)	2						c.(655-657)GCT>CCT		lysocardiolipin acyltransferase 1 isoform 1							62.0	67.0	65.0					2																	30790955		2202	4298	6500	SO:0001583	missense	253558				multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr2:30790955G>C	AK095284	CCDS1772.1, CCDS42670.1	2p23.1	2008-12-15	2008-12-15	2008-12-15	ENSG00000172954	ENSG00000172954			26756	protein-coding gene	gene with protein product		614241	"""lysocardiolipin acyltransferase"""	LYCAT		18931347, 15152008, 16620771, 17675553	Standard	NM_001002257		Approved	FLJ37965, ALCAT1, AGPAT8	uc002rnl.3	Q6UWP7	OTTHUMG00000099349	ENST00000309052.4:c.655G>C	2.37:g.30790955G>C	ENSP00000310551:p.Ala219Pro					LCLAT1_uc010ymp.1_Missense_Mutation_p.A57P|LCLAT1_uc002rnk.1_Missense_Mutation_p.A219P|LCLAT1_uc002rnl.2_Missense_Mutation_p.A181P|LCLAT1_uc010ymq.1_Missense_Mutation_p.A181P	p.A219P	NM_182551	NP_872357	Q6UWP7	LCLT1_HUMAN			6	864	+			219					A6H8Z7|Q8N1Q7	Missense_Mutation	SNP	ENST00000309052.4	37	c.655G>C	CCDS1772.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335946	0.81801	.	.	ENSG00000172954	ENST00000379509;ENST00000444270;ENST00000319406;ENST00000309052;ENST00000359433;ENST00000540623;ENST00000476038	D;T;D;T;D;T	0.93659	-3.26;0.13;-3.26;0.13;-3.26;0.45	5.51	5.51	0.81932	Phospholipid/glycerol acyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.97929	0.9319	H	0.95437	3.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98621	1.0667	10	0.87932	D	0	-17.2013	19.7747	0.96386	0.0:0.0:1.0:0.0	.	219;219	Q6UWP7-2;Q6UWP7	.;LCLT1_HUMAN	P	181;181;219;219;219;181;132	ENSP00000368823:A181P;ENSP00000368826:A219P;ENSP00000310551:A219P;ENSP00000352406:A219P;ENSP00000442857:A181P;ENSP00000419646:A132P	ENSP00000310551:A219P	A	+	1	0	LCLAT1	30644459	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	8.286000	0.89916	2.750000	0.94351	0.585000	0.79938	GCT		0.343	LCLAT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000216780.1		NM_182551		25	46	0	0	0	0.005443	0	25	46		
GALM	130589	broad.mit.edu	37	2	38956810	38956810	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:38956810G>A	ENST00000272252.5	+	5	999	c.747G>A	c.(745-747)aaG>aaA	p.K249K	GALM_ENST00000410063.1_Silent_p.K101K	NM_138801.2	NP_620156.1	Q96C23	GALM_HUMAN	galactose mutarotase (aldose 1-epimerase)	249					galactose metabolic process (GO:0006012)|glucose metabolic process (GO:0006006)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldose 1-epimerase activity (GO:0004034)|carbohydrate binding (GO:0030246)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	14		all_hematologic(82;0.248)				TCTGTCTGAAGGGATCTAAAG	0.438																																						uc002rqy.2		NaN																	0					0						c.(745-747)AAG>AAA		galactose mutarotase							110.0	114.0	113.0					2																	38956810		2203	4300	6503	SO:0001819	synonymous_variant	130589				hexose metabolic process	cytoplasm	aldose 1-epimerase activity|carbohydrate binding	g.chr2:38956810G>A		CCDS1797.1	2p22.3	2008-02-05			ENSG00000143891	ENSG00000143891			24063	protein-coding gene	gene with protein product	"""aldose 1 epimerase"""	608883				12753898	Standard	NM_138801		Approved		uc002rqy.3	Q96C23	OTTHUMG00000102077	ENST00000272252.5:c.747G>A	2.37:g.38956810G>A							p.K249K	NM_138801	NP_620156	Q96C23	GALM_HUMAN			5	999	+		all_hematologic(82;0.248)	249					Q53RY1|Q8NIA2|V9HWA8	Silent	SNP	ENST00000272252.5	37	c.747G>A	CCDS1797.1																																																																																				0.438	GALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219891.2		NM_138801		29	74	0	0	0	0.008361	0	29	74		
GALM	130589	broad.mit.edu	37	2	38958959	38958959	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:38958959G>A	ENST00000272252.5	+	6	1111	c.859G>A	c.(859-861)Gat>Aat	p.D287N	GALM_ENST00000410063.1_Missense_Mutation_p.D139N	NM_138801.2	NP_620156.1	Q96C23	GALM_HUMAN	galactose mutarotase (aldose 1-epimerase)	287					galactose metabolic process (GO:0006012)|glucose metabolic process (GO:0006006)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldose 1-epimerase activity (GO:0004034)|carbohydrate binding (GO:0030246)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	14		all_hematologic(82;0.248)				CAACTTCCTGGATGGCACATT	0.527																																						uc002rqy.2		NaN																	0					0						c.(859-861)GAT>AAT		galactose mutarotase							80.0	85.0	83.0					2																	38958959		2203	4300	6503	SO:0001583	missense	130589				hexose metabolic process	cytoplasm	aldose 1-epimerase activity|carbohydrate binding	g.chr2:38958959G>A		CCDS1797.1	2p22.3	2008-02-05			ENSG00000143891	ENSG00000143891			24063	protein-coding gene	gene with protein product	"""aldose 1 epimerase"""	608883				12753898	Standard	NM_138801		Approved		uc002rqy.3	Q96C23	OTTHUMG00000102077	ENST00000272252.5:c.859G>A	2.37:g.38958959G>A	ENSP00000272252:p.Asp287Asn						p.D287N	NM_138801	NP_620156	Q96C23	GALM_HUMAN			6	1111	+		all_hematologic(82;0.248)	287					Q53RY1|Q8NIA2|V9HWA8	Missense_Mutation	SNP	ENST00000272252.5	37	c.859G>A	CCDS1797.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183085	0.78677	.	.	ENSG00000143891	ENST00000272252;ENST00000410063;ENST00000434934	T;T;T	0.45276	0.9;0.93;0.9	5.94	5.06	0.68205	Glycoside hydrolase-type carbohydrate-binding, subgroup (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.047081	0.85682	N	0.000000	T	0.45895	0.1365	L	0.41079	1.255	0.80722	D	1	P	0.39717	0.684	P	0.47941	0.562	T	0.39781	-0.9597	10	0.45353	T	0.12	-19.2929	14.7511	0.69528	0.0697:0.0:0.9303:0.0	.	287	Q96C23	GALM_HUMAN	N	287;139;167	ENSP00000272252:D287N;ENSP00000386233:D139N;ENSP00000399473:D167N	ENSP00000272252:D287N	D	+	1	0	GALM	38812463	1.000000	0.71417	1.000000	0.80357	0.597000	0.36814	7.688000	0.84153	1.523000	0.49018	0.557000	0.71058	GAT		0.527	GALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219891.2		NM_138801		31	66	0	0	0	0.010818	0	31	66		
MAP4K3	8491	broad.mit.edu	37	2	39664039	39664039	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:39664039G>A	ENST00000263881.3	-	1	414	c.90C>T	c.(88-90)gtC>gtT	p.V30V	AC007246.3_ENST00000443038.1_RNA|AC007246.3_ENST00000426083.1_RNA|AC007246.3_ENST00000445520.1_RNA|AC007246.3_ENST00000422128.1_RNA|MAP4K3_ENST00000484274.1_Silent_p.V30V|MAP4K3_ENST00000341681.5_Silent_p.V30V|AC007246.3_ENST00000449569.1_RNA	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	30	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				TTACCTTGTAGACGTCGCCGT	0.701																																						uc002rro.2		NaN																	0				ovary(3)|lung(3)|stomach(1)|pancreas(1)	8						c.(88-90)GTC>GTT		mitogen-activated protein kinase kinase kinase							13.0	15.0	14.0					2																	39664039		2188	4282	6470	SO:0001819	synonymous_variant	8491				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:39664039G>A	AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.90C>T	2.37:g.39664039G>A						MAP4K3_uc002rrp.2_Silent_p.V30V|uc002rrq.2_Intron|uc002rrr.1_5'Flank	p.V30V	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN			1	181	-		all_hematologic(82;0.211)	30			Protein kinase.|ATP (By similarity).		Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Silent	SNP	ENST00000263881.3	37	c.90C>T	CCDS1803.1																																																																																				0.701	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2		NM_003618		8	14	0	0	0	0.004482	0	8	14		
C2orf61	285051	broad.mit.edu	37	2	47378469	47378469	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:47378469C>T	ENST00000445927.2	-	3	453	c.327G>A	c.(325-327)aaG>aaA	p.K109K	C2orf61_ENST00000294947.2_Silent_p.K109K|RP11-761B3.1_ENST00000422269.1_3'UTR	NM_001163561.1	NP_001157033.1	Q8N801	CB061_HUMAN	chromosome 2 open reading frame 61	109								p.0?(2)		endometrium(1)|kidney(1)|lung(2)	4		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CCACTTGCTTCTTTAACAGGT	0.453																																						uc002rvs.2		NaN																	2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)		0						c.(325-327)AAG>AAA		hypothetical protein LOC285051 isoform 2							184.0	167.0	173.0					2																	47378469		2203	4300	6503	SO:0001819	synonymous_variant	285051							g.chr2:47378469C>T	AK097491	CCDS1831.1, CCDS54356.1	2p21	2008-02-05			ENSG00000239605	ENSG00000239605			26850	protein-coding gene	gene with protein product							Standard	NM_173649		Approved	FLJ40172	uc010yog.2	Q8N801	OTTHUMG00000128851	ENST00000445927.2:c.327G>A	2.37:g.47378469C>T						C2orf61_uc010fbd.2_RNA|C2orf61_uc010yog.1_Silent_p.K109K	p.K109K	NM_173649	NP_775920	Q8N801	CB061_HUMAN	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		3	454	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	109					H7C2Z2	Silent	SNP	ENST00000445927.2	37	c.327G>A	CCDS54356.1																																																																																				0.453	C2orf61-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_173649		32	72	0	0	0	0.012213	0	32	72		
GTF2A1L	11036	broad.mit.edu	37	2	48848387	48848387	+	Nonsense_Mutation	SNP	C	C	T	rs565482782		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:48848387C>T	ENST00000403751.3	+	3	242	c.205C>T	c.(205-207)Cag>Tag	p.Q69*	STON1-GTF2A1L_ENST00000405008.1_Nonsense_Mutation_p.Q773*|STON1-GTF2A1L_ENST00000394754.1_Nonsense_Mutation_p.Q773*|STON1-GTF2A1L_ENST00000394751.3_Nonsense_Mutation_p.Q773*|STON1-GTF2A1L_ENST00000309827.2_Nonsense_Mutation_p.Q773*|STON1-GTF2A1L_ENST00000402114.2_Nonsense_Mutation_p.Q773*|GTF2A1L_ENST00000430487.2_Nonsense_Mutation_p.Q35*|GTF2A1L_ENST00000468326.1_3'UTR	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like	69					cognition (GO:0050890)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			lung(7)	7		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GTTTACTCTTCAGTTGCCGCA	0.408													C|||	1	0.000199681	0.0	0.0	5008	,	,		16293	0.0		0.001	False		,,,				2504	0.0					uc010yol.1		NaN																	0				ovary(3)|pancreas(1)|skin(1)	5						c.(2317-2319)CAG>TAG		stonin 1							82.0	83.0	82.0					2																	48848387		2203	4300	6503	SO:0001587	stop_gained	286749				endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		g.chr2:48848387C>T	AF106857	CCDS46281.1, CCDS54359.1	2p16.3	2007-08-02			ENSG00000242441	ENSG00000242441			30727	protein-coding gene	gene with protein product	"""TFIIA alpha/beta like factor"""	605358				10364255, 11889132, 16525715	Standard	NM_006872		Approved	ALF		Q9UNN4	OTTHUMG00000152038	ENST00000403751.3:c.205C>T	2.37:g.48848387C>T	ENSP00000384597:p.Gln69*					STON1-GTF2A1L_uc002rwp.1_Nonsense_Mutation_p.Q773*|GTF2A1L_uc002rws.1_Nonsense_Mutation_p.Q69*|GTF2A1L_uc010yom.1_Nonsense_Mutation_p.Q35*|GTF2A1L_uc002rwt.2_Nonsense_Mutation_p.Q69*	p.Q773*	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		4	2364	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	773					B4DY14|Q53FD9|Q5D050	Nonsense_Mutation	SNP	ENST00000403751.3	37	c.2317C>T	CCDS46281.1	.	.	.	.	.	.	.	.	.	.	C	39	7.726760	0.98456	.	.	ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000242441;ENSG00000242441;ENSG00000242441;ENSG00000242441	ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751;ENST00000394749;ENST00000448460;ENST00000437125;ENST00000430487;ENST00000403751	.	.	.	4.69	4.69	0.59074	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.1407	0.86752	0.0:1.0:0.0:0.0	.	.	.	.	X	773;773;773;773;773;68;35;69;35;69	.	ENSP00000384597:Q69X	Q	+	1	0	STON1-GTF2A1L;GTF2A1L	48701891	1.000000	0.71417	0.997000	0.53966	0.744000	0.42396	4.393000	0.59665	2.595000	0.87683	0.563000	0.77884	CAG		0.408	GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323852.4		NM_006872		15	27	0	0	0	0.003163	0	15	27		
NRXN1	9378	broad.mit.edu	37	2	50850596	50850596	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:50850596A>G	ENST00000406316.2	-	6	2466	c.990T>C	c.(988-990)taT>taC	p.Y330Y	NRXN1_ENST00000404971.1_Silent_p.Y363Y|NRXN1_ENST00000401669.2_Silent_p.Y330Y|NRXN1_ENST00000405472.3_Silent_p.Y330Y|NRXN1_ENST00000406859.3_Silent_p.Y330Y|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Silent_p.Y330Y	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	330	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CAAGATTGACATAATCAGCCG	0.433																																						uc010fbq.2		NaN																	0				ovary(2)	2						c.(1087-1089)TAT>TAC		neurexin 1 isoform alpha2 precursor							177.0	165.0	169.0					2																	50850596		1894	4108	6002	SO:0001819	synonymous_variant	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50850596A>G	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.990T>C	2.37:g.50850596A>G						NRXN1_uc002rxb.3_Silent_p.Y10Y|NRXN1_uc002rxe.3_Silent_p.Y330Y|NRXN1_uc002rxc.1_RNA	p.Y363Y	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		6	2566	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	142			Extracellular (Potential).|Laminin G-like.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	c.1089T>C	CCDS54360.1																																																																																				0.433	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2				59	100	0	0	0	0.01441	0	59	100		
FAM161A	84140	broad.mit.edu	37	2	62067514	62067514	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:62067514C>T	ENST00000405894.3	-	3	726	c.625G>A	c.(625-627)Gag>Aag	p.E209K	FAM161A_ENST00000404929.1_Missense_Mutation_p.E209K	NM_032180.2	NP_115556.2	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	209					cilium assembly (GO:0042384)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATATAATCCTCAACACAAAAG	0.408																																						uc010ypo.1		NaN																	0				large_intestine(2)|ovary(1)	3						c.(625-627)GAG>AAG		hypothetical protein LOC84140							209.0	187.0	194.0					2																	62067514		1872	4102	5974	SO:0001583	missense	84140				response to stimulus|visual perception	centrosome		g.chr2:62067514C>T		CCDS42687.2, CCDS56120.1	2p15	2011-03-15			ENSG00000170264	ENSG00000170264			25808	protein-coding gene	gene with protein product		613596	"""retinitis pigmentosa 28 (autosomal recessive)"""	RP28		10507729, 20705278, 20705279	Standard	NM_032180		Approved	FLJ13305	uc002sbm.4	Q3B820	OTTHUMG00000152165	ENST00000405894.3:c.625G>A	2.37:g.62067514C>T	ENSP00000385893:p.Glu209Lys					FAM161A_uc002sbm.3_Missense_Mutation_p.E209K|FAM161A_uc002sbn.3_Missense_Mutation_p.E19K|FAM161A_uc010fcm.1_RNA|FAM161A_uc010fcn.1_Missense_Mutation_p.E100K	p.E209K	NM_032180	NP_115556	Q3B820	F161A_HUMAN			3	727	-			209					B4DJV7|Q9H8R2	Missense_Mutation	SNP	ENST00000405894.3	37	c.625G>A	CCDS42687.2	.	.	.	.	.	.	.	.	.	.	C	7.972	0.749350	0.15710	.	.	ENSG00000170264	ENST00000404929;ENST00000405894	T;T	0.23754	2.68;1.89	5.55	0.819	0.18785	.	0.397464	0.28606	N	0.014757	T	0.26122	0.0637	L	0.51422	1.61	0.21499	N	0.999667	B;P	0.40638	0.073;0.725	B;P	0.45449	0.071;0.481	T	0.09228	-1.0684	10	0.54805	T	0.06	-12.9842	7.9012	0.29736	0.0:0.6357:0.1181:0.2462	.	209;209	Q3B820;Q3B820-3	F161A_HUMAN;.	K	209	ENSP00000385158:E209K;ENSP00000385893:E209K	ENSP00000385158:E209K	E	-	1	0	FAM161A	61921018	0.415000	0.25416	0.518000	0.27811	0.094000	0.18550	0.707000	0.25704	0.209000	0.20645	0.655000	0.94253	GAG		0.408	FAM161A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325537.2		NM_032180		17	106	0	0	0	0.007413	0	17	106		
OTX1	5013	broad.mit.edu	37	2	63283050	63283050	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:63283050C>A	ENST00000282549.2	+	5	940	c.664C>A	c.(664-666)Ccc>Acc	p.P222T	OTX1_ENST00000366671.3_Missense_Mutation_p.P222T	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	222					anterior/posterior pattern specification (GO:0009952)|diencephalon morphogenesis (GO:0048852)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					AGCCTCTTATCCCATGTCCTA	0.662																																						uc002scd.2		NaN																	0				pancreas(2)	2						c.(664-666)CCC>ACC		orthodenticle homeobox 1							32.0	34.0	33.0					2																	63283050		2202	4299	6501	SO:0001583	missense	5013					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:63283050C>A		CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507		"""Homeoboxes / PRD class"""	8521	protein-coding gene	gene with protein product		600036	"""orthodenticle (Drosophila) homolog 1"", ""orthodenticle homolog 1 (Drosophila)"""			7959790	Standard	NM_001199770		Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.664C>A	2.37:g.63283050C>A	ENSP00000282549:p.Pro222Thr					OTX1_uc010ypt.1_Missense_Mutation_p.P156T	p.P222T	NM_014562	NP_055377	P32242	OTX1_HUMAN			5	912	+	Lung NSC(7;0.121)|all_lung(7;0.211)		222					A6NHA2|B3KTJ4|Q53TG6	Missense_Mutation	SNP	ENST00000282549.2	37	c.664C>A	CCDS1873.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.383689	0.61845	.	.	ENSG00000115507	ENST00000366671;ENST00000282549	D;D	0.88354	-2.37;-2.37	3.67	3.67	0.42095	Transcription factor Otx, C-terminal (1);	0.069103	0.64402	D	0.000016	D	0.92237	0.7538	M	0.69523	2.12	0.58432	D	0.999994	D	0.56521	0.976	P	0.61275	0.886	D	0.91910	0.5539	10	0.44086	T	0.13	.	13.2266	0.59919	0.0:1.0:0.0:0.0	.	222	P32242	OTX1_HUMAN	T	222	ENSP00000355631:P222T;ENSP00000282549:P222T	ENSP00000282549:P222T	P	+	1	0	OTX1	63136554	0.993000	0.37304	0.997000	0.53966	0.831000	0.47069	3.020000	0.49643	2.029000	0.59856	0.462000	0.41574	CCC		0.662	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1				20	36	1	0	2.94398e-08	0.007413	3.09477e-08	20	36		
MEIS1	4211	broad.mit.edu	37	2	66664922	66664922	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:66664922G>A	ENST00000272369.9	+	2	523	c.66G>A	c.(64-66)acG>acA	p.T22T	MEIS1_ENST00000407092.2_Silent_p.T22T|MEIS1_ENST00000488550.1_Silent_p.T22T|MEIS1_ENST00000560281.2_Silent_p.T22T|MEIS1-AS2_ENST00000439433.1_RNA|MEIS1_ENST00000495021.2_5'Flank|MEIS1_ENST00000398506.2_Silent_p.T20T|MEIS1-AS1_ENST00000454595.1_RNA|MEIS1_ENST00000444274.2_5'Flank	NM_002398.2	NP_002389.1	O00470	MEIS1_HUMAN	Meis homeobox 1	22					angiogenesis (GO:0001525)|definitive hemopoiesis (GO:0060216)|lens morphogenesis in camera-type eye (GO:0002089)|megakaryocyte development (GO:0035855)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron differentiation (GO:0045665)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						TCCCCTCCACGATGTATGGGG	0.602																																						uc002sdu.2		NaN																	0					0						c.(64-66)ACG>ACA		Meis homeobox 1							45.0	48.0	47.0					2																	66664922		2071	4214	6285	SO:0001819	synonymous_variant	4211						sequence-specific DNA binding transcription factor activity	g.chr2:66664922G>A		CCDS46309.1	2p14	2011-06-20	2007-02-15		ENSG00000143995	ENSG00000143995		"""Homeoboxes / TALE class"""	7000	protein-coding gene	gene with protein product		601739	"""Meis1 (mouse) homolog"", ""Meis1, myeloid ecotropic viral integration site 1 homolog (mouse)"""			7565694	Standard	NM_002398		Approved		uc002sdu.3	O00470	OTTHUMG00000150714	ENST00000272369.9:c.66G>A	2.37:g.66664922G>A						MEIS1_uc002sdt.2_Silent_p.T22T|MEIS1_uc002sdv.2_Silent_p.T20T|MEIS1_uc010yqh.1_RNA|MEIS1_uc010yqi.1_5'Flank|MEIS1_uc002sdw.1_5'Flank	p.T22T	NM_002398	NP_002389	O00470	MEIS1_HUMAN			2	523	+			22					A8MV50	Silent	SNP	ENST00000272369.9	37	c.66G>A	CCDS46309.1																																																																																				0.602	MEIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319725.4		NM_002398		14	37	0	0	0	0.004007	0	14	37		
ETAA1	54465	broad.mit.edu	37	2	67630885	67630885	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:67630885G>A	ENST00000272342.5	+	5	1201	c.1071G>A	c.(1069-1071)gtG>gtA	p.V357V	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	357						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						AATCATGTGTGACTTCCTGTA	0.353																																						uc002sdz.1		NaN																	0				ovary(3)|large_intestine(1)	4						c.(1069-1071)GTG>GTA		ETAA16 protein							71.0	71.0	71.0					2																	67630885		2202	4299	6501	SO:0001819	synonymous_variant	54465					cytoplasm|nucleus		g.chr2:67630885G>A	AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"""Ewing's tumor-associated antigen 1"""			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.1071G>A	2.37:g.67630885G>A							p.V357V	NM_019002	NP_061875	Q9NY74	ETAA1_HUMAN			5	1210	+			357					Q05BT7|Q53SC4	Silent	SNP	ENST00000272342.5	37	c.1071G>A	CCDS1882.1																																																																																				0.353	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1		NM_019002		22	27	0	0	0	0.00278	0	22	27		
ETAA1	54465	broad.mit.edu	37	2	67630955	67630955	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:67630955G>A	ENST00000272342.5	+	5	1271	c.1141G>A	c.(1141-1143)Gat>Aat	p.D381N	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	381						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						TGATTTTGAGGATGATTGGGA	0.363																																						uc002sdz.1		NaN																	0				ovary(3)|large_intestine(1)	4						c.(1141-1143)GAT>AAT		ETAA16 protein							90.0	93.0	92.0					2																	67630955		2203	4297	6500	SO:0001583	missense	54465					cytoplasm|nucleus		g.chr2:67630955G>A	AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"""Ewing's tumor-associated antigen 1"""			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.1141G>A	2.37:g.67630955G>A	ENSP00000272342:p.Asp381Asn						p.D381N	NM_019002	NP_061875	Q9NY74	ETAA1_HUMAN			5	1280	+			381					Q05BT7|Q53SC4	Missense_Mutation	SNP	ENST00000272342.5	37	c.1141G>A	CCDS1882.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.072959	0.76415	.	.	ENSG00000143971	ENST00000272342	T	0.25912	1.77	5.77	5.77	0.91146	.	0.052838	0.64402	D	0.000001	T	0.50292	0.1607	M	0.73962	2.25	0.51233	D	0.999919	D	0.63046	0.992	P	0.61592	0.891	T	0.51044	-0.8755	10	0.87932	D	0	-22.1084	17.477	0.87661	0.0:0.0:1.0:0.0	.	381	Q9NY74	ETAA1_HUMAN	N	381	ENSP00000272342:D381N	ENSP00000272342:D381N	D	+	1	0	ETAA1	67484459	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	3.624000	0.54231	2.722000	0.93159	0.655000	0.94253	GAT		0.363	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1		NM_019002		28	46	0	0	0	0.008361	0	28	46		
PCBP1	5093	broad.mit.edu	37	2	70315790	70315790	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:70315790C>T	ENST00000303577.5	+	1	1206	c.915C>T	c.(913-915)atC>atT	p.I305I	PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000434781.1_RNA|PCBP1-AS1_ENST00000437019.1_RNA|PCBP1-AS1_ENST00000452431.1_RNA|PCBP1-AS1_ENST00000457770.1_RNA|PCBP1-AS1_ENST00000415742.1_RNA|PCBP1-AS1_ENST00000366234.3_RNA|PCBP1-AS1_ENST00000599673.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000415222.1_RNA|PCBP1-AS1_ENST00000596028.1_RNA|PCBP1-AS1_ENST00000415060.2_RNA|PCBP1-AS1_ENST00000456161.1_RNA|PCBP1-AS1_ENST00000419963.1_RNA|PCBP1-AS1_ENST00000423402.1_RNA|PCBP1-AS1_ENST00000439892.1_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000418308.1_RNA|PCBP1-AS1_ENST00000442040.1_RNA|PCBP1-AS1_ENST00000413791.1_RNA|PCBP1-AS1_ENST00000444320.1_RNA|PCBP1-AS1_ENST00000601396.1_RNA|PCBP1-AS1_ENST00000416068.1_RNA|PCBP1-AS1_ENST00000413069.1_RNA|PCBP1-AS1_ENST00000444410.1_RNA|PCBP1-AS1_ENST00000420309.1_RNA|PCBP1-AS1_ENST00000610168.1_RNA|PCBP1-AS1_ENST00000425601.1_RNA|PCBP1-AS1_ENST00000595459.1_RNA|PCBP1-AS1_ENST00000416395.1_RNA|PCBP1-AS1_ENST00000432604.1_RNA|PCBP1-AS1_ENST00000596665.1_RNA|PCBP1-AS1_ENST00000596573.1_RNA|AC016700.2_ENST00000455541.1_lincRNA|PCBP1-AS1_ENST00000439670.2_RNA|PCBP1-AS1_ENST00000458698.2_RNA|PCBP1-AS1_ENST00000437456.1_RNA|PCBP1-AS1_ENST00000425333.1_RNA|PCBP1-AS1_ENST00000421843.1_RNA|PCBP1-AS1_ENST00000609075.1_RNA|PCBP1-AS1_ENST00000449178.1_RNA|PCBP1-AS1_ENST00000458686.1_RNA|PCBP1-AS1_ENST00000422515.1_RNA|PCBP1-AS1_ENST00000594548.1_RNA|PCBP1-AS1_ENST00000429599.2_RNA|PCBP1-AS1_ENST00000411429.1_RNA	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	305	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						TTAATGAGATCCGCCAGATGT	0.502																																					Colon(85;1146 1307 3484 18706 25380)	uc002sgf.2		NaN																	0					0						c.(913-915)ATC>ATT		poly(rC) binding protein 1							47.0	48.0	48.0					2																	70315790		2203	4300	6503	SO:0001819	synonymous_variant	5093				nuclear mRNA splicing, via spliceosome	cytoplasm|nucleoplasm|ribonucleoprotein complex	protein binding|RNA binding|single-stranded DNA binding	g.chr2:70315790C>T		CCDS1898.1	2p13-p12	2013-07-16	2001-11-28		ENSG00000169564	ENSG00000169564			8647	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein E1"""	601209	"""poly(rC)-binding protein 1"""			8833161	Standard	NM_006196		Approved	HNRPE1, hnRNP-E1, HNRPX, hnRNP-X	uc002sgf.3	Q15365	OTTHUMG00000129645	ENST00000303577.5:c.915C>T	2.37:g.70315790C>T						ASPRV1_uc002sga.2_5'Flank|uc002sgb.1_5'Flank|uc002sgd.2_5'Flank|uc002sge.1_5'Flank	p.I305I	NM_006196	NP_006187	Q15365	PCBP1_HUMAN			1	1206	+			305			KH 3.		Q13157|Q14975	Silent	SNP	ENST00000303577.5	37	c.915C>T	CCDS1898.1																																																																																				0.502	PCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251844.1		NM_006196		25	39	0	0	0	0.00333	0	25	39		
HTRA2	27429	broad.mit.edu	37	2	74757805	74757805	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:74757805G>A	ENST00000258080.3	+	2	1198	c.568G>A	c.(568-570)Gat>Aat	p.D190N	HTRA2_ENST00000352222.3_Missense_Mutation_p.D190N|HTRA2_ENST00000467961.1_3'UTR|AUP1_ENST00000377526.3_5'Flank	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	190	Serine protease.				adult walking behavior (GO:0007628)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|ceramide metabolic process (GO:0006672)|execution phase of apoptosis (GO:0097194)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitochondrion organization (GO:0007005)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|pentacyclic triterpenoid metabolic process (GO:0019742)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell death (GO:0010942)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of mitochondrion degradation (GO:1903146)|regulation of multicellular organism growth (GO:0040014)|response to herbicide (GO:0009635)	CD40 receptor complex (GO:0035631)|chromatin (GO:0000785)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)|unfolded protein binding (GO:0051082)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						GGTGGCTGCCGATGGGCTCAT	0.592																																						uc002smi.1		NaN																	0				ovary(1)	1						c.(568-570)GAT>AAT		HtrA serine peptidase 2 isoform 1 preproprotein							44.0	49.0	47.0					2																	74757805		2203	4300	6503	SO:0001583	missense	27429				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding	g.chr2:74757805G>A		CCDS1951.1, CCDS1952.1	2p13.1	2011-07-21	2005-08-19	2005-08-19	ENSG00000115317	ENSG00000115317		"""Serine peptidases / Serine peptidases"", ""Parkinson disease"""	14348	protein-coding gene	gene with protein product		606441	"""protease, serine, 25"""	PRSS25		10644717, 10971580	Standard	XM_005264266		Approved	OMI, PARK13	uc002smi.1	O43464	OTTHUMG00000129957	ENST00000258080.3:c.568G>A	2.37:g.74757805G>A	ENSP00000258080:p.Asp190Asn					AUP1_uc002sme.2_5'Flank|AUP1_uc002smf.2_5'Flank|AUP1_uc002smg.2_5'Flank|AUP1_uc002smh.2_5'Flank|AUP1_uc010yrx.1_5'Flank|AUP1_uc010yry.1_5'Flank|HTRA2_uc002smj.1_Missense_Mutation_p.D190N|HTRA2_uc002smk.1_Missense_Mutation_p.D190N|HTRA2_uc002sml.1_Missense_Mutation_p.D190N|HTRA2_uc002smm.1_5'UTR|HTRA2_uc002smn.1_5'UTR|HTRA2_uc010ffl.2_5'UTR	p.D190N	NM_013247	NP_037379	O43464	HTRA2_HUMAN			2	1170	+			190			Serine protease.		Q9HBZ4|Q9P0Y3|Q9P0Y4	Missense_Mutation	SNP	ENST00000258080.3	37	c.568G>A	CCDS1951.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.651463	0.88056	.	.	ENSG00000115317	ENST00000258080;ENST00000352222;ENST00000437202	D;D;D	0.88586	-2.4;-2.4;-2.4	5.8	4.92	0.64577	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (2);	0.048372	0.85682	D	0.000000	D	0.92361	0.7576	M	0.62209	1.925	0.49213	D	0.999768	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.984;0.961;0.993;0.984	D	0.90939	0.4796	10	0.40728	T	0.16	-15.7761	11.8966	0.52659	0.0833:0.0:0.9167:0.0	.	190;190;190;190	A8K7G2;O43464-3;O43464-2;O43464	.;.;.;HTRA2_HUMAN	N	190;190;177	ENSP00000258080:D190N;ENSP00000312893:D190N;ENSP00000399166:D177N	ENSP00000258080:D190N	D	+	1	0	HTRA2	74611313	1.000000	0.71417	0.861000	0.33841	0.991000	0.79684	6.599000	0.74127	2.747000	0.94245	0.462000	0.41574	GAT		0.592	HTRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252219.2		NM_013247		22	50	0	0	0	0.012319	0	22	50		
LRRTM4	80059	broad.mit.edu	37	2	77745831	77745831	+	Silent	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:77745831G>T	ENST00000409093.1	-	3	1500	c.1164C>A	c.(1162-1164)acC>acA	p.T388T	LRRTM4_ENST00000409884.1_Silent_p.T388T|LRRTM4_ENST00000409911.1_Silent_p.T389T|LRRTM4_ENST00000409282.1_Silent_p.T389T|LRRTM4_ENST00000409088.3_Silent_p.T388T			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	388					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.T388T(4)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GTTTGAAGATGGTAGGTCTAG	0.473																																						uc002snr.2		NaN																	4	Substitution - coding silent(4)		lung(4)	pancreas(3)|ovary(1)	4						c.(1162-1164)ACC>ACA		leucine rich repeat transmembrane neuronal 4							152.0	145.0	147.0					2																	77745831		1882	4111	5993	SO:0001819	synonymous_variant	80059					integral to membrane		g.chr2:77745831G>T	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.1164C>A	2.37:g.77745831G>T						LRRTM4_uc002snq.2_Silent_p.T388T|LRRTM4_uc002sns.2_Silent_p.T388T|LRRTM4_uc002snt.2_Silent_p.T389T	p.T388T	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	1579	-			388			Extracellular (Potential).		Q4FZ98|Q6UXJ7	Silent	SNP	ENST00000409093.1	37	c.1164C>A	CCDS46346.1																																																																																				0.473	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1		NM_024993		14	44	1	0	6.72482e-11	0.003163	7.18314e-11	14	44		
CAPG	822	broad.mit.edu	37	2	85629268	85629268	+	Start_Codon_SNP	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:85629268T>C	ENST00000409921.1	-	2	67	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	CAPG_ENST00000263867.4_Start_Codon_SNP_p.M1V|CAPG_ENST00000409724.1_Start_Codon_SNP_p.M1V|CAPG_ENST00000483659.1_5'Flank|CAPG_ENST00000409670.1_Start_Codon_SNP_p.M1V			Q9BPX3	CND3_HUMAN	capping protein (actin filament), gelsolin-like	0					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)	11						GCTGTGTACATGCTGTCTTCA	0.522																																						uc002spl.1		NaN																	0					0						c.(1-3)ATG>GTG		gelsolin-like capping protein							60.0	53.0	55.0					2																	85629268		2203	4300	6503	SO:0001582	initiator_codon_variant	822				barbed-end actin filament capping|protein complex assembly	F-actin capping protein complex|melanosome|nuclear membrane|nucleolus	actin binding	g.chr2:85629268T>C	M94345	CCDS1974.1, CCDS58715.1	2p11.2	2008-06-04			ENSG00000042493	ENSG00000042493			1474	protein-coding gene	gene with protein product	"""macrophage capping protein"""	153615		AFCP		1322908, 12754261	Standard	NM_001747		Approved	MCP	uc010fgi.2	P40121	OTTHUMG00000130183	ENST00000409921.1:c.1A>G	2.37:g.85629268T>C	ENSP00000387063:p.Met1Val					CAPG_uc002spm.1_Missense_Mutation_p.M1V|CAPG_uc010ysq.1_Missense_Mutation_p.M1V|CAPG_uc010fgi.1_Missense_Mutation_p.M1V|CAPG_uc010fgj.1_5'Flank	p.M1V	NM_001747	NP_001738	P40121	CAPG_HUMAN			2	251	-			1					Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Missense_Mutation	SNP	ENST00000409921.1	37	c.1A>G	CCDS58715.1	.	.	.	.	.	.	.	.	.	.	T	13.21	2.168673	0.38315	.	.	ENSG00000042493	ENST00000542681;ENST00000263867;ENST00000409921;ENST00000409670;ENST00000409724;ENST00000439385;ENST00000449030;ENST00000447219;ENST00000409275	T;T;T;T;T;T;T;T	0.18960	2.49;2.49;2.49;2.49;2.18;2.18;2.18;2.19	5.02	5.02	0.67125	.	0.311691	0.26496	N	0.024053	T	0.18676	0.0448	.	.	.	0.80722	D	1	B;P	0.42409	0.062;0.779	B;B	0.37989	0.016;0.262	T	0.01961	-1.1239	9	0.56958	D	0.05	.	11.6867	0.51490	0.0:0.0:0.0:1.0	.	1;1	B8ZZS7;P40121	.;CAPG_HUMAN	V	1	ENSP00000263867:M1V;ENSP00000387063:M1V;ENSP00000386315:M1V;ENSP00000386965:M1V;ENSP00000391923:M1V;ENSP00000403330:M1V;ENSP00000398232:M1V;ENSP00000386596:M1V	ENSP00000263867:M1V	M	-	1	0	CAPG	85482779	1.000000	0.71417	0.997000	0.53966	0.720000	0.41350	2.634000	0.46528	2.189000	0.69895	0.459000	0.35465	ATG		0.522	CAPG-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329383.1		NM_001747	Missense_Mutation	6	6	0	0	0	0.004482	0	6	6		
SMYD1	150572	broad.mit.edu	37	2	88402598	88402598	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:88402598G>A	ENST00000419482.2	+	7	995	c.910G>A	c.(910-912)Gag>Aag	p.E304K	SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Missense_Mutation_p.E291K	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	304					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						AGTGGTGAAGGAGATGATACA	0.443																																						uc002ssr.2		NaN																	0				ovary(2)|lung(1)|skin(1)	4						c.(910-912)GAG>AAG		SET and MYND domain containing 1							100.0	96.0	97.0					2																	88402598		2203	4300	6503	SO:0001583	missense	150572				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr2:88402598G>A	AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.910G>A	2.37:g.88402598G>A	ENSP00000393453:p.Glu304Lys					SMYD1_uc002ssq.1_Intron|SMYD1_uc002sss.2_5'UTR	p.E304K	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN			7	912	+			304					A0AV30|A6NE13	Missense_Mutation	SNP	ENST00000419482.2	37	c.910G>A	CCDS33240.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.136403	0.56936	.	.	ENSG00000115593	ENST00000419482;ENST00000444564;ENST00000295833	T;T	0.25085	1.82;1.83	5.31	5.31	0.75309	.	0.113318	0.64402	D	0.000004	T	0.28001	0.0690	L	0.53249	1.67	0.80722	D	1	B	0.31413	0.322	B	0.29598	0.104	T	0.03157	-1.1066	10	0.34782	T	0.22	-15.8398	18.012	0.89226	0.0:0.0:1.0:0.0	.	304	Q8NB12	SMYD1_HUMAN	K	304;291;125	ENSP00000393453:E304K;ENSP00000407888:E291K	ENSP00000295833:E125K	E	+	1	0	SMYD1	88183713	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	6.214000	0.72200	2.497000	0.84241	0.551000	0.68910	GAG		0.443	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338229.2		XM_097915		25	49	0	0	0	0.005443	0	25	49		
TMEM182	130827	broad.mit.edu	37	2	103380863	103380863	+	Missense_Mutation	SNP	C	C	G	rs377199521		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:103380863C>G	ENST00000412401.2	+	3	513	c.308C>G	c.(307-309)tCg>tGg	p.S103W	TMEM182_ENST00000409528.1_Missense_Mutation_p.S7W|TMEM182_ENST00000409173.1_Missense_Mutation_p.S60W|TMEM182_ENST00000486293.1_3'UTR	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182	103						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						GAGCACAACTCGACCTCCTAT	0.483																																						uc010fjb.2		NaN																	0					0						c.(307-309)TCG>TGG		transmembrane protein 182 precursor							151.0	121.0	131.0					2																	103380863		2203	4300	6503	SO:0001583	missense	130827					integral to membrane		g.chr2:103380863C>G	AK054856	CCDS2064.1	2q12.1	2009-08-25			ENSG00000170417	ENSG00000170417			26391	protein-coding gene	gene with protein product						12477932	Standard	NM_144632		Approved	FLJ30294	uc010fjb.3	Q6ZP80	OTTHUMG00000130779	ENST00000412401.2:c.308C>G	2.37:g.103380863C>G	ENSP00000394178:p.Ser103Trp					TMEM182_uc002tcc.3_Missense_Mutation_p.S60W|TMEM182_uc002tcd.3_Missense_Mutation_p.S7W	p.S103W	NM_144632	NP_653233	Q6ZP80	TM182_HUMAN			3	495	+			103			Extracellular (Potential).		C9JML7|Q3B7B8|Q53TT9|Q6GMU0|Q8WW45|Q96NR4	Missense_Mutation	SNP	ENST00000412401.2	37	c.308C>G	CCDS2064.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.130646	0.77549	.	.	ENSG00000170417	ENST00000454536;ENST00000409528;ENST00000409173;ENST00000412401	T;T;T;T	0.69926	-0.18;-0.44;-0.18;-0.18	5.83	5.83	0.93111	.	0.275955	0.42682	D	0.000669	T	0.77955	0.4208	L	0.51422	1.61	0.80722	D	1	D;D	0.65815	0.988;0.995	P;P	0.62382	0.901;0.901	T	0.78314	-0.2252	10	0.72032	D	0.01	-17.9954	20.1208	0.97960	0.0:1.0:0.0:0.0	.	103;60	Q6ZP80;B8ZZ71	TM182_HUMAN;.	W	60;7;60;103	ENSP00000392106:S60W;ENSP00000387258:S7W;ENSP00000387184:S60W;ENSP00000394178:S103W	ENSP00000387184:S60W	S	+	2	0	TMEM182	102747295	0.998000	0.40836	0.285000	0.24819	0.971000	0.66376	5.669000	0.68081	2.758000	0.94735	0.655000	0.94253	TCG		0.483	TMEM182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253293.1		NM_144632		38	63	0	0	0	0.006999	0	38	63		
SOWAHC	65124	broad.mit.edu	37	2	110373335	110373335	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:110373335C>T	ENST00000356454.3	+	1	1425	c.1269C>T	c.(1267-1269)ctC>ctT	p.L423L	SEPT10_ENST00000397712.2_5'Flank|SEPT10_ENST00000334001.6_5'Flank|SEPT10_ENST00000415095.1_5'Flank|SEPT10_ENST00000545389.1_5'Flank|SEPT10_ENST00000356688.4_5'Flank|SEPT10_ENST00000437928.1_5'Flank|SEPT10_ENST00000397714.2_5'Flank	NM_023016.3	NP_075392.2	Q53LP3	SWAHC_HUMAN	sosondowah ankyrin repeat domain family member C	423																	CCTCGCATCTCATCACCTACA	0.627																																						uc002tfb.2		NaN																	0					0						c.(1267-1269)CTC>CTT		ankyrin repeat domain 57							38.0	44.0	42.0					2																	110373335		2203	4300	6503	SO:0001819	synonymous_variant	65124							g.chr2:110373335C>T	AK023346	CCDS33270.1	2q13	2013-01-10	2012-01-12	2012-01-12	ENSG00000198142	ENSG00000198142		"""Ankyrin repeat domain containing"""	26149	protein-coding gene	gene with protein product			"""ankyrin repeat domain 57"""	C2orf26, ANKRD57		22234889	Standard	NM_023016		Approved	FLJ21870	uc002tfb.3	Q53LP3	OTTHUMG00000153219	ENST00000356454.3:c.1269C>T	2.37:g.110373335C>T						SEPT10_uc010ywu.1_5'Flank|SEPT10_uc002tew.2_5'Flank|SEPT10_uc002tex.2_5'Flank|SEPT10_uc002tey.2_5'Flank|SEPT10_uc010ywv.1_5'Flank	p.L423L	NM_023016	NP_075392	Q53LP3	ANR57_HUMAN			1	1425	+			423					Q8NE15|Q9H6U1	Silent	SNP	ENST00000356454.3	37	c.1269C>T	CCDS33270.1																																																																																				0.627	SOWAHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330168.1		NM_023016		23	38	0	0	0	0.003954	0	23	38		
IL1A	3552	broad.mit.edu	37	2	113532667	113532667	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:113532667G>A	ENST00000263339.3	-	7	948	c.793C>T	c.(793-795)Cag>Tag	p.Q265*		NM_000575.3	NP_000566.3	P01583	IL1A_HUMAN	interleukin 1, alpha	265					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|cytokine-mediated signaling pathway (GO:0019221)|ectopic germ cell programmed cell death (GO:0035234)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fever generation (GO:0001660)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell division (GO:0051781)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation vascular endothelial growth factor production (GO:0010575)|response to copper ion (GO:0046688)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	copper ion binding (GO:0005507)|cytokine activity (GO:0005125)			breast(2)|large_intestine(1)|lung(9)	12					Rilonacept(DB06372)	TCCAGTATCTGAAAGTCAGTG	0.458																																						uc002tig.2		NaN																	0				lung(1)	1						c.(793-795)CAG>TAG		interleukin 1, alpha proprotein							102.0	95.0	98.0					2																	113532667		2203	4300	6503	SO:0001587	stop_gained	3552				anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding	g.chr2:113532667G>A	M28983	CCDS2101.1	2q14	2014-01-30			ENSG00000115008	ENSG00000115008		"""Interleukins and interleukin receptors"", ""Endogenous ligands"""	5991	protein-coding gene	gene with protein product	"""preinterleukin 1 alpha"", ""hematopoietin-1"", ""pro-interleukin-1-alpha"""	147760		IL1		8188271, 2989698	Standard	NM_000575		Approved	IL1F1, IL-1A, IL1-ALPHA	uc002tig.3	P01583	OTTHUMG00000131315	ENST00000263339.3:c.793C>T	2.37:g.113532667G>A	ENSP00000263339:p.Gln265*						p.Q265*	NM_000575	NP_000566	P01583	IL1A_HUMAN			7	1753	-			265					Q53QF9|Q7RU02	Nonsense_Mutation	SNP	ENST00000263339.3	37	c.793C>T	CCDS2101.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.934343	0.73442	.	.	ENSG00000115008	ENST00000263339	.	.	.	5.25	-1.39	0.08997	.	1.759490	0.02724	N	0.114353	.	.	.	.	.	.	0.31887	N	0.617658	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	-36.1892	4.3216	0.11020	0.0774:0.1238:0.3143:0.4846	.	.	.	.	X	265	.	ENSP00000263339:Q265X	Q	-	1	0	IL1A	113249138	0.165000	0.22948	0.000000	0.03702	0.346000	0.29079	0.679000	0.25291	-0.351000	0.08249	0.655000	0.94253	CAG		0.458	IL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254084.1		NM_000575		18	42	0	0	0	0.007413	0	18	42		
BIN1	274	broad.mit.edu	37	2	127834283	127834283	+	Splice_Site	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:127834283C>T	ENST00000316724.5	-	2	496		c.e2-1		BIN1_ENST00000352848.3_Splice_Site|BIN1_ENST00000351659.3_Splice_Site|BIN1_ENST00000376113.2_Splice_Site|BIN1_ENST00000357970.3_Splice_Site|BIN1_ENST00000393040.3_Splice_Site|BIN1_ENST00000348750.4_Splice_Site|BIN1_ENST00000393041.3_Splice_Site|BIN1_ENST00000346226.3_Splice_Site|BIN1_ENST00000409400.1_Splice_Site|BIN1_ENST00000259238.4_Splice_Site	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1						cell proliferation (GO:0008283)|endocytosis (GO:0006897)|lipid tube assembly (GO:0060988)|muscle cell differentiation (GO:0042692)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of endocytosis (GO:0045807)|positive regulation of GTPase activity (GO:0043547)|regulation of cell cycle arrest (GO:0071156)|regulation of neuron differentiation (GO:0045664)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|axon initial segment (GO:0043194)|axon terminus (GO:0043679)|cerebellar mossy fiber (GO:0044300)|cytoplasm (GO:0005737)|I band (GO:0031674)|lipid tube (GO:0060987)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)|T-tubule (GO:0030315)|varicosity (GO:0043196)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|tau protein binding (GO:0048156)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TCTGGAGAACCTGCCGAAGCC	0.547																																						uc002tns.1		NaN																	0				ovary(2)|central_nervous_system(2)|skin(2)|lung(1)	7						c.e2-1		bridging integrator 1 isoform 1							176.0	153.0	160.0					2																	127834283		2203	4300	6503	SO:0001630	splice_region_variant	274				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus		g.chr2:127834283C>T	U68485	CCDS2137.1, CCDS2138.1, CCDS2139.1, CCDS2140.1, CCDS2141.1, CCDS2142.1, CCDS2143.1, CCDS42743.1, CCDS42744.1, CCDS46403.1	2q14	2014-09-17			ENSG00000136717	ENSG00000136717			1052	protein-coding gene	gene with protein product	"""amphiphysin II"""	601248		AMPHL		8725406, 8782822, 17676042	Standard	NM_004305		Approved	SH3P9, AMPH2	uc002tns.2	O00499	OTTHUMG00000131465	ENST00000316724.5:c.85-1G>A	2.37:g.127834283C>T						BIN1_uc010yzf.1_Splice_Site_p.V5_splice|BIN1_uc010yzg.1_Splice_Site_p.V29_splice|BIN1_uc002tnu.1_Splice_Site_p.V29_splice|BIN1_uc002toa.1_Splice_Site_p.V29_splice|BIN1_uc002tnt.1_Splice_Site_p.V29_splice|BIN1_uc002tnv.1_Splice_Site_p.V29_splice|BIN1_uc002tnw.1_Splice_Site_p.V29_splice|BIN1_uc002tnx.1_Splice_Site_p.V29_splice|BIN1_uc002tny.1_Splice_Site_p.V29_splice|BIN1_uc002tnz.1_Splice_Site_p.V29_splice|BIN1_uc002tob.1_Splice_Site_p.V29_splice|BIN1_uc002toc.1_Splice_Site_p.V29_splice	p.V29_splice	NM_139343	NP_647593	O00499	BIN1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.073)	2	430	-	Colorectal(110;0.0831)							O00297|O00545|O43867|O60552|O60553|O60554|O60555|O75514|O75515|O75516|O75517|O75518|Q659B7|Q92944|Q99688	Splice_Site	SNP	ENST00000316724.5	37	c.85_splice	CCDS2138.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.826801	0.71143	.	.	ENSG00000136717	ENST00000376113;ENST00000357970;ENST00000393040;ENST00000348750;ENST00000259238;ENST00000346226;ENST00000393041;ENST00000351659;ENST00000352848;ENST00000316724;ENST00000409400	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0321	0.86464	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BIN1	127550753	1.000000	0.71417	0.999000	0.59377	0.716000	0.41182	7.207000	0.77899	2.541000	0.85698	0.655000	0.94253	.		0.547	BIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254298.2		NM_139343	Intron	51	79	0	0	0	0.01441	0	51	79		
MAP3K2	10746	broad.mit.edu	37	2	128093472	128093472	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:128093472T>C	ENST00000409947.1	-	5	520	c.238A>G	c.(238-240)Atg>Gtg	p.M80V	MAP3K2_ENST00000344908.5_Missense_Mutation_p.M80V			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	80	OPR.				activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)	Bosutinib(DB06616)	TGTAGATCCATAGACTGTCCA	0.323																																						uc002toj.1		NaN																	0				lung(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	7						c.(238-240)ATG>GTG		mitogen-activated protein kinase kinase kinase							94.0	88.0	90.0					2																	128093472		1824	4065	5889	SO:0001583	missense	10746				activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding	g.chr2:128093472T>C	AF111105	CCDS46404.1	2q21.1	2011-06-09			ENSG00000169967	ENSG00000169967		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6854	protein-coding gene	gene with protein product	"""MAP/ERK kinase kinase 2"""	609487		MEKK2		8621389, 10085062	Standard	NM_006609		Approved	MEKK2B	uc002toj.2	Q9Y2U5	OTTHUMG00000153397	ENST00000409947.1:c.238A>G	2.37:g.128093472T>C	ENSP00000387246:p.Met80Val					MAP3K2_uc010flz.1_Missense_Mutation_p.M80V	p.M80V	NM_006609	NP_006600	Q9Y2U5	M3K2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0706)	4	303	-	Colorectal(110;0.1)		80			OPR.		B9EG87|Q53QL9|Q53S75|Q59GZ6|Q8NC32|Q9NYK3	Missense_Mutation	SNP	ENST00000409947.1	37	c.238A>G	CCDS46404.1	.	.	.	.	.	.	.	.	.	.	T	15.98	2.991606	0.54041	.	.	ENSG00000169967	ENST00000409947;ENST00000344908	T;T	0.16897	2.31;2.31	5.46	5.46	0.80206	Phox/Bem1p (2);	0.000000	0.85682	D	0.000000	T	0.20373	0.0490	L	0.44542	1.39	0.80722	D	1	B	0.16166	0.016	B	0.28305	0.088	T	0.02632	-1.1131	10	0.72032	D	0.01	.	15.8458	0.78887	0.0:0.0:0.0:1.0	.	80	Q9Y2U5	M3K2_HUMAN	V	80	ENSP00000387246:M80V;ENSP00000343463:M80V	ENSP00000343463:M80V	M	-	1	0	MAP3K2	127809942	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.641000	0.54360	2.186000	0.69663	0.533000	0.62120	ATG		0.323	MAP3K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331014.1		NM_006609		3	4	0	0	0	0.009096	0	3	4		
NCKAP5	344148	broad.mit.edu	37	2	133486457	133486457	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:133486457C>G	ENST00000409261.1	-	18	5885	c.5512G>C	c.(5512-5514)Gct>Cct	p.A1838P	NCKAP5_ENST00000317721.6_Missense_Mutation_p.A1838P|NCKAP5_ENST00000409213.1_Missense_Mutation_p.A519P|NCKAP5_ENST00000405974.3_Missense_Mutation_p.A519P	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1838										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GGGTCTTCAGCATATCCGAAT	0.537																																						uc002ttp.2		NaN																	0					0						c.(5512-5514)GCT>CCT		Nck-associated protein 5 isoform 1							192.0	198.0	196.0					2																	133486457		2004	4161	6165	SO:0001583	missense	344148						protein binding	g.chr2:133486457C>G	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.5512G>C	2.37:g.133486457C>G	ENSP00000387128:p.Ala1838Pro					NCKAP5_uc002ttq.2_Missense_Mutation_p.A519P	p.A1838P	NM_207363	NP_997246	O14513	NCKP5_HUMAN			18	5886	-			1838					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.5512G>C	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.571069	0.65765	.	.	ENSG00000176771	ENST00000409261;ENST00000409213;ENST00000317721;ENST00000405974;ENST00000537661	T;T;T;T	0.51574	2.72;0.7;2.72;0.7	4.7	2.9	0.33743	.	0.248336	0.20178	U	0.097596	T	0.30324	0.0761	L	0.27053	0.805	0.09310	N	1	B;B	0.23249	0.006;0.082	B;B	0.25140	0.01;0.058	T	0.15178	-1.0446	10	0.42905	T	0.14	.	4.4386	0.11562	0.0:0.6127:0.1891:0.1982	.	519;1838	O14513-2;O14513	.;NCKP5_HUMAN	P	1838;519;1838;519;519	ENSP00000387128:A1838P;ENSP00000386952:A519P;ENSP00000380603:A1838P;ENSP00000385692:A519P	ENSP00000380603:A1838P	A	-	1	0	NCKAP5	133202927	0.044000	0.20184	0.323000	0.25347	0.233000	0.25261	-0.002000	0.12924	0.904000	0.36572	0.591000	0.81541	GCT		0.537	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1		NM_207481		43	205	0	0	0	0.009718	0	43	205		
RAB3GAP1	22930	broad.mit.edu	37	2	135922246	135922246	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:135922246C>T	ENST00000264158.8	+	23	2732	c.2689C>T	c.(2689-2691)Ctg>Ttg	p.L897L	ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000539493.1_Silent_p.L853L|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000442034.1_Silent_p.L897L	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	897					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		CATTCACAAGCTGTTTGTGAA	0.493																																						uc002tuj.2		NaN																	0				ovary(1)|skin(1)	2						c.(2689-2691)CTG>TTG		RAB3 GTPase-activating protein							108.0	91.0	96.0					2																	135922246		2203	4300	6503	SO:0001819	synonymous_variant	22930					centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding	g.chr2:135922246C>T	D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.2689C>T	2.37:g.135922246C>T						RAB3GAP1_uc010fnf.2_Silent_p.L897L|RAB3GAP1_uc010fng.2_Silent_p.L722L|RAB3GAP1_uc010fnh.1_RNA	p.L897L	NM_012233	NP_036365	Q15042	RB3GP_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	23	2714	+			897					A6H8Z3|C9J837|Q659F5|Q8TBB4	Silent	SNP	ENST00000264158.8	37	c.2689C>T	CCDS33294.1																																																																																				0.493	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2		NM_012233		11	27	0	0	0	0.010729	0	11	27		
ZRANB3	84083	broad.mit.edu	37	2	135960517	135960517	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:135960517C>T	ENST00000264159.6	-	20	3142	c.3026G>A	c.(3025-3027)aGa>aAa	p.R1009K	ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000401392.1_Missense_Mutation_p.R1007K|ZRANB3_ENST00000536680.1_Missense_Mutation_p.R1007K	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	1009					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		CCCTGGGTTTCTTATCATTTC	0.433																																						uc002tum.2		NaN																	0				lung(2)	2						c.(3025-3027)AGA>AAA		zinc finger, RAN-binding domain containing 3							56.0	56.0	56.0					2																	135960517		1881	4108	5989	SO:0001583	missense	84083					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding	g.chr2:135960517C>T	AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"""Zinc fingers, RAN-binding domain containing"""	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.3026G>A	2.37:g.135960517C>T	ENSP00000264159:p.Arg1009Lys					ZRANB3_uc002tuk.2_Missense_Mutation_p.R552K|ZRANB3_uc002tul.2_Missense_Mutation_p.R1007K	p.R1009K	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.135)	20	3143	-			1009					B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Missense_Mutation	SNP	ENST00000264159.6	37	c.3026G>A	CCDS46419.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.612648	0.46631	.	.	ENSG00000121988	ENST00000538542;ENST00000283060;ENST00000401392;ENST00000264159;ENST00000536680	D;D;D	0.91124	-2.79;-2.79;-2.78	5.47	2.53	0.30540	HNH nuclease (1);	0.179594	0.47093	N	0.000244	D	0.84120	0.5402	L	0.45137	1.4	0.28907	N	0.892956	B;B	0.19200	0.034;0.027	B;B	0.24848	0.056;0.033	T	0.75616	-0.3256	10	0.46703	T	0.11	-14.8936	4.5492	0.12103	0.2009:0.5613:0.1033:0.1345	.	1009;1007	Q5FWF4;Q5FWF4-3	ZRAB3_HUMAN;.	K	472;472;1007;1009;1007	ENSP00000383979:R1007K;ENSP00000264159:R1009K;ENSP00000441320:R1007K	ENSP00000264159:R1009K	R	-	2	0	ZRANB3	135676987	0.981000	0.34729	1.000000	0.80357	0.997000	0.91878	1.342000	0.33919	1.289000	0.44618	0.563000	0.77884	AGA		0.433	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318254.1		NM_032143		8	22	0	0	0	0.00308	0	8	22		
SPOPL	339745	broad.mit.edu	37	2	139308578	139308578	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:139308578C>T	ENST00000280098.4	+	4	685	c.306C>T	c.(304-306)ttC>ttT	p.F102F		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	102	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		GAGCAAAATTCAAATTTTCCC	0.353																																						uc002tvh.2		NaN																	0				skin(2)|breast(1)	3						c.(304-306)TTC>TTT		speckle-type POZ protein-like							67.0	71.0	70.0					2																	139308578		2203	4299	6502	SO:0001819	synonymous_variant	339745					nucleus		g.chr2:139308578C>T		CCDS33298.1	2q22.1	2013-01-09			ENSG00000144228	ENSG00000144228		"""BTB/POZ domain containing"""	27934	protein-coding gene	gene with protein product	"""HIB homolog 2"", ""roadkill homolog 2"""						Standard	NM_001001664		Approved	BTBD33	uc002tvh.3	Q6IQ16	OTTHUMG00000153635	ENST00000280098.4:c.306C>T	2.37:g.139308578C>T							p.F102F	NM_001001664	NP_001001664	Q6IQ16	SPOPL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0296)	4	706	+			102			MATH.			Silent	SNP	ENST00000280098.4	37	c.306C>T	CCDS33298.1																																																																																				0.353	SPOPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331897.1				24	56	0	0	0	0.004656	0	24	56		
GALNT5	11227	broad.mit.edu	37	2	158165086	158165086	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:158165086A>C	ENST00000259056.4	+	9	3013	c.2528A>C	c.(2527-2529)cAa>cCa	p.Q843P		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	843	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						CAGCTTCAACAATTTAATTAC	0.418																																						uc002tzg.2		NaN																	0				breast(3)|skin(1)	4						c.(2527-2529)CAA>CCA		N-acetylgalactosaminyltransferase 5							200.0	225.0	216.0					2																	158165086		2203	4300	6503	SO:0001583	missense	11227				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:158165086A>C	AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4127	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 5"""	615129	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"""			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.2528A>C	2.37:g.158165086A>C	ENSP00000259056:p.Gln843Pro					GALNT5_uc010zci.1_RNA	p.Q843P	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN			9	2783	+			843			Lumenal (Potential).|Ricin B-type lectin.		A5PKZ1|Q9UGK7|Q9UHL6	Missense_Mutation	SNP	ENST00000259056.4	37	c.2528A>C	CCDS2203.1	.	.	.	.	.	.	.	.	.	.	A	18.57	3.653495	0.67472	.	.	ENSG00000136542	ENST00000259056	T	0.27890	1.64	5.68	5.68	0.88126	Ricin B-related lectin (1);Ricin B lectin (3);	0.202238	0.35772	N	0.002995	T	0.37489	0.1005	L	0.57536	1.79	0.41906	D	0.990449	P	0.51933	0.949	P	0.46208	0.507	T	0.15867	-1.0422	10	0.37606	T	0.19	.	15.5792	0.76418	1.0:0.0:0.0:0.0	.	843	Q7Z7M9	GALT5_HUMAN	P	843	ENSP00000259056:Q843P	ENSP00000259056:Q843P	Q	+	2	0	GALNT5	157873332	0.998000	0.40836	1.000000	0.80357	0.968000	0.65278	3.842000	0.55858	2.162000	0.67917	0.459000	0.35465	CAA		0.418	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2		NM_014568		117	248	0	0	0	0.01441	0	117	248		
BAZ2B	29994	broad.mit.edu	37	2	160257124	160257124	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:160257124G>A	ENST00000392783.2	-	17	3379	c.2884C>T	c.(2884-2886)Cag>Tag	p.Q962*	AC008277.1_ENST00000608714.1_RNA|AC008277.1_ENST00000594921.1_RNA|AC008277.1_ENST00000420020.1_RNA|BAZ2B_ENST00000343439.5_Nonsense_Mutation_p.Q862*|BAZ2B_ENST00000355831.2_Nonsense_Mutation_p.Q928*|BAZ2B_ENST00000392782.1_Nonsense_Mutation_p.Q926*	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	962	Lys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						AGAATTTGCTGAGCTCGAAGT	0.264																																						uc002uao.2		NaN																	0				ovary(3)|skin(1)	4						c.(2884-2886)CAG>TAG		bromodomain adjacent to zinc finger domain, 2B							51.0	45.0	47.0					2																	160257124		1779	4054	5833	SO:0001587	stop_gained	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160257124G>A	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.2884C>T	2.37:g.160257124G>A	ENSP00000376534:p.Gln962*					BAZ2B_uc002uap.2_Nonsense_Mutation_p.Q926*|BAZ2B_uc002uaq.1_Nonsense_Mutation_p.Q792*	p.Q962*	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN			17	3236	-			962			Lys-rich.|Potential.		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Nonsense_Mutation	SNP	ENST00000392783.2	37	c.2884C>T	CCDS2209.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.3|25.3	4.628177|4.628177	0.87560|0.87560	.|.	.|.	ENSG00000123636|ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439|ENST00000294905	.|.	.|.	.|.	5.33|5.33	5.33|5.33	0.75918|0.75918	.|.	0.000000|.	0.35151|.	U|.	0.003413|.	.|T	.|0.75895	.|0.3912	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74973	.|-0.3481	.|3	0.39692|.	T|.	0.17|.	-7.2487|-7.2487	18.9988|18.9988	0.92824|0.92824	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	926;962;928;862|13	.|.	ENSP00000339670:Q862X|.	Q|S	-|-	1|2	0|0	BAZ2B|BAZ2B	159965370|159965370	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.996000|0.996000	0.88848|0.88848	9.354000|9.354000	0.97083|0.97083	2.465000|2.465000	0.83290|0.83290	0.585000|0.585000	0.79938|0.79938	CAG|TCA		0.264	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2				7	15	0	0	0	0.001984	0	7	15		
COBLL1	22837	broad.mit.edu	37	2	165586561	165586561	+	Missense_Mutation	SNP	T	T	C	rs146685683		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:165586561T>C	ENST00000392717.2	-	4	413	c.409A>G	c.(409-411)Aca>Gca	p.T137A	COBLL1_ENST00000491126.2_Intron|COBLL1_ENST00000194871.6_Missense_Mutation_p.T152A|COBLL1_ENST00000342193.4_Missense_Mutation_p.T99A|COBLL1_ENST00000409184.3_Missense_Mutation_p.T137A|COBLL1_ENST00000375458.2_Missense_Mutation_p.T99A			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	137						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						AGATCGATTGTGTAACTTGAT	0.343																																						uc010zcw.1		NaN																	0				ovary(2)|pancreas(1)	3						c.(454-456)ACA>GCA		COBL-like 1		T	ALA/THR	0,4406		0,0,2203	145.0	132.0	136.0		295	5.7	1.0	2	dbSNP_134	136	2,8598	2.2+/-6.3	0,2,4298	no	missense	COBLL1	NM_014900.3	58	0,2,6501	CC,CT,TT		0.0233,0.0,0.0154	probably-damaging	99/1167	165586561	2,13004	2203	4300	6503	SO:0001583	missense	22837							g.chr2:165586561T>C	AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.409A>G	2.37:g.165586561T>C	ENSP00000376478:p.Thr137Ala					COBLL1_uc002ucp.2_Missense_Mutation_p.T99A|COBLL1_uc002ucq.2_Missense_Mutation_p.T99A|COBLL1_uc010zcx.1_Missense_Mutation_p.T145A|COBLL1_uc002ucs.1_RNA	p.T152A	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN			5	578	-			137					A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	ENST00000392717.2	37	c.454A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.2|23.2	4.383805|4.383805	0.82792|0.82792	0.0|0.0	2.33E-4|2.33E-4	ENSG00000082438|ENSG00000082438	ENST00000452626|ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871;ENST00000456693;ENST00000448708;ENST00000439313;ENST00000444537;ENST00000414843	.|D;D;D;D;D;D;D;D;D;D	.|0.91740	.|-2.9;-2.9;-2.9;-2.9;-2.9;-2.9;-2.9;-2.9;-2.9;-2.9	5.69|5.69	5.69|5.69	0.88448|0.88448	.|Cordon-bleu domain (1);	.|0.044665	.|0.85682	.|D	.|0.000000	D|D	0.94278|0.94278	0.8162|0.8162	L|L	0.48642|0.48642	1.525|1.525	0.48452|0.48452	D|D	0.99965|0.99965	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.999;0.999	D|D	0.93568|0.93568	0.6901|0.6901	5|10	.|0.36615	.|T	.|0.2	-20.504|-20.504	15.943|15.943	0.79771|0.79771	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|137;152;137	.|Q53SF7;B7Z2P5;Q53SF7-2	.|COBL1_HUMAN;.;.	R|A	101|99;99;137;137;152;74;99;106;121;99	.|ENSP00000364607:T99A;ENSP00000341360:T99A;ENSP00000387326:T137A;ENSP00000376478:T137A;ENSP00000194871:T152A;ENSP00000397520:T74A;ENSP00000406062:T99A;ENSP00000397835:T106A;ENSP00000409237:T121A;ENSP00000387967:T99A	.|ENSP00000194871:T152A	H|T	-|-	2|1	0|0	COBLL1|COBLL1	165294807|165294807	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	4.951000|4.951000	0.63610|0.63610	2.171000|2.171000	0.68590|0.68590	0.528000|0.528000	0.53228|0.53228	CAC|ACA		0.343	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_014900		20	40	0	0	0	0.010504	0	20	40		
CSRNP3	80034	broad.mit.edu	37	2	166535631	166535631	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:166535631G>C	ENST00000342316.4	+	5	1398	c.1126G>C	c.(1126-1128)Gaa>Caa	p.E376Q	CSRNP3_ENST00000314499.7_Missense_Mutation_p.E376Q|CSRNP3_ENST00000409420.1_Missense_Mutation_p.E408Q	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	376	Glu-rich.				apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						ggaggaggaagaagaagagga	0.537																																						uc002udf.2		NaN																	0				ovary(3)|large_intestine(1)|skin(1)	5						c.(1126-1128)GAA>CAA		cysteine-serine-rich nuclear protein 3							100.0	92.0	94.0					2																	166535631		2203	4300	6503	SO:0001583	missense	80034				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:166535631G>C	AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30729	protein-coding gene	gene with protein product	"""TGF beta induced apotosis protein 2"", ""protein phosphatase 1, regulatory subunit 73"""		"""family with sequence similarity 130, member A2"""	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.1126G>C	2.37:g.166535631G>C	ENSP00000344042:p.Glu376Gln					CSRNP3_uc002udg.2_Missense_Mutation_p.E376Q	p.E376Q	NM_024969	NP_079245	Q8WYN3	CSRN3_HUMAN			7	1502	+			376			Glu-rich.		B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Missense_Mutation	SNP	ENST00000342316.4	37	c.1126G>C	CCDS2225.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.764845	0.31228	.	.	ENSG00000178662	ENST00000421875;ENST00000431452;ENST00000314499;ENST00000342316;ENST00000409420	T	0.07114	3.22	4.98	4.98	0.66077	.	0.349620	0.21654	N	0.071129	T	0.07728	0.0194	L	0.29908	0.895	0.44500	D	0.997449	B	0.34290	0.447	B	0.31812	0.136	T	0.38351	-0.9665	10	0.33141	T	0.24	-7.1128	15.3457	0.74334	0.0:0.0:1.0:0.0	.	376	Q8WYN3	CSRN3_HUMAN	Q	376;383;376;376;408	ENSP00000412081:E376Q	ENSP00000318258:E376Q	E	+	1	0	CSRNP3	166243877	1.000000	0.71417	0.042000	0.18584	0.017000	0.09413	8.830000	0.92063	2.443000	0.82685	0.655000	0.94253	GAA		0.537	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255191.2		NM_024969		17	38	0	0	0	0.004007	0	17	38		
SCN1A	6323	broad.mit.edu	37	2	166900510	166900510	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:166900510C>T	ENST00000303395.4	-	11	1711	c.1712G>A	c.(1711-1713)aGa>aAa	p.R571K	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.R571K|SCN1A_ENST00000409050.1_Missense_Mutation_p.R571K|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.R571K			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	571					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.R571I(2)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AAGGCTTGTTCTGCTATTTCG	0.438																																						uc010zcz.1		NaN																	2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(6)|large_intestine(1)	13						c.(1711-1713)AGA>AAA		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						80.0	79.0	80.0					2																	166900510		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166900510C>T	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.1712G>A	2.37:g.166900510C>T	ENSP00000303540:p.Arg571Lys					SCN1A_uc002udo.3_Missense_Mutation_p.R440K|SCN1A_uc010fpk.2_Missense_Mutation_p.R440K	p.R571K	NM_006920	NP_008851	P35498	SCN1A_HUMAN			11	1730	-			571					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.1712G>A	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.658880	0.29515	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.91124	-2.79;-2.79;-2.79;-2.79	5.59	5.59	0.84812	Domain of unknown function DUF3451 (1);	0.000000	0.85682	D	0.000000	D	0.85296	0.5664	N	0.25201	0.72	0.41307	D	0.987088	B;B;B	0.16802	0.004;0.019;0.001	B;B;B	0.15052	0.007;0.012;0.002	T	0.79470	-0.1790	10	0.25751	T	0.34	.	19.5889	0.95499	0.0:1.0:0.0:0.0	.	571;571;571	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	K	571	ENSP00000407030:R571K;ENSP00000303540:R571K;ENSP00000364554:R571K;ENSP00000386312:R571K	ENSP00000303540:R571K	R	-	2	0	SCN1A	166608756	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.562000	0.45914	2.620000	0.88729	0.561000	0.74099	AGA		0.438	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1		NM_006920		25	50	0	0	0	0.004656	0	25	50		
B3GALT1	8708	broad.mit.edu	37	2	168725897	168725897	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:168725897C>T	ENST00000392690.3	+	1	440	c.348C>T	c.(346-348)ttC>ttT	p.F116F	AC016723.4_ENST00000430546.1_RNA|AC016723.4_ENST00000436982.2_RNA|B3GALT1_ENST00000305861.1_Silent_p.F116F			Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1	116					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						CCACCCTGTTCCTCCTGGGCA	0.488																																						uc002udz.1		NaN																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(346-348)TTC>TTT		UDP-Gal:betaGlcNAc beta							73.0	67.0	69.0					2																	168725897		2203	4300	6503	SO:0001819	synonymous_variant	8708				lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr2:168725897C>T	E07739	CCDS2227.1	2q24.3	2013-02-19			ENSG00000172318	ENSG00000172318		"""Beta 3-glycosyltransferases"""	916	protein-coding gene	gene with protein product		603093				9582303	Standard	NM_020981		Approved	beta3Gal-T1	uc002udz.1	Q9Y5Z6	OTTHUMG00000132163	ENST00000392690.3:c.348C>T	2.37:g.168725897C>T							p.F116F	NM_020981	NP_066191	Q9Y5Z6	B3GT1_HUMAN			2	699	+			116			Lumenal (Potential).		D3DPB8|Q53SS2	Silent	SNP	ENST00000392690.3	37	c.348C>T	CCDS2227.1																																																																																				0.488	B3GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255211.2		NM_020981		18	33	0	0	0	0.008871	0	18	33		
LRP2	4036	broad.mit.edu	37	2	170175331	170175331	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:170175331G>C	ENST00000263816.3	-	3	536	c.251C>G	c.(250-252)tCc>tGc	p.S84C	LRP2_ENST00000443831.1_Missense_Mutation_p.S84C	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	84	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	ACACACCCAGGAGTTGGGGAT	0.468																																						uc002ues.2		NaN																	0				ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(250-252)TCC>TGC		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						146.0	124.0	132.0					2																	170175331		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170175331G>C		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.251C>G	2.37:g.170175331G>C	ENSP00000263816:p.Ser84Cys					LRP2_uc010zdf.1_Missense_Mutation_p.S84C	p.S84C	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	3	464	-			84			LDL-receptor class A 2.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.251C>G	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.541210	0.45280	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.96136	-3.92;-3.92	6.02	-6.33	0.01988	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.926579	0.09384	N	0.809496	D	0.97018	0.9026	H	0.95151	3.63	0.09310	N	1	D;D	0.71674	0.996;0.998	D;P	0.65443	0.935;0.907	D	0.90501	0.4474	9	.	.	.	.	0.8205	0.01111	0.2091:0.1718:0.2673:0.3518	.	84;84	E9PC35;P98164	.;LRP2_HUMAN	C	84	ENSP00000263816:S84C;ENSP00000409813:S84C	.	S	-	2	0	LRP2	169883577	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-0.082000	0.11304	-1.427000	0.01992	-0.181000	0.13052	TCC		0.468	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2		NM_004525		7	71	0	0	0	0.004482	0	7	71		
RBM45	129831	broad.mit.edu	37	2	178977522	178977522	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:178977522G>A	ENST00000286070.5	+	1	341	c.249G>A	c.(247-249)atG>atA	p.M83I		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	83	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			GCAGGGCCATGGAGGAGATGC	0.647																																						uc002ulv.2		NaN																	0					0						c.(247-249)ATG>ATA		RNA binding motif protein 45							51.0	51.0	51.0					2																	178977522		2203	4300	6503	SO:0001583	missense	129831				cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr2:178977522G>A	AF526533	CCDS33335.1	2q31.2	2013-02-12			ENSG00000155636	ENSG00000155636		"""RNA binding motif (RRM) containing"""	24468	protein-coding gene	gene with protein product	"""developmentally regulated RNA binding protein 1"""	608888				12220514	Standard	XM_005246287		Approved	DRB1, FLJ44612	uc002ulv.3	Q8IUH3	OTTHUMG00000154202	ENST00000286070.5:c.249G>A	2.37:g.178977522G>A	ENSP00000286070:p.Met83Ile						p.M83I	NM_152945	NP_694453	Q8IUH3	RBM45_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)		1	341	+			83			RRM 1.		Q6NYL0|Q8NFC9	Missense_Mutation	SNP	ENST00000286070.5	37	c.249G>A	CCDS33335.1	.	.	.	.	.	.	.	.	.	.	G	19.26	3.792649	0.70452	.	.	ENSG00000155636	ENST00000286070	T	0.12672	2.66	4.73	4.73	0.59995	.	0.085474	0.85682	D	0.000000	T	0.05181	0.0138	N	0.00793	-1.18	0.80722	D	1	B	0.29085	0.232	B	0.28709	0.093	T	0.48790	-0.9004	10	0.23891	T	0.37	-7.1175	17.0747	0.86583	0.0:0.0:1.0:0.0	.	83	Q8IUH3-3	.	I	83	ENSP00000286070:M83I	ENSP00000286070:M83I	M	+	3	0	RBM45	178685768	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.167000	0.77562	2.335000	0.79485	0.563000	0.77884	ATG		0.647	RBM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334375.2		NM_152945		25	58	0	0	0	0.00632	0	25	58		
TTN	7273	broad.mit.edu	37	2	179422796	179422796	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:179422796A>G	ENST00000591111.1	-	278	82586	c.82362T>C	c.(82360-82362)atT>atC	p.I27454I	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.I20222I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Silent_p.I29095I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.I26527I|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.I20155I|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Silent_p.I20030I			Q8WZ42	TITIN_HUMAN	titin	27454					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTCAGCAGTAATTTCGGTAT	0.428																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(79579-79581)ATT>ATC		titin isoform N2-A							110.0	105.0	107.0					2																	179422796		1886	4116	6002	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179422796A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.82362T>C	2.37:g.179422796A>G						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.I20222I|TTN_uc010zfi.1_Silent_p.I20155I|TTN_uc010zfj.1_Silent_p.I20030I	p.I26527I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		277	79805	-			27454					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.79581T>C																																																																																					0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		37	80	0	0	0	0.00623	0	37	80		
TTN	7273	broad.mit.edu	37	2	179439443	179439443	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:179439443T>C	ENST00000591111.1	-	276	66717	c.66493A>G	c.(66493-66495)Aga>Gga	p.R22165G	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R14933G|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R23806G|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R21238G|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R14866G|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R14741G			Q8WZ42	TITIN_HUMAN	titin	22165	Fibronectin type-III 60. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTCCATATCTATTCTGAGCT	0.463																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(63712-63714)AGA>GGA		titin isoform N2-A							129.0	121.0	124.0					2																	179439443		1943	4148	6091	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179439443T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.66493A>G	2.37:g.179439443T>C	ENSP00000465570:p.Arg22165Gly					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R14933G|TTN_uc010zfi.1_Missense_Mutation_p.R14866G|TTN_uc010zfj.1_Missense_Mutation_p.R14741G	p.R21238G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	63936	-			22165					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.63712A>G		.	.	.	.	.	.	.	.	.	.	T	11.10	1.539685	0.27563	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	5.49	4.27	0.50696	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.51550	0.1681	L	0.56396	1.775	0.54753	D	0.99998	P;P;P;P	0.50819	0.939;0.939;0.939;0.939	P;P;P;P	0.51453	0.67;0.67;0.67;0.67	T	0.55685	-0.8102	9	0.87932	D	0	.	8.1752	0.31278	0.0:0.0722:0.1348:0.793	.	14741;14866;14933;22165	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	G	21238;14741;14933;14866;14739	ENSP00000343764:R21238G;ENSP00000434586:R14741G;ENSP00000340554:R14933G;ENSP00000352154:R14866G	ENSP00000340554:R14933G	R	-	1	2	TTN	179147689	1.000000	0.71417	0.976000	0.42696	0.990000	0.78478	5.054000	0.64275	2.092000	0.63282	0.528000	0.53228	AGA		0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		32	55	0	0	0	0.003271	0	32	55		
TTN	7273	broad.mit.edu	37	2	179650673	179650673	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:179650673G>C	ENST00000591111.1	-	14	2496	c.2272C>G	c.(2272-2274)Cac>Gac	p.H758D	TTN_ENST00000342175.6_Missense_Mutation_p.H712D|TTN_ENST00000360870.5_Missense_Mutation_p.H758D|TTN_ENST00000589042.1_Missense_Mutation_p.H758D|TTN_ENST00000342992.6_Missense_Mutation_p.H758D|TTN_ENST00000359218.5_Missense_Mutation_p.H712D|TTN_ENST00000460472.2_Missense_Mutation_p.H712D			Q8WZ42	TITIN_HUMAN	titin	33599					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGACAACGTGGGGTTCTGAG	0.488																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(2272-2274)CAC>GAC		titin isoform N2-A							92.0	83.0	86.0					2																	179650673		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179650673G>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.2272C>G	2.37:g.179650673G>C	ENSP00000465570:p.His758Asp					TTN_uc010zfh.1_Missense_Mutation_p.H712D|TTN_uc010zfi.1_Missense_Mutation_p.H712D|TTN_uc010zfj.1_Missense_Mutation_p.H712D|TTN_uc002unb.2_Missense_Mutation_p.H758D|TTN_uc010frg.1_Missense_Mutation_p.H340D	p.H758D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		14	2496	-			758					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.2272C>G		.	.	.	.	.	.	.	.	.	.	G	15.18	2.757930	0.49468	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.62232	0.04;0.27;0.26;0.25;0.41	5.87	5.87	0.94306	Ribonuclease H-like (1);	.	.	.	.	T	0.52773	0.1755	N	0.24115	0.695	0.29851	N	0.82846	B;B;B;B;P	0.35272	0.058;0.058;0.058;0.058;0.493	B;B;B;B;B	0.31101	0.014;0.014;0.014;0.014;0.124	T	0.58418	-0.7640	9	0.87932	D	0	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	712;712;712;758;758	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	D	758;712;712;712;712;758	ENSP00000343764:H758D;ENSP00000434586:H712D;ENSP00000340554:H712D;ENSP00000352154:H712D;ENSP00000354117:H758D	ENSP00000340554:H712D	H	-	1	0	TTN	179358918	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	5.705000	0.68355	2.941000	0.99782	0.655000	0.94253	CAC		0.488	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		28	45	0	0	0	0.00632	0	28	45		
BMPR2	659	broad.mit.edu	37	2	203420156	203420156	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:203420156G>A	ENST00000374580.4	+	12	2307	c.1768G>A	c.(1768-1770)Gaa>Aaa	p.E590K	BMPR2_ENST00000374574.2_Intron	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	590					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						AATTAACTATGAACGACAGCA	0.463																																						uc002uzf.3		NaN																	0				ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1)	9						c.(1768-1770)GAA>AAA		bone morphogenetic protein receptor type II							138.0	120.0	126.0					2																	203420156		2203	4300	6503	SO:0001583	missense	659				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity	g.chr2:203420156G>A	Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"""primary pulmonary hypertension 1"""	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.1768G>A	2.37:g.203420156G>A	ENSP00000363708:p.Glu590Lys					BMPR2_uc010ftr.2_Intron	p.E590K	NM_001204	NP_001195	Q13873	BMPR2_HUMAN			12	2916	+			590			Cytoplasmic (Potential).		Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Missense_Mutation	SNP	ENST00000374580.4	37	c.1768G>A	CCDS33361.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.856162	0.91355	.	.	ENSG00000204217	ENST00000374580	D	0.84516	-1.86	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.88966	0.6581	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.89518	0.3776	10	0.62326	D	0.03	.	19.9329	0.97127	0.0:0.0:1.0:0.0	.	590	Q13873	BMPR2_HUMAN	K	590	ENSP00000363708:E590K	ENSP00000363708:E590K	E	+	1	0	BMPR2	203128401	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.624000	0.98398	2.714000	0.92807	0.650000	0.86243	GAA		0.463	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1		NM_001204		24	40	0	0	0	0.014323	0	24	40		
INO80D	54891	broad.mit.edu	37	2	206921331	206921331	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:206921331C>T	ENST00000403263.1	-	4	959	c.555G>A	c.(553-555)gaG>gaA	p.E185E		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	185					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						CTTTTAAAATCTCTGTCTCTC	0.498																																						uc002vaz.3		NaN																	0				ovary(1)	1						c.(553-555)GAG>GAA		INO80 complex subunit D							43.0	46.0	45.0					2																	206921331		2032	4175	6207	SO:0001819	synonymous_variant	54891				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:206921331C>T		CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"""INO80 complex subunits"""	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.555G>A	2.37:g.206921331C>T							p.E185E	NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN			4	960	-			185					B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Silent	SNP	ENST00000403263.1	37	c.555G>A	CCDS46500.1																																																																																				0.498	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336459.1		NM_017759		5	14	0	0	0	0.000602	0	5	14		
TNS1	7145	broad.mit.edu	37	2	218762563	218762563	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:218762563C>G	ENST00000171887.4	-	6	578	c.126G>C	c.(124-126)gaG>gaC	p.E42D	TNS1_ENST00000419504.1_Missense_Mutation_p.E42D|TNS1_ENST00000310858.6_Missense_Mutation_p.E73D|TNS1_ENST00000430930.1_Missense_Mutation_p.E42D	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	42	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TCTGCGCCACCTCACGGAGGT	0.572																																						uc002vgt.2		NaN																	0				ovary(3)|breast(1)	4						c.(124-126)GAG>GAC		tensin							172.0	147.0	155.0					2																	218762563		2203	4300	6503	SO:0001583	missense	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218762563C>G	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.126G>C	2.37:g.218762563C>G	ENSP00000171887:p.Glu42Asp					TNS1_uc002vgr.2_Missense_Mutation_p.E42D|TNS1_uc002vgs.2_Missense_Mutation_p.E42D|TNS1_uc010zjv.1_Missense_Mutation_p.E42D|TNS1_uc010fvj.1_Missense_Mutation_p.E110D|TNS1_uc010fvk.1_Missense_Mutation_p.E167D|TNS1_uc002vgu.3_Missense_Mutation_p.E73D|TNS1_uc002vgv.1_RNA	p.E42D	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	6	524	-		Renal(207;0.0483)|Lung NSC(271;0.213)	42			Phosphatase tensin-type.		Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	c.126G>C	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	C	10.59	1.393587	0.25205	.	.	ENSG00000079308	ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903;ENST00000413554;ENST00000310858;ENST00000413280;ENST00000439083;ENST00000423413	D;D;D;D;D;D;D;D;D	0.98437	-4.93;-4.93;-4.93;-4.93;-4.93;-4.93;-4.93;-4.93;-4.61	5.42	2.66	0.31614	Phosphatase tensin type (1);	0.104313	0.64402	D	0.000005	D	0.93510	0.7929	N	0.16098	0.37	0.54753	D	0.999984	B;B;B;P;B;B	0.51240	0.208;0.001;0.004;0.943;0.433;0.433	B;B;B;B;B;B	0.41466	0.085;0.008;0.017;0.358;0.085;0.085	D	0.90297	0.4327	10	0.40728	T	0.16	.	8.5211	0.33275	0.0:0.6206:0.0:0.3794	.	42;96;73;42;42;42	B2RU35;A1L0S7;Q6IPI5;Q9HBL0;E9PGF5;E9PF55	.;.;.;TENS1_HUMAN;.;.	D	42;42;42;167;110;73;42;42;107	ENSP00000171887:E42D;ENSP00000408724:E42D;ENSP00000406016:E42D;ENSP00000405460:E167D;ENSP00000400383:E110D;ENSP00000308321:E73D;ENSP00000395615:E42D;ENSP00000404477:E42D;ENSP00000411349:E107D	ENSP00000171887:E42D	E	-	3	2	TNS1	218470808	0.998000	0.40836	0.982000	0.44146	0.996000	0.88848	0.645000	0.24782	0.409000	0.25649	0.655000	0.94253	GAG		0.572	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2		NM_022648		31	43	0	0	0	0.008361	0	31	43		
CATIP	375307	broad.mit.edu	37	2	219229358	219229358	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:219229358T>C	ENST00000289388.3	+	7	667	c.638T>C	c.(637-639)cTg>cCg	p.L213P	AC021016.6_ENST00000441749.1_RNA|C2orf62_ENST00000481940.1_Intron	NM_198559.1	NP_940961.1	Q7Z7H3	CATIP_HUMAN		213					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGCAAAACCTGGGCTTCCAG	0.562																																						uc002vhr.2		NaN																	0					0						c.(637-639)CTG>CCG		hypothetical protein LOC375307							70.0	65.0	67.0					2																	219229358		2203	4300	6503	SO:0001583	missense	375307							g.chr2:219229358T>C																												ENST00000289388.3:c.638T>C	2.37:g.219229358T>C	ENSP00000289388:p.Leu213Pro					C2orf62_uc002vhs.2_Intron	p.L213P	NM_198559	NP_940961	Q7Z7H3	CB062_HUMAN		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	667	+		Renal(207;0.0915)	213						Missense_Mutation	SNP	ENST00000289388.3	37	c.638T>C	CCDS2414.1	.	.	.	.	.	.	.	.	.	.	T	11.95	1.790628	0.31685	.	.	ENSG00000158428	ENST00000289388	.	.	.	4.74	4.74	0.60224	.	0.081430	0.49916	D	0.000125	T	0.66829	0.2829	M	0.72894	2.215	0.80722	D	1	B	0.14805	0.011	B	0.21708	0.036	T	0.68281	-0.5450	9	0.87932	D	0	-2.0444	13.3384	0.60530	0.0:0.0:0.0:1.0	.	213	Q7Z7H3	CB062_HUMAN	P	213	.	ENSP00000289388:L213P	L	+	2	0	C2orf62	218937602	1.000000	0.71417	1.000000	0.80357	0.480000	0.33159	4.211000	0.58507	1.974000	0.57490	0.459000	0.35465	CTG		0.562	C2orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256771.1				38	51	0	0	0	0.004878	0	38	51		
RNF25	64320	broad.mit.edu	37	2	219537634	219537634	+	5'Flank	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:219537634C>G	ENST00000295704.2	-	0	0				STK36_ENST00000392106.2_Missense_Mutation_p.Q28E|STK36_ENST00000392105.3_Missense_Mutation_p.Q28E|STK36_ENST00000295709.3_Missense_Mutation_p.Q28E|STK36_ENST00000440309.1_Missense_Mutation_p.Q28E	NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25						positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|NF-kappaB binding (GO:0051059)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATACAGTGCTCAGGTGTTGCA	0.443																																						uc002viu.2		NaN																	0				ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	11						c.(82-84)CAG>GAG		serine/threonine kinase 36							131.0	134.0	133.0					2																	219537634		2203	4300	6503	SO:0001631	upstream_gene_variant	27148				cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding	g.chr2:219537634C>G		CCDS2420.1	2q35	2008-02-05			ENSG00000163481	ENSG00000163481		"""RING-type (C3HC4) zinc fingers"""	14662	protein-coding gene	gene with protein product						12748188	Standard	NM_022453		Approved	AO7, FLJ13906	uc002vit.3	Q96BH1	OTTHUMG00000133077		2.37:g.219537634C>G	Exception_encountered					STK36_uc002viv.2_Missense_Mutation_p.Q28E|RNF25_uc002vit.2_5'Flank|RNF25_uc010fvw.2_5'Flank	p.Q28E	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)	2	348	+		Renal(207;0.0915)	28			Protein kinase.		A8K0D6|Q53HQ5|Q9H874	Missense_Mutation	SNP	ENST00000295704.2	37	c.82C>G	CCDS2420.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.858726	0.51376	.	.	ENSG00000163482	ENST00000295709;ENST00000392106;ENST00000392105;ENST00000440309;ENST00000424080	T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07	5.84	5.84	0.93424	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.43110	D	0.000616	T	0.46092	0.1375	N	0.12920	0.275	0.54753	D	0.999988	B;B	0.14805	0.011;0.004	B;B	0.19391	0.025;0.016	T	0.43015	-0.9417	10	0.72032	D	0.01	-16.2054	11.407	0.49904	0.1405:0.7241:0.1354:0.0	.	28;28	Q9NRP7-2;Q9NRP7	.;STK36_HUMAN	E	28	ENSP00000295709:Q28E;ENSP00000375955:Q28E;ENSP00000375954:Q28E;ENSP00000394095:Q28E;ENSP00000403527:Q28E	ENSP00000295709:Q28E	Q	+	1	0	STK36	219245878	0.997000	0.39634	1.000000	0.80357	0.915000	0.54546	2.901000	0.48695	2.779000	0.95612	0.655000	0.94253	CAG		0.443	RNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256721.1		NM_022453		37	54	0	0	0	0.004289	0	37	54		
CHPF	79586	broad.mit.edu	37	2	220406655	220406655	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:220406655C>T	ENST00000243776.6	-	2	819	c.571G>A	c.(571-573)Gac>Aac	p.D191N	CHPF_ENST00000535926.1_Missense_Mutation_p.D29N|CHPF_ENST00000373891.2_Missense_Mutation_p.D191N|TMEM198_ENST00000344458.2_5'Flank|TMEM198_ENST00000373883.3_5'Flank	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	191					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CAGTCAAAGTCGTCGCCGTGC	0.687											OREG0015229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002vmc.3		NaN																	0					0						c.(571-573)GAC>AAC		chondroitin polymerizing factor							33.0	29.0	30.0					2																	220406655		2202	4300	6502	SO:0001583	missense	79586					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding	g.chr2:220406655C>T	BC008878	CCDS2443.1, CCDS56169.1	2q35	2014-02-12			ENSG00000123989	ENSG00000123989	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24291	protein-coding gene	gene with protein product	"""chondroitin sulfate synthase 2"""	610405				11230166, 12716890	Standard	NM_024536		Approved	CSS2, CHSY2	uc002vmc.4	Q8IZ52	OTTHUMG00000058929	ENST00000243776.6:c.571G>A	2.37:g.220406655C>T	ENSP00000243776:p.Asp191Asn		OREG0015229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2266	CHPF_uc010zlh.1_Missense_Mutation_p.D29N|CHPF_uc002vmd.3_Missense_Mutation_p.D191N|TMEM198_uc002vme.2_5'Flank|TMEM198_uc002vmf.2_5'Flank	p.D191N	NM_024536	NP_078812	Q8IZ52	CHSS2_HUMAN		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	2	798	-		Renal(207;0.0183)	191			Lumenal (Potential).		B4DXU0|Q6UXD6|Q7L4G1|Q9H0F8|Q9H618	Missense_Mutation	SNP	ENST00000243776.6	37	c.571G>A	CCDS2443.1	.	.	.	.	.	.	.	.	.	.	C	35	5.447353	0.96205	.	.	ENSG00000123989	ENST00000243776;ENST00000535926;ENST00000373891	T;T	0.11821	2.74;2.8	4.41	4.41	0.53225	.	0.060210	0.64402	D	0.000003	T	0.24967	0.0606	L	0.38175	1.15	0.58432	D	0.999997	D;D	0.76494	0.997;0.999	P;P	0.62184	0.879;0.899	T	0.01312	-1.1388	10	0.30078	T	0.28	-28.441	17.5653	0.87918	0.0:1.0:0.0:0.0	.	191;191	F8W6H2;Q8IZ52	.;CHSS2_HUMAN	N	191;29;191	ENSP00000243776:D191N;ENSP00000445571:D29N	ENSP00000243776:D191N	D	-	1	0	CHPF	220114899	1.000000	0.71417	0.979000	0.43373	0.994000	0.84299	7.644000	0.83416	2.468000	0.83385	0.549000	0.68633	GAC		0.687	CHPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130268.1		NM_024536		12	18	0	0	0	0.013537	0	12	18		
SCG2	7857	broad.mit.edu	37	2	224463114	224463114	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:224463114C>T	ENST00000305409.2	-	2	1119	c.887G>A	c.(886-888)cGg>cAg	p.R296Q		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0	Interaction with FANCD2.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)	p.R296L(1)		NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		ACTCTCTTTCCGAAGATCTTC	0.418																																						uc002vnm.2		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(886-888)CGG>CAG		secretogranin II precursor							154.0	155.0	155.0					2																	224463114		2203	4300	6503	SO:0001583	missense	7857				angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity	g.chr2:224463114C>T	M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"""secretoneurin"", ""chromogranin C"""	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.887G>A	2.37:g.224463114C>T	ENSP00000304133:p.Arg296Gln						p.R296Q	NM_003469	NP_003460	P13521	SCG2_HUMAN		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)	2	1020	-		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)	296					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000305409.2	37	c.887G>A	CCDS2457.1	.	.	.	.	.	.	.	.	.	.	C	3.628	-0.076204	0.07184	.	.	ENSG00000171951	ENST00000305409;ENST00000450330	T	0.01665	4.7	5.39	-3.91	0.04168	.	0.508381	0.18968	N	0.126202	T	0.01905	0.0060	L	0.39898	1.24	0.19300	N	0.999978	B	0.23377	0.084	B	0.15484	0.013	T	0.24835	-1.0149	10	0.52906	T	0.07	.	14.577	0.68255	0.0:0.2877:0.0:0.7123	.	296	P13521	SCG2_HUMAN	Q	296;156	ENSP00000304133:R296Q	ENSP00000304133:R296Q	R	-	2	0	SCG2	224171358	0.009000	0.17119	0.335000	0.25508	0.218000	0.24690	-0.746000	0.04829	-1.347000	0.02208	-0.355000	0.07637	CGG		0.418	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2		NM_003469		18	136	0	0	0	0.006122	0	18	136		
SERPINE2	5270	broad.mit.edu	37	2	224849561	224849561	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:224849561C>T	ENST00000258405.4	-	5	1034	c.792G>A	c.(790-792)ccG>ccA	p.P264P	SERPINE2_ENST00000409840.3_Silent_p.P264P|SERPINE2_ENST00000409304.1_Silent_p.P264P|SERPINE2_ENST00000447280.2_Silent_p.P276P	NM_001136528.1|NM_006216.3	NP_001130000.1|NP_006207.1	P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	264					blood coagulation (GO:0007596)|cerebellar granular layer morphogenesis (GO:0021683)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|innervation (GO:0060384)|long-term synaptic potentiation (GO:0060291)|mating plug formation (GO:0042628)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein processing (GO:0010955)|negative regulation of proteolysis (GO:0045861)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of sodium ion transport (GO:0010766)|positive regulation of astrocyte differentiation (GO:0048711)|regulation of cell migration (GO:0030334)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of timing of cell differentiation (GO:0048505)|secretion by cell (GO:0032940)|secretory granule organization (GO:0033363)|seminal vesicle epithelium development (GO:0061108)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|neuromuscular junction (GO:0031594)|platelet alpha granule (GO:0031091)|vesicle (GO:0031982)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TGGCAGACAGCGGAGTGGAGC	0.537																																						uc002vnu.2		NaN																	0				breast(2)|ovary(1)|central_nervous_system(1)	4						c.(790-792)CCG>CCA		plasminogen activator inhibitor type 1, member 2							143.0	121.0	128.0					2																	224849561		2203	4300	6503	SO:0001819	synonymous_variant	5270				negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity	g.chr2:224849561C>T	M17783	CCDS2460.1, CCDS46525.1, CCDS46526.1	2q36.1	2014-02-18	2005-08-18		ENSG00000135919	ENSG00000135919		"""Serine (or cysteine) peptidase inhibitors"""	8951	protein-coding gene	gene with protein product	"""glial-derived nexin 1"""	177010	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2"""	PI7		7665170, 24172014	Standard	NM_006216		Approved	PN1, GDN, PNI, nexin	uc002vnu.2	P07093	OTTHUMG00000133163	ENST00000258405.4:c.792G>A	2.37:g.224849561C>T						SERPINE2_uc002vnt.2_Silent_p.P264P|SERPINE2_uc010zlr.1_Silent_p.P276P|SERPINE2_uc002vnv.2_Silent_p.P264P	p.P264P	NM_006216	NP_006207	P07093	GDN_HUMAN		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)	5	1035	-		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)	264					B2R6A4|B4DIF2|Q53S15|Q5D0C4	Silent	SNP	ENST00000258405.4	37	c.792G>A	CCDS2460.1																																																																																				0.537	SERPINE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256865.2		NM_006216		18	37	0	0	0	0.00499	0	18	37		
SERPINE2	5270	broad.mit.edu	37	2	224856541	224856541	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:224856541G>T	ENST00000258405.4	-	4	906	c.664C>A	c.(664-666)Cag>Aag	p.Q222K	SERPINE2_ENST00000409840.3_Missense_Mutation_p.Q222K|SERPINE2_ENST00000409304.1_Missense_Mutation_p.Q222K|SERPINE2_ENST00000447280.2_Missense_Mutation_p.Q234K	NM_001136528.1|NM_006216.3	NP_001130000.1|NP_006207.1	P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	222					blood coagulation (GO:0007596)|cerebellar granular layer morphogenesis (GO:0021683)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|innervation (GO:0060384)|long-term synaptic potentiation (GO:0060291)|mating plug formation (GO:0042628)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein processing (GO:0010955)|negative regulation of proteolysis (GO:0045861)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of sodium ion transport (GO:0010766)|positive regulation of astrocyte differentiation (GO:0048711)|regulation of cell migration (GO:0030334)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of timing of cell differentiation (GO:0048505)|secretion by cell (GO:0032940)|secretory granule organization (GO:0033363)|seminal vesicle epithelium development (GO:0061108)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|neuromuscular junction (GO:0031594)|platelet alpha granule (GO:0031091)|vesicle (GO:0031982)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		ACGGAGAGCTGGGCCAGCATT	0.527																																						uc002vnu.2		NaN																	0				breast(2)|ovary(1)|central_nervous_system(1)	4						c.(664-666)CAG>AAG		plasminogen activator inhibitor type 1, member 2							130.0	97.0	108.0					2																	224856541		2203	4300	6503	SO:0001583	missense	5270				negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity	g.chr2:224856541G>T	M17783	CCDS2460.1, CCDS46525.1, CCDS46526.1	2q36.1	2014-02-18	2005-08-18		ENSG00000135919	ENSG00000135919		"""Serine (or cysteine) peptidase inhibitors"""	8951	protein-coding gene	gene with protein product	"""glial-derived nexin 1"""	177010	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2"""	PI7		7665170, 24172014	Standard	NM_006216		Approved	PN1, GDN, PNI, nexin	uc002vnu.2	P07093	OTTHUMG00000133163	ENST00000258405.4:c.664C>A	2.37:g.224856541G>T	ENSP00000258405:p.Gln222Lys					SERPINE2_uc002vnt.2_Missense_Mutation_p.Q222K|SERPINE2_uc010zlr.1_Missense_Mutation_p.Q234K|SERPINE2_uc002vnv.2_Missense_Mutation_p.Q222K	p.Q222K	NM_006216	NP_006207	P07093	GDN_HUMAN		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)	4	907	-		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)	222					B2R6A4|B4DIF2|Q53S15|Q5D0C4	Missense_Mutation	SNP	ENST00000258405.4	37	c.664C>A	CCDS2460.1	.	.	.	.	.	.	.	.	.	.	G	35	5.481951	0.96307	.	.	ENSG00000135919	ENST00000409304;ENST00000258405;ENST00000409840;ENST00000447280;ENST00000432738	D;D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86;-1.86	5.8	5.8	0.92144	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.88654	0.6495	L	0.52823	1.66	0.80722	D	1	D;D	0.53462	0.96;0.96	P;P	0.54210	0.745;0.745	D	0.86878	0.2040	10	0.38643	T	0.18	.	20.0589	0.97667	0.0:0.0:1.0:0.0	.	234;222	B4DIF2;P07093	.;GDN_HUMAN	K	222;222;222;234;222	ENSP00000386412:Q222K;ENSP00000258405:Q222K;ENSP00000386969:Q222K;ENSP00000415786:Q234K;ENSP00000408452:Q222K	ENSP00000258405:Q222K	Q	-	1	0	SERPINE2	224564785	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.400000	0.97290	2.732000	0.93576	0.650000	0.86243	CAG		0.527	SERPINE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256865.2		NM_006216		14	42	1	0	1.5842e-08	0.001855	1.67351e-08	14	42		
COL4A3	1285	broad.mit.edu	37	2	228137702	228137702	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:228137702G>C	ENST00000396578.3	+	26	1958	c.1796G>C	c.(1795-1797)gGg>gCg	p.G599A	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	599	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGTCCTCCAGGGGATCCTGGC	0.557																																						uc002vom.1		NaN																	0				skin(2)|ovary(1)	3						c.(1795-1797)GGG>GCG		alpha 3 type IV collagen isoform 1 precursor							47.0	52.0	51.0					2																	228137702		1906	4121	6027	SO:0001583	missense	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228137702G>C		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.1796G>C	2.37:g.228137702G>C	ENSP00000379823:p.Gly599Ala					COL4A3_uc002von.1_Missense_Mutation_p.G599A|COL4A3_uc002voo.1_Missense_Mutation_p.G599A|COL4A3_uc002vop.1_Missense_Mutation_p.G599A|uc002voq.1_Intron|uc002vor.1_Intron	p.G599A	NM_000091	NP_000082	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	26	1958	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	599			Triple-helical region.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	ENST00000396578.3	37	c.1796G>C	CCDS42829.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.274422	0.80580	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.99418	-5.87	5.6	5.6	0.85130	.	0.000000	0.56097	D	0.000022	D	0.99648	0.9870	M	0.93720	3.45	0.53688	D	0.999975	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.97815	1.0253	10	0.87932	D	0	.	16.5311	0.84359	0.0:0.0:1.0:0.0	.	599;599;599;599	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	A	599	ENSP00000379823:G599A	ENSP00000323334:G599A	G	+	2	0	COL4A3	227845946	1.000000	0.71417	0.997000	0.53966	0.951000	0.60555	6.825000	0.75293	2.638000	0.89438	0.455000	0.32223	GGG		0.557	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2		NM_000091		26	44	0	0	0	0.005443	0	26	44		
FBXO36	130888	broad.mit.edu	37	2	230787323	230787323	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:230787323C>G	ENST00000283946.3	+	1	112	c.94C>G	c.(94-96)Cag>Gag	p.Q32E	TRIP12_ENST00000389044.4_5'Flank|TRIP12_ENST00000409677.1_5'Flank|TRIP12_ENST00000389045.3_5'Flank|FBXO36_ENST00000373652.3_5'UTR|TRIP12_ENST00000543084.1_5'Flank|TRIP12_ENST00000283943.5_5'Flank|FBXO36_ENST00000409992.1_Missense_Mutation_p.Q32E	NM_174899.4	NP_777559.3	Q8NEA4	FBX36_HUMAN	F-box protein 36	32										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7		Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008)		CACCCGGTCTCAGGCAAGTGC	0.612																																						uc002vqa.2		NaN																	0				ovary(1)	1						c.(94-96)CAG>GAG		F-box protein 36							48.0	43.0	45.0					2																	230787323		2203	4300	6503	SO:0001583	missense	130888							g.chr2:230787323C>G	BC033935	CCDS2472.1	2q37.1	2008-02-05	2004-06-15		ENSG00000153832	ENSG00000153832		"""F-boxes /  ""other"""""	27020	protein-coding gene	gene with protein product		609105	"""F-box only protein 36"""			12477932	Standard	NM_174899		Approved	Fbx36, FLJ37592	uc002vqa.3	Q8NEA4	OTTHUMG00000133206	ENST00000283946.3:c.94C>G	2.37:g.230787323C>G	ENSP00000283946:p.Gln32Glu					TRIP12_uc002vpw.1_5'Flank|TRIP12_uc002vpx.1_5'Flank|TRIP12_uc002vpy.1_5'Flank|TRIP12_uc010zlz.1_5'Flank|TRIP12_uc010fxh.1_5'Flank|FBXO36_uc002vpz.2_Missense_Mutation_p.Q32E|FBXO36_uc002vqb.2_5'UTR|FBXO36_uc010fxi.1_Missense_Mutation_p.Q32E|FBXO36_uc002vqc.2_RNA	p.Q32E	NM_174899	NP_777559	Q8NEA4	FBX36_HUMAN		Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	117	+		Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)	32					B3KVQ6|Q53TE6|Q8WWD4	Missense_Mutation	SNP	ENST00000283946.3	37	c.94C>G	CCDS2472.1	.	.	.	.	.	.	.	.	.	.	C	2.885	-0.230896	0.05983	.	.	ENSG00000153832	ENST00000283946;ENST00000409992	T	0.39229	1.09	4.07	4.07	0.47477	.	0.074978	0.50627	D	0.000116	T	0.32466	0.0830	N	0.05012	-0.13	0.32175	N	0.58112	B;P	0.52842	0.0;0.956	B;P	0.62184	0.001;0.899	T	0.14420	-1.0473	10	0.02654	T	1	-2.63	11.6069	0.51037	0.0:1.0:0.0:0.0	.	32;32	Q8NEA4;B8ZZQ1	FBX36_HUMAN;.	E	32	ENSP00000283946:Q32E	ENSP00000283946:Q32E	Q	+	1	0	FBXO36	230495567	0.964000	0.33143	0.971000	0.41717	0.982000	0.71751	1.855000	0.39378	2.113000	0.64589	0.655000	0.94253	CAG		0.612	FBXO36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256919.2		NM_174899		12	34	0	0	0	0.010729	0	12	34		
SP110	3431	broad.mit.edu	37	2	231035336	231035336	+	Splice_Site	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:231035336C>T	ENST00000358662.4	-	17	2035		c.e17+1		SP110_ENST00000258381.6_Splice_Site|AC009950.2_ENST00000594622.1_RNA|AC009950.2_ENST00000454058.1_RNA|AC009950.2_ENST00000595586.2_RNA|AC009950.2_ENST00000609120.1_RNA|AC009950.2_ENST00000600787.1_RNA	NM_004509.3	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein						regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		ATGCTCTTTACCTTGTAAAAT	0.443																																						uc002vqh.3		NaN																	0				ovary(2)|breast(2)	4						c.e17+1		SP110 nuclear body protein isoform a							133.0	117.0	122.0					2																	231035336		2203	4300	6503	SO:0001630	splice_region_variant	3431				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding	g.chr2:231035336C>T	L22343	CCDS2474.1, CCDS2475.1, CCDS2476.1, CCDS54435.1	2q37.1	2014-09-17	2001-12-19	2001-12-20	ENSG00000135899	ENSG00000135899			5401	protein-coding gene	gene with protein product		604457	"""interferon-induced protein 41, 30kD"""	IFI41, IFI75		7693701, 10388521	Standard	NM_080424		Approved		uc002vqg.3	Q9HB58	OTTHUMG00000133204	ENST00000358662.4:c.1956+1G>A	2.37:g.231035336C>T						SP110_uc002vqg.3_Splice_Site_p.K676_splice	p.K652_splice	NM_004509	NP_004500	Q9HB58	SP110_HUMAN		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)	17	2196	-		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)						B4DVI4|F5H1M1|Q14976|Q14977|Q53TG2|Q8WUZ6|Q9HCT8	Splice_Site	SNP	ENST00000358662.4	37	c.1956_splice	CCDS2474.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.072072	0.36566	.	.	ENSG00000135899	ENST00000258381;ENST00000358662	.	.	.	4.01	4.01	0.46588	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3439	0.55109	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SP110	230743580	0.976000	0.34144	0.875000	0.34327	0.141000	0.21300	1.867000	0.39499	2.195000	0.70347	0.462000	0.41574	.		0.443	SP110-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000332414.1		NM_080424	Intron	10	25	0	0	0	0.010729	0	10	25		
SP140L	93349	broad.mit.edu	37	2	231222548	231222548	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:231222548G>A	ENST00000415673.2	+	3	222	c.136G>A	c.(136-138)Gag>Aag	p.E46K	SP140_ENST00000486687.2_Silent_p.*769*|SP140L_ENST00000243810.6_Missense_Mutation_p.E46K|SP140L_ENST00000458341.1_5'UTR|SP140L_ENST00000396563.4_Missense_Mutation_p.E46K|SP140L_ENST00000444636.1_Missense_Mutation_p.E46K	NM_138402.4	NP_612411.4	Q9H930	SP14L_HUMAN	SP140 nuclear body protein-like	46	HSR. {ECO:0000255|PROSITE- ProRule:PRU00747}.					nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						GGATGTAGATGAGGGACTTGT	0.398																																						uc010fxm.1		NaN																	0				central_nervous_system(1)	1						c.(136-138)GAG>AAG		SP140 nuclear body protein-like							205.0	208.0	207.0					2																	231222548		2175	4293	6468	SO:0001583	missense	93349					nucleus	DNA binding|metal ion binding	g.chr2:231222548G>A	BC004921	CCDS46538.1	2q37.1	2013-01-28			ENSG00000185404	ENSG00000185404		"""Zinc fingers, PHD-type"""	25105	protein-coding gene	gene with protein product						12477932	Standard	NM_138402		Approved		uc010fxm.1	Q9H930	OTTHUMG00000153730	ENST00000415673.2:c.136G>A	2.37:g.231222548G>A	ENSP00000397911:p.Glu46Lys					SP140_uc010zma.1_RNA|SP140L_uc010fxn.1_5'UTR	p.E46K	NM_138402	NP_612411	Q9H930	LY10L_HUMAN			3	227	+			46			HSR.		Q2M375|Q4ZG65|Q9BSP3	Missense_Mutation	SNP	ENST00000415673.2	37	c.136G>A	CCDS46538.1	.	.	.	.	.	.	.	.	.	.	G	10.10	1.258889	0.23051	.	.	ENSG00000185404	ENST00000444636;ENST00000415673;ENST00000243810;ENST00000396563	D;T;D;D	0.83914	-1.64;-1.3;-1.64;-1.78	3.5	-2.52	0.06346	.	.	.	.	.	T	0.74854	0.3771	L	0.49350	1.555	0.09310	N	1	B	0.21905	0.062	B	0.19391	0.025	T	0.59968	-0.7354	9	0.36615	T	0.2	.	8.6065	0.33775	0.7536:0.0:0.2464:0.0	.	46	Q9H930-4	.	K	46	ENSP00000395195:E46K;ENSP00000397911:E46K;ENSP00000243810:E46K;ENSP00000379811:E46K	ENSP00000243810:E46K	E	+	1	0	SP140L	230930792	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.357000	0.07651	-0.490000	0.06707	0.484000	0.47621	GAG		0.398	SP140L-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374538.1		NM_138402		27	188	0	0	0	0.009535	0	27	188		
PSMD1	5707	broad.mit.edu	37	2	231936987	231936987	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:231936987C>T	ENST00000308696.6	+	7	901	c.739C>T	c.(739-741)Cag>Tag	p.Q247*	PSMD1_ENST00000409643.1_Nonsense_Mutation_p.Q247*|PSMD1_ENST00000373635.4_Nonsense_Mutation_p.Q247*	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	247					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	GATGGCATATCAGATTTGTTT	0.403																																						uc002vrn.1		NaN																	0				ovary(1)|skin(1)	2						c.(739-741)CAG>TAG		proteasome 26S non-ATPase subunit 1	Bortezomib(DB00188)						216.0	211.0	213.0					2																	231936987		2203	4300	6503	SO:0001587	stop_gained	5707				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr2:231936987C>T	D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"""Proteasome (prosome, macropain) subunits"""	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.739C>T	2.37:g.231936987C>T	ENSP00000309474:p.Gln247*					PSMD1_uc002vrm.1_Nonsense_Mutation_p.Q247*|PSMD1_uc010fxu.1_Nonsense_Mutation_p.Q111*	p.Q247*	NM_002807	NP_002798	Q99460	PSMD1_HUMAN		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	7	870	+		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)	247					B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Nonsense_Mutation	SNP	ENST00000308696.6	37	c.739C>T	CCDS2482.1	.	.	.	.	.	.	.	.	.	.	C	38	7.035040	0.98017	.	.	ENSG00000173692	ENST00000308696;ENST00000373635;ENST00000409643	.	.	.	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.6046	20.4581	0.99154	0.0:1.0:0.0:0.0	.	.	.	.	X	247	.	ENSP00000309474:Q247X	Q	+	1	0	PSMD1	231645231	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.835000	0.97688	0.650000	0.86243	CAG		0.403	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2				47	117	0	0	0	0.01441	0	47	117		
GIGYF2	26058	broad.mit.edu	37	2	233626135	233626135	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:233626135G>A	ENST00000409547.1	+	10	832	c.521G>A	c.(520-522)cGa>cAa	p.R174Q	GIGYF2_ENST00000409451.3_Missense_Mutation_p.R174Q|GIGYF2_ENST00000409480.1_Missense_Mutation_p.R174Q|GIGYF2_ENST00000409196.3_Missense_Mutation_p.R174Q|GIGYF2_ENST00000373563.4_Missense_Mutation_p.R174Q|GIGYF2_ENST00000373566.3_Missense_Mutation_p.R174Q|AC064852.4_ENST00000427571.1_RNA	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	174	Arg-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AAACCAGGACGAAAAGATGTA	0.378																																						uc002vti.3		NaN																	0				ovary(4)|central_nervous_system(3)	7						c.(520-522)CGA>CAA		GRB10 interacting GYF protein 2 isoform b							85.0	83.0	84.0					2																	233626135		2203	4300	6503	SO:0001583	missense	26058				cell death		protein binding	g.chr2:233626135G>A	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.521G>A	2.37:g.233626135G>A	ENSP00000386537:p.Arg174Gln					GIGYF2_uc010zmj.1_Missense_Mutation_p.R174Q|GIGYF2_uc002vtg.2_Missense_Mutation_p.R174Q|GIGYF2_uc002vtj.3_Missense_Mutation_p.R174Q|GIGYF2_uc002vtk.3_Missense_Mutation_p.R174Q|GIGYF2_uc002vth.3_Missense_Mutation_p.R174Q|GIGYF2_uc010zmk.1_RNA	p.R174Q	NM_015575	NP_056390	Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	10	858	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	174			Arg-rich.		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	ENST00000409547.1	37	c.521G>A	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288546	0.80914	.	.	ENSG00000204120	ENST00000373566;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000535418;ENST00000409196;ENST00000409451;ENST00000440945	T;T;T;T;T;T;T	0.78481	-0.82;-0.87;-0.82;-0.87;-0.95;-0.84;-1.18	5.71	4.84	0.62591	.	0.075338	0.56097	D	0.000036	D	0.87601	0.6218	M	0.77820	2.39	0.80722	D	1	D;B;D	0.89917	1.0;0.033;1.0	D;B;D	0.87578	0.998;0.013;0.986	D	0.88409	0.3020	10	0.52906	T	0.07	-10.9316	14.7936	0.69860	0.0693:0.0:0.9307:0.0	.	174;174;174	A6H8W4;Q6Y7W6;E9PBB0	.;PERQ2_HUMAN;.	Q	174	ENSP00000362667:R174Q;ENSP00000362664:R174Q;ENSP00000386765:R174Q;ENSP00000386537:R174Q;ENSP00000387070:R174Q;ENSP00000387170:R174Q;ENSP00000410297:R174Q	ENSP00000362664:R174Q	R	+	2	0	GIGYF2	233334379	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.614000	0.82996	1.438000	0.47492	0.580000	0.79431	CGA		0.378	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2		NM_001103146		14	28	0	0	0	0.00499	0	14	28		
GIGYF2	26058	broad.mit.edu	37	2	233651882	233651882	+	Silent	SNP	T	T	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:233651882T>G	ENST00000409547.1	+	11	866	c.555T>G	c.(553-555)ggT>ggG	p.G185G	GIGYF2_ENST00000409451.3_Silent_p.G207G|GIGYF2_ENST00000409480.1_Silent_p.G207G|GIGYF2_ENST00000409196.3_Silent_p.G185G|GIGYF2_ENST00000452341.2_Silent_p.G16G|GIGYF2_ENST00000373563.4_Silent_p.G185G|GIGYF2_ENST00000373566.3_Silent_p.G207G	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	185	Arg-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TTGAGGAAGGTGGACCAACAT	0.383																																						uc002vti.3		NaN																	0				ovary(4)|central_nervous_system(3)	7						c.(553-555)GGT>GGG		GRB10 interacting GYF protein 2 isoform b							84.0	87.0	86.0					2																	233651882		2203	4300	6503	SO:0001819	synonymous_variant	26058				cell death		protein binding	g.chr2:233651882T>G	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.555T>G	2.37:g.233651882T>G						GIGYF2_uc010zmj.1_Silent_p.G185G|GIGYF2_uc002vtg.2_Silent_p.G185G|GIGYF2_uc002vtj.3_Silent_p.G207G|GIGYF2_uc002vtk.3_Silent_p.G185G|GIGYF2_uc002vth.3_Silent_p.G185G|GIGYF2_uc010zmk.1_RNA|GIGYF2_uc010zml.1_Silent_p.G16G	p.G185G	NM_015575	NP_056390	Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	11	892	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	185			Arg-rich.		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Silent	SNP	ENST00000409547.1	37	c.555T>G	CCDS33401.1																																																																																				0.383	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2		NM_001103146		9	41	0	0	0	0.008291	0	9	41		
GIGYF2	26058	broad.mit.edu	37	2	233721509	233721509	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:233721509C>T	ENST00000409547.1	+	31	4150	c.3839C>T	c.(3838-3840)tCa>tTa	p.S1280L	GIGYF2_ENST00000409451.3_Missense_Mutation_p.S1301L|GIGYF2_ENST00000409480.1_Missense_Mutation_p.S1302L|GIGYF2_ENST00000409196.3_Missense_Mutation_p.S1274L|GIGYF2_ENST00000373563.4_Missense_Mutation_p.S1280L|GIGYF2_ENST00000373566.3_Missense_Mutation_p.S1302L	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	1280					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GCAGGATTTTCAGTCAATGCA	0.507																																						uc002vti.3		NaN																	0				ovary(4)|central_nervous_system(3)	7						c.(3838-3840)TCA>TTA		GRB10 interacting GYF protein 2 isoform b							147.0	139.0	142.0					2																	233721509		2203	4300	6503	SO:0001583	missense	26058				cell death		protein binding	g.chr2:233721509C>T	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.3839C>T	2.37:g.233721509C>T	ENSP00000386537:p.Ser1280Leu					GIGYF2_uc002vtj.3_Missense_Mutation_p.S1301L|GIGYF2_uc002vtk.3_Missense_Mutation_p.S1280L|GIGYF2_uc002vth.3_Missense_Mutation_p.S1274L|GIGYF2_uc010zmk.1_RNA|GIGYF2_uc002vtq.3_Missense_Mutation_p.S613L	p.S1280L	NM_015575	NP_056390	Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	31	4176	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	1280					A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	ENST00000409547.1	37	c.3839C>T	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.562387	0.86335	.	.	ENSG00000204120	ENST00000373566;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000409196;ENST00000409451	T;T;T;T;T;T	0.80480	-1.31;-1.38;-1.31;-1.38;-1.32;-1.37	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	D	0.89979	0.6872	M	0.80982	2.52	0.80722	D	1	D;D;D	0.57899	0.981;0.981;0.981	D;D;D	0.69824	0.966;0.95;0.95	D	0.91636	0.5323	10	0.87932	D	0	-7.0369	17.9312	0.88998	0.0:1.0:0.0:0.0	.	1301;1280;1274	A6H8W4;Q6Y7W6;E9PBB0	.;PERQ2_HUMAN;.	L	1302;1280;1302;1280;1274;1301	ENSP00000362667:S1302L;ENSP00000362664:S1280L;ENSP00000386765:S1302L;ENSP00000386537:S1280L;ENSP00000387070:S1274L;ENSP00000387170:S1301L	ENSP00000362664:S1280L	S	+	2	0	GIGYF2	233429753	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	6.999000	0.76283	2.202000	0.70862	0.585000	0.79938	TCA		0.507	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2		NM_001103146		32	66	0	0	0	0.003271	0	32	66		
DEFB127	140850	broad.mit.edu	37	20	139536	139536	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:139536C>T	ENST00000382388.3	+	2	246	c.171C>T	c.(169-171)atC>atT	p.I57I		NM_139074.3	NP_620713.1	Q9H1M4	DB127_HUMAN	defensin, beta 127	57					defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)	extracellular region (GO:0005576)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)	9		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			GCCTCAATATCAAGGAACTGG	0.393																																						uc002wcy.1		NaN																	0					0						c.(169-171)ATC>ATT		defensin, beta 127 preproprotein							105.0	91.0	96.0					20																	139536		2203	4300	6503	SO:0001819	synonymous_variant	140850				defense response to bacterium|innate immune response	extracellular region		g.chr20:139536C>T	AY358796	CCDS12991.1	20p13	2008-02-01	2002-05-09	2002-05-10	ENSG00000088782	ENSG00000088782		"""Defensins, beta"""	16206	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 73"""	C20orf73		11854508	Standard	NM_139074		Approved	bA530N10.2, DEF-27	uc002wcy.2	Q9H1M4	OTTHUMG00000031617	ENST00000382388.3:c.171C>T	20.37:g.139536C>T							p.I57I	NM_139074	NP_620713	Q9H1M4	DB127_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.122)		2	171	+		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	57					Q14DW7	Silent	SNP	ENST00000382388.3	37	c.171C>T	CCDS12991.1																																																																																				0.393	DEFB127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077429.1		NM_139074		12	14	0	0	0	0.003163	0	12	14		
ANGPT4	51378	broad.mit.edu	37	20	896835	896835	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:896835A>G	ENST00000381922.3	-	1	125	c.23T>C	c.(22-24)cTg>cCg	p.L8P	ANGPT4_ENST00000546022.1_Missense_Mutation_p.L8P	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	8					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GCTGCCCTGCAGCATGGCTAG	0.602																																					Pancreas(181;481 2077 3259 31286 49856)	uc002wei.2		NaN																	0				ovary(2)	2						c.(22-24)CTG>CCG		angiopoietin 4 precursor							69.0	63.0	65.0					20																	896835		2203	4300	6503	SO:0001583	missense	51378				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr20:896835A>G	AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"""Fibrinogen C domain containing"""	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.23T>C	20.37:g.896835A>G	ENSP00000371347:p.Leu8Pro					ANGPT4_uc010zpn.1_Missense_Mutation_p.L2P	p.L8P	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN			1	126	-			8					B4E3J9|Q5TFF4|Q9H4Z4	Missense_Mutation	SNP	ENST00000381922.3	37	c.23T>C	CCDS13009.1	.	.	.	.	.	.	.	.	.	.	A	10.07	1.248394	0.22880	.	.	ENSG00000101280	ENST00000381922;ENST00000546022	T;T	0.55930	0.49;1.28	4.27	3.08	0.35506	.	0.769297	0.10393	N	0.680237	T	0.64216	0.2578	L	0.58101	1.795	0.53005	D	0.999968	D;D	0.76494	0.999;0.998	D;P	0.68192	0.956;0.863	T	0.63269	-0.6675	10	0.59425	D	0.04	.	6.5385	0.22367	0.7854:0.0:0.0:0.2146	.	8;8	B4E3J9;Q9Y264	.;ANGP4_HUMAN	P	8	ENSP00000371347:L8P;ENSP00000439605:L8P	ENSP00000371347:L8P	L	-	2	0	ANGPT4	844835	0.061000	0.20836	0.955000	0.39395	0.024000	0.10985	0.224000	0.17738	1.925000	0.55765	0.254000	0.18369	CTG		0.602	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1		NM_015985		17	42	0	0	0	0.010504	0	17	42		
SDCBP2	27111	broad.mit.edu	37	20	1291531	1291531	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:1291531T>C	ENST00000360779.3	-	8	910	c.737A>G	c.(736-738)aAa>aGa	p.K246R	SDCBP2_ENST00000467129.1_5'UTR|SDCBP2_ENST00000381808.3_Missense_Mutation_p.K161R|SDCBP2_ENST00000381812.1_Missense_Mutation_p.K246R|SDCBP2_ENST00000339987.3_Missense_Mutation_p.K246R	NM_080489.4	NP_536737.3	Q9H190	SDCB2_HUMAN	syndecan binding protein (syntenin) 2	246	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	7						CATGATCTTTTTGTCCTAGGG	0.552																																						uc002wev.3		NaN																	0				large_intestine(1)|skin(1)	2						c.(736-738)AAA>AGA		syndecan binding protein 2 isoform a							128.0	109.0	115.0					20																	1291531		2203	4300	6503	SO:0001583	missense	27111				intracellular signal transduction|intracellular transport|nervous system development	cytoplasm	protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity	g.chr20:1291531T>C	AF131809	CCDS13013.1, CCDS42848.1	20p13	2008-07-02			ENSG00000125775	ENSG00000125775			15756	protein-coding gene	gene with protein product						11152476	Standard	NM_080489		Approved	ST-2, SITAC18	uc021vzn.1	Q9H190	OTTHUMG00000031661	ENST00000360779.3:c.737A>G	20.37:g.1291531T>C	ENSP00000354013:p.Lys246Arg					SDCBP2_uc002weu.3_Missense_Mutation_p.K161R	p.K246R	NM_080489	NP_536737	Q9H190	SDCB2_HUMAN			8	866	-			246			PDZ 2.		O95892|Q5W0X1|Q9BZ42|Q9H567|Q9NRY8	Missense_Mutation	SNP	ENST00000360779.3	37	c.737A>G	CCDS42848.1	.	.	.	.	.	.	.	.	.	.	T	10.23	1.291936	0.23564	.	.	ENSG00000125775	ENST00000381812;ENST00000381808;ENST00000360779;ENST00000339987	T;T;T;T	0.27104	1.69;1.69;1.69;1.69	4.56	4.56	0.56223	PDZ/DHR/GLGF (4);	0.142346	0.47093	D	0.000247	T	0.36663	0.0975	M	0.86502	2.82	0.27878	N	0.939804	B	0.22003	0.063	B	0.27262	0.078	T	0.38693	-0.9649	10	0.56958	D	0.05	-2.0827	11.53	0.50604	0.0:0.0:0.0:1.0	.	246	Q9H190	SDCB2_HUMAN	R	246;161;246;246	ENSP00000371233:K246R;ENSP00000371229:K161R;ENSP00000354013:K246R;ENSP00000342935:K246R	ENSP00000342935:K246R	K	-	2	0	SDCBP2	1239531	1.000000	0.71417	0.988000	0.46212	0.051000	0.14879	3.441000	0.52893	1.917000	0.55516	0.459000	0.35465	AAA		0.552	SDCBP2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077513.2		NM_080489		9	20	0	0	0	0.004482	0	9	20		
RASSF2	9770	broad.mit.edu	37	20	4778713	4778713	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:4778713A>T	ENST00000379400.3	-	4	273	c.78T>A	c.(76-78)caT>caA	p.H26Q	RASSF2_ENST00000478553.1_5'Flank|RASSF2_ENST00000379376.2_Missense_Mutation_p.H26Q	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	26					bone remodeling (GO:0046849)|cell cycle (GO:0007049)|epidermal growth factor receptor signaling pathway via I-kappaB kinase/NF-kappaB cascade (GO:0038168)|homeostasis of number of cells (GO:0048872)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|ossification (GO:0001503)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						AGGTCTTCAGATGCAAGAGAA	0.473																																					Melanoma(158;1891 3343 50738)	uc002wld.2		NaN																	0				ovary(3)|lung(2)|large_intestine(1)	6						c.(76-78)CAT>CAA		Ras association domain family 2							103.0	103.0	103.0					20																	4778713		2203	4300	6503	SO:0001583	missense	9770				cell cycle|signal transduction	nucleus	protein binding	g.chr20:4778713A>T	D79990	CCDS13083.1	20p13	2011-08-12	2008-02-22		ENSG00000101265	ENSG00000101265			9883	protein-coding gene	gene with protein product	"""centromere protein 34"""	609492				8724849, 15806169	Standard	NM_014737		Approved	KIAA0168, CENP-34	uc002wld.3	P50749	OTTHUMG00000031790	ENST00000379400.3:c.78T>A	20.37:g.4778713A>T	ENSP00000368710:p.His26Gln					RASSF2_uc002wlc.2_5'Flank|RASSF2_uc002wle.2_RNA|RASSF2_uc002wlf.2_Missense_Mutation_p.H26Q	p.H26Q	NM_170774	NP_739580	P50749	RASF2_HUMAN			3	132	-			26					A6NIX9|A8K5Z3|Q17S06|Q53HD0|Q6AHZ2|Q8IZA5	Missense_Mutation	SNP	ENST00000379400.3	37	c.78T>A	CCDS13083.1	.	.	.	.	.	.	.	.	.	.	A	13.34	2.208234	0.39003	.	.	ENSG00000101265	ENST00000379400;ENST00000379376	T;T	0.71579	-0.58;-0.58	4.87	-2.77	0.05877	.	0.152829	0.64402	N	0.000014	T	0.63224	0.2493	M	0.79475	2.455	0.46798	D	0.999207	B	0.15930	0.015	B	0.20955	0.032	T	0.46803	-0.9165	10	0.25751	T	0.34	.	7.9598	0.30064	0.3722:0.1292:0.4986:0.0	.	26	P50749	RASF2_HUMAN	Q	26	ENSP00000368710:H26Q;ENSP00000368684:H26Q	ENSP00000368684:H26Q	H	-	3	2	RASSF2	4726713	0.997000	0.39634	0.976000	0.42696	0.946000	0.59487	0.527000	0.22987	-0.518000	0.06452	0.374000	0.22700	CAT		0.473	RASSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077828.1		NM_014737		17	40	0	0	0	0.012319	0	17	40		
MCM8	84515	broad.mit.edu	37	20	5966679	5966679	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:5966679C>T	ENST00000378896.3	+	16	2442	c.2065C>T	c.(2065-2067)Ctt>Ttt	p.L689F	MCM8_ENST00000378883.1_Missense_Mutation_p.L642F|MCM8_ENST00000265187.4_Missense_Mutation_p.L673F|MCM8_ENST00000378886.2_Missense_Mutation_p.L729F	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	689					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						TGCTCGAGTTCTTCAAGATTT	0.463																																						uc002wmi.2		NaN																	0				skin(1)	1						c.(2065-2067)CTT>TTT		minichromosome maintenance complex component 8							114.0	106.0	109.0					20																	5966679		2203	4300	6503	SO:0001583	missense	84515				cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr20:5966679C>T	AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"""REC homolog (Drosophila)"""	608187	"""chromosome 20 open reading frame 154"""	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.2065C>T	20.37:g.5966679C>T	ENSP00000368174:p.Leu689Phe					MCM8_uc002wmj.2_Missense_Mutation_p.L673F|MCM8_uc002wmk.2_Missense_Mutation_p.L729F|MCM8_uc002wml.2_Missense_Mutation_p.L689F|MCM8_uc010gbp.2_Missense_Mutation_p.L642F|MCM8_uc002wmm.2_Missense_Mutation_p.L227F	p.L689F	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN			16	2442	+			689					B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Missense_Mutation	SNP	ENST00000378896.3	37	c.2065C>T	CCDS13094.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.161720	0.78226	.	.	ENSG00000125885	ENST00000378896;ENST00000378883;ENST00000378886;ENST00000265187	T;T;T;T	0.11385	2.78;2.78;2.78;2.78	5.65	5.65	0.86999	.	0.060548	0.64402	D	0.000002	T	0.43188	0.1236	M	0.88377	2.95	0.80722	D	1	D;D;D;D	0.89917	1.0;0.995;0.974;1.0	D;D;P;D	0.83275	0.993;0.967;0.843;0.996	T	0.44636	-0.9315	10	0.66056	D	0.02	-17.89	20.0965	0.97849	0.0:1.0:0.0:0.0	.	642;729;673;689	Q9UJA3-2;E7EQU7;Q9UJA3-3;Q9UJA3	.;.;.;MCM8_HUMAN	F	689;642;729;673	ENSP00000368174:L689F;ENSP00000368161:L642F;ENSP00000368164:L729F;ENSP00000265187:L673F	ENSP00000265187:L673F	L	+	1	0	MCM8	5914679	1.000000	0.71417	1.000000	0.80357	0.644000	0.38419	5.892000	0.69790	2.824000	0.97209	0.655000	0.94253	CTT		0.463	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1		NM_032485		25	39	0	0	0	0.004656	0	25	39		
LRRN4	164312	broad.mit.edu	37	20	6025248	6025248	+	Silent	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:6025248G>C	ENST00000378858.4	-	4	1163	c.939C>G	c.(937-939)ctC>ctG	p.L313L		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	313					long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						AACTGCAAGTGAGGGGGTTGC	0.483																																						uc002wmo.2		NaN																	0				skin(3)	3						c.(937-939)CTC>CTG		leucine rich repeat neuronal 4 precursor							60.0	56.0	57.0					20																	6025248		2203	4300	6503	SO:0001819	synonymous_variant	164312					integral to membrane		g.chr20:6025248G>C	AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"""Fibronectin type III domain containing"""	16208	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 75"""	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.939C>G	20.37:g.6025248G>C							p.L313L	NM_152611	NP_689824	Q8WUT4	LRRN4_HUMAN			4	1163	-			313			Extracellular (Potential).		A8K258|Q5JWV6|Q9H419	Silent	SNP	ENST00000378858.4	37	c.939C>G	CCDS13097.1																																																																																				0.483	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077907.2		NM_152611		5	14	0	0	0	0.000602	0	5	14		
ESF1	51575	broad.mit.edu	37	20	13756530	13756530	+	Missense_Mutation	SNP	G	G	A	rs572143127		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:13756530G>A	ENST00000202816.1	-	3	1131	c.1024C>T	c.(1024-1026)Cgt>Tgt	p.R342C		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	342					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TCATCAGCACGAGGAGCATCT	0.368													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21029	0.0		0.0	False		,,,				2504	0.0					uc002woj.2		NaN																	0				ovary(1)	1						c.(1024-1026)CGT>TGT		ABT1-associated protein							110.0	108.0	109.0					20																	13756530		2203	4300	6503	SO:0001583	missense	51575				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm		g.chr20:13756530G>A		CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 6"""	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.1024C>T	20.37:g.13756530G>A	ENSP00000202816:p.Arg342Cys					ESF1_uc002wok.1_Missense_Mutation_p.R342C	p.R342C	NM_016649	NP_057733	Q9H501	ESF1_HUMAN			3	1132	-			342					Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Missense_Mutation	SNP	ENST00000202816.1	37	c.1024C>T	CCDS13117.1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.298083	0.40694	.	.	ENSG00000089048	ENST00000202816	T	0.78707	-1.2	5.42	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.75079	0.3801	M	0.63428	1.95	0.80722	D	1	B	0.13594	0.008	B	0.09377	0.004	T	0.73049	-0.4105	10	0.54805	T	0.06	.	14.3671	0.66812	0.0722:0.0:0.9278:0.0	.	342	Q9H501	ESF1_HUMAN	C	342	ENSP00000202816:R342C	ENSP00000202816:R342C	R	-	1	0	ESF1	13704530	1.000000	0.71417	0.999000	0.59377	0.635000	0.38103	7.461000	0.80834	1.441000	0.47550	-0.143000	0.13931	CGT		0.368	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1		NM_016649		33	41	0	0	0	0.009535	0	33	41		
CRNKL1	51340	broad.mit.edu	37	20	20020280	20020280	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:20020280G>A	ENST00000377340.2	-	12	2032	c.2001C>T	c.(1999-2001)atC>atT	p.I667I	CRNKL1_ENST00000377327.4_Silent_p.I655I|CRNKL1_ENST00000521379.1_5'Flank|CRNKL1_ENST00000536226.1_Silent_p.I506I	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	667					mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						GTGGCTGACTGATGGCTAATT	0.378																																						uc002wrs.2		NaN																	0				ovary(2)|large_intestine(1)	3						c.(1999-2001)ATC>ATT		crooked neck-like 1 protein							127.0	119.0	122.0					20																	20020280		2203	4300	6503	SO:0001819	synonymous_variant	51340				spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding	g.chr20:20020280G>A	AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"""SYF3 pre-mRNA-splicing factor"""	610952	"""crooked neck (Drosophila Crn homolog)-like 1"", ""Crn, crooked neck-like 1 (Drosophila)"", ""crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"""				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.2001C>T	20.37:g.20020280G>A							p.I667I	NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN			12	2033	-			667			HAT 13.		A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Silent	SNP	ENST00000377340.2	37	c.2001C>T	CCDS33446.1																																																																																				0.378	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000127787.1				24	67	0	0	0	0.00278	0	24	67		
RALGAPA2	57186	broad.mit.edu	37	20	20493296	20493296	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:20493296C>T	ENST00000202677.7	-	32	4724	c.4717G>A	c.(4717-4719)Gag>Aag	p.E1573K		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1573					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TGGATATACTCATCCTCTTGA	0.468																																						uc002wrz.2		NaN																	0				ovary(1)	1						c.(4717-4719)GAG>AAG		akt substrate AS250							120.0	115.0	116.0					20																	20493296		1947	4143	6090	SO:0001583	missense	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20493296C>T	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.4717G>A	20.37:g.20493296C>T	ENSP00000202677:p.Glu1573Lys					RALGAPA2_uc010gcx.2_Missense_Mutation_p.E1277K|RALGAPA2_uc010zsg.1_Missense_Mutation_p.E1021K|RALGAPA2_uc002wsa.1_Missense_Mutation_p.E345K	p.E1573K	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN			32	4860	-			1573					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	c.4717G>A	CCDS46584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.25|15.25	2.778179|2.778179	0.49786|0.49786	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000417022;ENST00000202677|ENST00000430436	D;D|.	0.96459|.	-4.02;-3.42|.	5.97|5.97	5.97|5.97	0.96955|0.96955	.|.	0.219908|.	0.46145|.	D|.	0.000301|.	T|T	0.68851|0.68851	0.3046|0.3046	L|L	0.52364|0.52364	1.645|1.645	0.46564|0.46564	D|D	0.999101|0.999101	B;B;B|.	0.15719|.	0.005;0.014;0.005|.	B;B;B|.	0.18263|.	0.021;0.009;0.014|.	T|T	0.64466|0.64466	-0.6401|-0.6401	10|5	0.32370|.	T|.	0.25|.	.|.	15.8643|15.8643	0.79052|0.79052	0.0:0.8652:0.1348:0.0|0.0:0.8652:0.1348:0.0	.|.	1411;1573;1573|.	A8MSM5;Q2PPJ7-2;Q2PPJ7|.	.;.;RGPA2_HUMAN|.	K|I	3;1573|1389	ENSP00000408332:E3K;ENSP00000202677:E1573K|.	ENSP00000202677:E1573K|.	E|M	-|-	1|3	0|0	RALGAPA2|RALGAPA2	20441296|20441296	0.991000|0.991000	0.36638|0.36638	0.063000|0.063000	0.19743|0.19743	0.908000|0.908000	0.53690|0.53690	3.023000|3.023000	0.49666|0.49666	2.838000|2.838000	0.97847|0.97847	0.561000|0.561000	0.74099|0.74099	GAG|ATG		0.468	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1		NM_020343		5	51	0	0	0	0.001168	0	5	51		
NAPB	63908	broad.mit.edu	37	20	23375803	23375803	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:23375803A>G	ENST00000377026.4	-	4	400	c.315T>C	c.(313-315)aaT>aaC	p.N105N	NAPB_ENST00000398425.3_Intron|NAPB_ENST00000472855.1_Intron|NAPB_ENST00000432543.2_Silent_p.N66N	NM_001283018.1|NM_001283020.1|NM_022080.2	NP_001269947.1|NP_001269949.1|NP_071363.1	Q9H115	SNAB_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, beta	105					intracellular protein transport (GO:0006886)|regulation of synaptic vesicle priming (GO:0010807)|SNARE complex disassembly (GO:0035494)|synaptic transmission, glutamatergic (GO:0035249)	extracellular vesicular exosome (GO:0070062)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)				endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12	Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143)					CGATGGCTGCATTTAAGCAGT	0.428																																						uc002wta.2		NaN																	0				ovary(1)	1						c.(313-315)AAT>AAC		N-ethylmaleimide-sensitive factor attachment							118.0	102.0	108.0					20																	23375803		2203	4300	6503	SO:0001819	synonymous_variant	63908				intracellular protein transport|vesicle-mediated transport	membrane		g.chr20:23375803A>G	AK022817	CCDS13152.1, CCDS63241.1, CCDS63242.1, CCDS74710.1	20p12.3-p11.21	2008-08-01			ENSG00000125814	ENSG00000125814			15751	protein-coding gene	gene with protein product		611270				8455721	Standard	NM_022080		Approved	SNAP-BETA, SNAPB	uc002wta.3	Q9H115	OTTHUMG00000032062	ENST00000377026.4:c.315T>C	20.37:g.23375803A>G						NAPB_uc002wtc.2_Intron|NAPB_uc002wtb.2_Silent_p.N109N|NAPB_uc002wtd.3_Intron|NAPB_uc010zss.1_5'UTR|NAPB_uc010zst.1_Silent_p.N66N	p.N105N	NM_022080	NP_071363	Q9H115	SNAB_HUMAN			4	432	-	Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143)		105					B4DK44|Q4G0M0|Q4G187|Q5JXF9|Q8N3C4	Silent	SNP	ENST00000377026.4	37	c.315T>C	CCDS13152.1																																																																																				0.428	NAPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078317.2		NM_022080		12	17	0	0	0	0.001855	0	12	17		
CST4	1472	broad.mit.edu	37	20	23669392	23669392	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:23669392C>T	ENST00000217423.3	-	1	285	c.215G>A	c.(214-216)cGa>cAa	p.R72Q		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	72					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					CTCCCTGGCTCGCAGCACCTG	0.597																																						uc002wto.1		NaN																	0				breast(1)	1						c.(214-216)CGA>CAA		cystatin S precursor							76.0	71.0	73.0					20																	23669392		2203	4300	6503	SO:0001583	missense	1472					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23669392C>T		CCDS13159.1	20p11.2	2008-04-15			ENSG00000101441	ENSG00000101441			2476	protein-coding gene	gene with protein product		123857				1801729	Standard	NM_001899		Approved		uc002wto.1	P01036	OTTHUMG00000032083	ENST00000217423.3:c.215G>A	20.37:g.23669392C>T	ENSP00000217423:p.Arg72Gln						p.R72Q	NM_001899	NP_001890	P01036	CYTS_HUMAN			1	271	-	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)		72					Q9UBI5|Q9UCS9	Missense_Mutation	SNP	ENST00000217423.3	37	c.215G>A	CCDS13159.1	.	.	.	.	.	.	.	.	.	.	C	5.380	0.255284	0.10185	.	.	ENSG00000101441	ENST00000217423	T	0.15372	2.43	1.91	0.907	0.19321	Proteinase inhibitor I25, cystatin (2);	0.767159	0.12098	N	0.499756	T	0.15522	0.0374	M	0.64260	1.97	0.09310	N	1	B	0.24882	0.113	B	0.21360	0.034	T	0.24693	-1.0153	10	0.41790	T	0.15	.	4.4249	0.11498	0.0:0.78:0.0:0.22	.	72	P01036	CYTS_HUMAN	Q	72	ENSP00000217423:R72Q	ENSP00000217423:R72Q	R	-	2	0	CST4	23617392	0.000000	0.05858	0.002000	0.10522	0.000000	0.00434	-0.101000	0.10973	0.119000	0.18210	-0.436000	0.05848	CGA		0.597	CST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078349.2		NM_001899		9	43	0	0	0	0.004482	0	9	43		
VSX1	30813	broad.mit.edu	37	20	25059543	25059543	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:25059543G>T	ENST00000376709.4	-	3	812	c.549C>A	c.(547-549)ttC>ttA	p.F183L	VSX1_ENST00000444511.2_Missense_Mutation_p.F183L|VSX1_ENST00000451258.1_Missense_Mutation_p.F183L|VSX1_ENST00000376707.3_Missense_Mutation_p.F183L|VSX1_ENST00000424574.1_Missense_Mutation_p.F183L|VSX1_ENST00000429762.3_Missense_Mutation_p.F183L	NM_014588.5	NP_055403.2	Q9NZR4	VSX1_HUMAN	visual system homeobox 1	183					neuron maturation (GO:0042551)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(3)|lung(2)	6						GGGCCTCGCTGAATGCCTTCT	0.567																																						uc002wuf.2		NaN																	0					0						c.(547-549)TTC>TTA		visual system homeobox 1 isoform a							106.0	106.0	106.0					20																	25059543		2203	4300	6503	SO:0001583	missense	30813				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:25059543G>T	AF176797	CCDS13168.1, CCDS13169.1, CCDS58766.1, CCDS58767.1	20p11.21	2014-02-14	2007-07-12		ENSG00000100987	ENSG00000100987		"""Homeoboxes / PRD class"""	12723	protein-coding gene	gene with protein product		605020	"""posterior polymorphous corneal dystrophy"", ""visual system homeobox 1 homolog, CHX10-like (zebrafish)"""	PPCD		10673340	Standard	NM_001256272		Approved	PPD, PPCD1	uc002wuf.4	Q9NZR4	OTTHUMG00000032111	ENST00000376709.4:c.549C>A	20.37:g.25059543G>T	ENSP00000365899:p.Phe183Leu					VSX1_uc002wue.2_RNA|VSX1_uc010gdd.1_Missense_Mutation_p.F183L|VSX1_uc010gde.1_RNA|VSX1_uc010gdf.1_Missense_Mutation_p.F183L|VSX1_uc002wug.1_Missense_Mutation_p.F183L	p.F183L	NM_014588	NP_055403	Q9NZR4	VSX1_HUMAN			3	584	-			183			Homeobox.		B9EGJ4|D1MF28|Q0GM60|Q0GM61|Q0GM62|Q0GM63|Q0GM64|Q0GM65|Q5TF40|Q5TF41|Q9HCU3|Q9NU27	Missense_Mutation	SNP	ENST00000376709.4	37	c.549C>A	CCDS13168.1	.	.	.	.	.	.	.	.	.	.	G	19.06	3.754787	0.69648	.	.	ENSG00000100987	ENST00000429762;ENST00000444511;ENST00000424574;ENST00000451258;ENST00000376709;ENST00000376707	D;D;D;D;D;D	0.99399	-5.83;-5.83;-5.83;-5.83;-5.83;-5.83	5.28	2.25	0.28309	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.104145	0.64402	D	0.000002	D	0.99569	0.9845	H	0.96489	3.83	0.80722	D	1	D;D;D;P	0.76494	0.999;0.998;0.999;0.94	D;D;D;P	0.85130	0.997;0.978;0.994;0.868	D	0.99229	1.0881	10	0.87932	D	0	.	7.4735	0.27363	0.3507:0.0:0.6493:0.0	.	183;183;183;183	Q9NZR4-7;Q9NZR4-8;Q9NZR4-2;Q9NZR4	.;.;.;VSX1_HUMAN	L	183	ENSP00000401690:F183L;ENSP00000387720:F183L;ENSP00000399496:F183L;ENSP00000389654:F183L;ENSP00000365899:F183L;ENSP00000365897:F183L	ENSP00000365897:F183L	F	-	3	2	VSX1	25007543	1.000000	0.71417	0.390000	0.26220	0.889000	0.51656	2.011000	0.40922	0.218000	0.20820	-0.258000	0.10820	TTC		0.567	VSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078384.3				33	50	1	0	1.62565e-12	0.012213	1.74076e-12	33	50		
ZNF337	26152	broad.mit.edu	37	20	25657489	25657489	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:25657489C>T	ENST00000376436.1	-	4	974	c.435G>A	c.(433-435)agG>agA	p.R145R	ZNF337_ENST00000252979.5_Silent_p.R145R|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000421829.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000538750.1_Silent_p.R113R|RP4-694B14.5_ENST00000428254.1_RNA|ZNF337_ENST00000481610.1_5'Flank|RP4-694B14.5_ENST00000414393.1_RNA			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	145					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(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CACTGTTCCTCCTCCTTGAGC	0.443																																						uc002wva.2		NaN																	0					0						c.(433-435)AGG>AGA		zinc finger protein 337							197.0	188.0	191.0					20																	25657489		2203	4300	6503	SO:0001819	synonymous_variant	26152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:25657489C>T		CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"""Zinc fingers, C2H2-type"", ""-"""	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.435G>A	20.37:g.25657489C>T						uc002wuz.2_RNA|ZNF337_uc010ztg.1_Silent_p.R113R|ZNF337_uc002wvb.2_Silent_p.R145R|ZNF337_uc002wvc.2_Silent_p.R145R	p.R145R	NM_015655	NP_056470	Q9Y3M9	ZN337_HUMAN			4	957	-			145					B4DSM2|Q9Y3Y5	Silent	SNP	ENST00000376436.1	37	c.435G>A	CCDS13174.1																																																																																				0.443	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1				31	144	0	0	0	0.004289	0	31	144		
ID1	3397	broad.mit.edu	37	20	30193214	30193214	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:30193214C>T	ENST00000376112.3	+	1	129	c.24C>T	c.(22-24)acC>acT	p.T8T	ID1_ENST00000376105.3_Silent_p.T8T|MIR3193_ENST00000578262.1_RNA	NM_002165.3	NP_002156.2	P41134	ID1_HUMAN	inhibitor of DNA binding 1, dominant negative helix-loop-helix protein	8					angiogenesis (GO:0001525)|blood vessel endothelial cell migration (GO:0043534)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|collagen metabolic process (GO:0032963)|endothelial cell morphogenesis (GO:0001886)|heart development (GO:0007507)|lung morphogenesis (GO:0060425)|lung vasculature development (GO:0060426)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein destabilization (GO:0031648)|regulation of angiogenesis (GO:0045765)|regulation of MAPK cascade (GO:0043408)|response to antibiotic (GO:0046677)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|ovary(1)|pancreas(1)	4	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.99e-05)|all cancers(5;0.000169)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			GTGGCAGCACCGCCACCGCCG	0.622																																					NSCLC(123;1618 1779 21803 28680 33854)	uc002wwg.1		NaN																	0				ovary(1)	1						c.(22-24)ACC>ACT		inhibitor of DNA binding 1 isoform a							12.0	16.0	15.0					20																	30193214		1764	3743	5507	SO:0001819	synonymous_variant	3397				angiogenesis|blood vessel endothelial cell migration|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by transcription factor localization|transforming growth factor beta receptor signaling pathway	cytoplasm	protein binding	g.chr20:30193214C>T		CCDS13185.1, CCDS13186.1	20q11	2013-05-21			ENSG00000125968	ENSG00000125968		"""Basic helix-loop-helix proteins"""	5360	protein-coding gene	gene with protein product	"""DNA-binding protein inhibitor ID-1"""	600349				8294468	Standard	NM_002165		Approved	dJ857M17.1.2, bHLHb24	uc002wwg.2	P41134	OTTHUMG00000032181	ENST00000376112.3:c.24C>T	20.37:g.30193214C>T						ID1_uc002wwh.1_Silent_p.T8T|hsa-mir-3193|MI0014238_5'Flank	p.T8T	NM_002165	NP_002156	P41134	ID1_HUMAN	Epithelial(4;1.99e-05)|all cancers(5;0.000169)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)		1	123	+	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		8					A8K537|E1P5L4|O00651|O00652|Q16371|Q16377|Q5TE66|Q5TE67|Q969Z7|Q9H0Z5|Q9H109	Silent	SNP	ENST00000376112.3	37	c.24C>T	CCDS13185.1																																																																																				0.622	ID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078550.1		NM_002165		14	29	0	0	0	0.006122	0	14	29		
NFS1	9054	broad.mit.edu	37	20	34286483	34286483	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:34286483G>A	ENST00000374092.4	-	2	197	c.127C>T	c.(127-129)Ccc>Tcc	p.P43S	NFS1_ENST00000540053.1_5'UTR|ROMO1_ENST00000374078.1_5'Flank|ROMO1_ENST00000397416.1_5'Flank|NFS1_ENST00000374085.1_5'UTR|ROMO1_ENST00000374077.3_5'Flank|NFS1_ENST00000541387.1_Missense_Mutation_p.P43S|NFS1_ENST00000306750.3_Missense_Mutation_p.P43S|ROMO1_ENST00000374072.1_5'Flank|NFS1_ENST00000397425.1_5'UTR|ROMO1_ENST00000336695.4_5'Flank	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	NFS1 cysteine desulfurase	43					cysteine metabolic process (GO:0006534)|iron incorporation into metallo-sulfur cluster (GO:0018283)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|protein complex assembly (GO:0006461)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine desulfurase activity (GO:0031071)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)	GTATCTGCGGGAACCGCAGAC	0.542																																						uc002xdw.1		NaN																	0				ovary(1)|skin(1)	2						c.(127-129)CCC>TCC		NFS1 nitrogen fixation 1 precursor	L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)						40.0	44.0	43.0					20																	34286483		2203	4300	6503	SO:0001583	missense	9054				cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr20:34286483G>A	AF097025	CCDS13262.1, CCDS56185.1	20q11.22	2013-08-06	2013-08-06		ENSG00000244005	ENSG00000244005	2.8.1.7		15910	protein-coding gene	gene with protein product		603485	"""nitrogen fixation 1 (S. cerevisiae, homolog)"", ""NFS1 nitrogen fixation 1 homolog (S. cerevisiae)"""			9885568, 16847322	Standard	NM_021100		Approved	NifS, IscS	uc002xdw.2	Q9Y697	OTTHUMG00000032361	ENST00000374092.4:c.127C>T	20.37:g.34286483G>A	ENSP00000363205:p.Pro43Ser					NFS1_uc002xdt.1_5'UTR|NFS1_uc002xdu.1_5'UTR|NFS1_uc002xdv.1_RNA|NFS1_uc010zvk.1_5'UTR|NFS1_uc010zvl.1_Missense_Mutation_p.P43S|NFS1_uc002xdx.2_Missense_Mutation_p.P43S|ROMO1_uc002xdy.2_5'Flank|ROMO1_uc010gfm.2_5'Flank	p.P43S	NM_021100	NP_066923	Q9Y697	NFS1_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0886)		2	191	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		43					B3KMA5|B4DXK9|E1P5R8|F5GYK5|Q6P0L8|Q9NTZ5|Q9Y481	Missense_Mutation	SNP	ENST00000374092.4	37	c.127C>T	CCDS13262.1	.	.	.	.	.	.	.	.	.	.	G	8.970	0.972631	0.18736	.	.	ENSG00000244005	ENST00000374092;ENST00000541387;ENST00000537772;ENST00000306750	T;T;T	0.32988	1.97;1.87;1.43	4.99	1.84	0.25277	.	0.604069	0.17668	N	0.166069	T	0.10809	0.0264	N	0.08118	0	0.43555	D	0.995868	B;P;B	0.37158	0.004;0.585;0.0	B;B;B	0.28916	0.022;0.096;0.001	T	0.14980	-1.0453	10	0.13108	T	0.6	26.3778	7.2822	0.26318	0.0906:0.3256:0.5838:0.0	.	43;43;43	F5GYK5;Q8WV90;Q9Y697	.;.;NFS1_HUMAN	S	43	ENSP00000363205:P43S;ENSP00000440897:P43S;ENSP00000304740:P43S	ENSP00000304740:P43S	P	-	1	0	NFS1	33749897	0.866000	0.29940	0.550000	0.28217	0.008000	0.06430	1.064000	0.30579	0.671000	0.31185	0.563000	0.77884	CCC		0.542	NFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078936.4		NM_021100		15	54	0	0	0	0.00499	0	15	54		
PHF20	51230	broad.mit.edu	37	20	34459579	34459579	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:34459579G>A	ENST00000374012.3	+	9	1239	c.1110G>A	c.(1108-1110)ttG>ttA	p.L370L	PHF20_ENST00000481202.1_3'UTR|PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	370					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					TAGGTCAGTTGAAGTCTGCTT	0.453																																						uc002xek.1		NaN																	0				ovary(1)	1						c.(1108-1110)TTG>TTA		PHD finger protein 20							84.0	87.0	86.0					20																	34459579		2203	4300	6503	SO:0001819	synonymous_variant	51230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding	g.chr20:34459579G>A	AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	16098	protein-coding gene	gene with protein product	"""tudor domain containing 20A"""	610335	"""chromosome 20 open reading frame 104"""	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.1110G>A	20.37:g.34459579G>A						PHF20_uc002xei.1_Silent_p.L370L|PHF20_uc010gfo.1_Silent_p.L370L|PHF20_uc002xej.1_Silent_p.L254L	p.L370L	NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN			9	1221	+	Breast(12;0.00631)|all_lung(11;0.0145)		370					A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Silent	SNP	ENST00000374012.3	37	c.1110G>A	CCDS13268.1																																																																																				0.453	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2		NM_016436		57	72	0	0	0	0.01441	0	57	72		
PPP1R16B	26051	broad.mit.edu	37	20	37547047	37547047	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:37547047T>C	ENST00000299824.1	+	11	1631	c.1442T>C	c.(1441-1443)cTg>cCg	p.L481P	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.L439P	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	481					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CAGACGCTTCTGGAGCTGAAG	0.647																																						uc002xje.2		NaN																	0				upper_aerodigestive_tract(1)|kidney(1)|skin(1)	3						c.(1441-1443)CTG>CCG		protein phosphatase 1 regulatory inhibitor							44.0	46.0	45.0					20																	37547047		2203	4300	6503	SO:0001583	missense	26051				regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	g.chr20:37547047T>C	AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	15850	protein-coding gene	gene with protein product	"""TGF-beta-inhibited membrane-associated protein"", ""ankyrin repeat domain protein 4"""	613275	"""protein phosphatase 1, regulatory (inhibitor) subunit 16B"""			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.1442T>C	20.37:g.37547047T>C	ENSP00000299824:p.Leu481Pro					PPP1R16B_uc010ggc.2_Missense_Mutation_p.L439P	p.L481P	NM_015568	NP_056383	Q96T49	PP16B_HUMAN			11	1631	+		Myeloproliferative disorder(115;0.00878)	481					A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Missense_Mutation	SNP	ENST00000299824.1	37	c.1442T>C	CCDS13309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.40|15.40	2.821813|2.821813	0.50633|0.50633	.|.	.|.	ENSG00000101445|ENSG00000101445	ENST00000299824;ENST00000373331|ENST00000438192	T;T|.	0.70749|.	-0.31;-0.51|.	5.2|5.2	4.08|4.08	0.47627|0.47627	.|.	0.069091|.	0.64402|.	D|.	0.000011|.	T|T	0.24470|0.24470	0.0593|0.0593	N|N	0.08118|0.08118	0|0	0.49798|0.49798	D|D	0.999826|0.999826	B;B|.	0.31290|.	0.318;0.203|.	B;B|.	0.24394|.	0.04;0.053|.	T|T	0.08534|0.08534	-1.0717|-1.0717	10|5	0.41790|.	T|.	0.15|.	.|.	3.1748|3.1748	0.06565|0.06565	0.0:0.2796:0.0:0.7204|0.0:0.2796:0.0:0.7204	.|.	439;481|.	E9PFS8;Q96T49|.	.;PP16B_HUMAN|.	P|R	481;439|382	ENSP00000299824:L481P;ENSP00000362428:L439P|.	ENSP00000299824:L481P|.	L|W	+|+	2|1	0|0	PPP1R16B|PPP1R16B	36980461|36980461	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	5.119000|5.119000	0.64679|0.64679	1.957000|1.957000	0.56846|0.56846	0.533000|0.533000	0.62120|0.62120	CTG|TGG		0.647	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2		NM_015568		31	50	0	0	0	0.010818	0	31	50		
FAM83D	81610	broad.mit.edu	37	20	37570635	37570635	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:37570635A>G	ENST00000217429.4	+	2	648	c.607A>G	c.(607-609)Atc>Gtc	p.I203V		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	173					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				GTTCACAGACATCGACATCTT	0.478																																						uc002xjg.2		NaN																	0				ovary(3)	3						c.(607-609)ATC>GTC		hypothetical protein LOC81610							174.0	176.0	175.0					20																	37570635		2028	4173	6201	SO:0001583	missense	81610				cell division|mitosis	cytoplasm|spindle pole		g.chr20:37570635A>G	AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 129"""	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.607A>G	20.37:g.37570635A>G	ENSP00000217429:p.Ile203Val					FAM83D_uc002xjf.2_Missense_Mutation_p.I203V	p.I203V	NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN			2	648	+		Myeloproliferative disorder(115;0.00878)	173					B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	Missense_Mutation	SNP	ENST00000217429.4	37	c.607A>G	CCDS42872.1	.	.	.	.	.	.	.	.	.	.	A	13.05	2.120768	0.37436	.	.	ENSG00000101447	ENST00000217429;ENST00000424027	T	0.13089	2.62	6.07	6.07	0.98685	.	0.178695	0.50627	D	0.000113	T	0.09158	0.0226	N	0.11724	0.165	0.31750	N	0.634653	P;P	0.40731	0.728;0.681	B;B	0.42771	0.397;0.276	T	0.09400	-1.0676	10	0.09843	T	0.71	.	12.7854	0.57502	0.8636:0.1364:0.0:0.0	.	173;157	Q9H4H8;Q9H4H8-2	FA83D_HUMAN;.	V	203;157	ENSP00000217429:I203V	ENSP00000217429:I203V	I	+	1	0	FAM83D	37004049	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.233000	0.51311	2.326000	0.78906	0.533000	0.62120	ATC		0.478	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1				25	58	0	0	0	0.004656	0	25	58		
SERINC3	10955	broad.mit.edu	37	20	43132519	43132519	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:43132519G>A	ENST00000342374.4	-	8	1149	c.992C>T	c.(991-993)tCt>tTt	p.S331F	SERINC3_ENST00000255175.1_Missense_Mutation_p.S331F|SERINC3_ENST00000541235.1_Missense_Mutation_p.S276F	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	331					phosphatidylserine metabolic process (GO:0006658)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			ATCCAGTAAAGACCCACTCTT	0.413																																						uc002xme.2		NaN																	0				skin(3)	3						c.(991-993)TCT>TTT		tumor differentially expressed protein 1							114.0	118.0	116.0					20																	43132519		2203	4300	6503	SO:0001583	missense	10955					integral to membrane|plasma membrane	protein binding	g.chr20:43132519G>A	U49188	CCDS13333.1	20q13.12	2008-05-14	2005-11-15	2005-11-15	ENSG00000132824	ENSG00000132824			11699	protein-coding gene	gene with protein product		607165	"""tumor differentially expressed 1"""	TDE1		10559794	Standard	NM_006811		Approved	DIFF33, TDE, SBBI99, TMS-1, AIGP1	uc002xme.3	Q13530	OTTHUMG00000033087	ENST00000342374.4:c.992C>T	20.37:g.43132519G>A	ENSP00000340243:p.Ser331Phe					SERINC3_uc002xmf.1_Missense_Mutation_p.S331F|SERINC3_uc010ggs.1_Missense_Mutation_p.S324F|SERINC3_uc010zwp.1_Missense_Mutation_p.S276F	p.S331F	NM_198941	NP_945179	Q13530	SERC3_HUMAN	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)		8	1126	-		Myeloproliferative disorder(115;0.0122)	331			Helical; (Potential).		B4DUE9|O43717|Q9BR33	Missense_Mutation	SNP	ENST00000342374.4	37	c.992C>T	CCDS13333.1	.	.	.	.	.	.	.	.	.	.	G	5.554	0.287083	0.10513	.	.	ENSG00000132824	ENST00000411544;ENST00000255175;ENST00000342374;ENST00000538937;ENST00000541235	T;T;T;T	0.14640	2.49;2.49;2.49;2.49	5.39	-6.18	0.02085	.	0.903580	0.09959	N	0.733615	T	0.11281	0.0275	L	0.43923	1.385	0.09310	N	0.999993	B;B	0.21753	0.002;0.06	B;B	0.28709	0.013;0.093	T	0.41858	-0.9485	10	0.56958	D	0.05	.	9.4939	0.38976	0.0:0.1897:0.4331:0.3772	.	331;331	Q53GK8;Q13530	.;SERC3_HUMAN	F	70;331;331;298;276	ENSP00000414197:S70F;ENSP00000255175:S331F;ENSP00000340243:S331F;ENSP00000440966:S276F	ENSP00000255175:S331F	S	-	2	0	SERINC3	42565933	0.999000	0.42202	0.001000	0.08648	0.003000	0.03518	0.335000	0.19806	-0.815000	0.04346	-0.165000	0.13383	TCT		0.413	SERINC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080544.3		NM_006811		23	40	0	0	0	0.014323	0	23	40		
CDH22	64405	broad.mit.edu	37	20	44803691	44803691	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:44803691G>A	ENST00000372262.3	-	11	2341	c.1941C>T	c.(1939-1941)ctC>ctT	p.L647L	CDH22_ENST00000537909.1_Silent_p.L647L	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	647					brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				GGTGGCGCCTGAGGGTGAGGA	0.627																																						uc002xrm.2		NaN																	0				ovary(4)|skin(1)	5						c.(1939-1941)CTC>CTT		cadherin 22 precursor							36.0	37.0	37.0					20																	44803691		2128	4242	6370	SO:0001819	synonymous_variant	64405				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:44803691G>A	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"""Cadherins / Major cadherins"""	13251	protein-coding gene	gene with protein product		609920	"""cadherin-like 22"""	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.1941C>T	20.37:g.44803691G>A						CDH22_uc010ghk.1_Silent_p.L647L	p.L647L	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN			11	2342	-		Myeloproliferative disorder(115;0.0122)	647			Cytoplasmic (Potential).		B9EGK7|O43205	Silent	SNP	ENST00000372262.3	37	c.1941C>T	CCDS13395.1																																																																																				0.627	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1		NM_021248		23	25	0	0	0	0.004656	0	23	25		
NCOA3	8202	broad.mit.edu	37	20	46279830	46279830	+	Silent	SNP	G	G	A	rs147918555	byFrequency	TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:46279830G>A	ENST00000371998.3	+	20	3947	c.3756G>A	c.(3754-3756)caG>caA	p.Q1252Q	NCOA3_ENST00000372004.3_Silent_p.Q1248Q|NCOA3_ENST00000371997.3_Silent_p.Q1243Q|NCOA3_ENST00000341724.6_Silent_p.Q1178Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1252	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q1252Q(3)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcaacagc	0.547													g|||	52	0.0103834	0.0053	0.0086	5008	,	,		14808	0.006		0.0	False		,,,				2504	0.0337					uc002xtk.2		NaN																	3	Substitution - coding silent(3)		lung(2)|prostate(1)	ovary(3)|lung(1)|skin(1)	5						c.(3754-3756)CAG>CAA		nuclear receptor coactivator 3 isoform a							47.0	54.0	51.0					20																	46279830		2202	4300	6502	SO:0001819	synonymous_variant	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46279830G>A	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3756G>A	20.37:g.46279830G>A						NCOA3_uc010ght.1_Silent_p.Q1243Q|NCOA3_uc002xtl.2_Silent_p.Q1248Q|NCOA3_uc002xtm.2_Silent_p.Q1247Q|NCOA3_uc002xtn.2_Silent_p.Q1251Q|NCOA3_uc010zyc.1_Silent_p.Q1047Q	p.Q1252Q	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN			20	3961	+			1252			Poly-Gln.|Acetyltransferase.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	c.3756G>A	CCDS13407.1																																																																																				0.547	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1		NM_006534		4	50	0	0	0	0.009096	0	4	50		
SULF2	55959	broad.mit.edu	37	20	46292924	46292924	+	Silent	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:46292924G>C	ENST00000359930.4	-	15	2858	c.2007C>G	c.(2005-2007)acC>acG	p.T669T	SULF2_ENST00000484875.1_Silent_p.T669T|SULF2_ENST00000467815.1_Silent_p.T669T|SULF2_ENST00000361612.4_Silent_p.T669T	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	669					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CTTTGTGCTGGGTGTGGTAGC	0.602											OREG0026005	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002xto.2		NaN																	0				ovary(2)|breast(2)|pancreas(1)|skin(1)	6						c.(2005-2007)ACC>ACG		sulfatase 2 isoform a precursor							48.0	41.0	44.0					20																	46292924		2203	4300	6503	SO:0001819	synonymous_variant	55959				bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr20:46292924G>C	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.2007C>G	20.37:g.46292924G>C			OREG0026005	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	938	SULF2_uc002xtr.2_Silent_p.T669T|SULF2_uc002xtq.2_Silent_p.T669T|SULF2_uc010zyd.1_5'UTR	p.T669T	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN			15	2337	-			669					E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Silent	SNP	ENST00000359930.4	37	c.2007C>G	CCDS13408.1	.	.	.	.	.	.	.	.	.	.	G	5.249	0.231486	0.09969	.	.	ENSG00000196562	ENST00000495544	.	.	.	5.61	0.901	0.19284	.	.	.	.	.	T	0.42359	0.1199	.	.	.	0.39933	D	0.974311	.	.	.	.	.	.	T	0.29701	-1.0003	4	.	.	.	-0.9328	1.695	0.02860	0.3048:0.1277:0.4206:0.1469	.	.	.	.	R	24	.	.	P	-	2	0	SULF2	45726331	0.368000	0.25031	0.452000	0.26994	0.701000	0.40568	0.317000	0.19487	0.316000	0.23135	-0.304000	0.09214	CCC		0.602	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1		NM_018837		8	25	0	0	0	0.008291	0	8	25		
ATP9A	10079	broad.mit.edu	37	20	50255994	50255994	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:50255994C>T	ENST00000338821.5	-	15	1820	c.1556G>A	c.(1555-1557)cGa>cAa	p.R519Q	ATP9A_ENST00000402822.1_Missense_Mutation_p.R398Q|ATP9A_ENST00000311637.5_Missense_Mutation_p.R383Q	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	519					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.R519Q(1)		breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						AGACTGGTCTCGGCCCACCAG	0.547											OREG0026043	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002xwg.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)	4						c.(1555-1557)CGA>CAA		ATPase, class II, type 9A							129.0	104.0	112.0					20																	50255994		2203	4300	6503	SO:0001583	missense	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50255994C>T	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.1556G>A	20.37:g.50255994C>T	ENSP00000342481:p.Arg519Gln		OREG0026043	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	968	ATP9A_uc010gih.1_Missense_Mutation_p.R383Q|ATP9A_uc002xwf.1_Intron	p.R519Q	NM_006045	NP_006036	O75110	ATP9A_HUMAN			15	1556	-			519			Cytoplasmic (Potential).		E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	c.1556G>A	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	C	35	5.518417	0.96416	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	T;T;T	0.72505	-0.66;-0.66;-0.66	5.26	5.26	0.73747	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.87740	0.6253	M	0.91872	3.25	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.964;0.978	D	0.90471	0.4453	10	0.87932	D	0	-15.1285	18.8519	0.92235	0.0:1.0:0.0:0.0	.	398;519	O75110-2;O75110	.;ATP9A_HUMAN	Q	383;519;398	ENSP00000309086:R383Q;ENSP00000342481:R519Q;ENSP00000385875:R398Q	ENSP00000309086:R383Q	R	-	2	0	ATP9A	49689401	1.000000	0.71417	0.966000	0.40874	0.989000	0.77384	7.718000	0.84743	2.452000	0.82932	0.609000	0.83330	CGA		0.547	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1		NM_006045		23	40	0	0	0	0.014323	0	23	40		
SALL4	57167	broad.mit.edu	37	20	50400861	50400861	+	Silent	SNP	G	G	C	rs555887614	byFrequency	TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:50400861G>C	ENST00000217086.4	-	4	3216	c.3105C>G	c.(3103-3105)ggC>ggG	p.G1035G	SALL4_ENST00000395997.3_Silent_p.G598G|SALL4_ENST00000371539.3_Silent_p.G258G	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	1035					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTTTGGGAACGCCGTCAGTAG	0.517																																						uc002xwh.3		NaN																	0				ovary(2)	2						c.(3103-3105)GGC>GGG		sal-like 4							110.0	98.0	102.0					20																	50400861		2203	4300	6503	SO:0001819	synonymous_variant	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50400861G>C	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.3105C>G	20.37:g.50400861G>C						SALL4_uc010gii.2_Silent_p.G598G|SALL4_uc002xwi.3_Silent_p.G258G	p.G1035G	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN			4	3206	-			1035					A2A2D8|Q540H3|Q6Y8G6	Silent	SNP	ENST00000217086.4	37	c.3105C>G	CCDS13438.1																																																																																				0.517	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3				21	80	0	0	0	0.014323	0	21	80		
SLC17A9	63910	broad.mit.edu	37	20	61588228	61588228	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:61588228G>A	ENST00000370351.4	+	2	302	c.171G>A	c.(169-171)tgG>tgA	p.W57*	SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370349.3_Nonsense_Mutation_p.W51*	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	57					exocytosis (GO:0006887)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						ACTTCGGCTGGAACAAGAAGG	0.632																																						uc002yea.3		NaN																	0				ovary(1)|skin(1)	2						c.(169-171)TGG>TGA		vesicular nucleotide transporter SLC17A9							46.0	55.0	52.0					20																	61588228		2133	4241	6374	SO:0001587	stop_gained	63910				exocytosis|transmembrane transport	integral to membrane	transporter activity	g.chr20:61588228G>A	AK027065	CCDS42901.1	20q13.33	2013-07-18	2013-07-18	2009-01-22	ENSG00000101194	ENSG00000101194		"""Solute carriers"""	16192	protein-coding gene	gene with protein product		612107	"""chromosome 20 open reading frame 59"", ""solute carrier family 17, member 9"""	C20orf59		18375752	Standard	NM_022082		Approved	FLJ23412, VNUT	uc002yea.4	Q9BYT1	OTTHUMG00000032951	ENST00000370351.4:c.171G>A	20.37:g.61588228G>A	ENSP00000359376:p.Trp57*					SLC17A9_uc002ydz.3_Nonsense_Mutation_p.W51*|SLC17A9_uc011aap.1_Nonsense_Mutation_p.W77*	p.W57*	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN			2	355	+			57					B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Nonsense_Mutation	SNP	ENST00000370351.4	37	c.171G>A	CCDS42901.1	.	.	.	.	.	.	.	.	.	.	G	36	5.797748	0.96952	.	.	ENSG00000101194	ENST00000370351;ENST00000370349;ENST00000411611	.	.	.	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.8918	0.88875	0.0:0.0:1.0:0.0	.	.	.	.	X	57;51;77	.	ENSP00000359374:W51X	W	+	3	0	SLC17A9	61058673	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.735000	0.91549	2.222000	0.72286	0.655000	0.94253	TGG		0.632	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080100.1		NM_022082		9	32	0	0	0	0.006214	0	9	32		
TPTE	7179	broad.mit.edu	37	21	10934121	10934121	+	Splice_Site	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr21:10934121C>G	ENST00000361285.4	-	16	1186		c.e16-1		TPTE_ENST00000342420.5_Splice_Site|TPTE_ENST00000415664.2_Splice_Site|TPTE_ENST00000298232.7_Splice_Site	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCTCTTTCACCTAAAATAAAT	0.299																																						uc002yip.1		NaN																	0				ovary(2)|lung(1)|breast(1)|skin(1)	5						c.e16-1		transmembrane phosphatase with tensin homology							116.0	119.0	118.0					21																	10934121		2203	4298	6501	SO:0001630	splice_region_variant	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10934121C>G	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.857-1G>C	21.37:g.10934121C>G						TPTE_uc002yis.1_Splice_Site|TPTE_uc002yiq.1_Splice_Site_p.S268_splice|TPTE_uc002yir.1_Splice_Site_p.S248_splice|TPTE_uc010gkv.1_Splice_Site_p.S148_splice	p.S286_splice	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	16	1225	-								B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Splice_Site	SNP	ENST00000361285.4	37	c.857_splice	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	7.299	0.612722	0.14066	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	.	.	.	2.07	2.07	0.26955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2257	0.43225	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TPTE	9955992	1.000000	0.71417	0.997000	0.53966	0.121000	0.20230	5.904000	0.69886	1.470000	0.48102	0.194000	0.17425	.		0.299	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			Intron	22	163	0	0	0	0.00278	0	22	163		
MRPL39	54148	broad.mit.edu	37	21	26978900	26978900	+	Silent	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr21:26978900G>C	ENST00000352957.4	-	2	182	c.141C>G	c.(139-141)ctC>ctG	p.L47L	MRPL39_ENST00000307301.7_Silent_p.L47L	NM_017446.3	NP_059142	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39	47						mitochondrial ribosome (GO:0005761)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						CTTTATTAAAGAGATCATTCC	0.413																																						uc002ylo.2		NaN																	0					0						c.(139-141)CTC>CTG		mitochondrial ribosomal protein L39 isoform a							88.0	84.0	85.0					21																	26978900		2203	4300	6503	SO:0001819	synonymous_variant	54148					mitochondrial ribosome	nucleotide binding	g.chr21:26978900G>C	AB051346	CCDS13573.1, CCDS33522.1	21q11.2-q21	2012-09-13			ENSG00000154719	ENSG00000154719		"""Mitochondrial ribosomal proteins / large subunits"""	14027	protein-coding gene	gene with protein product		611845				11543634	Standard	NM_080794		Approved	RPML5, MRP-L5, MGC104174, PRED66, PRED22, C21orf92, L39mt, MSTP003, MGC3400, FLJ20451	uc002yln.3	Q9NYK5	OTTHUMG00000078371	ENST00000352957.4:c.141C>G	21.37:g.26978900G>C						MRPL39_uc002yln.2_Silent_p.L47L	p.L47L	NM_017446	NP_059142	Q9NYK5	RM39_HUMAN			2	155	-			47					C9JYA5|Q32Q74|Q5QTR3|Q96Q65|Q9BSQ7|Q9BZV6|Q9NX44	Silent	SNP	ENST00000352957.4	37	c.141C>G	CCDS13573.1																																																																																				0.413	MRPL39-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000171194.1		NM_017446		7	48	0	0	0	0.00308	0	7	48		
GRIK1	2897	broad.mit.edu	37	21	30959910	30959910	+	Splice_Site	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr21:30959910C>G	ENST00000399907.1	-	12	1981		c.e12-1		GRIK1_ENST00000399914.1_Splice_Site|GRIK1_ENST00000389124.2_Splice_Site|GRIK1_ENST00000389125.3_Splice_Site|GRIK1_ENST00000535441.1_Splice_Site|GRIK1_ENST00000399909.1_Splice_Site|GRIK1_ENST00000309434.7_Splice_Site|GRIK1_ENST00000399913.1_Splice_Site|GRIK1_ENST00000327783.4_Splice_Site	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1						adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	GGTCAGCCCTCTGCAAAAGCA	0.453																																						uc002yno.1		NaN																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.e12-1		glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						55.0	59.0	58.0					21																	30959910		2203	4300	6503	SO:0001630	splice_region_variant	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:30959910C>G		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.1570-1G>C	21.37:g.30959910C>G						GRIK1_uc002ynn.2_Splice_Site_p.R509_splice|GRIK1_uc011acs.1_Splice_Site_p.R524_splice|GRIK1_uc011act.1_Splice_Site_p.R385_splice|GRIK1_uc010glq.1_Splice_Site_p.R367_splice	p.R524_splice	NM_000830	NP_000821	P39086	GRIK1_HUMAN			12	2034	-								Q13001|Q86SU9	Splice_Site	SNP	ENST00000399907.1	37	c.1570_splice	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.210899	0.79240	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	.	.	.	4.7	4.7	0.59300	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7849	0.88534	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GRIK1	29881781	1.000000	0.71417	0.998000	0.56505	0.895000	0.52256	7.603000	0.82811	2.610000	0.88304	0.655000	0.94253	.		0.453	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			Intron	8	15	0	0	0	0.00308	0	8	15		
C21orf59	56683	broad.mit.edu	37	21	33979964	33979964	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr21:33979964A>G	ENST00000290155.3	-	3	992	c.370T>C	c.(370-372)Tct>Cct	p.S124P	C21orf59_ENST00000540881.1_Missense_Mutation_p.S68P|AP000275.65_ENST00000553001.1_Missense_Mutation_p.S124P|C21orf59_ENST00000382549.4_Missense_Mutation_p.S124P	NM_021254.2	NP_067077.1	P57076	CU059_HUMAN	chromosome 21 open reading frame 59	124						cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|prostate(1)|skin(1)	5						CCAACCTTAGATATTATTGCT	0.348																																						uc002yqc.2		NaN																	0					0						c.(370-372)TCT>CCT		hypothetical protein LOC56683							139.0	142.0	141.0					21																	33979964		2201	4299	6500	SO:0001583	missense	56683					cytosol|nucleus		g.chr21:33979964A>G	AF282851	CCDS13617.1	21q22.11	2014-02-03	2003-07-22		ENSG00000159079	ENSG00000159079			1301	protein-coding gene	gene with protein product		615494	"""chromosome 21 open reading frame 48"""	C21orf48		24094744	Standard	NM_021254		Approved	FLJ20467, FBB18, CILD26	uc002yqc.3	P57076	OTTHUMG00000179510	ENST00000290155.3:c.370T>C	21.37:g.33979964A>G	ENSP00000290155:p.Ser124Pro					C21orf59_uc002ypx.1_Missense_Mutation_p.S17P|C21orf59_uc002ypy.1_Missense_Mutation_p.S124P|C21orf59_uc002ypz.1_Missense_Mutation_p.S124P|C21orf59_uc010glx.2_Intron|C21orf59_uc002yqd.2_Missense_Mutation_p.S124P|C21orf59_uc002yqb.3_Missense_Mutation_p.S124P|C21orf59_uc011adr.1_Missense_Mutation_p.S68P	p.S124P	NM_021254	NP_067077	P57076	CU059_HUMAN			3	483	-			124					Q53FH0	Missense_Mutation	SNP	ENST00000290155.3	37	c.370T>C	CCDS13617.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.458342	0.84317	.	.	ENSG00000159079	ENST00000553001;ENST00000440966;ENST00000382549;ENST00000290155;ENST00000543202;ENST00000540881;ENST00000458138	.	.	.	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.84629	0.5514	M	0.91140	3.18	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.995;0.995;0.996;0.997;0.999	D;D;D;P;P;D	0.71184	0.961;0.926;0.943;0.853;0.89;0.972	D	0.88030	0.2774	9	0.62326	D	0.03	-34.3701	15.1235	0.72463	1.0:0.0:0.0:0.0	.	68;124;124;124;124;124	F5GXV2;C9J818;P57076;D3DSE6;Q96NJ2;F8VZ95	.;.;CU059_HUMAN;.;.;.	P	124;124;124;124;124;68;107	.	ENSP00000290155:S124P	S	-	1	0	C21orf59	32901835	1.000000	0.71417	0.991000	0.47740	0.921000	0.55340	8.400000	0.90200	2.154000	0.67381	0.533000	0.62120	TCT		0.348	C21orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139431.1		NM_021254		15	40	0	0	0	0.00245	0	15	40		
SYNJ1	8867	broad.mit.edu	37	21	34003938	34003938	+	Silent	SNP	T	T	C	rs61750219		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr21:34003938T>C	ENST00000322229.7	-	31	4088	c.4089A>G	c.(4087-4089)caA>caG	p.Q1363Q	SYNJ1_ENST00000433931.2_Silent_p.Q1402Q|SYNJ1_ENST00000357345.3_3'UTR|SYNJ1_ENST00000382491.3_Silent_p.Q1316Q|SYNJ1_ENST00000382499.2_3'UTR			O43426	SYNJ1_HUMAN	synaptojanin 1	1363	Pro-rich.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						AAACATTACTTTGCGTTGCAG	0.448																																						uc002yqh.2		NaN																	0				ovary(4)|skin(1)	5						c.(4204-4206)CAA>CAG		synaptojanin 1 isoform a							78.0	81.0	80.0					21																	34003938		2203	4300	6503	SO:0001819	synonymous_variant	8867						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr21:34003938T>C	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.4089A>G	21.37:g.34003938T>C						SYNJ1_uc011ads.1_3'UTR|SYNJ1_uc002yqf.2_3'UTR|SYNJ1_uc002yqg.2_Silent_p.Q1316Q|SYNJ1_uc002yqi.2_3'UTR|SYNJ1_uc002yqe.3_5'UTR	p.Q1402Q	NM_003895	NP_003886	O43426	SYNJ1_HUMAN			32	4206	-			1363			Pro-rich.		O43425|O94984|Q4KMR1	Silent	SNP	ENST00000322229.7	37	c.4206A>G	CCDS54484.1																																																																																				0.448	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding					28	29	0	0	0	0.013726	0	28	29		
DOPEY2	9980	broad.mit.edu	37	21	37571421	37571421	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr21:37571421C>T	ENST00000399151.3	+	3	277	c.192C>T	c.(190-192)agC>agT	p.S64S	DOPEY2_ENST00000492760.1_Intron	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	64					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TCCTCATCAGCAAAAGATTAG	0.458																																						uc002yvg.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(190-192)AGC>AGT		pad-1-like							123.0	106.0	112.0					21																	37571421		2203	4300	6503	SO:0001819	synonymous_variant	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37571421C>T	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.192C>T	21.37:g.37571421C>T						DOPEY2_uc011aeb.1_Silent_p.S64S	p.S64S	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN			3	271	+			64					D3DSG5|Q6PJQ7|Q9UEZ3	Silent	SNP	ENST00000399151.3	37	c.192C>T	CCDS13643.1																																																																																				0.458	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1		NM_005128		19	43	0	0	0	0.007413	0	19	43		
ZBTB21	49854	broad.mit.edu	37	21	43413477	43413477	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr21:43413477G>A	ENST00000310826.5	-	3	911	c.728C>T	c.(727-729)tCa>tTa	p.S243L	ZBTB21_ENST00000398511.3_Missense_Mutation_p.S243L|ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398505.3_Missense_Mutation_p.S243L|ZBTB21_ENST00000398499.1_Missense_Mutation_p.S243L	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	243					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)										CAGAGGCTTTGAAGGCAACAC	0.428																																						uc002zab.3		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(727-729)TCA>TTA		zinc finger protein 295 isoform L							52.0	49.0	50.0					21																	43413477		2203	4300	6503	SO:0001583	missense	49854				negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|nucleus	methyl-CpG binding|protein binding|zinc ion binding	g.chr21:43413477G>A	AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13083	protein-coding gene	gene with protein product			"""zinc finger protein 295"""	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.728C>T	21.37:g.43413477G>A	ENSP00000308759:p.Ser243Leu					ZNF295_uc002yzz.3_Missense_Mutation_p.S243L|ZNF295_uc002yzy.3_Missense_Mutation_p.S243L|ZNF295_uc002zaa.3_Missense_Mutation_p.S243L|ZNF295_uc010gov.1_Missense_Mutation_p.S243L|ZNF295_uc002zac.2_Missense_Mutation_p.S243L	p.S243L	NM_001098402	NP_001091872	Q9ULJ3	ZN295_HUMAN			3	942	-			243					Q5R2W1|Q5R2W2|Q6P4R0	Missense_Mutation	SNP	ENST00000310826.5	37	c.728C>T	CCDS13678.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.222015	0.58560	.	.	ENSG00000173276	ENST00000398505;ENST00000310826;ENST00000398499;ENST00000398511	T;T;T;T	0.07908	3.39;3.15;3.15;3.15	5.48	1.6	0.23607	.	0.666605	0.13515	N	0.382127	T	0.07007	0.0178	L	0.51422	1.61	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.11329	0.006;0.001	T	0.36065	-0.9763	10	0.36615	T	0.2	-0.0619	1.2278	0.01937	0.2218:0.1122:0.4088:0.2572	.	243;243	Q9ULJ3-2;Q9ULJ3	.;ZN295_HUMAN	L	243	ENSP00000381517:S243L;ENSP00000308759:S243L;ENSP00000381512:S243L;ENSP00000381523:S243L	ENSP00000308759:S243L	S	-	2	0	ZNF295	42286546	0.605000	0.26941	0.002000	0.10522	0.996000	0.88848	1.506000	0.35747	0.672000	0.31204	0.655000	0.94253	TCA		0.428	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1		NM_020727		14	17	0	0	0	0.001855	0	14	17		
TRAPPC10	7109	broad.mit.edu	37	21	45522807	45522807	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr21:45522807C>T	ENST00000291574.4	+	22	3670	c.3495C>T	c.(3493-3495)ttC>ttT	p.F1165F		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1165					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						TCAGGCTGTTCAAGTACCTCC	0.552																																						uc002zea.2		NaN																	0				ovary(1)|skin(1)	2						c.(3493-3495)TTC>TTT		trafficking protein particle complex 10							107.0	94.0	98.0					21																	45522807		2203	4300	6503	SO:0001819	synonymous_variant	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45522807C>T	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.3495C>T	21.37:g.45522807C>T						TRAPPC10_uc010gpo.2_Silent_p.F876F|TRAPPC10_uc011afa.1_Silent_p.F543F	p.F1165F	NM_003274	NP_003265	P48553	TPC10_HUMAN			22	3664	+			1165					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Silent	SNP	ENST00000291574.4	37	c.3495C>T	CCDS13704.1																																																																																				0.552	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1		NM_003274		41	75	0	0	0	0.01441	0	41	75		
POFUT2	23275	broad.mit.edu	37	21	46685469	46685469	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr21:46685469C>T	ENST00000349485.5	-	9	1244	c.1218G>A	c.(1216-1218)acG>acA	p.T406T	POFUT2_ENST00000331343.7_3'UTR|POFUT2_ENST00000471540.1_5'UTR	NM_133635.4	NP_598368.2	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	406					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)		TGTTGTACGTCGTCTTGGGGT	0.527																																						uc002zhc.2		NaN																	0					0						c.(1216-1218)ACG>ACA		protein O-fucosyltransferase 2 isoform C							125.0	113.0	117.0					21																	46685469		2203	4300	6503	SO:0001819	synonymous_variant	23275				fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity	g.chr21:46685469C>T	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.1218G>A	21.37:g.46685469C>T						POFUT2_uc002zha.2_RNA|POFUT2_uc002zhb.2_RNA|POFUT2_uc002zhd.2_3'UTR	p.T406T	NM_133635	NP_598368	Q9Y2G5	OFUT2_HUMAN		Colorectal(79;0.243)	9	1243	-			406					Q6PJV1|Q7Z4N0|Q8WWU6|Q9BQS4|Q9BQS5|Q9UFY3	Silent	SNP	ENST00000349485.5	37	c.1218G>A	CCDS13719.1																																																																																				0.527	POFUT2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192573.2		NM_015227		14	55	0	0	0	0.00245	0	14	55		
MCM3AP	8888	broad.mit.edu	37	21	47704198	47704198	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr21:47704198C>A	ENST00000397708.1	-	2	1257	c.1003G>T	c.(1003-1005)Ggt>Tgt	p.G335C	YBEY_ENST00000397694.1_5'Flank|YBEY_ENST00000339195.6_5'Flank|YBEY_ENST00000397692.1_5'Flank|YBEY_ENST00000329319.3_5'Flank|MCM3AP_ENST00000291688.1_Missense_Mutation_p.G335C|YBEY_ENST00000397701.4_5'Flank|YBEY_ENST00000397691.1_5'Flank			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	335	FG-repeats.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AATAAAGTACCTCCCCGGGGT	0.522																																						uc002zir.1		NaN																	0				large_intestine(2)|lung(1)|ovary(1)|skin(1)	5						c.(1003-1005)GGT>TGT		minichromosome maintenance complex component 3							114.0	114.0	114.0					21																	47704198		2203	4300	6503	SO:0001583	missense	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47704198C>A	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.1003G>T	21.37:g.47704198C>A	ENSP00000380820:p.Gly335Cys					C21orf57_uc002zit.1_5'Flank|C21orf57_uc002ziu.1_5'Flank|C21orf57_uc002ziv.2_5'Flank|C21orf57_uc002ziw.2_5'Flank|C21orf57_uc002zix.2_5'Flank|C21orf57_uc010gqh.2_5'Flank|C21orf57_uc002ziy.2_5'Flank	p.G335C	NM_003906	NP_003897	O60318	MCM3A_HUMAN			1	1039	-	Breast(49;0.112)		335					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	c.1003G>T	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.387895	0.61956	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.18657	2.2;2.2	5.42	4.54	0.55810	.	0.104175	0.64402	D	0.000003	T	0.35189	0.0923	L	0.32530	0.975	0.49051	D	0.999741	D	0.89917	1.0	D	0.83275	0.996	T	0.11616	-1.0580	10	0.66056	D	0.02	-18.4768	13.8888	0.63726	0.0:0.926:0.0:0.074	.	335	O60318	MCM3A_HUMAN	C	335	ENSP00000380820:G335C;ENSP00000291688:G335C	ENSP00000291688:G335C	G	-	1	0	MCM3AP	46528626	0.828000	0.29307	0.981000	0.43875	0.520000	0.34377	3.927000	0.56499	1.292000	0.44672	0.563000	0.77884	GGT		0.522	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1		NM_003906		33	124	1	0	2.70662e-09	0.009535	2.86622e-09	33	124		
P2RX6	9127	broad.mit.edu	37	22	21380552	21380552	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr22:21380552C>T	ENST00000413302.2	+	11	1210	c.1062C>T	c.(1060-1062)ttC>ttT	p.F354F	P2RX6_ENST00000402329.3_3'UTR|P2RX6_ENST00000443995.3_Silent_p.F301F|P2RX6_ENST00000336296.2_Silent_p.F344F|P2RX6_ENST00000401443.1_Silent_p.F328F			O15547	P2RX6_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 6	354					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|channel activity (GO:0015267)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|purinergic nucleotide receptor activity (GO:0001614)|transmembrane signaling receptor activity (GO:0004888)										TCACCTTTTTCTGTGACCTGC	0.582																																						uc010gsu.1		NaN																	0					0						c.(1060-1062)TTC>TTT		purinergic receptor P2X6 isoform 1							44.0	40.0	41.0					22																	21380552		2201	4296	6497	SO:0001819	synonymous_variant	9127				muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity	g.chr22:21380552C>T		CCDS13788.2, CCDS54504.1	22q11.21	2012-01-17	2008-03-28	2008-03-28	ENSG00000099957	ENSG00000099957		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8538	protein-coding gene	gene with protein product		608077	"""purinergic receptor P2X-like 1, orphan receptor"""	P2RXL1		9242461, 10591208, 8786426	Standard	NM_005446		Approved	P2XM, MGC129625, P2X6	uc010gsu.1	O15547	OTTHUMG00000150689	ENST00000413302.2:c.1062C>T	22.37:g.21380552C>T						P2RX6_uc002ztz.2_Silent_p.F328F|P2RX6_uc002zua.2_RNA|P2RX6_uc002zuc.1_RNA	p.F354F	NM_005446	NP_005437	O15547	P2RX6_HUMAN			11	1062	+			354			Helical; Name=2; (Potential).		F6V3D7|Q32MB6|Q58F04|Q6IC33|Q9UL50	Silent	SNP	ENST00000413302.2	37	c.1062C>T	CCDS13788.2																																																																																				0.582	P2RX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319625.2		NM_005446		6	7	0	0	0	0.001984	0	6	7		
CCDC116	164592	broad.mit.edu	37	22	21988323	21988323	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr22:21988323A>T	ENST00000292779.3	+	3	246	c.85A>T	c.(85-87)Aag>Tag	p.K29*	CCDC116_ENST00000607942.1_Nonsense_Mutation_p.K29*	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	29										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					GCAGCTGCCCAAGAAGCCACT	0.642																																						uc002zve.2		NaN																	0				ovary(1)|skin(1)	2						c.(85-87)AAG>TAG		coiled-coil domain containing 116							54.0	56.0	55.0					22																	21988323		2203	4300	6503	SO:0001587	stop_gained	164592							g.chr22:21988323A>T	BC033499	CCDS13791.1	22q11.21	2006-06-27			ENSG00000161180	ENSG00000161180			26688	protein-coding gene	gene with protein product						12477932	Standard	NM_152612		Approved	FLJ36046	uc002zve.3	Q8IYX3	OTTHUMG00000150821	ENST00000292779.3:c.85A>T	22.37:g.21988323A>T	ENSP00000292779:p.Lys29*					CCDC116_uc011aih.1_Nonsense_Mutation_p.K29*	p.K29*	NM_152612	NP_689825	Q8IYX3	CC116_HUMAN			3	178	+	Colorectal(54;0.105)		29					Q8N9Y9	Nonsense_Mutation	SNP	ENST00000292779.3	37	c.85A>T	CCDS13791.1	.	.	.	.	.	.	.	.	.	.	A	17.55	3.416441	0.62511	.	.	ENSG00000161180	ENST00000425975;ENST00000292779	.	.	.	4.55	3.48	0.39840	.	0.447428	0.18715	N	0.133161	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-72.1893	8.1048	0.30879	0.7948:0.2052:0.0:0.0	.	.	.	.	X	95;29	.	ENSP00000292779:K29X	K	+	1	0	CCDC116	20318323	0.925000	0.31364	0.651000	0.29564	0.121000	0.20230	1.842000	0.39250	0.846000	0.35142	0.477000	0.44152	AAG		0.642	CCDC116-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320199.1		NM_152612		28	75	0	0	0	0.007291	0	28	75		
TOP3B	8940	broad.mit.edu	37	22	22322014	22322014	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr22:22322014C>T	ENST00000398793.2	-	8	1247	c.813G>A	c.(811-813)caG>caA	p.Q271Q	TOP3B_ENST00000413067.2_5'UTR|TOP3B_ENST00000357179.5_Silent_p.Q271Q	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	271					chromosome segregation (GO:0007059)|DNA topological change (GO:0006265)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase activity (GO:0003916)|DNA topoisomerase type I activity (GO:0003917)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		TTAAAAACATCTGTGCGATCT	0.502																																						uc002zvs.2		NaN																	0				kidney(1)	1						c.(811-813)CAG>CAA		topoisomerase (DNA) III beta							165.0	139.0	148.0					22																	22322014		2203	4300	6503	SO:0001819	synonymous_variant	8940				DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding	g.chr22:22322014C>T	AF017146	CCDS13797.1	22q11.22	2011-05-24			ENSG00000100038	ENSG00000100038			11993	protein-coding gene	gene with protein product		603582				9786842, 9074928	Standard	XM_005261811		Approved		uc002zvs.3	O95985	OTTHUMG00000167438	ENST00000398793.2:c.813G>A	22.37:g.22322014C>T						TOP3B_uc010gtm.1_5'UTR|TOP3B_uc002zvr.2_5'UTR|TOP3B_uc010gtl.2_Silent_p.Q271Q|TOP3B_uc002zvt.3_Silent_p.Q271Q	p.Q271Q	NM_003935	NP_003926	O95985	TOP3B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	8	1248	-	Colorectal(54;0.105)		271					A0M8Q3|Q9BUP5	Silent	SNP	ENST00000398793.2	37	c.813G>A	CCDS13797.1	.	.	.	.	.	.	.	.	.	.	C	10.16	1.274113	0.23221	.	.	ENSG00000100038	ENST00000457270	.	.	.	4.39	3.31	0.37934	.	.	.	.	.	T	0.56790	0.2009	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53315	-0.8456	4	.	.	.	.	7.8697	0.29558	0.0:0.7177:0.1491:0.1332	.	.	.	.	K	66	.	.	R	-	2	0	TOP3B	20652014	0.997000	0.39634	1.000000	0.80357	0.975000	0.68041	0.559000	0.23485	2.265000	0.75225	0.655000	0.94253	AGA		0.502	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320251.1		NM_003935		31	73	0	0	0	0.003271	0	31	73		
GGTLC2	91227	broad.mit.edu	37	22	22989480	22989480	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr22:22989480C>T	ENST00000480559.1	+	3	332	c.332C>T	c.(331-333)cCg>cTg	p.P111L	POM121L1P_ENST00000402027.1_RNA|GGTLC2_ENST00000448514.1_Missense_Mutation_p.P111L	NM_199127.2	NP_954578.2	Q14390	GGTL2_HUMAN	gamma-glutamyltransferase light chain 2	111					glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)	gamma-glutamyltransferase activity (GO:0003840)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)		READ - Rectum adenocarcinoma(21;0.145)		TCAATGTGCCCGACGATCATG	0.652																																						uc010gtt.2		NaN																	0				ovary(1)	1						c.(331-333)CCG>CTG		gamma-glutamyltransferase-like 4 isoform 1																																				SO:0001583	missense	91227				glutathione biosynthetic process		gamma-glutamyltransferase activity	g.chr22:22989480C>T	X98922	CCDS13802.2	22q11.21	2008-03-25	2008-03-10	2008-03-10	ENSG00000100121	ENSG00000100121		"""Gamma-glutamyltransferases"""	18596	protein-coding gene	gene with protein product		612339	"""gamma-glutamyltransferase-like 4"""	GGTL4		9074928, 18357469	Standard	NM_199127		Approved		uc010gtt.2	Q14390	OTTHUMG00000151177	ENST00000480559.1:c.332C>T	22.37:g.22989480C>T	ENSP00000419751:p.Pro111Leu					LOC96610_uc011aim.1_Intron|POM121L1P_uc011ait.1_5'Flank|GGTLC2_uc010gts.2_Missense_Mutation_p.P111L	p.P111L	NM_199127	NP_954578	Q14390	GGTL2_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	3	366	+	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)	111					A1A516|A2VCM9|Q5NV76|Q6ISH0	Missense_Mutation	SNP	ENST00000480559.1	37	c.332C>T	CCDS13802.2	.	.	.	.	.	.	.	.	.	.	c	13.63	2.294501	0.40594	.	.	ENSG00000100121	ENST00000480559;ENST00000448514	T;T	0.41400	1.0;1.0	.	.	.	.	0.000000	0.85682	D	0.000000	T	0.68988	0.3061	H	0.99286	4.5	0.53005	D	0.999969	D;D	0.54964	0.969;0.969	P;P	0.56751	0.805;0.635	T	0.68036	-0.5515	9	0.59425	D	0.04	-21.9871	5.8178	0.18506	0.0:0.999:0.0:0.001	.	111;111	Q14390;B7WND7	GGTL2_HUMAN;.	L	111	ENSP00000419751:P111L;ENSP00000415676:P111L	ENSP00000415676:P111L	P	+	2	0	GGTLC2	21319480	0.969000	0.33509	0.000000	0.03702	0.000000	0.00434	2.380000	0.44327	-0.000000	0.14550	0.000000	0.15137	CCG		0.652	GGTLC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321662.1		NM_199127		32	91	0	0	0	0.003755	0	32	91		
CARD10	29775	broad.mit.edu	37	22	37887821	37887821	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr22:37887821G>C	ENST00000403299.1	-	20	3021	c.2805C>G	c.(2803-2805)aaC>aaG	p.N935K	CARD10_ENST00000406271.3_Missense_Mutation_p.N649K|CARD10_ENST00000251973.5_Missense_Mutation_p.N935K			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	935					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)	receptor signaling complex scaffold activity (GO:0030159)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					GGTAGATCTCGTTCTGCACCA	0.617																																						uc003asx.1		NaN																	0				upper_aerodigestive_tract(1)|lung(1)|breast(1)|ovary(1)|prostate(1)|kidney(1)	6						c.(2803-2805)AAC>AAG		caspase recruitment domain protein 10							119.0	85.0	97.0					22																	37887821		2202	4299	6501	SO:0001583	missense	29775				activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity	g.chr22:37887821G>C	AF086324	CCDS13948.1	22q13.1	2008-05-22			ENSG00000100065	ENSG00000100065			16422	protein-coding gene	gene with protein product		607209				11259443, 11356195	Standard	NM_014550		Approved	CARMA3, BIMP1	uc003asu.1	Q9BWT7	OTTHUMG00000150592	ENST00000403299.1:c.2805C>G	22.37:g.37887821G>C	ENSP00000384570:p.Asn935Lys					CARD10_uc003ast.1_RNA|CARD10_uc003asu.1_5'UTR|CARD10_uc003asv.1_5'UTR|CARD10_uc011ank.1_Missense_Mutation_p.N253K|CARD10_uc003asw.1_Missense_Mutation_p.N649K|CARD10_uc003asy.1_Missense_Mutation_p.N935K	p.N935K	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN			19	2808	-	Melanoma(58;0.0574)		935					Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Missense_Mutation	SNP	ENST00000403299.1	37	c.2805C>G	CCDS13948.1	.	.	.	.	.	.	.	.	.	.	G	6.063	0.379857	0.11466	.	.	ENSG00000100065	ENST00000403299;ENST00000406271;ENST00000251973	T;T;T	0.38722	1.12;1.72;1.12	5.51	-8.61	0.00885	.	0.455576	0.22971	N	0.053432	T	0.17450	0.0419	N	0.22421	0.69	0.09310	N	0.999999	B;B	0.26002	0.049;0.139	B;B	0.24541	0.044;0.054	T	0.38001	-0.9681	10	0.02654	T	1	-21.7217	12.0851	0.53691	0.7831:0.0:0.1156:0.1013	.	935;649	Q9BWT7;Q8NC81	CAR10_HUMAN;.	K	935;649;935	ENSP00000384570:N935K;ENSP00000385799:N649K;ENSP00000251973:N935K	ENSP00000251973:N935K	N	-	3	2	CARD10	36217767	0.133000	0.22466	0.002000	0.10522	0.156000	0.22039	-0.146000	0.10250	-1.497000	0.01826	-2.000000	0.00444	AAC		0.617	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318997.1		NM_014550		7	55	0	0	0	0.006214	0	7	55		
GALR3	8484	broad.mit.edu	37	22	38220829	38220829	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr22:38220829C>G	ENST00000249041.2	+	2	484	c.459C>G	c.(457-459)ttC>ttG	p.F153L		NM_003614.1	NP_003605.1	O60755	GALR3_HUMAN	galanin receptor 3	153					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|learning or memory (GO:0007611)|negative regulation of adenylate cyclase activity (GO:0007194)|neuropeptide signaling pathway (GO:0007218)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|peptide hormone binding (GO:0017046)			endometrium(1)|liver(2)|lung(1)	4	Melanoma(58;0.045)					CGGCGCTCTTCTCGGCGCCCT	0.771																																						uc003aub.1		NaN																	0					0						c.(457-459)TTC>TTG		galanin receptor 3							3.0	4.0	3.0					22																	38220829		1767	3649	5416	SO:0001583	missense	8484				feeding behavior|learning or memory|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity	g.chr22:38220829C>G	AF073799	CCDS13958.1	22q113.1	2012-08-08			ENSG00000128310	ENSG00000128310		"""GPCR / Class A : Galanin receptors"""	4134	protein-coding gene	gene with protein product		603692				9722565, 9832121	Standard	NM_003614		Approved		uc003aub.1	O60755	OTTHUMG00000150658	ENST00000249041.2:c.459C>G	22.37:g.38220829C>G	ENSP00000249041:p.Phe153Leu						p.F153L	NM_003614	NP_003605	O60755	GALR3_HUMAN			2	484	+	Melanoma(58;0.045)		153			Helical; Name=4; (Potential).		Q53YJ4	Missense_Mutation	SNP	ENST00000249041.2	37	c.459C>G	CCDS13958.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.798794	0.50208	.	.	ENSG00000128310	ENST00000249041	T	0.69040	-0.37	4.99	2.5	0.30297	GPCR, rhodopsin-like superfamily (1);	0.237589	0.43110	N	0.000602	T	0.43411	0.1246	N	0.13003	0.285	0.40710	D	0.982568	B	0.25105	0.118	B	0.27796	0.083	T	0.20075	-1.0286	10	0.24483	T	0.36	.	6.0091	0.19565	0.0:0.575:0.0:0.425	.	153	O60755	GALR3_HUMAN	L	153	ENSP00000249041:F153L	ENSP00000249041:F153L	F	+	3	2	GALR3	36550775	0.603000	0.26924	1.000000	0.80357	0.993000	0.82548	-0.211000	0.09332	1.069000	0.40788	0.491000	0.48974	TTC		0.771	GALR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319452.1				4	11	0	0	0	0.000602	0	4	11		
PLA2G6	8398	broad.mit.edu	37	22	38541624	38541624	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr22:38541624C>T	ENST00000332509.3	-	3	429	c.246G>A	c.(244-246)gtG>gtA	p.V82V	PLA2G6_ENST00000417303.2_3'UTR|PLA2G6_ENST00000402064.1_Silent_p.V82V|PLA2G6_ENST00000436218.1_Silent_p.V82V|PLA2G6_ENST00000435484.1_3'UTR|PLA2G6_ENST00000335539.3_Silent_p.V82V|PLA2G6_ENST00000447598.2_3'UTR	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	82					cardiolipin acyl-chain remodeling (GO:0035965)|cardiolipin biosynthetic process (GO:0032049)|cell death (GO:0008219)|chemotaxis (GO:0006935)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of exocytosis (GO:0045921)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of vasodilation (GO:0045909)|regulation of store-operated calcium channel activity (GO:1901339)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|urinary bladder smooth muscle contraction (GO:0014832)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipase A2 activity (GO:0004623)			breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	GATGGAAATTCACTAGGGCGT	0.572																																						uc003auy.1		NaN																	0				ovary(1)	1						c.(244-246)GTG>GTA		phospholipase A2, group VI isoform a	Quinacrine(DB01103)						42.0	42.0	42.0					22																	38541624		2203	4300	6503	SO:0001819	synonymous_variant	8398				cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane		g.chr22:38541624C>T	AF064594	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			ENSG00000184381	ENSG00000184381	3.1.1.4	"""Patatin-like phospholipase domain containing"", ""Parkinson disease"", ""Ankyrin repeat domain containing"""	9039	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 2"""	603604				9417066, 16799181, 19029121	Standard	NM_001199562		Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	O60733	OTTHUMG00000151246	ENST00000332509.3:c.246G>A	22.37:g.38541624C>T						PLA2G6_uc003auz.1_Silent_p.V82V|PLA2G6_uc003ava.1_Silent_p.V82V|PLA2G6_uc003avb.2_Silent_p.V82V|PLA2G6_uc010gxk.1_Intron|PLA2G6_uc011ano.1_Silent_p.V82V	p.V82V	NM_003560	NP_003551	O60733	PA2G6_HUMAN			3	382	-	Melanoma(58;0.045)		82					A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Silent	SNP	ENST00000332509.3	37	c.246G>A	CCDS13967.1																																																																																				0.572	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321860.1		NM_001004426		15	36	0	0	0	0.007413	0	15	36		
NPTXR	23467	broad.mit.edu	37	22	39239400	39239400	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr22:39239400G>A	ENST00000333039.2	-	1	587	c.464C>T	c.(463-465)aCc>aTc	p.T155I		NM_014293.3	NP_055108	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	155						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					CAGCTTGCCGGTGAGCTCACG	0.766																																					Pancreas(139;2521 3281 36965)	uc003awk.2		NaN																	0				central_nervous_system(2)|skin(1)	3						c.(463-465)ACC>ATC		neuronal pentraxin receptor							3.0	3.0	3.0					22																	39239400		1218	2676	3894	SO:0001583	missense	23467					integral to membrane	metal ion binding	g.chr22:39239400G>A	AF052163	CCDS33647.1	22q13.1	2007-01-25			ENSG00000221890	ENSG00000221890			7954	protein-coding gene	gene with protein product		609474				16497176	Standard	NM_014293		Approved		uc003awk.3	O95502	OTTHUMG00000150458	ENST00000333039.2:c.464C>T	22.37:g.39239400G>A	ENSP00000327545:p.Thr155Ile						p.T155I	NM_014293	NP_055108	O95502	NPTXR_HUMAN			1	618	-	Melanoma(58;0.04)		155			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000333039.2	37	c.464C>T	CCDS33647.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.662740	0.67700	.	.	ENSG00000221890	ENST00000333039	T	0.18960	2.18	2.27	2.27	0.28462	.	.	.	.	.	T	0.38188	0.1031	M	0.68952	2.095	0.28930	N	0.89164	D	0.69078	0.997	P	0.60789	0.879	T	0.56475	-0.7973	8	0.87932	D	0	-4.8554	11.2401	0.48964	0.0:0.0:1.0:0.0	.	155	O95502	NPTXR_HUMAN	I	155	ENSP00000327545:T155I	ENSP00000327545:T155I	T	-	2	0	NPTXR	37569346	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	6.509000	0.73725	1.091000	0.41335	0.205000	0.17691	ACC		0.766	NPTXR-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318194.2		NM_014293		3	10	0	0	0	0.004672	0	3	10		
EP300	2033	broad.mit.edu	37	22	41513289	41513289	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr22:41513289C>T	ENST00000263253.7	+	2	1412	c.193C>T	c.(193-195)Cag>Tag	p.Q65*		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	65	Interaction with ALX1.|Interaction with RORA.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.Q65*(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TAATCAGCTTCAGACAAGTCT	0.418			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													uc003azl.3		NaN		Rec	yes		22	22q13	2033	T| N|F|Mis|O	300 kd E1A-Binding protein gene			"""L, E"""	MLL|RUNXBP2		colorectal|breast|pancreatic|AML|ALL|DLBCL		1	Substitution - Nonsense(1)		urinary_tract(1)	haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						c.(193-195)CAG>TAG		E1A binding protein p300							106.0	100.0	102.0					22																	41513289		2203	4300	6503	SO:0001587	stop_gained	2033	Rubinstein-Taybi_syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41513289C>T	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.193C>T	22.37:g.41513289C>T	ENSP00000263253:p.Gln65*						p.Q65*	NM_001429	NP_001420	Q09472	EP300_HUMAN			2	588	+			65			Interaction with ALX1.		B1AKC2	Nonsense_Mutation	SNP	ENST00000263253.7	37	c.193C>T	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	C	47	13.753545	0.99761	.	.	ENSG00000100393	ENST00000263253	.	.	.	6.16	6.16	0.99307	.	0.000000	0.46442	D	0.000298	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-5.7537	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	X	65	.	ENSP00000263253:Q65X	Q	+	1	0	EP300	39843235	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.617000	0.61204	2.937000	0.99478	0.650000	0.86243	CAG		0.418	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1		NM_001429		19	43	0	0	0	0.008871	0	19	43		
TCF20	6942	broad.mit.edu	37	22	42607770	42607770	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr22:42607770G>A	ENST00000359486.3	-	1	3678	c.3542C>T	c.(3541-3543)tCc>tTc	p.S1181F	TCF20_ENST00000335626.4_Missense_Mutation_p.S1181F|TCF20_ENST00000404876.1_5'Flank	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1181	Leucine-zipper.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TAACTTCTGGGAGCCATGCTT	0.532																																						uc003bcj.1		NaN																	0				ovary(4)|skin(1)	5						c.(3541-3543)TCC>TTC		transcription factor 20 isoform 1							69.0	68.0	68.0					22																	42607770		2203	4300	6503	SO:0001583	missense	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42607770G>A	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.3542C>T	22.37:g.42607770G>A	ENSP00000352463:p.Ser1181Phe					TCF20_uc003bck.1_Missense_Mutation_p.S1181F|TCF20_uc003bnt.2_Missense_Mutation_p.S1181F	p.S1181F	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN			1	3676	-			1181			Leucine-zipper.		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	c.3542C>T	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.439218	0.63067	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.59906	0.23;0.23	6.06	5.01	0.66863	.	0.503682	0.19775	N	0.106341	T	0.44746	0.1308	N	0.08118	0	0.80722	D	1	P;P	0.46220	0.874;0.8	P;B	0.48141	0.568;0.365	T	0.48514	-0.9029	10	0.62326	D	0.03	-8.6254	11.4767	0.50302	0.0:0.2085:0.6184:0.1731	.	1181;1181	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	F	1181	ENSP00000352463:S1181F;ENSP00000335561:S1181F	ENSP00000335561:S1181F	S	-	2	0	TCF20	40937714	0.930000	0.31532	0.996000	0.52242	0.922000	0.55478	1.788000	0.38714	2.882000	0.98803	0.655000	0.94253	TCC		0.532	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1		NM_181492		22	59	0	0	0	0.010504	0	22	59		
TTLL12	23170	broad.mit.edu	37	22	43570524	43570524	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr22:43570524A>C	ENST00000216129.6	-	7	1078	c.1015T>G	c.(1015-1017)Tca>Gca	p.S339A	TTLL12_ENST00000494035.1_5'Flank|TTLL12_ENST00000484118.1_5'UTR	NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	339	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)					central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				TTGAAGTGTGAGAAGTTGAAG	0.657																																						uc003bdq.2		NaN																	0				central_nervous_system(1)	1						c.(1015-1017)TCA>GCA		tubulin tyrosine ligase-like family, member 12							99.0	99.0	99.0					22																	43570524		2203	4300	6503	SO:0001583	missense	23170				protein modification process		tubulin-tyrosine ligase activity	g.chr22:43570524A>C	D63487	CCDS14047.1	22q13.31	2013-02-14	2006-02-02		ENSG00000100304	ENSG00000100304		"""Tubulin tyrosine ligase-like family"""	28974	protein-coding gene	gene with protein product						15890843	Standard	NM_015140		Approved	KIAA0153	uc003bdp.3	Q14166	OTTHUMG00000150682	ENST00000216129.6:c.1015T>G	22.37:g.43570524A>C	ENSP00000216129:p.Ser339Ala					TTLL12_uc003bdr.1_Missense_Mutation_p.S339A	p.S339A	NM_015140	NP_055955	Q14166	TTL12_HUMAN			7	1047	-		Ovarian(80;0.221)|Glioma(61;0.222)	339			TTL.		Q20WK5|Q9UGU3	Missense_Mutation	SNP	ENST00000216129.6	37	c.1015T>G	CCDS14047.1	.	.	.	.	.	.	.	.	.	.	A	12.35	1.912372	0.33721	.	.	ENSG00000100304	ENST00000216129;ENST00000423379	T	0.07444	3.19	5.09	5.09	0.68999	.	0.342793	0.31290	N	0.007916	T	0.10723	0.0262	L	0.49455	1.56	0.39081	D	0.960905	B;B	0.11235	0.004;0.004	B;B	0.10450	0.005;0.005	T	0.05886	-1.0858	10	0.38643	T	0.18	-24.7671	14.8504	0.70292	1.0:0.0:0.0:0.0	.	339;339	B1AH89;Q14166	.;TTL12_HUMAN	A	339	ENSP00000216129:S339A	ENSP00000216129:S339A	S	-	1	0	TTLL12	41900468	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	3.043000	0.49823	1.904000	0.55121	0.533000	0.62120	TCA		0.657	TTLL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319611.1		NM_015140		28	46	0	0	0	0.010818	0	28	46		
IL17REL	400935	broad.mit.edu	37	22	50436125	50436125	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr22:50436125C>T	ENST00000389983.2	-	12	1130	c.866G>A	c.(865-867)cGt>cAt	p.R289H	IL17REL_ENST00000341280.5_Missense_Mutation_p.R289H	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like	289										endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		TGGGAAGCGACGCTGTTCGAA	0.572																																						uc003bje.1		NaN																	0				pancreas(1)	1						c.(865-867)CGT>CAT		interleukin 17 receptor E-like							91.0	85.0	87.0					22																	50436125		2203	4300	6503	SO:0001583	missense	400935							g.chr22:50436125C>T	AK123987	CCDS33679.1	22q13.33	2009-01-13			ENSG00000188263	ENSG00000188263			33808	protein-coding gene	gene with protein product		613414					Standard	NM_001001694		Approved	FLJ41993	uc003bje.1	Q6ZVW7	OTTHUMG00000150242	ENST00000389983.2:c.866G>A	22.37:g.50436125C>T	ENSP00000374633:p.Arg289His						p.R289H	NM_001001694	NP_001001694	Q6ZVW7	I17EL_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	12	1098	-		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)	289					A6NCN4|A6PVC1	Missense_Mutation	SNP	ENST00000389983.2	37	c.866G>A	CCDS33679.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.621062	0.28889	.	.	ENSG00000188263	ENST00000389983;ENST00000341280	T;T	0.13778	2.56;2.56	2.02	-2.79	0.05841	.	0.902632	0.08762	U	0.897544	T	0.06416	0.0165	N	0.14661	0.345	0.09310	N	1	D	0.52996	0.957	B	0.42245	0.381	T	0.19289	-1.0310	10	0.39692	T	0.17	.	2.5052	0.04643	0.4363:0.3503:0.0:0.2134	.	289	Q6ZVW7	I17EL_HUMAN	H	289	ENSP00000374633:R289H;ENSP00000342520:R289H	ENSP00000342520:R289H	R	-	2	0	IL17REL	48778252	0.000000	0.05858	0.000000	0.03702	0.137000	0.21094	-1.235000	0.02928	-0.597000	0.05813	0.561000	0.74099	CGT		0.572	IL17REL-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317011.1		NM_001001694		13	49	0	0	0	0.003163	0	13	49		
PANX2	56666	broad.mit.edu	37	22	50609337	50609337	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr22:50609337C>T	ENST00000395842.2	+	1	178	c.178C>T	c.(178-180)Ctg>Ttg	p.L60L	PANX2_ENST00000159647.5_Silent_p.L60L	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	60					ion transport (GO:0006811)|protein hexamerization (GO:0034214)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CGGCACCGTGCTGGTGCCCAT	0.731																																						uc003bjn.3		NaN																	0				breast(1)	1						c.(178-180)CTG>TTG		pannexin 2 isoform 1							10.0	10.0	10.0					22																	50609337		2167	4260	6427	SO:0001819	synonymous_variant	56666				protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	g.chr22:50609337C>T		CCDS14085.2, CCDS54544.1	22q13.33	2011-12-05			ENSG00000073150	ENSG00000073150		"""Ion channels / Pannexins"""	8600	protein-coding gene	gene with protein product		608421				14702039, 14597722	Standard	NM_052839		Approved	hPANX2, PX2	uc003bjn.4	Q96RD6	OTTHUMG00000044649	ENST00000395842.2:c.178C>T	22.37:g.50609337C>T						PANX2_uc003bjp.3_5'UTR|PANX2_uc003bjo.3_Silent_p.L60L	p.L60L	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN		LUAD - Lung adenocarcinoma(64;0.105)	1	178	+		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)	60			Helical; (Potential).		B7Z684|Q96RD5|Q9UGX8	Silent	SNP	ENST00000395842.2	37	c.178C>T	CCDS14085.2																																																																																				0.731	PANX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075010.3		NM_052839		4	12	0	0	0	0.000602	0	4	12		
CNTN6	27255	broad.mit.edu	37	3	1445006	1445006	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:1445006G>C	ENST00000446702.2	+	23	3618	c.2991G>C	c.(2989-2991)ttG>ttC	p.L997F	CNTN6_ENST00000539053.1_Missense_Mutation_p.L925F|CNTN6_ENST00000350110.2_Missense_Mutation_p.L997F			Q9UQ52	CNTN6_HUMAN	contactin 6	997					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TTGCAGGTTTGAGTTCCAGAG	0.303																																						uc003boz.2		NaN																	0				skin(3)|lung(2)|breast(2)|pancreas(1)	8						c.(2989-2991)TTG>TTC		contactin 6 precursor																																				SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1445006G>C	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.2991G>C	3.37:g.1445006G>C	ENSP00000407822:p.Leu997Phe					CNTN6_uc011asj.1_Missense_Mutation_p.L925F|CNTN6_uc003bpa.2_Missense_Mutation_p.L997F	p.L997F	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	23	3258	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	997					Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.2991G>C	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	G	8.831	0.939979	0.18281	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.61859	0.07;0.08;0.07	5.24	1.94	0.25998	.	0.929550	0.09050	N	0.855959	T	0.59824	0.2222	L	0.34521	1.04	0.34467	D	0.702366	D	0.76494	0.999	D	0.80764	0.994	T	0.59616	-0.7421	10	0.19590	T	0.45	.	5.168	0.15096	0.5573:0.0:0.4427:0.0	.	997	Q9UQ52	CNTN6_HUMAN	F	997;925;997	ENSP00000407822:L997F;ENSP00000442791:L925F;ENSP00000341882:L997F	ENSP00000341882:L997F	L	+	3	2	CNTN6	1420006	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.076000	0.41548	0.566000	0.29273	-0.142000	0.14014	TTG		0.303	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2		NM_014461		12	40	0	0	0	0.010729	0	12	40		
CRBN	51185	broad.mit.edu	37	3	3194143	3194143	+	Missense_Mutation	SNP	G	G	C	rs146272907		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:3194143G>C	ENST00000231948.4	-	10	1167	c.1145C>G	c.(1144-1146)cCt>cGt	p.P382R	RP11-97C16.1_ENST00000607052.1_RNA|CRBN_ENST00000432408.2_Missense_Mutation_p.P381R	NM_016302.3	NP_057386.2	Q96SW2	CRBN_HUMAN	cereblon	382	Thalidomide-binding.				negative regulation of ion transmembrane transport (GO:0034766)|negative regulation of protein homooligomerization (GO:0032463)|positive regulation of protein homodimerization activity (GO:0090073)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP-dependent peptidase activity (GO:0004176)			endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	11				Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079)	Lenalidomide(DB00480)|Pomalidomide(DB08910)|Thalidomide(DB01041)	ATATTACCCAGGAAACCAGCT	0.393																																						uc003bpq.2		NaN																	0				ovary(1)	1						c.(1144-1146)CCT>CGT		cereblon		G	ARG/PRO,ARG/PRO	0,4406		0,0,2203	84.0	85.0	85.0		1142,1145	5.8	1.0	3	dbSNP_134	85	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CRBN	NM_001173482.1,NM_016302.3	103,103	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	381/442,382/443	3194143	1,13005	2203	4300	6503	SO:0001583	missense	51185				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul4A-RING ubiquitin ligase complex|cytoplasm|membrane|nucleus	ATP-dependent peptidase activity|protein binding	g.chr3:3194143G>C	BC017419	CCDS2562.1, CCDS54547.1	3p26.3	2014-05-27			ENSG00000113851	ENSG00000113851			30185	protein-coding gene	gene with protein product		609262	"""mental retardation, non-syndromic, autosomal recessive, 2A"""	MRT2A		15557513	Standard	NM_016302		Approved	MRT2	uc003bpq.3	Q96SW2	OTTHUMG00000090261	ENST00000231948.4:c.1145C>G	3.37:g.3194143G>C	ENSP00000231948:p.Pro382Arg					CRBN_uc003bpr.2_Missense_Mutation_p.P381R|CRBN_uc010hbw.2_Intron	p.P382R	NM_016302	NP_057386	Q96SW2	CRBN_HUMAN		Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079)	10	1164	-			382			Thalidomide-binding.		B2R6H4|C9IZA9|C9JAH6|Q6AI62|Q6NVZ0|Q9UHW4	Missense_Mutation	SNP	ENST00000231948.4	37	c.1145C>G	CCDS2562.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.887664	0.91814	0.0	1.16E-4	ENSG00000113851	ENST00000231948;ENST00000432408;ENST00000546075	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.87018	0.6073	M	0.92738	3.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.89293	0.3620	9	0.87932	D	0	.	20.0473	0.97613	0.0:0.0:1.0:0.0	.	381;382	Q96SW2-2;Q96SW2	.;CRBN_HUMAN	R	382;381;316	.	ENSP00000231948:P382R	P	-	2	0	CRBN	3169143	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.604000	0.98317	2.722000	0.93159	0.655000	0.94253	CCT		0.393	CRBN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206579.3		NM_016302		22	37	0	0	0	0.014323	0	22	37		
ITPR1	3708	broad.mit.edu	37	3	4818947	4818947	+	Splice_Site	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:4818947G>A	ENST00000443694.2	+	45	6135		c.e45-1		ITPR1_ENST00000423119.2_Splice_Site|ITPR1_ENST00000354582.6_Splice_Site|ITPR1_ENST00000302640.8_Splice_Site|ITPR1_ENST00000357086.4_Splice_Site|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Splice_Site			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1						activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	TCTTTGCTCAGAACTGCATAG	0.448																																						uc003bqa.2		NaN																	0				lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21						c.e45-1		inositol 1,4,5-triphosphate receptor, type 1							72.0	70.0	71.0					3																	4818947		2130	4267	6397	SO:0001630	splice_region_variant	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4818947G>A	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.6136-1G>A	3.37:g.4818947G>A						ITPR1_uc010hca.1_Splice_Site_p.N1998_splice|ITPR1_uc011asu.1_Intron|ITPR1_uc003bqc.2_Splice_Site_p.N983_splice	p.N2013_splice	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	45	6385	+								E7EPX7|E9PDE9|Q14660|Q99897	Splice_Site	SNP	ENST00000443694.2	37	c.6037_splice	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.930818	0.92389	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000443694	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.773	0.96379	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ITPR1	4793947	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	9.787000	0.99055	2.677000	0.91161	0.655000	0.94253	.		0.448	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3		NM_002222	Intron	3	4	0	0	0	0.004672	0	3	4		
ATP2B2	491	broad.mit.edu	37	3	10420033	10420033	+	Silent	SNP	G	G	A	rs147871544		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:10420033G>A	ENST00000352432.4	-	9	1173	c.1104C>T	c.(1102-1104)ggC>ggT	p.G368G	ATP2B2_ENST00000383800.4_Silent_p.G323G|ATP2B2_ENST00000397077.1_Silent_p.G323G|ATP2B2_ENST00000360273.2_Silent_p.G368G|ATP2B2_ENST00000343816.4_Silent_p.G354G			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	368					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CGTCAGCGTCGCCGCCCTCGG	0.627																																					Ovarian(125;1619 1709 15675 19819 38835)	uc003bvt.2		NaN																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1102-1104)GGC>GGT		plasma membrane calcium ATPase 2 isoform 1		G	,	1,4405	2.1+/-5.4	0,1,2202	91.0	83.0	86.0		1104,969	-8.8	0.0	3	dbSNP_134	86	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ATP2B2	NM_001001331.2,NM_001683.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	368/1244,323/1199	10420033	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10420033G>A	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.1104C>T	3.37:g.10420033G>A						ATP2B2_uc003bvv.2_Silent_p.G323G|ATP2B2_uc003bvw.2_Silent_p.G323G|ATP2B2_uc010hdo.2_Silent_p.G73G	p.G368G	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN			10	1543	-			368			Cytoplasmic (Potential).		O00766|Q12994|Q16818	Silent	SNP	ENST00000352432.4	37	c.1104C>T	CCDS33701.1																																																																																				0.627	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2		NM_001683		50	72	0	0	0	0.01441	0	50	72		
TIMP4	7079	broad.mit.edu	37	3	12195844	12195844	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:12195844G>A	ENST00000287814.4	-	4	970	c.460C>T	c.(460-462)Ctg>Ttg	p.L154L	SYN2_ENST00000432424.2_RNA	NM_003256.3	NP_003247.1	Q99727	TIMP4_HUMAN	TIMP metallopeptidase inhibitor 4	154	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|ovulation cycle (GO:0042698)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to peptide hormone (GO:0043434)	extracellular space (GO:0005615)|sarcomere (GO:0030017)	metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						CCACAGTTCAGATGGTAGTGA	0.473																																					Melanoma(199;1446 2144 30617 38794 51714)	uc003bwo.2		NaN																	0					0						c.(460-462)CTG>TTG		tissue inhibitor of metalloproteinase 4							234.0	203.0	214.0					3																	12195844		2203	4300	6503	SO:0001819	synonymous_variant	7079						metal ion binding|metalloendopeptidase inhibitor activity	g.chr3:12195844G>A	U76456	CCDS2608.1	3p25	2005-10-31	2005-08-08		ENSG00000157150	ENSG00000157150			11823	protein-coding gene	gene with protein product		601915	"""tissue inhibitor of metalloproteinase 4"""			8939999, 9693046	Standard	NM_003256		Approved		uc003bwo.3	Q99727	OTTHUMG00000129763	ENST00000287814.4:c.460C>T	3.37:g.12195844G>A						SYN2_uc003bwl.1_Intron|SYN2_uc003bwm.2_Intron|SYN2_uc003bwn.2_Intron	p.L154L	NM_003256	NP_003247	Q99727	TIMP4_HUMAN			4	767	-			154			NTR.		B2R7K6	Silent	SNP	ENST00000287814.4	37	c.460C>T	CCDS2608.1																																																																																				0.473	TIMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251978.1		NM_003256		72	157	0	0	0	0.01441	0	72	157		
KCNH8	131096	broad.mit.edu	37	3	19436626	19436626	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:19436626C>T	ENST00000328405.2	+	7	1266	c.1000C>T	c.(1000-1002)Cgc>Tgc	p.R334C	KCNH8_ENST00000475063.1_3'UTR|KCNH8_ENST00000537696.1_5'UTR	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	334					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						AAAGACAGTGCGCCTCTTGCG	0.478																																					NSCLC(124;1625 1765 8018 24930 42026)	uc003cbk.1		NaN																	0				lung(4)|ovary(1)	5						c.(1000-1002)CGC>TGC		potassium voltage-gated channel, subfamily H,							175.0	149.0	158.0					3																	19436626		2203	4300	6503	SO:0001583	missense	131096					integral to membrane	two-component sensor activity	g.chr3:19436626C>T	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.1000C>T	3.37:g.19436626C>T	ENSP00000328813:p.Arg334Cys					KCNH8_uc011awe.1_Missense_Mutation_p.R334C|KCNH8_uc010hex.1_5'UTR|KCNH8_uc011awf.1_5'UTR	p.R334C	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN			7	1195	+			334			Helical; Voltage-sensor; Name=Segment S4; (Potential).		B7Z2I7|Q59GQ6	Missense_Mutation	SNP	ENST00000328405.2	37	c.1000C>T	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.755132	0.49362	.	.	ENSG00000183960	ENST00000328405	D	0.99369	-5.78	5.78	1.88	0.25563	Ion transport (1);	0.000000	0.27725	U	0.018106	D	0.99579	0.9848	H	0.96208	3.785	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.98839	1.0754	9	.	.	.	.	15.6536	0.77115	0.4635:0.5365:0.0:0.0	.	334;334	B7Z398;Q96L42	.;KCNH8_HUMAN	C	334	ENSP00000328813:R334C	.	R	+	1	0	KCNH8	19411630	0.982000	0.34865	0.085000	0.20634	0.171000	0.22731	2.623000	0.46435	0.059000	0.16252	-0.974000	0.02594	CGC		0.478	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2		NM_144633		45	103	0	0	0	0.01441	0	45	103		
CMTM8	152189	broad.mit.edu	37	3	32280541	32280541	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:32280541G>A	ENST00000307526.3	+	1	371	c.77G>A	c.(76-78)aGc>aAc	p.S26N	CMTM8_ENST00000458535.2_Missense_Mutation_p.S26N|RP11-384L8.1_ENST00000565519.1_RNA	NM_178868.3	NP_849199.2	Q8IZV2	CKLF8_HUMAN	CKLF-like MARVEL transmembrane domain containing 8	26					chemotaxis (GO:0006935)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(1)|lung(1)	4						TTCTCCACCAGCAGCAGCAGC	0.706																																						uc003cex.2		NaN																	0					0						c.(76-78)AGC>AAC		CKLF-like MARVEL transmembrane domain containing							29.0	28.0	28.0					3																	32280541		2195	4297	6492	SO:0001583	missense	152189				chemotaxis	extracellular space|integral to membrane	cytokine activity	g.chr3:32280541G>A	AF474370	CCDS2652.1	3p22.2	2005-11-08	2005-11-08	2005-11-08	ENSG00000170293	ENSG00000170293			19179	protein-coding gene	gene with protein product		607891	"""chemokine-like factor super family 8"", ""chemokine-like factor superfamily 8"""	CKLFSF8			Standard	NM_178868		Approved		uc003cex.3	Q8IZV2	OTTHUMG00000130753	ENST00000307526.3:c.77G>A	3.37:g.32280541G>A	ENSP00000307741:p.Ser26Asn					CMTM8_uc010hfu.2_Missense_Mutation_p.S26N	p.S26N	NM_178868	NP_849199	Q8IZV2	CKLF8_HUMAN			1	371	+			26					A5D6I7|Q8IW01	Missense_Mutation	SNP	ENST00000307526.3	37	c.77G>A	CCDS2652.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.951322	0.53186	.	.	ENSG00000170293	ENST00000458535;ENST00000307526	T	0.33438	1.41	4.68	-1.37	0.09056	.	0.707951	0.12993	N	0.422322	T	0.17408	0.0418	N	0.08118	0	0.23946	N	0.996385	B;B	0.16603	0.018;0.01	B;B	0.15052	0.012;0.004	T	0.13818	-1.0495	10	0.27785	T	0.31	-14.9292	18.726	0.91714	0.0:0.6653:0.3347:0.0	.	26;26	A5D6I7;Q8IZV2	.;CKLF8_HUMAN	N	26	ENSP00000307741:S26N	ENSP00000307741:S26N	S	+	2	0	CMTM8	32255545	1.000000	0.71417	0.937000	0.37676	0.953000	0.61014	0.649000	0.24843	0.045000	0.15804	0.462000	0.41574	AGC		0.706	CMTM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253253.1		NM_178868		5	6	0	0	0	0.001168	0	5	6		
UBP1	7342	broad.mit.edu	37	3	33434926	33434926	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:33434926C>T	ENST00000283629.3	-	14	1940	c.1411G>A	c.(1411-1413)Gaa>Aaa	p.E471K	UBP1_ENST00000283628.5_Missense_Mutation_p.E471K|UBP1_ENST00000486388.1_5'UTR|UBP1_ENST00000447368.2_Missense_Mutation_p.E435K	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	471					angiogenesis (GO:0001525)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						ATCATTTCTTCCAAGTAGATT	0.368																																						uc003cfq.3		NaN																	0				kidney(2)	2						c.(1411-1413)GAA>AAA		upstream binding protein 1 (LBP-1a) isoform a							65.0	64.0	64.0					3																	33434926		2203	4300	6503	SO:0001583	missense	7342				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr3:33434926C>T	AF198487	CCDS2659.1, CCDS46788.1	3p22.3	2004-03-02			ENSG00000153560	ENSG00000153560			12507	protein-coding gene	gene with protein product		609784				8114710	Standard	NM_014517		Approved	LBP-1a	uc010hga.3	Q9NZI7	OTTHUMG00000130749	ENST00000283629.3:c.1411G>A	3.37:g.33434926C>T	ENSP00000283629:p.Glu471Lys					FBXL2_uc011axq.1_Intron|FBXL2_uc011axr.1_Intron|UBP1_uc003cfr.3_Missense_Mutation_p.E435K|UBP1_uc010hga.2_Missense_Mutation_p.E471K	p.E471K	NM_014517	NP_055332	Q9NZI7	UBIP1_HUMAN			14	1941	-			471					Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78	Missense_Mutation	SNP	ENST00000283629.3	37	c.1411G>A	CCDS2659.1	.	.	.	.	.	.	.	.	.	.	C	36	5.736796	0.96865	.	.	ENSG00000153560	ENST00000283629;ENST00000447368;ENST00000283628	T;T;T	0.20738	2.05;2.06;2.05	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.48095	0.1481	M	0.67700	2.07	0.80722	D	1	D;P	0.71674	0.998;0.643	D;B	0.80764	0.994;0.271	T	0.24977	-1.0145	10	0.49607	T	0.09	-24.1546	20.2527	0.98410	0.0:1.0:0.0:0.0	.	435;471	Q9NZI7-4;Q9NZI7	.;UBIP1_HUMAN	K	471;435;471	ENSP00000283629:E471K;ENSP00000395558:E435K;ENSP00000283628:E471K	ENSP00000283628:E471K	E	-	1	0	UBP1	33409930	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.788000	0.95919	0.557000	0.71058	GAA		0.368	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253249.2		NM_014517		12	32	0	0	0	0.013537	0	12	32		
CLASP2	23122	broad.mit.edu	37	3	33614729	33614729	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:33614729G>A	ENST00000468888.2	-	26	2645	c.2599C>T	c.(2599-2601)Cct>Tct	p.P867S	CLASP2_ENST00000307312.7_Missense_Mutation_p.P347S|CLASP2_ENST00000399362.4_Missense_Mutation_p.P866S|CLASP2_ENST00000480013.1_Missense_Mutation_p.P646S|CLASP2_ENST00000359576.5_Missense_Mutation_p.P858S|CLASP2_ENST00000461133.3_Missense_Mutation_p.P625S|CLASP2_ENST00000539981.1_Missense_Mutation_p.P636S			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	646					axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						ATATATGTAGGAATACTACCA	0.433																																						uc003cfu.2		NaN																	0				ovary(3)|central_nervous_system(1)	4						c.(2572-2574)CCT>TCT		CLIP-associating protein 2							268.0	253.0	258.0					3																	33614729		1956	4153	6109	SO:0001583	missense	23122							g.chr3:33614729G>A	AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.2599C>T	3.37:g.33614729G>A	ENSP00000419974:p.Pro867Ser					CLASP2_uc003cfs.2_Missense_Mutation_p.P66S|CLASP2_uc003cft.2_RNA|CLASP2_uc010hgb.2_RNA|CLASP2_uc011axt.1_Missense_Mutation_p.P459S	p.P858S	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN			25	2926	-			867					Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	ENST00000468888.2	37	c.2572C>T		.	.	.	.	.	.	.	.	.	.	G	29.2	4.985250	0.93044	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000539981;ENST00000480013;ENST00000461133;ENST00000475576	T;T;T	0.18657	2.22;2.22;2.2	5.74	4.87	0.63330	Armadillo-type fold (1);	0.106361	0.64402	N	0.000003	T	0.38983	0.1061	L	0.58810	1.83	0.58432	D	0.999999	D;B;D	0.89917	1.0;0.141;0.999	D;B;D	0.87578	0.998;0.067;0.99	T	0.20405	-1.0276	10	0.09843	T	0.71	-19.8218	14.9511	0.71074	0.0684:0.0:0.9316:0.0	.	646;858;866	O75122;F5H604;E7ERI8	CLAP2_HUMAN;.;.	S	867;866;858;347;636;646;625;157	ENSP00000419974:P867S;ENSP00000382297:P866S;ENSP00000352581:P858S	ENSP00000304743:P347S	P	-	1	0	CLASP2	33589733	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.710000	0.84655	1.580000	0.49851	0.650000	0.86243	CCT		0.433	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4		NM_001207044		70	135	0	0	0	0.01441	0	70	135		
DLEC1	9940	broad.mit.edu	37	3	38157986	38157986	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:38157986A>G	ENST00000308059.6	+	28	3920	c.3899A>G	c.(3898-3900)gAa>gGa	p.E1300G	DLEC1_ENST00000452631.2_Missense_Mutation_p.E1303G|DLEC1_ENST00000346219.3_Missense_Mutation_p.E1300G					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GAAGACAAGGAAGACCGGCTG	0.607																																						uc003cho.1		NaN																	0				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9						c.(3898-3900)GAA>GGA		deleted in lung and esophageal cancer 1 isoform							42.0	44.0	44.0					3																	38157986		1959	4165	6124	SO:0001583	missense	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38157986A>G	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.3899A>G	3.37:g.38157986A>G	ENSP00000308597:p.Glu1300Gly					DLEC1_uc003chp.1_Missense_Mutation_p.E1300G|DLEC1_uc010hgv.1_Missense_Mutation_p.E1303G|DLEC1_uc003chr.1_Missense_Mutation_p.E371G|DLEC1_uc010hgx.1_RNA|DLEC1_uc003chs.1_5'Flank	p.E1300G	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	28	3920	+			1300						Missense_Mutation	SNP	ENST00000308059.6	37	c.3899A>G	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	A	11.35	1.612372	0.28712	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.06142	3.35;3.34;3.57	5.08	1.03	0.20045	.	0.393384	0.25593	N	0.029612	T	0.07007	0.0178	L	0.60455	1.87	0.25313	N	0.989181	P;P;P;P	0.39424	0.673;0.617;0.673;0.673	B;B;B;B	0.37144	0.242;0.242;0.242;0.242	T	0.18493	-1.0335	10	0.56958	D	0.05	-7.9311	7.4552	0.27261	0.5925:0.2751:0.0:0.1324	.	1303;1300;1300;1300	F8W6T4;B7ZW06;Q9Y238-3;Q9Y238	.;.;.;DLEC1_HUMAN	G	1300;1300;1303	ENSP00000308597:E1300G;ENSP00000315914:E1300G;ENSP00000410427:E1303G	ENSP00000308597:E1300G	E	+	2	0	DLEC1	38132990	0.998000	0.40836	0.222000	0.23844	0.169000	0.22640	4.394000	0.59671	-0.062000	0.13088	-0.695000	0.03696	GAA		0.607	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3		NM_007337		18	50	0	0	0	0.004656	0	18	50		
TTC21A	199223	broad.mit.edu	37	3	39166997	39166997	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:39166997G>A	ENST00000431162.2	+	11	1524	c.1390G>A	c.(1390-1392)Gag>Aag	p.E464K	TTC21A_ENST00000440121.1_Missense_Mutation_p.E415K|TTC21A_ENST00000301819.6_Missense_Mutation_p.E464K			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	464										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CATTGCTAAGGAGTACTTGCT	0.552																																						uc003cjc.2		NaN																	0				ovary(1)	1						c.(1390-1392)GAG>AAG		tetratricopeptide repeat domain 21A isoform 2							123.0	114.0	117.0					3																	39166997		2006	4174	6180	SO:0001583	missense	199223						binding	g.chr3:39166997G>A	AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.1390G>A	3.37:g.39166997G>A	ENSP00000398211:p.Glu464Lys					TTC21A_uc003cje.2_Missense_Mutation_p.E464K|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Missense_Mutation_p.E415K	p.E464K	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	11	1567	+			464					A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	ENST00000431162.2	37	c.1390G>A	CCDS46800.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047894	0.75846	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.65364	-0.12;-0.15;0.01	5.59	4.72	0.59763	.	0.068399	0.56097	N	0.000035	T	0.78375	0.4273	M	0.82823	2.61	0.45621	D	0.998555	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.85130	0.959;0.997;0.994	T	0.77319	-0.2632	10	0.23302	T	0.38	-28.8158	13.2541	0.60068	0.0778:0.0:0.9222:0.0	.	415;464;464	Q8NDW8-6;Q8NDW8-7;Q8NDW8	.;.;TT21A_HUMAN	K	464;446;464;415	ENSP00000301819:E464K;ENSP00000398211:E464K;ENSP00000410882:E415K	ENSP00000301819:E464K	E	+	1	0	TTC21A	39142001	1.000000	0.71417	0.868000	0.34077	0.474000	0.32979	7.195000	0.77798	1.370000	0.46153	0.609000	0.83330	GAG		0.552	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1		NM_145755		28	96	0	0	0	0.013726	0	28	96		
ULK4	54986	broad.mit.edu	37	3	41831325	41831325	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:41831325C>T	ENST00000301831.4	-	21	2483	c.2021G>A	c.(2020-2022)aGa>aAa	p.R674K		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	674					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		GCGAGTGATTCTACACAAGGC	0.463																																						uc003ckv.3		NaN																	0					0						c.(2020-2022)AGA>AAA		unc-51-like kinase 4							107.0	101.0	103.0					3																	41831325		1955	4152	6107	SO:0001583	missense	54986						ATP binding|protein serine/threonine kinase activity	g.chr3:41831325C>T	AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"""unc-51-like kinase 4 (C. elegans)"""			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.2021G>A	3.37:g.41831325C>T	ENSP00000301831:p.Arg674Lys					ULK4_uc003ckw.2_Missense_Mutation_p.R674K	p.R674K	NM_017886	NP_060356	Q96C45	ULK4_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	21	2222	-			674					A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	ENST00000301831.4	37	c.2021G>A	CCDS43071.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.935004	0.52866	.	.	ENSG00000168038	ENST00000301831	T	0.65178	-0.14	5.91	5.91	0.95273	Armadillo-like helical (1);Armadillo-type fold (2);	0.055846	0.64402	U	0.000002	T	0.53012	0.1770	L	0.39245	1.2	0.80722	D	1	B;B	0.33748	0.13;0.423	B;B	0.29077	0.063;0.098	T	0.55661	-0.8106	10	0.56958	D	0.05	.	14.4499	0.67376	0.0:0.9301:0.0:0.0699	.	674;674	B4E2M4;Q96C45	.;ULK4_HUMAN	K	674	ENSP00000301831:R674K	ENSP00000301831:R674K	R	-	2	0	ULK4	41806329	1.000000	0.71417	0.138000	0.22173	0.994000	0.84299	3.457000	0.53007	2.802000	0.96397	0.655000	0.94253	AGA		0.463	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1		XM_929989		20	43	0	0	0	0.014323	0	20	43		
DHX30	22907	broad.mit.edu	37	3	47883135	47883135	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:47883135G>A	ENST00000445061.1	+	8	1104	c.697G>A	c.(697-699)Gac>Aac	p.D233N	DHX30_ENST00000348968.4_Missense_Mutation_p.D205N|DHX30_ENST00000457607.1_Missense_Mutation_p.D261N|DHX30_ENST00000446256.2_Missense_Mutation_p.D194N	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	233						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GACAGATGACGACAGTGCCAT	0.493																																						uc003cru.2		NaN																	0				ovary(2)|skin(2)	4						c.(697-699)GAC>AAC		DEAH (Asp-Glu-Ala-His) box polypeptide 30							104.0	95.0	98.0					3																	47883135		2203	4300	6503	SO:0001583	missense	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47883135G>A	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.697G>A	3.37:g.47883135G>A	ENSP00000405620:p.Asp233Asn					DHX30_uc003crs.2_Missense_Mutation_p.D194N|DHX30_uc003crt.2_Missense_Mutation_p.D194N|DHX30_uc010hjr.1_Missense_Mutation_p.D261N	p.D233N	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	8	1123	+			233					A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	c.697G>A	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.230896	0.39399	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.03301	3.99;3.98;3.99;3.98	4.53	4.53	0.55603	.	0.379178	0.28414	N	0.015428	T	0.02156	0.0067	N	0.12182	0.205	0.29081	N	0.882681	B;B;B	0.11235	0.001;0.001;0.004	B;B;B	0.06405	0.001;0.0;0.002	T	0.40079	-0.9582	10	0.09084	T	0.74	.	9.8734	0.41189	0.1043:0.0:0.8957:0.0	.	233;194;261	Q7L2E3;Q7L2E3-3;Q7L2E3-2	DHX30_HUMAN;.;.	N	194;233;205;261	ENSP00000392601:D194N;ENSP00000405620:D233N;ENSP00000343442:D205N;ENSP00000394682:D261N	ENSP00000343442:D205N	D	+	1	0	DHX30	47858139	.	.	0.997000	0.53966	0.981000	0.71138	.	.	2.328000	0.79073	0.655000	0.94253	GAC		0.493	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2		NM_138615		30	54	0	0	0	0.00632	0	30	54		
RBM6	10180	broad.mit.edu	37	3	50012766	50012766	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:50012766C>T	ENST00000266022.4	+	5	1683	c.1424C>T	c.(1423-1425)gCt>gTt	p.A475V	RBM6_ENST00000422955.1_5'UTR|RBM6_ENST00000443081.1_Missense_Mutation_p.A343V|RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000442092.1_Intron	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	475	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		ATTCTTAATGCTTTTCGGACT	0.358																																						uc003cyc.2		NaN																	0				ovary(2)	2						c.(1423-1425)GCT>GTT		RNA binding motif protein 6							175.0	163.0	167.0					3																	50012766		2203	4300	6503	SO:0001583	missense	10180				RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr3:50012766C>T	AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.1424C>T	3.37:g.50012766C>T	ENSP00000266022:p.Ala475Val					RBM6_uc011bdh.1_RNA|RBM6_uc010hlc.1_5'UTR|RBM6_uc003cyd.2_5'UTR|RBM6_uc003cye.2_Intron|RBM6_uc011bdi.1_Intron|RBM6_uc010hld.1_RNA|RBM6_uc010hle.1_RNA|RBM6_uc010hlf.1_Intron	p.A475V	NM_005777	NP_005768	P78332	RBM6_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)	5	1557	+			475			RRM.		O60549|O75524|Q86SS3	Missense_Mutation	SNP	ENST00000266022.4	37	c.1424C>T	CCDS2809.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.866071	0.91511	.	.	ENSG00000004534	ENST00000266022;ENST00000443081	T;T	0.08008	3.14;3.14	5.79	5.79	0.91817	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.063724	0.64402	D	0.000009	T	0.32010	0.0815	M	0.74647	2.275	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00360	-1.1790	9	.	.	.	-12.3846	20.0332	0.97547	0.0:1.0:0.0:0.0	.	475	P78332	RBM6_HUMAN	V	475;343	ENSP00000266022:A475V;ENSP00000396466:A343V	.	A	+	2	0	RBM6	49987770	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.026000	0.64103	2.749000	0.94314	0.491000	0.48974	GCT		0.358	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4		NM_005777		22	59	0	0	0	0.014323	0	22	59		
RBM5	10181	broad.mit.edu	37	3	50145531	50145531	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:50145531A>G	ENST00000347869.3	+	13	1245	c.1070A>G	c.(1069-1071)gAc>gGc	p.D357G	RBM5_ENST00000441812.2_3'UTR	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	357	Required for interaction with U2AF2.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGCAGTGTTGACTACAGTTAT	0.403																																						uc003cyg.2		NaN																	0				lung(1)	1						c.(1069-1071)GAC>GGC		RNA binding motif protein 5							209.0	179.0	189.0					3																	50145531		2203	4300	6503	SO:0001583	missense	10181				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding	g.chr3:50145531A>G	U23946	CCDS2810.1	3p21.3	2013-08-15			ENSG00000003756	ENSG00000003756		"""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9902	protein-coding gene	gene with protein product		606884				10352938, 23935508	Standard	NM_005778		Approved	LUCA15, H37	uc003cyg.3	P52756	OTTHUMG00000156785	ENST00000347869.3:c.1070A>G	3.37:g.50145531A>G	ENSP00000343054:p.Asp357Gly					RBM5_uc011bdj.1_Missense_Mutation_p.D301G|RBM5_uc011bdk.1_Missense_Mutation_p.D185G	p.D357G	NM_005778	NP_005769	P52756	RBM5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	13	1218	+			357			Required for interaction with U2AF2.		B2RA45|B4DM16|B4DMF9|B4DZ63|Q93021|Q9BU14|Q9HDA6|Q9UKY8|Q9UL24	Missense_Mutation	SNP	ENST00000347869.3	37	c.1070A>G	CCDS2810.1	.	.	.	.	.	.	.	.	.	.	A	17.65	3.441685	0.63067	.	.	ENSG00000003756	ENST00000347869;ENST00000543047;ENST00000544851	T	0.16073	2.37	5.88	5.88	0.94601	.	0.229377	0.47852	D	0.000218	T	0.14485	0.0350	L	0.43152	1.355	0.80722	D	1	P;P	0.41673	0.759;0.759	B;B	0.32289	0.143;0.143	T	0.05666	-1.0871	10	0.26408	T	0.33	-21.8797	16.2987	0.82793	1.0:0.0:0.0:0.0	.	47;357	Q59HE6;P52756	.;RBM5_HUMAN	G	357;356;47	ENSP00000343054:D357G	ENSP00000343054:D357G	D	+	2	0	RBM5	50120535	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.306000	0.72810	2.257000	0.74773	0.459000	0.35465	GAC		0.403	RBM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345797.3		NM_005778		19	28	0	0	0	0.012319	0	19	28		
MAPKAPK3	7867	broad.mit.edu	37	3	50685459	50685459	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:50685459G>A	ENST00000446044.1	+	13	1727	c.1131G>A	c.(1129-1131)caG>caA	p.Q377Q	MAPKAPK3_ENST00000357955.2_Silent_p.Q377Q	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	377					activation of MAPK activity (GO:0000187)|innate immune response (GO:0045087)|macropinocytosis (GO:0044351)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|Ras protein signal transduction (GO:0007265)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		CTGCCTCACAGGGCTGCAACA	0.572																																						uc003day.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1129-1131)CAG>CAA		mitogen-activated protein kinase-activated							54.0	55.0	54.0					3																	50685459		2203	4300	6503	SO:0001819	synonymous_variant	7867				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity	g.chr3:50685459G>A	U43784	CCDS2832.1	3p21.3	2004-03-10			ENSG00000114738	ENSG00000114738			6888	protein-coding gene	gene with protein product		602130				8626550, 8622688	Standard	NM_004635		Approved	3pK, MAPKAP3, 3PK	uc003dba.2	Q16644	OTTHUMG00000156850	ENST00000446044.1:c.1131G>A	3.37:g.50685459G>A						MAPKAPK3_uc003daz.1_Silent_p.Q377Q|MAPKAPK3_uc003dba.1_Silent_p.Q377Q|MAPKAPK3_uc010hlr.1_Silent_p.Q377Q	p.Q377Q	NM_004635	NP_004626	Q16644	MAPK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)	13	1727	+			377					B5BU67	Silent	SNP	ENST00000446044.1	37	c.1131G>A	CCDS2832.1	.	.	.	.	.	.	.	.	.	.	G	7.547	0.661916	0.14645	.	.	ENSG00000114738	ENST00000451680	.	.	.	5.88	2.72	0.32119	.	.	.	.	.	T	0.44519	0.1297	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32241	-0.9914	4	.	.	.	-25.2228	2.365	0.04316	0.2624:0.1285:0.4776:0.1315	.	.	.	.	R	92	.	.	G	+	1	0	MAPKAPK3	50660463	0.792000	0.28813	1.000000	0.80357	0.887000	0.51463	0.655000	0.24933	0.807000	0.34208	-0.137000	0.14449	GGG		0.572	MAPKAPK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346237.1		NM_004635		11	43	0	0	0	0.008291	0	11	43		
VPRBP	9730	broad.mit.edu	37	3	51464860	51464860	+	Intron	SNP	T	T	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:51464860T>G	ENST00000335891.5	-	7	682							Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein						B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		GCAATAGAAATAAGCTGCAAC	0.388																																						uc003dbe.1		NaN																	0				ovary(1)|skin(1)	2						c.(1810-1812)ATT>CTT		HIV-1 Vpr binding protein							61.0	57.0	58.0					3																	51464860		1842	4100	5942	SO:0001627	intron_variant	9730				interspecies interaction between organisms	cytoplasm|nucleus	protein binding	g.chr3:51464860T>G	AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"""DDB1 and CUL4 associated factors"""	30911	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 1"""					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.673-6456A>C	3.37:g.51464860T>G							p.I604L	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)	12	1978	-			604					Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Missense_Mutation	SNP	ENST00000335891.5	37	c.1810A>C		.	.	.	.	.	.	.	.	.	.	T	19.66	3.869178	0.72065	.	.	ENSG00000145041	ENST00000423656	T	0.66099	-0.19	6.06	6.06	0.98353	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70806	0.3266	L	0.43152	1.355	0.80722	D	1	P	0.38863	0.65	P	0.54140	0.743	T	0.70622	-0.4821	10	0.52906	T	0.07	-18.6102	16.6154	0.84909	0.0:0.0:0.0:1.0	.	604	Q9Y4B6	VPRBP_HUMAN	L	175	ENSP00000393183:I175L	ENSP00000393183:I175L	I	-	1	0	VPRBP	51439900	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.444000	0.80532	2.315000	0.78130	0.533000	0.62120	ATT		0.388	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_014703		20	35	0	0	0	0.00278	0	20	35		
ITIH1	3697	broad.mit.edu	37	3	52812034	52812034	+	Splice_Site	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:52812034G>T	ENST00000273283.2	+	2	162		c.e2+1		ITIH1_ENST00000542827.1_Splice_Site|ITIH1_ENST00000540715.1_5'Flank|ITIH1_ENST00000537050.1_5'Flank	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1						hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TGTGGACACCGTGAGTAAGAG	0.562																																						uc003dfs.2		NaN																	0				ovary(3)	3						c.e2+1		inter-alpha (globulin) inhibitor H1							118.0	108.0	112.0					3																	52812034		2203	4300	6503	SO:0001630	splice_region_variant	3697				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	g.chr3:52812034G>T		CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"""inter-alpha (globulin) inhibitor, H1 polypeptide"""			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.138+1G>T	3.37:g.52812034G>T						ITIH1_uc010hmn.1_Splice_Site	p.T46_splice	NM_002215	NP_002206	P19827	ITIH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)	2	162	+								A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Splice_Site	SNP	ENST00000273283.2	37	c.138_splice	CCDS2864.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.103996	0.56291	.	.	ENSG00000055957	ENST00000542827;ENST00000273283	.	.	.	4.72	3.84	0.44239	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7005	0.45924	0.0916:0.0:0.9084:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ITIH1	52787074	1.000000	0.71417	0.999000	0.59377	0.897000	0.52465	2.924000	0.48876	1.329000	0.45376	0.655000	0.94253	.		0.562	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1		NM_002215	Intron	33	71	1	0	1.22674e-20	0.00874	1.32679e-20	33	71		
PDE12	201626	broad.mit.edu	37	3	57545080	57545080	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:57545080G>A	ENST00000311180.8	+	2	1455	c.1352G>A	c.(1351-1353)tGt>tAt	p.C451Y	PDE12_ENST00000487257.1_Missense_Mutation_p.C451Y	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	451					mRNA processing (GO:0006397)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		AAAAGGATATGTGTTGCTAAT	0.358																																					Colon(125;308 1634 19198 50622 50717)	uc003diw.3		NaN																	0					0						c.(1351-1353)TGT>TAT		phosphodiesterase 12							173.0	178.0	177.0					3																	57545080		2203	4300	6503	SO:0001583	missense	201626						hydrolase activity	g.chr3:57545080G>A	AK074423	CCDS33772.1	3p14.3	2013-10-11			ENSG00000174840	ENSG00000174840			25386	protein-coding gene	gene with protein product	"""2'-phosphodiesterase"""					15231837	Standard	NM_177966		Approved	DKFZp667B1218, 2'-PDE	uc003diw.4	Q6L8Q7	OTTHUMG00000158599	ENST00000311180.8:c.1352G>A	3.37:g.57545080G>A	ENSP00000309142:p.Cys451Tyr					PDE12_uc003div.2_Missense_Mutation_p.C451Y	p.C451Y	NM_177966	NP_808881	Q6L8Q7	PDE12_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)	2	1478	+			451					B4DTU8|Q8IYU3|Q8NDU2|Q8TE78	Missense_Mutation	SNP	ENST00000311180.8	37	c.1352G>A	CCDS33772.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.816142	0.90790	.	.	ENSG00000174840	ENST00000487257;ENST00000311180	D;D	0.81579	-1.51;-1.51	5.89	5.89	0.94794	Endonuclease/exonuclease/phosphatase (2);	0.083088	0.85682	D	0.000000	D	0.90528	0.7032	M	0.80183	2.485	0.80722	D	1	D;D	0.69078	0.992;0.997	D;D	0.70227	0.968;0.963	D	0.90787	0.4683	10	0.87932	D	0	-10.5214	20.2561	0.98419	0.0:0.0:1.0:0.0	.	451;451	Q6L8Q7;F6T1Q0	PDE12_HUMAN;.	Y	451	ENSP00000420626:C451Y;ENSP00000309142:C451Y	ENSP00000309142:C451Y	C	+	2	0	PDE12	57520120	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.294000	0.78760	2.797000	0.96272	0.563000	0.77884	TGT		0.358	PDE12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351440.2		NM_177966		13	67	0	0	0	0.001855	0	13	67		
MAGI1	9223	broad.mit.edu	37	3	65346992	65346992	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:65346992C>T	ENST00000497477.2	-	21	3314	c.3315G>A	c.(3313-3315)gaG>gaA	p.E1105E	RP11-88H12.2_ENST00000602316.1_RNA|MAGI1_ENST00000330909.8_Silent_p.E1200E|MAGI1_ENST00000483466.1_Silent_p.E1201E|MAGI1_ENST00000402939.2_Silent_p.E1172E			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1201					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CACCATTGATCTCTAAAATTT	0.408																																						uc003dmn.2		NaN																	0				lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6						c.(3514-3516)GAG>GAA		membrane associated guanylate kinase, WW and PDZ							100.0	95.0	96.0					3																	65346992		2203	4300	6503	SO:0001819	synonymous_variant	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65346992C>T	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.3315G>A	3.37:g.65346992C>T						MAGI1_uc003dmm.2_Silent_p.E1200E|MAGI1_uc003dmo.2_Silent_p.E1201E|MAGI1_uc003dmp.2_Silent_p.E1105E	p.E1172E	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	22	4042	-		Lung NSC(201;0.0016)	1201			PDZ 6.		A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Silent	SNP	ENST00000497477.2	37	c.3516G>A		.	.	.	.	.	.	.	.	.	.	C	7.292	0.611352	0.14066	.	.	ENSG00000151276	ENST00000460329	.	.	.	5.59	3.46	0.39613	.	.	.	.	.	T	0.60728	0.2291	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58418	-0.7640	4	.	.	.	-35.0402	10.8813	0.46939	0.0:0.7765:0.0:0.2235	.	.	.	.	K	1081	.	.	R	-	2	0	MAGI1	65322032	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.689000	0.46993	1.345000	0.45676	0.650000	0.86243	AGA		0.408	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2		NM_004742		21	30	0	0	0	0.012319	0	21	30		
SHQ1	55164	broad.mit.edu	37	3	72799820	72799820	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:72799820G>A	ENST00000325599.8	-	11	1488	c.1349C>T	c.(1348-1350)tCc>tTc	p.S450F	SHQ1_ENST00000463369.1_Missense_Mutation_p.S422F|SHQ1_ENST00000468371.1_5'UTR	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	450	Ser-rich.				negative regulation of rRNA processing (GO:2000233)|positive regulation of apoptotic process (GO:0043065)|ribonucleoprotein complex assembly (GO:0022618)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		CTCAGAGCTGGAGCAAAGTGT	0.478																																						uc003dpf.2		NaN																	0				ovary(2)|large_intestine(1)	3						c.(1348-1350)TCC>TTC		SHQ1 homolog							44.0	37.0	39.0					3																	72799820		2203	4300	6503	SO:0001583	missense	55164				ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding	g.chr3:72799820G>A	BC025270	CCDS33788.1	3p13	2013-01-08	2013-01-08		ENSG00000144736	ENSG00000144736			25543	protein-coding gene	gene with protein product		613663	"""SHQ1 homolog (S. cerevisiae)"""			12477932	Standard	NM_018130		Approved	FLJ10539, Shq1p	uc003dpf.3	Q6PI26	OTTHUMG00000158814	ENST00000325599.8:c.1349C>T	3.37:g.72799820G>A	ENSP00000315182:p.Ser450Phe					SHQ1_uc010hod.2_Missense_Mutation_p.S361F	p.S450F	NM_018130	NP_060600	Q6PI26	SHQ1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)	11	1456	-		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)	450			Ser-rich.		B4DL05|Q6MZJ4|Q7Z748|Q9H7E5|Q9NVS8	Missense_Mutation	SNP	ENST00000325599.8	37	c.1349C>T	CCDS33788.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.795763	0.50208	.	.	ENSG00000144736	ENST00000325599;ENST00000463369	T;T	0.34072	1.41;1.38	5.73	2.88	0.33553	.	0.472295	0.21909	N	0.067323	T	0.22437	0.0541	L	0.27053	0.805	0.09310	N	1	B	0.34015	0.435	B	0.33799	0.17	T	0.10520	-1.0626	10	0.38643	T	0.18	-1.0617	6.5321	0.22332	0.0698:0.1286:0.6682:0.1334	.	450	Q6PI26	SHQ1_HUMAN	F	450;422	ENSP00000315182:S450F;ENSP00000417452:S422F	ENSP00000315182:S450F	S	-	2	0	SHQ1	72882510	0.997000	0.39634	0.007000	0.13788	0.040000	0.13550	2.071000	0.41500	0.730000	0.32425	0.655000	0.94253	TCC		0.478	SHQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352310.1		NM_018130		9	6	0	0	0	0.004482	0	9	6		
SHQ1	55164	broad.mit.edu	37	3	72897392	72897392	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:72897392C>T	ENST00000325599.8	-	1	239	c.100G>A	c.(100-102)Gag>Aag	p.E34K	SHQ1_ENST00000463369.1_5'Flank	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	34	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.				negative regulation of rRNA processing (GO:2000233)|positive regulation of apoptotic process (GO:0043065)|ribonucleoprotein complex assembly (GO:0022618)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		TCAGACCCCTCGAAGTAGACG	0.592																																						uc003dpf.2		NaN																	0				ovary(2)|large_intestine(1)	3						c.(100-102)GAG>AAG		SHQ1 homolog							148.0	145.0	146.0					3																	72897392		2203	4300	6503	SO:0001583	missense	55164				ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding	g.chr3:72897392C>T	BC025270	CCDS33788.1	3p13	2013-01-08	2013-01-08		ENSG00000144736	ENSG00000144736			25543	protein-coding gene	gene with protein product		613663	"""SHQ1 homolog (S. cerevisiae)"""			12477932	Standard	NM_018130		Approved	FLJ10539, Shq1p	uc003dpf.3	Q6PI26	OTTHUMG00000158814	ENST00000325599.8:c.100G>A	3.37:g.72897392C>T	ENSP00000315182:p.Glu34Lys					SHQ1_uc010hod.2_5'UTR	p.E34K	NM_018130	NP_060600	Q6PI26	SHQ1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)	1	207	-		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)	34			CS.		B4DL05|Q6MZJ4|Q7Z748|Q9H7E5|Q9NVS8	Missense_Mutation	SNP	ENST00000325599.8	37	c.100G>A	CCDS33788.1	.	.	.	.	.	.	.	.	.	.	C	33	5.245020	0.95272	.	.	ENSG00000144736	ENST00000325599	T	0.29917	1.55	5.81	4.01	0.46588	CS-like domain (1);HSP20-like chaperone (1);	0.167958	0.52532	D	0.000069	T	0.37156	0.0993	L	0.49455	1.56	0.80722	D	1	D	0.69078	0.997	P	0.53649	0.731	T	0.05053	-1.0909	10	0.29301	T	0.29	-6.0259	10.6932	0.45884	0.0:0.7946:0.1329:0.0724	.	34	Q6PI26	SHQ1_HUMAN	K	34	ENSP00000315182:E34K	ENSP00000315182:E34K	E	-	1	0	SHQ1	72980082	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	3.504000	0.53347	0.792000	0.33850	0.655000	0.94253	GAG		0.592	SHQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352310.1		NM_018130		73	139	0	0	0	0.01441	0	73	139		
CNTN3	5067	broad.mit.edu	37	3	74350557	74350557	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:74350557T>C	ENST00000263665.6	-	15	2114	c.2087A>G	c.(2086-2088)gAa>gGa	p.E696G		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	696	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		ACCTGCCTCTTCAGTTCTTAC	0.433																																						uc003dpm.1		NaN																	0				breast(3)|ovary(1)|skin(1)	5						c.(2086-2088)GAA>GGA		contactin 3 precursor							114.0	115.0	115.0					3																	74350557		2203	4300	6503	SO:0001583	missense	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74350557T>C	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.2087A>G	3.37:g.74350557T>C	ENSP00000263665:p.Glu696Gly						p.E696G	NM_020872	NP_065923	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	15	2167	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	696					B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	c.2087A>G	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	T	16.55	3.154934	0.57259	.	.	ENSG00000113805	ENST00000263665	T	0.53640	0.61	6.08	6.08	0.98989	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.47637	0.1456	L	0.37630	1.12	0.41172	D	0.98617	P	0.37233	0.588	B	0.43225	0.412	T	0.46317	-0.9200	10	0.49607	T	0.09	.	16.6512	0.85203	0.0:0.0:0.0:1.0	.	696	Q9P232	CNTN3_HUMAN	G	696	ENSP00000263665:E696G	ENSP00000263665:E696G	E	-	2	0	CNTN3	74433247	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.690000	0.68241	2.333000	0.79357	0.482000	0.46254	GAA		0.433	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1		NM_020872		19	62	0	0	0	0.014323	0	19	62		
CNTN3	5067	broad.mit.edu	37	3	74350587	74350587	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:74350587G>T	ENST00000263665.6	-	15	2084	c.2057C>A	c.(2056-2058)cCa>cAa	p.P686Q		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	686	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GGGTAAACTTGGTTCTCCACC	0.408																																						uc003dpm.1		NaN																	0				breast(3)|ovary(1)|skin(1)	5						c.(2056-2058)CCA>CAA		contactin 3 precursor							134.0	132.0	133.0					3																	74350587		2203	4300	6503	SO:0001583	missense	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74350587G>T	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.2057C>A	3.37:g.74350587G>T	ENSP00000263665:p.Pro686Gln						p.P686Q	NM_020872	NP_065923	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	15	2137	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	686			Fibronectin type-III 1.		B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	c.2057C>A	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.858235	0.91433	.	.	ENSG00000113805	ENST00000263665	T	0.57436	0.4	6.08	6.08	0.98989	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.86243	0.5886	H	0.99464	4.58	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91377	0.5124	10	0.87932	D	0	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	686	Q9P232	CNTN3_HUMAN	Q	686	ENSP00000263665:P686Q	ENSP00000263665:P686Q	P	-	2	0	CNTN3	74433277	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.107000	0.94261	2.894000	0.99253	0.591000	0.81541	CCA		0.408	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1		NM_020872		17	75	1	0	1.33834e-09	0.007413	1.419e-09	17	75		
EPHA6	285220	broad.mit.edu	37	3	96706689	96706689	+	Silent	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:96706689T>C	ENST00000389672.5	+	3	1004	c.966T>C	c.(964-966)tcT>tcC	p.S322S	EPHA6_ENST00000470610.2_Silent_p.S322S|EPHA6_ENST00000542517.1_Silent_p.S228S	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	228						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						ATTCCTCCTCTTTGGTTGAAG	0.473																																						uc010how.1		NaN																	0				stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						c.(964-966)TCT>TCC		EPH receptor A6 isoform a							202.0	198.0	199.0					3																	96706689		1945	4154	6099	SO:0001819	synonymous_variant	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:96706689T>C	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.966T>C	3.37:g.96706689T>C						EPHA6_uc003drp.1_Silent_p.S322S	p.S322S	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN			3	1009	+			227			Extracellular (Potential).		D6RAL5	Silent	SNP	ENST00000389672.5	37	c.966T>C	CCDS46876.1	.	.	.	.	.	.	.	.	.	.	T	8.231	0.804712	0.16467	.	.	ENSG00000080224	ENST00000506569	.	.	.	5.35	-1.53	0.08611	.	.	.	.	.	T	0.38348	0.1037	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25779	-1.0122	4	.	.	.	.	0.4512	0.00501	0.3546:0.2248:0.1212:0.2994	.	.	.	.	L	267	.	.	F	+	1	0	EPHA6	98189379	0.955000	0.32602	0.984000	0.44739	0.996000	0.88848	0.103000	0.15292	-0.537000	0.06290	0.528000	0.53228	TTT		0.473	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3		NM_001080448		56	128	0	0	0	0.01441	0	56	128		
MORC1	27136	broad.mit.edu	37	3	108690187	108690187	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:108690187A>G	ENST00000483760.1	-	24	2520	c.2477T>C	c.(2476-2478)tTa>tCa	p.L826S	MORC1_ENST00000232603.5_Missense_Mutation_p.L847S					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CTCACAACTTAATGCAGGTTC	0.383																																						uc003dxl.2		NaN																	0				ovary(3)|skin(3)|breast(2)	8						c.(2539-2541)TTA>TCA		MORC family CW-type zinc finger 1							119.0	121.0	121.0					3																	108690187		2203	4300	6503	SO:0001583	missense	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108690187A>G	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.2477T>C	3.37:g.108690187A>G	ENSP00000417282:p.Leu826Ser					MORC1_uc011bhn.1_Missense_Mutation_p.L826S	p.L847S	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN			25	2627	-			847						Missense_Mutation	SNP	ENST00000483760.1	37	c.2540T>C		.	.	.	.	.	.	.	.	.	.	A	9.030	0.987057	0.18889	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.05855	3.39;3.38	4.59	3.7	0.42460	.	1.295600	0.05770	N	0.606571	T	0.04952	0.0133	N	0.24115	0.695	0.09310	N	1	B;B	0.13594	0.0;0.008	B;B	0.14578	0.0;0.011	T	0.41378	-0.9512	10	0.06757	T	0.87	-0.6623	8.1018	0.30861	0.1132:0.0:0.8868:0.0	.	826;847	E7ERX1;Q86VD1	.;MORC1_HUMAN	S	847;826	ENSP00000232603:L847S;ENSP00000417282:L826S	ENSP00000232603:L847S	L	-	2	0	MORC1	110172877	0.001000	0.12720	0.025000	0.17156	0.023000	0.10783	0.390000	0.20768	1.262000	0.44165	-0.248000	0.11899	TTA		0.383	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1				28	76	0	0	0	0.008361	0	28	76		
TMPRSS7	344805	broad.mit.edu	37	3	111785291	111785291	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:111785291C>T	ENST00000452346.2	+	13	1611	c.1608C>T	c.(1606-1608)ctC>ctT	p.L536L	TMPRSS7_ENST00000419127.1_Silent_p.L410L			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	536	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ATGGCCCTCTCATCTGTGATG	0.507																																						uc010hqb.2		NaN																	0				ovary(1)|kidney(1)	2						c.(1228-1230)CTC>CTT		transmembrane protease, serine 7							100.0	100.0	100.0					3																	111785291		1967	4167	6134	SO:0001819	synonymous_variant	344805				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity	g.chr3:111785291C>T	BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"""Serine peptidases / Transmembrane"""	30846	protein-coding gene	gene with protein product			"""type II transmembrane serine protease 7"""			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.1608C>T	3.37:g.111785291C>T						TMPRSS7_uc011bhr.1_Silent_p.L265L	p.L410L	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN			11	1400	+			536			Extracellular (Potential).|LDL-receptor class A 2.		C9J8P7|E9PAS3|Q17RH4	Silent	SNP	ENST00000452346.2	37	c.1230C>T																																																																																					0.507	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000347592.2		XM_293599		32	232	0	0	0	0.00623	0	32	232		
TMPRSS7	344805	broad.mit.edu	37	3	111794272	111794272	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:111794272T>C	ENST00000452346.2	+	15	1891	c.1888T>C	c.(1888-1890)Tac>Cac	p.Y630H	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.Y504H			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	630	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TGGATCTGCCTACTGTGGTGC	0.582																																						uc010hqb.2		NaN																	0				ovary(1)|kidney(1)	2						c.(1510-1512)TAC>CAC		transmembrane protease, serine 7							148.0	159.0	155.0					3																	111794272		2009	4162	6171	SO:0001583	missense	344805				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity	g.chr3:111794272T>C	BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"""Serine peptidases / Transmembrane"""	30846	protein-coding gene	gene with protein product			"""type II transmembrane serine protease 7"""			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.1888T>C	3.37:g.111794272T>C	ENSP00000398236:p.Tyr630His					TMPRSS7_uc011bhr.1_Missense_Mutation_p.Y359H	p.Y504H	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN			13	1680	+			630			Extracellular (Potential).|Peptidase S1.		C9J8P7|E9PAS3|Q17RH4	Missense_Mutation	SNP	ENST00000452346.2	37	c.1510T>C		.	.	.	.	.	.	.	.	.	.	T	0.016	-1.535659	0.00942	.	.	ENSG00000176040	ENST00000452346;ENST00000443106;ENST00000437906;ENST00000419127	D;D	0.88509	-2.39;-2.39	5.92	3.49	0.39957	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.142504	0.48767	N	0.000165	T	0.75087	0.3802	N	0.12422	0.21	0.38502	D	0.948262	B;B	0.16603	0.018;0.004	B;B	0.20184	0.028;0.013	T	0.62595	-0.6821	10	0.22706	T	0.39	.	5.1714	0.15112	0.1324:0.1459:0.0:0.7218	.	630;504	Q7RTY8;Q7RTY8-2	TMPS7_HUMAN;.	H	630;618;604;504	ENSP00000398236:Y630H;ENSP00000411645:Y504H	ENSP00000411645:Y504H	Y	+	1	0	TMPRSS7	113276962	1.000000	0.71417	1.000000	0.80357	0.069000	0.16628	3.602000	0.54066	0.464000	0.27142	-0.250000	0.11733	TAC		0.582	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000347592.2		XM_293599		63	489	0	0	0	0.01441	0	63	489		
BOC	91653	broad.mit.edu	37	3	113003353	113003353	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:113003353C>T	ENST00000495514.1	+	17	3529	c.2825C>T	c.(2824-2826)tCg>tTg	p.S942L	BOC_ENST00000273395.4_Missense_Mutation_p.S943L|BOC_ENST00000355385.3_Missense_Mutation_p.S942L			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	942					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GGCTGCCCCTCGGCTGCAGTG	0.647																																						uc003dzx.2		NaN																	0				ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6						c.(2824-2826)TCG>TTG		brother of CDO precursor							38.0	35.0	36.0					3																	113003353		2203	4300	6503	SO:0001583	missense	91653				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	g.chr3:113003353C>T	AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.2825C>T	3.37:g.113003353C>T	ENSP00000418663:p.Ser942Leu					BOC_uc003dzy.2_Missense_Mutation_p.S942L|BOC_uc003dzz.2_Missense_Mutation_p.S943L|BOC_uc003eab.2_Missense_Mutation_p.S643L|BOC_uc003eac.2_Missense_Mutation_p.S257L	p.S942L	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	Epithelial(53;0.227)		17	3446	+			942			Cytoplasmic (Potential).		A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	ENST00000495514.1	37	c.2825C>T	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	C	5.542	0.284945	0.10513	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	T;T;T	0.59772	0.24;0.24;0.24	5.28	0.493	0.16878	.	0.610619	0.17628	N	0.167509	T	0.41926	0.1180	L	0.40543	1.245	0.09310	N	1	B;B;B	0.32071	0.335;0.355;0.242	B;B;B	0.20577	0.014;0.03;0.013	T	0.16958	-1.0385	10	0.51188	T	0.08	.	9.9697	0.41745	0.0:0.6694:0.0:0.3306	.	759;943;942	Q9BWV1-2;Q9BWV1-3;Q9BWV1	.;.;BOC_HUMAN	L	942;943;942	ENSP00000418663:S942L;ENSP00000273395:S943L;ENSP00000347546:S942L	ENSP00000273395:S943L	S	+	2	0	BOC	114486043	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.364000	0.20325	-0.216000	0.10048	-1.020000	0.02445	TCG		0.647	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3		NM_033254		43	37	0	0	0	0.009718	0	43	37		
GOLGB1	2804	broad.mit.edu	37	3	121411211	121411211	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:121411211C>T	ENST00000340645.5	-	14	7110	c.6985G>A	c.(6985-6987)Gaa>Aaa	p.E2329K	GOLGB1_ENST00000393667.3_Missense_Mutation_p.E2334K	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2329					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTACATTTTTCTAAAGAGTTA	0.373																																						uc003eei.3		NaN																	0				ovary(6)|breast(2)|skin(2)	10						c.(6985-6987)GAA>AAA		golgi autoantigen, golgin subfamily b,							93.0	92.0	92.0					3																	121411211		2203	4300	6503	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121411211C>T	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.6985G>A	3.37:g.121411211C>T	ENSP00000341848:p.Glu2329Lys					GOLGB1_uc010hrc.2_Missense_Mutation_p.E2334K|GOLGB1_uc003eej.3_Missense_Mutation_p.E2295K	p.E2329K	NM_004487	NP_004478	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	14	7111	-			2329			Cytoplasmic (Potential).|Potential.		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.6985G>A	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.596257	0.28445	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.14144	2.53;2.53	6.03	5.16	0.70880	.	0.283498	0.30051	N	0.010525	T	0.12902	0.0313	L	0.39898	1.24	0.28105	N	0.931239	P;P;B	0.39480	0.675;0.675;0.021	B;B;B	0.39258	0.295;0.295;0.022	T	0.09662	-1.0664	10	0.20519	T	0.43	.	13.3897	0.60816	0.0:0.9245:0.0:0.0755	.	2334;2334;2329	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	K	2329;2334	ENSP00000341848:E2329K;ENSP00000377275:E2334K	ENSP00000341848:E2329K	E	-	1	0	GOLGB1	122893901	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	2.793000	0.47845	1.574000	0.49760	-0.122000	0.15005	GAA		0.373	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1		NM_004487		29	156	0	0	0	0.010818	0	29	156		
GOLGB1	2804	broad.mit.edu	37	3	121415253	121415253	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:121415253C>T	ENST00000340645.5	-	13	4227	c.4102G>A	c.(4102-4104)Gaa>Aaa	p.E1368K	GOLGB1_ENST00000393667.3_Missense_Mutation_p.E1373K	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1368					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TGCAGGCTTTCGGCATGGACT	0.398																																						uc003eei.3		NaN																	0				ovary(6)|breast(2)|skin(2)	10						c.(4102-4104)GAA>AAA		golgi autoantigen, golgin subfamily b,							155.0	160.0	159.0					3																	121415253		2203	4299	6502	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121415253C>T	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.4102G>A	3.37:g.121415253C>T	ENSP00000341848:p.Glu1368Lys					GOLGB1_uc010hrc.2_Missense_Mutation_p.E1373K|GOLGB1_uc003eej.3_Missense_Mutation_p.E1334K|GOLGB1_uc011bjm.1_Missense_Mutation_p.E1254K|GOLGB1_uc010hrd.1_Missense_Mutation_p.E1332K	p.E1368K	NM_004487	NP_004478	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	4228	-			1368			Cytoplasmic (Potential).|Potential.		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.4102G>A	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.433734	0.25813	.	.	ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517	T;T;T	0.26660	2.27;2.27;1.72	6.17	3.04	0.35103	.	0.425465	0.22204	N	0.063183	T	0.23054	0.0557	M	0.64997	1.995	0.09310	N	0.999999	P;P;B;B;D	0.57899	0.545;0.545;0.36;0.36;0.981	B;B;B;B;B	0.42771	0.057;0.057;0.028;0.028;0.397	T	0.12451	-1.0547	10	0.30078	T	0.28	.	5.902	0.18972	0.0:0.6316:0.1642:0.2042	.	1293;1332;1373;1373;1368	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789	.;.;.;.;GOGB1_HUMAN	K	1368;1373;1332	ENSP00000341848:E1368K;ENSP00000377275:E1373K;ENSP00000418231:E1332K	ENSP00000341848:E1368K	E	-	1	0	GOLGB1	122897943	0.132000	0.22450	0.347000	0.25668	0.586000	0.36452	1.581000	0.36558	0.919000	0.36945	0.655000	0.94253	GAA		0.398	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1		NM_004487		288	141	0	0	0	0.01441	0	288	141		
ITGB5	3693	broad.mit.edu	37	3	124487931	124487931	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:124487931G>A	ENST00000296181.4	-	12	2242	c.1946C>T	c.(1945-1947)tCt>tTt	p.S649F	ITGB5_ENST00000461306.1_5'UTR	NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	649					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|epithelial cell-cell adhesion (GO:0090136)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alphav-beta5 complex (GO:0034684)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		AGGTTTCCCAGAGTGGAGCAG	0.557																																						uc003eho.2		NaN																	0				skin(2)	2						c.(1945-1947)TCT>TTT		integrin, beta 5 precursor							129.0	111.0	117.0					3																	124487931		2203	4300	6503	SO:0001583	missense	3693				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity	g.chr3:124487931G>A	J05633	CCDS3030.1	3q21.2	2010-03-23			ENSG00000082781	ENSG00000082781		"""Integrins"""	6160	protein-coding gene	gene with protein product		147561				2211615	Standard	NM_002213		Approved		uc003eho.3	P18084	OTTHUMG00000159432	ENST00000296181.4:c.1946C>T	3.37:g.124487931G>A	ENSP00000296181:p.Ser649Phe					ITGB5_uc010hrx.2_RNA	p.S649F	NM_002213	NP_002204	P18084	ITB5_HUMAN		GBM - Glioblastoma multiforme(114;0.163)	12	2243	-			649			Extracellular (Potential).		B0LPF8|B2RD70	Missense_Mutation	SNP	ENST00000296181.4	37	c.1946C>T	CCDS3030.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.686969	0.48097	.	.	ENSG00000082781	ENST00000296181	D	0.90620	-2.7	5.18	3.34	0.38264	Integrin beta subunit, tail (2);	0.539652	0.20421	N	0.092675	D	0.90728	0.7090	M	0.62723	1.935	0.40490	D	0.980536	P	0.36753	0.568	P	0.46758	0.526	D	0.89139	0.3515	10	0.66056	D	0.02	.	8.412	0.32648	0.0785:0.0:0.764:0.1575	.	649	P18084	ITB5_HUMAN	F	649	ENSP00000296181:S649F	ENSP00000296181:S649F	S	-	2	0	ITGB5	125970621	1.000000	0.71417	0.060000	0.19600	0.449000	0.32228	4.319000	0.59197	0.713000	0.32060	0.655000	0.94253	TCT		0.557	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355286.3		NM_002213		138	46	0	0	0	0.01441	0	138	46		
ZNF148	7707	broad.mit.edu	37	3	124952081	124952081	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:124952081G>A	ENST00000360647.4	-	9	1974	c.1489C>T	c.(1489-1491)Cag>Tag	p.Q497*	ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000484491.1_Nonsense_Mutation_p.Q497*|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000485866.1_Nonsense_Mutation_p.Q497*|ZNF148_ENST00000492394.1_Nonsense_Mutation_p.Q497*|ZNF148_ENST00000544464.1_Intron	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	497					cellular defense response (GO:0006968)|gamete generation (GO:0007276)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein complex assembly (GO:0006461)|substantia nigra development (GO:0021762)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						ACAGAAGGCTGAGAAGCTATG	0.438																																						uc003ehx.3		NaN																	0				skin(2)|ovary(1)|pancreas(1)	4						c.(1489-1491)CAG>TAG		zinc finger protein 148							128.0	126.0	127.0					3																	124952081		2203	4300	6503	SO:0001587	stop_gained	7707				cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chr3:124952081G>A	U09851	CCDS3031.1	3q21.2	2013-01-08	2006-06-13		ENSG00000163848	ENSG00000163848		"""Zinc fingers, C2H2-type"""	12933	protein-coding gene	gene with protein product		601897	"""zinc finger protein 148 (pHZ-52)"""			7557990, 9925940	Standard	NM_021964		Approved	BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148, pHZ-52	uc003ehx.4	Q9UQR1	OTTHUMG00000159448	ENST00000360647.4:c.1489C>T	3.37:g.124952081G>A	ENSP00000353863:p.Gln497*					SLC12A8_uc003ehw.3_Intron|ZNF148_uc003ehz.3_Nonsense_Mutation_p.Q497*|ZNF148_uc010hsa.2_Nonsense_Mutation_p.Q497*|ZNF148_uc003eia.3_Nonsense_Mutation_p.Q497*|ZNF148_uc003ehy.2_Intron	p.Q497*	NM_021964	NP_068799	Q9UQR1	ZN148_HUMAN			9	1975	-			497					D3DN27|O00389|O43591|Q58EY5|Q6PJ98	Nonsense_Mutation	SNP	ENST00000360647.4	37	c.1489C>T	CCDS3031.1	.	.	.	.	.	.	.	.	.	.	G	43	10.435668	0.99404	.	.	ENSG00000163848	ENST00000360647;ENST00000484491;ENST00000492394;ENST00000485866	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-8.7606	18.9946	0.92807	0.0:0.0:1.0:0.0	.	.	.	.	X	497	.	ENSP00000353863:Q497X	Q	-	1	0	ZNF148	126434771	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.716000	0.92895	0.655000	0.94253	CAG		0.438	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355452.4		NM_021964		192	83	0	0	0	0.01441	0	192	83		
PLXNA1	5361	broad.mit.edu	37	3	126724992	126724992	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:126724992C>T	ENST00000393409.2	+	7	1968	c.1968C>T	c.(1966-1968)ttC>ttT	p.F656F	PLXNA1_ENST00000251772.4_Silent_p.F633F	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	656					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CTGTGGACTTCGTCTTCTACA	0.607																																						uc003ejg.2		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1897-1899)TTC>TTT		plexin A1							192.0	170.0	178.0					3																	126724992		2203	4300	6503	SO:0001819	synonymous_variant	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126724992C>T	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.1968C>T	3.37:g.126724992C>T							p.F633F	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	7	1903	+			656			Extracellular (Potential).			Silent	SNP	ENST00000393409.2	37	c.1899C>T	CCDS33847.2																																																																																				0.607	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1		NM_032242		22	176	0	0	0	0.010504	0	22	176		
PLXNA1	5361	broad.mit.edu	37	3	126735421	126735421	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:126735421A>G	ENST00000393409.2	+	15	3076	c.3076A>G	c.(3076-3078)Atc>Gtc	p.I1026V	PLXNA1_ENST00000251772.4_Missense_Mutation_p.I1003V	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1026	IPT/TIG 2.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CAGCGCTCCCATCATCATCAA	0.632																																						uc003ejg.2		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(3007-3009)ATC>GTC		plexin A1							107.0	110.0	109.0					3																	126735421		2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126735421A>G	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.3076A>G	3.37:g.126735421A>G	ENSP00000377061:p.Ile1026Val						p.I1003V	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	15	3011	+			1026			IPT/TIG 2.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000393409.2	37	c.3007A>G	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	A	2.993	-0.207670	0.06180	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.72615	-0.67;-0.67	3.84	3.84	0.44239	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000003	T	0.47116	0.1428	N	0.10782	0.045	0.47245	D	0.999369	B	0.12013	0.005	B	0.22880	0.042	T	0.43458	-0.9390	10	0.02654	T	1	.	12.7968	0.57564	1.0:0.0:0.0:0.0	.	1026	Q9UIW2	PLXA1_HUMAN	V	1026;1003	ENSP00000377061:I1026V;ENSP00000251772:I1003V	ENSP00000251772:I1003V	I	+	1	0	PLXNA1	128218111	1.000000	0.71417	0.950000	0.38849	0.579000	0.36224	4.808000	0.62583	1.617000	0.50277	0.402000	0.26972	ATC		0.632	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1		NM_032242		15	216	0	0	0	0.006122	0	15	216		
EEFSEC	60678	broad.mit.edu	37	3	128060247	128060247	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:128060247G>A	ENST00000254730.6	+	5	1012	c.958G>A	c.(958-960)Gaa>Aaa	p.E320K	EEFSEC_ENST00000483569.1_3'UTR|EEFSEC_ENST00000483457.1_Missense_Mutation_p.E265K	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	320					selenocysteine incorporation (GO:0001514)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)|translation elongation factor activity (GO:0003746)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						CATCTCTGTGGAAAAGATACC	0.582																																						uc003eki.2		NaN																	0				ovary(1)	1						c.(958-960)GAA>AAA		eukaryotic elongation factor,							73.0	71.0	72.0					3																	128060247		2203	4300	6503	SO:0001583	missense	60678					cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity	g.chr3:128060247G>A		CCDS33849.1	3q21.3	2007-05-25			ENSG00000132394	ENSG00000132394			24614	protein-coding gene	gene with protein product	"""elongation factor for selenoprotein translation"""	607695				10970870, 15229221	Standard	XM_005247696		Approved	SELB, EFSEC	uc003eki.3	P57772	OTTHUMG00000159659	ENST00000254730.6:c.958G>A	3.37:g.128060247G>A	ENSP00000254730:p.Glu320Lys					EEFSEC_uc003ekj.2_Missense_Mutation_p.E265K	p.E320K	NM_021937	NP_068756	P57772	SELB_HUMAN			5	996	+			320					Q96HZ6	Missense_Mutation	SNP	ENST00000254730.6	37	c.958G>A	CCDS33849.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.358250	0.41801	.	.	ENSG00000132394	ENST00000254730;ENST00000483457	T;T	0.54479	0.98;0.57	5.34	4.35	0.52113	.	0.186294	0.56097	D	0.000027	T	0.22551	0.0544	N	0.03084	-0.415	0.39185	D	0.962852	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.003	T	0.19160	-1.0314	10	0.21014	T	0.42	-8.6187	3.4977	0.07661	0.3726:0.0:0.6274:0.0	.	265;320	C9J8T0;P57772	.;SELB_HUMAN	K	320;265	ENSP00000254730:E320K;ENSP00000417660:E265K	ENSP00000254730:E320K	E	+	1	0	EEFSEC	129542937	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.957000	0.63652	2.480000	0.83734	0.591000	0.81541	GAA		0.582	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356738.2		NM_021937		56	254	0	0	0	0.01441	0	56	254		
PIK3R4	30849	broad.mit.edu	37	3	130405056	130405056	+	Splice_Site	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:130405056A>G	ENST00000356763.3	-	15	4031	c.3474T>C	c.(3472-3474)atT>atC	p.I1158I	PIK3R4_ENST00000512677.1_5'UTR	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	1158					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TTAGCTTACCAATGCAGAGCC	0.428																																						uc003enj.2		NaN																	0				ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						c.(3472-3474)ATT>ATC		phosphoinositide-3-kinase, regulatory subunit 4							80.0	76.0	77.0					3																	130405056		2203	4300	6503	SO:0001630	splice_region_variant	30849				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr3:130405056A>G	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.3475+1T>C	3.37:g.130405056A>G							p.I1158I	NM_014602	NP_055417	Q99570	PI3R4_HUMAN			15	4055	-			1158			WD 4.		Q2TBF4	Silent	SNP	ENST00000356763.3	37	c.3474T>C	CCDS3067.1																																																																																				0.428	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1		NM_014602	Silent	25	25	0	0	0	0.005443	0	25	25		
ACPP	55	broad.mit.edu	37	3	132071660	132071660	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:132071660G>A	ENST00000336375.5	+	9	1051	c.961G>A	c.(961-963)Gag>Aag	p.E321K	ACPP_ENST00000351273.7_Missense_Mutation_p.E321K|ACPP_ENST00000475741.1_Missense_Mutation_p.E288K	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	321					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleotide metabolic process (GO:0009117)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|purine nucleobase metabolic process (GO:0006144)|regulation of sensory perception of pain (GO:0051930)|thiamine metabolic process (GO:0006772)	apical part of cell (GO:0045177)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi cisterna (GO:0031985)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|vesicle membrane (GO:0012506)	5'-nucleotidase activity (GO:0008253)|acid phosphatase activity (GO:0003993)|choline binding (GO:0033265)|identical protein binding (GO:0042802)|lysophosphatidic acid phosphatase activity (GO:0052642)|phosphatase activity (GO:0016791)|thiamine phosphate phosphatase activity (GO:0042131)			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						ATTGTACTTTGAGAAGGGGTA	0.433																																						uc010htp.2		NaN																	0				ovary(1)	1						c.(961-963)GAG>AAG		acid phosphatase, prostate short isoform							128.0	118.0	121.0					3																	132071660		2203	4300	6503	SO:0001583	missense	55					extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity	g.chr3:132071660G>A		CCDS3073.1, CCDS46916.1	3q22.1	2012-05-16			ENSG00000014257	ENSG00000014257	3.1.3.2		125	protein-coding gene	gene with protein product		171790					Standard	NM_001099		Approved	ACP3, ACP-3	uc003eop.4	P15309	OTTHUMG00000159650	ENST00000336375.5:c.961G>A	3.37:g.132071660G>A	ENSP00000337471:p.Glu321Lys					ACPP_uc003eon.3_Missense_Mutation_p.E288K|ACPP_uc003eop.3_Missense_Mutation_p.E321K	p.E321K	NM_001099	NP_001090	P15309	PPAP_HUMAN			9	1051	+			321					D3DNC6|Q5FBY0|Q96KY0|Q96QK9|Q96QM0	Missense_Mutation	SNP	ENST00000336375.5	37	c.961G>A	CCDS3073.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.978608	0.74360	.	.	ENSG00000014257	ENST00000336375;ENST00000475741;ENST00000351273	T;T;T	0.16457	2.34;2.34;2.34	5.83	4.01	0.46588	.	0.710576	0.13770	N	0.363936	T	0.26774	0.0655	L	0.37561	1.115	0.09310	N	0.999998	P;P;P	0.52692	0.913;0.894;0.955	B;B;P	0.54544	0.316;0.211;0.755	T	0.09618	-1.0666	10	0.59425	D	0.04	.	14.4811	0.67582	0.0:0.2805:0.7195:0.0	.	321;321;288	P15309;P15309-2;Q5FBY0	PPAP_HUMAN;.;.	K	321;288;321	ENSP00000337471:E321K;ENSP00000417744:E288K;ENSP00000323036:E321K	ENSP00000337471:E321K	E	+	1	0	ACPP	133554350	0.992000	0.36948	0.007000	0.13788	0.108000	0.19459	3.202000	0.51067	0.778000	0.33520	0.563000	0.77884	GAG		0.433	ACPP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356699.2		NM_001099		14	29	0	0	0	0.001855	0	14	29		
ACKR4	51554	broad.mit.edu	37	3	132319410	132319410	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:132319410G>A	ENST00000249887.2	+	2	265	c.169G>A	c.(169-171)Gca>Aca	p.A57T	ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000264990.6_Intron|ACAD11_ENST00000545291.1_Intron	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1	Q9NPB9	ACKR4_HUMAN	atypical chemokine receptor 4	57					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)										CATTGGACTTGCAGGCAATTC	0.383																																						uc003eow.2		NaN																	0					0						c.(169-171)GCA>ACA		chemokine (C-C motif) receptor-like 1							71.0	69.0	69.0					3																	132319410		2203	4299	6502	SO:0001583	missense	51554				chemotaxis|immune response	integral to plasma membrane	C-C chemokine receptor activity	g.chr3:132319410G>A	AF110640	CCDS3075.1	3q22	2013-07-17	2013-07-16	2013-07-16	ENSG00000129048	ENSG00000129048		"""GPCR / Class A : Chemokine receptors : Atypical"""	1611	protein-coding gene	gene with protein product		606065	"""chemokine (C-C motif) receptor-like 1"""	CCRL1		10767544, 16148	Standard	NM_016557		Approved	CCR11, CCBP2, VSHK1, CCX-CKR, PPR1	uc003eow.3	Q9NPB9	OTTHUMG00000159768	ENST00000249887.2:c.169G>A	3.37:g.132319410G>A	ENSP00000249887:p.Ala57Thr					ACAD11_uc003eov.3_Intron|ACAD11_uc011blr.1_Intron|CCRL1_uc003eox.2_Missense_Mutation_p.A57T	p.A57T	NM_016557	NP_057641	Q9NPB9	CCRL1_HUMAN			2	252	+			57			Helical; Name=1; (Potential).		B2R9U7	Missense_Mutation	SNP	ENST00000249887.2	37	c.169G>A	CCDS3075.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.265114	0.59431	.	.	ENSG00000129048	ENST00000249887;ENST00000424114	T	0.37235	1.21	5.4	5.4	0.78164	.	0.052472	0.85682	D	0.000000	T	0.51193	0.1660	L	0.51853	1.615	0.58432	D	0.999993	D	0.76494	0.999	D	0.64144	0.922	T	0.38779	-0.9645	10	0.33940	T	0.23	.	15.5415	0.76052	0.0:0.1382:0.8618:0.0	.	57	Q9NPB9	CCRL1_HUMAN	T	57	ENSP00000249887:A57T	ENSP00000249887:A57T	A	+	1	0	CCRL1	133802100	1.000000	0.71417	0.912000	0.35992	0.992000	0.81027	4.889000	0.63171	2.536000	0.85505	0.591000	0.81541	GCA		0.383	ACKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357238.2		NM_016557		20	23	0	0	0	0.003954	0	20	23		
TOPBP1	11073	broad.mit.edu	37	3	133339155	133339155	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:133339155T>G	ENST00000260810.5	-	20	3346	c.3215A>C	c.(3214-3216)cAg>cCg	p.Q1072P		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1072					cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TAACTGCTTCTGAAAGTTCTC	0.398								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)	uc003eps.2		NaN																	0				ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1)	7						c.(3214-3216)CAG>CCG	Other_conserved_DNA_damage_response_genes	topoisomerase (DNA) II binding protein 1							180.0	171.0	174.0					3																	133339155		1918	4119	6037	SO:0001583	missense	11073				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding	g.chr3:133339155T>G	AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.3215A>C	3.37:g.133339155T>G	ENSP00000260810:p.Gln1072Pro					TOPBP1_uc003ept.1_Missense_Mutation_p.Q76P	p.Q1072P	NM_007027	NP_008958	Q92547	TOPB1_HUMAN			20	3347	-			1072					B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	ENST00000260810.5	37	c.3215A>C	CCDS46919.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.732446	0.89482	.	.	ENSG00000163781	ENST00000260810	T	0.16743	2.32	6.17	6.17	0.99709	.	0.101090	0.64402	D	0.000001	T	0.43277	0.1240	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	T	0.26503	-1.0101	10	0.62326	D	0.03	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	985;1072	A0AV47;Q92547	.;TOPB1_HUMAN	P	1072	ENSP00000260810:Q1072P	ENSP00000260810:Q1072P	Q	-	2	0	TOPBP1	134821845	1.000000	0.71417	0.989000	0.46669	0.995000	0.86356	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	CAG		0.398	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1		NM_007027		32	19	0	0	0	0.004289	0	32	19		
NCK1	4690	broad.mit.edu	37	3	136667120	136667120	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:136667120C>T	ENST00000481752.1	+	4	1123	c.959C>T	c.(958-960)tCa>tTa	p.S320L	NCK1_ENST00000469404.1_Missense_Mutation_p.S256L|IL20RB_ENST00000484501.1_Intron|NCK1_ENST00000288986.2_Missense_Mutation_p.S320L			P16333	NCK1_HUMAN	NCK adaptor protein 1	320	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of translation (GO:0006417)|response to other organism (GO:0051707)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|protein kinase inhibitor activity (GO:0004860)|receptor binding (GO:0005102)|receptor signaling complex scaffold activity (GO:0030159)|receptor tyrosine kinase binding (GO:0030971)			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						TTCTCAGTATCACTAAAAGCA	0.318																																						uc003erh.2		NaN																	0				pancreas(1)	1						c.(958-960)TCA>TTA		NCK adaptor protein 1							73.0	70.0	71.0					3																	136667120		2203	4298	6501	SO:0001583	missense	4690				axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity	g.chr3:136667120C>T	X17576	CCDS3092.1, CCDS54644.1	3q21	2013-02-14			ENSG00000158092	ENSG00000158092		"""SH2 domain containing"""	7664	protein-coding gene	gene with protein product		600508		NCK		7806213, 9737977	Standard	XM_005247498		Approved	NCKalpha	uc003erh.3	P16333	OTTHUMG00000159781	ENST00000481752.1:c.959C>T	3.37:g.136667120C>T	ENSP00000417273:p.Ser320Leu					NCK1_uc011bme.1_Missense_Mutation_p.S256L	p.S320L	NM_006153	NP_006144	P16333	NCK1_HUMAN			4	1066	+			320			SH2.		B7Z751|D3DNE3	Missense_Mutation	SNP	ENST00000481752.1	37	c.959C>T	CCDS3092.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.550294	0.86127	.	.	ENSG00000158092	ENST00000288986;ENST00000481752;ENST00000469404;ENST00000467911	T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93	5.81	5.81	0.92471	SH2 motif (5);	0.000000	0.85682	D	0.000000	D	0.91482	0.7311	H	0.97214	3.96	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93943	0.7225	10	0.87932	D	0	-18.8709	17.5771	0.87953	0.0:1.0:0.0:0.0	.	256;320	B7Z751;P16333	.;NCK1_HUMAN	L	320;320;256;123	ENSP00000288986:S320L;ENSP00000417273:S320L;ENSP00000419631:S256L;ENSP00000418060:S123L	ENSP00000288986:S320L	S	+	2	0	NCK1	138149810	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.463000	0.80869	2.756000	0.94617	0.655000	0.94253	TCA		0.318	NCK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357307.1		NM_006153		10	18	0	0	0	0.013537	0	10	18		
RAP2B	5912	broad.mit.edu	37	3	152880938	152880938	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:152880938G>A	ENST00000323534.2	+	1	910	c.456G>A	c.(454-456)tcG>tcA	p.S152S	RP11-529G21.2_ENST00000487827.1_RNA	NM_002886.2	NP_002877.2	P61225	RAP2B_HUMAN	RAP2B, member of RAS oncogene family	152					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of protein tyrosine kinase activity (GO:0061097)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			ACAAAGCCTCGGTAGACGAGC	0.642																																						uc003ezr.2		NaN																	0				lung(2)	2						c.(454-456)TCG>TCA		RAP2B, member of RAS oncogene family precursor							33.0	26.0	28.0					3																	152880938		2203	4300	6503	SO:0001819	synonymous_variant	5912				Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity	g.chr3:152880938G>A		CCDS3170.1	3q25.2	2014-05-09			ENSG00000181467	ENSG00000181467			9862	protein-coding gene	gene with protein product	"""Ras-related protein RAP-2B"", ""small GTP binding protein"", ""Ras family small GTP binding protein RAP2B"""	179541				2118648	Standard	NM_002886		Approved		uc003ezr.3	P61225	OTTHUMG00000159655	ENST00000323534.2:c.456G>A	3.37:g.152880938G>A							p.S152S	NM_002886	NP_002877	P61225	RAP2B_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)		1	910	+			152					P17964|Q96EG5|Q9CXG0	Silent	SNP	ENST00000323534.2	37	c.456G>A	CCDS3170.1																																																																																				0.642	RAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356707.1		NM_002886		5	9	0	0	0	0.000602	0	5	9		
RPL22L1	200916	broad.mit.edu	37	3	170584195	170584195	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:170584195C>T	ENST00000295830.8	-	4	658	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	RPL22L1_ENST00000463836.1_Missense_Mutation_p.E114K	NM_001099645.1	NP_001093115.1	Q6P5R6	RL22L_HUMAN	ribosomal protein L22-like 1	115					translation (GO:0006412)	ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	4	all_cancers(22;1.96e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.137)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			GATTCATCTTCATCTTGACTA	0.393																																						uc003fhc.3		NaN																	0					0						c.(343-345)GAA>AAA		ribosomal protein L22-like 1							49.0	45.0	46.0					3																	170584195		1836	4095	5931	SO:0001583	missense	200916				translation	ribosome	structural constituent of ribosome	g.chr3:170584195C>T	BC062731	CCDS46955.1	3q26.2	2005-08-09			ENSG00000163584	ENSG00000163584			27610	protein-coding gene	gene with protein product							Standard	NM_001099645		Approved		uc003fhc.4	Q6P5R6	OTTHUMG00000158957	ENST00000295830.8:c.343G>A	3.37:g.170584195C>T	ENSP00000346080:p.Glu115Lys					RPL22L1_uc003fhb.3_RNA	p.E115K	NM_001099645	NP_001093115	Q6P5R6	RL22L_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		4	432	-	all_cancers(22;1.96e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.137)		115					Q32Q77	Missense_Mutation	SNP	ENST00000295830.8	37	c.343G>A	CCDS46955.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.933836	0.73442	.	.	ENSG00000163584	ENST00000295830;ENST00000466674;ENST00000463836	T;T;T	0.44881	0.91;0.91;0.91	5.37	4.5	0.54988	.	0.251972	0.38436	N	0.001698	T	0.41119	0.1145	M	0.63169	1.94	0.54753	D	0.999989	B	0.02656	0.0	B	0.08055	0.003	T	0.32666	-0.9898	10	0.54805	T	0.06	.	12.1133	0.53852	0.0:0.9205:0.0:0.0795	.	115	Q6P5R6	RL22L_HUMAN	K	115;135;114	ENSP00000346080:E115K;ENSP00000419713:E135K;ENSP00000419041:E114K	ENSP00000346080:E115K	E	-	1	0	RPL22L1	172066889	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.792000	0.85828	1.265000	0.44215	0.313000	0.20887	GAA		0.393	RPL22L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352586.2		XM_114317		4	22	0	0	0	0.000602	0	4	22		
SLC2A2	6514	broad.mit.edu	37	3	170727792	170727792	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:170727792G>C	ENST00000314251.3	-	4	530	c.451C>G	c.(451-453)Cat>Gat	p.H151D	SLC2A2_ENST00000382808.4_Missense_Mutation_p.H32D	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	151					carbohydrate metabolic process (GO:0005975)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transmembrane transport (GO:0035428)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	brush border (GO:0005903)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|hexose transmembrane transporter activity (GO:0015149)			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		Streptozocin(DB00428)	ATAAGTATATGAGATGGTCCC	0.388																																						uc003fhe.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(451-453)CAT>GAT		solute carrier family 2 (facilitated glucose							74.0	74.0	74.0					3																	170727792		2203	4300	6503	SO:0001583	missense	6514				carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity	g.chr3:170727792G>C	J03810	CCDS3215.1	3q26.2-q27	2013-05-22			ENSG00000163581	ENSG00000163581		"""Solute carriers"""	11006	protein-coding gene	gene with protein product		138160		GLUT2		1852621	Standard	NM_000340		Approved		uc003fhe.1	P11168	OTTHUMG00000158997	ENST00000314251.3:c.451C>G	3.37:g.170727792G>C	ENSP00000323568:p.His151Asp					SLC2A2_uc003fhf.1_Intron|SLC2A2_uc011bpu.1_Missense_Mutation_p.H24D	p.H151D	NM_000340	NP_000331	P11168	GTR2_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		4	760	-	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		151			Extracellular (Potential).		A8K481|B2R936|B7Z547|F8W8V8|Q9UCW9	Missense_Mutation	SNP	ENST00000314251.3	37	c.451C>G	CCDS3215.1	.	.	.	.	.	.	.	.	.	.	G	35	5.529580	0.96446	.	.	ENSG00000163581	ENST00000314251;ENST00000382808	T;T	0.80653	-1.4;-1.4	5.52	5.52	0.82312	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.86669	0.5988	M	0.63843	1.955	0.80722	D	1	P	0.52170	0.951	P	0.55871	0.786	D	0.87440	0.2394	10	0.66056	D	0.02	.	19.0524	0.93051	0.0:0.0:1.0:0.0	.	151	P11168	GTR2_HUMAN	D	151;32	ENSP00000323568:H151D;ENSP00000372258:H32D	ENSP00000323568:H151D	H	-	1	0	SLC2A2	172210486	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.417000	0.80156	2.593000	0.87608	0.655000	0.94253	CAT		0.388	SLC2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352834.1		NM_000340		14	24	0	0	0	0.001855	0	14	24		
NCEH1	57552	broad.mit.edu	37	3	172365740	172365740	+	Silent	SNP	G	G	C	rs373507616		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:172365740G>C	ENST00000475381.1	-	2	536	c.303C>G	c.(301-303)ccC>ccG	p.P101P	NCEH1_ENST00000273512.3_Silent_p.P133P|NCEH1_ENST00000538775.1_Silent_p.P133P|NCEH1_ENST00000543711.1_Intron			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	101					lipid catabolic process (GO:0016042)|protein dephosphorylation (GO:0006470)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carboxylic ester hydrolase activity (GO:0052689)|phosphate ion binding (GO:0042301)|serine hydrolase activity (GO:0017171)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						GTGGCTCTTCGGGCTTCGGAG	0.532																																						uc011bpx.1		NaN																	0					0						c.(397-399)CCC>CCG		arylacetamide deacetylase-like 1 isoform a							78.0	70.0	73.0					3																	172365740		2203	4300	6503	SO:0001819	synonymous_variant	57552				lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity	g.chr3:172365740G>C	AB037784	CCDS54681.1, CCDS54682.1	3q26.31	2009-07-23	2009-07-23	2009-07-23	ENSG00000144959	ENSG00000144959			29260	protein-coding gene	gene with protein product		613234	"""arylacetamide deacetylase-like 1"""	AADACL1		10718198	Standard	NM_001146276		Approved	KIAA1363, NCEH	uc011bpx.2	Q6PIU2	OTTHUMG00000156872	ENST00000475381.1:c.303C>G	3.37:g.172365740G>C						NCEH1_uc003fig.2_Silent_p.P133P|NCEH1_uc011bpw.1_5'UTR|NCEH1_uc011bpy.1_Intron	p.P133P	NM_001146276	NP_001139748	Q6PIU2	NCEH1_HUMAN			2	537	-			101			Lumenal (Potential).		B7Z2K4|B7Z3A1|B7Z5U2|B7Z906|B7ZAW6|F5H7K4|Q86WZ1|Q9P2I4	Silent	SNP	ENST00000475381.1	37	c.399C>G		.	.	.	.	.	.	.	.	.	.	G	0.172	-1.070692	0.01918	.	.	ENSG00000144959	ENST00000424772	T	0.58940	0.3	5.66	-11.3	0.00108	.	0.564997	0.21056	N	0.080919	T	0.29817	0.0745	.	.	.	0.20638	N	0.99988	.	.	.	.	.	.	T	0.10706	-1.0618	7	0.27785	T	0.31	-15.8094	1.7956	0.03061	0.2953:0.1589:0.364:0.1819	.	.	.	.	R	124	ENSP00000392934:P124R	ENSP00000392934:P124R	P	-	2	0	NCEH1	173848434	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-2.525000	0.00948	-2.214000	0.00734	-1.259000	0.01468	CCG		0.532	NCEH1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000346367.3		NM_020792		16	46	0	0	0	0.00499	0	16	46		
GNB4	59345	broad.mit.edu	37	3	179119064	179119064	+	Silent	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:179119064T>C	ENST00000232564.3	-	10	1246	c.960A>G	c.(958-960)gtA>gtG	p.V320V	GNB4_ENST00000468623.1_Silent_p.V320V|AC007620.3_ENST00000600539.1_RNA|AC007620.3_ENST00000495081.2_RNA|AC007620.3_ENST00000598857.1_RNA	NM_021629.3	NP_067642.1	Q9HAV0	GBB4_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 4	320					cell death (GO:0008219)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	16	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)			CATCATCAGTTACACCTAAGC	0.383																																					Melanoma(105;1405 1491 7265 20440 33721)	uc003fjv.3		NaN																	0				skin(2)	2						c.(958-960)GTA>GTG		guanine nucleotide-binding protein, beta-4							78.0	70.0	73.0					3																	179119064		2203	4300	6503	SO:0001819	synonymous_variant	59345				cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity	g.chr3:179119064T>C	AF300648	CCDS3230.1	3q27.1	2013-01-10			ENSG00000114450	ENSG00000114450		"""WD repeat domain containing"""	20731	protein-coding gene	gene with protein product		610863				10644457, 11842130	Standard	NM_021629		Approved		uc003fjv.4	Q9HAV0	OTTHUMG00000157440	ENST00000232564.3:c.960A>G	3.37:g.179119064T>C						GNB4_uc003fju.3_3'UTR	p.V320V	NM_021629	NP_067642	Q9HAV0	GBB4_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)		10	1240	-	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		320			WD 7.		B3KMH5|D3DNR8	Silent	SNP	ENST00000232564.3	37	c.960A>G	CCDS3230.1																																																																																				0.383	GNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258218.1		NM_021629		20	29	0	0	0	0.014323	0	20	29		
FXR1	8087	broad.mit.edu	37	3	180630521	180630521	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:180630521C>T	ENST00000357559.4	+	1	432	c.48C>T	c.(46-48)taC>taT	p.Y16Y	FXR1_ENST00000480918.1_5'Flank|FXR1_ENST00000491062.1_Silent_p.Y16Y|FXR1_ENST00000491674.1_Silent_p.Y16Y|FXR1_ENST00000305586.7_5'UTR|FXR1_ENST00000468861.1_5'UTR|FXR1_ENST00000445140.2_Silent_p.Y16Y	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	16	Agenet-like 1.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			GGGCTTTCTACAAGGTACTGA	0.562											OREG0015934	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003fkq.2		NaN																	0				breast(1)	1						c.(46-48)TAC>TAT		fragile X mental retardation-related protein 1							148.0	142.0	144.0					3																	180630521		2203	4300	6503	SO:0001819	synonymous_variant	8087				apoptosis|cell differentiation|muscle organ development	nucleolus|polysome		g.chr3:180630521C>T	M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.48C>T	3.37:g.180630521C>T			OREG0015934	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1963	FXR1_uc003fkp.2_5'UTR|FXR1_uc003fkr.2_Silent_p.Y16Y|FXR1_uc011bqj.1_5'UTR|FXR1_uc003fks.2_5'UTR|FXR1_uc011bqk.1_Silent_p.Y16Y|FXR1_uc011bql.1_5'Flank	p.Y16Y	NM_005087	NP_005078	P51114	FXR1_HUMAN	Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)		1	70	+	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		16					A8K9B8|Q7Z450|Q8N6R8	Silent	SNP	ENST00000357559.4	37	c.48C>T	CCDS3238.1																																																																																				0.562	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350265.5				57	113	0	0	0	0.01441	0	57	113		
KLHL6	89857	broad.mit.edu	37	3	183209963	183209963	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:183209963G>A	ENST00000341319.3	-	7	1653	c.1618C>T	c.(1618-1620)Ctg>Ttg	p.L540L		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	540					B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)					breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			TGGGTCACCAGGCACCAGCTG	0.632																																						uc003flr.2		NaN																	0				haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3						c.(1618-1620)CTG>TTG		kelch-like 6							30.0	30.0	30.0					3																	183209963		2201	4300	6501	SO:0001819	synonymous_variant	89857							g.chr3:183209963G>A	AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"""Kelch-like"", ""BTB/POZ domain containing"""	18653	protein-coding gene	gene with protein product	"""kelch-like protein KLHL6"""	614214	"""kelch-like 6 (Drosophila)"""			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.1618C>T	3.37:g.183209963G>A						KLHL6_uc003fls.1_RNA|KLHL6_uc003flt.1_3'UTR|KLHL6_uc010hxk.1_RNA	p.L540L	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)		7	1676	-	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		540			Kelch 5.		B2RB31|D3DNS8|Q8N5I1|Q8N892	Silent	SNP	ENST00000341319.3	37	c.1618C>T	CCDS3245.2																																																																																				0.632	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309024.1		NM_130446		26	33	0	0	0	0.00333	0	26	33		
ABCC5	10057	broad.mit.edu	37	3	183665178	183665178	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:183665178C>T	ENST00000334444.6	-	23	3588	c.3348G>A	c.(3346-3348)atG>atA	p.M1116I	ABCC5_ENST00000265586.6_Missense_Mutation_p.M1073I	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1116	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	TAAGAACGATCATCAGCCCCG	0.552																																						uc003fmg.2		NaN																	0				ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(3346-3348)ATG>ATA		ATP-binding cassette, sub-family C, member 5							51.0	60.0	57.0					3																	183665178		2071	4195	6266	SO:0001583	missense	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183665178C>T	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.3348G>A	3.37:g.183665178C>T	ENSP00000333926:p.Met1116Ile					ABCC5_uc011bqt.1_Missense_Mutation_p.M644I|ABCC5_uc010hxl.2_Missense_Mutation_p.M1073I	p.M1116I	NM_005688	NP_005679	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		23	3513	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		1116			Helical; (Potential).|ABC transmembrane type-1 2.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	c.3348G>A	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.103425	0.56291	.	.	ENSG00000114770	ENST00000334444;ENST00000265586	D;D	0.88818	-2.43;-1.5	5.63	5.63	0.86233	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.089402	0.85682	D	0.000000	D	0.85936	0.5813	L	0.31294	0.92	0.54753	D	0.999987	B;B	0.26445	0.149;0.032	B;B	0.32149	0.032;0.141	T	0.82200	-0.0575	10	0.46703	T	0.11	-34.6736	19.6816	0.95965	0.0:1.0:0.0:0.0	.	1073;1116	Q86UX3;O15440	.;MRP5_HUMAN	I	1116;1073	ENSP00000333926:M1116I;ENSP00000265586:M1073I	ENSP00000265586:M1073I	M	-	3	0	ABCC5	185147872	1.000000	0.71417	0.993000	0.49108	0.980000	0.70556	3.227000	0.51262	2.654000	0.90174	0.655000	0.94253	ATG		0.552	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1		NM_005688		16	23	0	0	0	0.00499	0	16	23		
CHRD	8646	broad.mit.edu	37	3	184099561	184099561	+	Missense_Mutation	SNP	C	C	T	rs527889467		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:184099561C>T	ENST00000204604.1	+	5	815	c.569C>T	c.(568-570)tCg>tTg	p.S190L	EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000482805.1_3'UTR|CHRD_ENST00000545352.1_5'Flank|CHRD_ENST00000450923.1_Missense_Mutation_p.S190L|CHRD_ENST00000348986.3_Missense_Mutation_p.S190L	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	190	CHRD 1. {ECO:0000255|PROSITE- ProRule:PRU00230}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCCGAGTCTCGCTGCTGCGC	0.662													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15627	0.0		0.0	False		,,,				2504	0.0					uc003fov.2		NaN																	0				skin(2)|ovary(1)	3						c.(568-570)TCG>TTG		chordin precursor																																				SO:0001583	missense	8646				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	g.chr3:184099561C>T	AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.569C>T	3.37:g.184099561C>T	ENSP00000204604:p.Ser190Leu					CHRD_uc003fow.2_5'UTR|CHRD_uc003fox.2_Missense_Mutation_p.S190L|CHRD_uc003foy.2_5'UTR|CHRD_uc010hyc.2_5'UTR|CHRD_uc011brr.1_5'Flank	p.S190L	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		5	815	+	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		190			CHRD 1.		O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	ENST00000204604.1	37	c.569C>T	CCDS3266.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.321080	0.41096	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986	T;T;T	0.46819	0.86;0.86;0.86	5.27	3.13	0.36017	CHRD (3);	0.410909	0.24561	N	0.037461	T	0.26774	0.0655	L	0.31065	0.9	0.09310	N	0.999999	B;P	0.40211	0.426;0.707	B;B	0.32805	0.153;0.121	T	0.09751	-1.0660	10	0.33141	T	0.24	-3.4208	5.2273	0.15401	0.1684:0.6352:0.0:0.1964	.	190;190	E7ESX1;Q9H2X0	.;CHRD_HUMAN	L	190	ENSP00000204604:S190L;ENSP00000408972:S190L;ENSP00000334036:S190L	ENSP00000204604:S190L	S	+	2	0	CHRD	185582255	0.001000	0.12720	0.883000	0.34634	0.990000	0.78478	1.143000	0.31553	1.219000	0.43474	0.561000	0.74099	TCG		0.662	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1		NM_003741		13	26	0	0	0	0.00245	0	13	26		
VPS8	23355	broad.mit.edu	37	3	184612519	184612519	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:184612519A>G	ENST00000437079.3	+	23	1981	c.1810A>G	c.(1810-1812)Aaa>Gaa	p.K604E	VPS8_ENST00000436792.2_Missense_Mutation_p.K602E|VPS8_ENST00000446204.2_Intron|VPS8_ENST00000287546.4_Missense_Mutation_p.K604E	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	604							zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			GATGTATGATAAATTAAGTGA	0.353																																						uc003fpb.1		NaN																	0				ovary(1)	1						c.(1804-1806)AAA>GAA		vacuolar protein sorting 8 homolog isoform b							49.0	45.0	46.0					3																	184612519		1803	4077	5880	SO:0001583	missense	23355						zinc ion binding	g.chr3:184612519A>G	AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"""KIAA0804"""	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.1810A>G	3.37:g.184612519A>G	ENSP00000397879:p.Lys604Glu					VPS8_uc010hyd.1_Intron|VPS8_uc010hye.1_Missense_Mutation_p.K31E	p.K602E	NM_015303	NP_056118	Q8N3P4	VPS8_HUMAN	Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)		22	1975	+	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		604					A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP	ENST00000437079.3	37	c.1804A>G	CCDS46971.1	.	.	.	.	.	.	.	.	.	.	A	16.15	3.040741	0.55003	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792	T;T;T	0.19105	2.17;2.17;2.17	5.7	5.7	0.88788	Quinonprotein alcohol dehydrogenase-like (1);	0.221330	0.48286	D	0.000188	T	0.26011	0.0634	L	0.61218	1.895	0.47778	D	0.999519	B;B	0.27068	0.104;0.167	B;B	0.28011	0.039;0.085	T	0.02484	-1.1152	10	0.30854	T	0.27	-8.6337	15.9724	0.80031	1.0:0.0:0.0:0.0	.	604;602	Q8N3P4;Q8N3P4-3	VPS8_HUMAN;.	E	604;604;602	ENSP00000287546:K604E;ENSP00000397879:K604E;ENSP00000404704:K602E	ENSP00000287546:K604E	K	+	1	0	VPS8	186095213	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.615000	0.61190	2.175000	0.68902	0.477000	0.44152	AAA		0.353	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_015303		3	14	0	0	0	0.009096	0	3	14		
OPA1	4976	broad.mit.edu	37	3	193372785	193372785	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:193372785C>T	ENST00000392438.3	+	20	2216	c.1982C>T	c.(1981-1983)aCt>aTt	p.T661I	OPA1_ENST00000361510.2_Missense_Mutation_p.T716I|OPA1_ENST00000361715.2_Missense_Mutation_p.T680I|OPA1_ENST00000361828.2_Missense_Mutation_p.T679I|OPA1_ENST00000361908.3_Missense_Mutation_p.T698I|OPA1_ENST00000361150.2_Missense_Mutation_p.T662I	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	661					apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		AAACAGTGGACTGATAAACAA	0.368																																						uc003ftm.2		NaN																	0					0						c.(1981-1983)ACT>ATT		optic atrophy 1 isoform 1							87.0	87.0	87.0					3																	193372785		2203	4300	6503	SO:0001583	missense	4976				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding	g.chr3:193372785C>T	AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"""mitochondrial dynamin-like GTPase"", ""dynamin-like guanosine triphosphatase"", ""Dynamin-like 120 kDa protein, mitochondrial"""	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.1982C>T	3.37:g.193372785C>T	ENSP00000376233:p.Thr661Ile					OPA1_uc003ftg.2_Missense_Mutation_p.T716I|OPA1_uc003fth.2_Missense_Mutation_p.T680I|OPA1_uc003fti.2_Missense_Mutation_p.T698I|OPA1_uc003ftj.2_Missense_Mutation_p.T679I|OPA1_uc003ftk.2_Missense_Mutation_p.T662I|OPA1_uc003ftl.2_Missense_Mutation_p.T643I|OPA1_uc003ftn.2_Missense_Mutation_p.T625I	p.T661I	NM_015560	NP_056375	O60313	OPA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)	20	2216	+	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		661			Mitochondrial intermembrane (By similarity).		D3DNW4	Missense_Mutation	SNP	ENST00000392438.3	37	c.1982C>T	CCDS43186.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238857	0.79800	.	.	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150	D;D;D;D;D;D	0.95205	-3.23;-3.23;-3.21;-3.22;-3.22;-3.64	5.83	5.83	0.93111	.	0.085303	0.85682	D	0.000000	D	0.94128	0.8117	L	0.40543	1.245	0.80722	D	1	P;D;P;P;P;P;D;P	0.60575	0.504;0.974;0.504;0.504;0.773;0.673;0.988;0.896	B;P;B;B;B;P;P;P	0.50934	0.231;0.601;0.313;0.313;0.182;0.459;0.654;0.459	D	0.94324	0.7556	10	0.62326	D	0.03	-18.5329	19.0981	0.93263	0.0:1.0:0.0:0.0	.	625;661;643;662;679;698;680;716	E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5	.;OPA1_HUMAN;.;.;.;.;.;.	I	698;661;716;680;679;662	ENSP00000354681:T698I;ENSP00000376233:T661I;ENSP00000355324:T716I;ENSP00000355311:T680I;ENSP00000354429:T679I;ENSP00000354781:T662I	ENSP00000354781:T662I	T	+	2	0	OPA1	194855479	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.818000	0.86416	2.753000	0.94483	0.585000	0.79938	ACT		0.368	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2		NM_130837		14	27	0	0	0	0.008871	0	14	27		
ZNF595	152687	broad.mit.edu	37	4	86807	86807	+	3'UTR	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:86807G>T	ENST00000339368.6	+	0	1616							Q8IYB9	ZN595_HUMAN	zinc finger protein 595						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		ACGAACATAAGAAAATTCATA	0.388																																						uc003fzv.1		NaN																	0					0						c.(1411-1413)AAG>AAT		zinc finger protein 595							36.0	41.0	39.0					4																	86807		2129	4252	6381	SO:0001624	3_prime_UTR_variant	152687				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr4:86807G>T	BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"""Zinc fingers, C2H2-type"", ""-"""	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000339368.6:c.*1613G>T	4.37:g.86807G>T						ZNF595_uc003fzu.1_Intron|ZNF718_uc003fzt.3_Intron|ZNF595_uc011bus.1_Missense_Mutation_p.K239N|ZNF595_uc011but.1_Missense_Mutation_p.K239N	p.K471N	NM_182524	NP_872330	Q7Z3I0	Q7Z3I0_HUMAN		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)	6	1569	+		all_cancers(4;0.0738)|all_epithelial(65;0.139)	471						Missense_Mutation	SNP	ENST00000339368.6	37	c.1413G>T																																																																																					0.388	ZNF595-001	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000357814.2		NM_182524		4	19	1	0	0.00024832	0.009096	0.000257894	4	19		
ZNF595	152687	broad.mit.edu	37	4	87051	87051	+	3'UTR	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:87051G>C	ENST00000339368.6	+	0	1860							Q8IYB9	ZN595_HUMAN	zinc finger protein 595						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		AGCCCTGAATGAACATAAGAA	0.378																																						uc003fzv.1		NaN																	0					0						c.(1657-1659)GAA>CAA		zinc finger protein 595							48.0	54.0	52.0					4																	87051		2095	4241	6336	SO:0001624	3_prime_UTR_variant	152687				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr4:87051G>C	BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"""Zinc fingers, C2H2-type"", ""-"""	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000339368.6:c.*1857G>C	4.37:g.87051G>C						ZNF595_uc003fzu.1_Intron|ZNF718_uc003fzt.3_Intron|ZNF595_uc011bus.1_Missense_Mutation_p.E321Q|ZNF595_uc011but.1_Missense_Mutation_p.E321Q	p.E553Q	NM_182524	NP_872330	Q7Z3I0	Q7Z3I0_HUMAN		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)	6	1813	+		all_cancers(4;0.0738)|all_epithelial(65;0.139)	553						Missense_Mutation	SNP	ENST00000339368.6	37	c.1657G>C																																																																																					0.378	ZNF595-001	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000357814.2		NM_182524		10	33	0	0	0	0.008291	0	10	33		
FAM193A	8603	broad.mit.edu	37	4	2664635	2664635	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:2664635G>A	ENST00000324666.5	+	9	1294	c.943G>A	c.(943-945)Gat>Aat	p.D315N	FAM193A_ENST00000502458.1_Missense_Mutation_p.D337N|FAM193A_ENST00000382839.3_Missense_Mutation_p.D315N|FAM193A_ENST00000545951.1_Missense_Mutation_p.D315N|FAM193A_ENST00000505311.1_Missense_Mutation_p.D315N	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	315										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GAGTAATTATGATGATACCGA	0.453																																						uc010icl.2		NaN																	0				ovary(3)	3						c.(943-945)GAT>AAT		hypothetical protein LOC8603							170.0	166.0	167.0					4																	2664635		2203	4300	6503	SO:0001583	missense	8603							g.chr4:2664635G>A	AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.943G>A	4.37:g.2664635G>A	ENSP00000324587:p.Asp315Asn					FAM193A_uc010ick.2_Missense_Mutation_p.D515N|FAM193A_uc003gfd.2_Missense_Mutation_p.D315N|FAM193A_uc011bvm.1_Missense_Mutation_p.D337N|FAM193A_uc011bvn.1_Missense_Mutation_p.D315N|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Missense_Mutation_p.D169N	p.D315N	NM_003704	NP_003695	P78312	F193A_HUMAN			9	1294	+			315					B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	ENST00000324666.5	37	c.943G>A	CCDS58875.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.133731	0.37630	.	.	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458;ENST00000513350	T;T;T;T;T	0.31510	1.5;1.9;1.49;1.5;1.49	5.94	4.23	0.50019	.	0.195319	0.53938	N	0.000052	T	0.28732	0.0712	L	0.47716	1.5	0.46185	D	0.998912	B;B;B;B;B	0.14438	0.005;0.01;0.01;0.005;0.005	B;B;B;B;B	0.16722	0.011;0.011;0.016;0.011;0.011	T	0.06409	-1.0828	10	0.87932	D	0	-12.1702	11.6693	0.51391	0.1414:0.0:0.8586:0.0	.	315;337;315;337;315	B9EGR0;E9PFA1;P78312;B7ZM85;P78312-2	.;.;F193A_HUMAN;.;.	N	315;315;315;337;169	ENSP00000372290:D315N;ENSP00000324587:D315N;ENSP00000443617:D315N;ENSP00000427505:D337N;ENSP00000427260:D169N	ENSP00000324587:D315N	D	+	1	0	FAM193A	2634433	1.000000	0.71417	0.016000	0.15963	0.194000	0.23727	4.861000	0.62969	0.860000	0.35481	0.650000	0.86243	GAT		0.453	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1		NM_003704		18	45	0	0	0	0.006122	0	18	45		
JAKMIP1	152789	broad.mit.edu	37	4	6107461	6107461	+	Silent	SNP	G	G	A	rs573517329		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:6107461G>A	ENST00000282924.5	-	3	848	c.363C>T	c.(361-363)cgC>cgT	p.R121R	JAKMIP1_ENST00000410077.2_Intron|JAKMIP1_ENST00000409021.3_Silent_p.R121R|JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000409831.1_Silent_p.R121R|JAKMIP1_ENST00000457227.2_Intron	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	121	Mediates association with microtubules.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCGCGCCGTCGCGCAGCACGT	0.726													G|||	1	0.000199681	0.0008	0.0	5008	,	,		12013	0.0		0.0	False		,,,				2504	0.0					uc003giu.3		NaN																	0				large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						c.(361-363)CGC>CGT		janus kinase and microtubule interacting protein							10.0	12.0	11.0					4																	6107461		2185	4229	6414	SO:0001819	synonymous_variant	152789				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	g.chr4:6107461G>A	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.363C>T	4.37:g.6107461G>A						JAKMIP1_uc010idb.1_Silent_p.R121R|JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Silent_p.R121R|JAKMIP1_uc011bwc.1_Intron|JAKMIP1_uc003giv.3_Silent_p.R121R|JAKMIP1_uc010ide.2_Silent_p.R121R	p.R121R	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN			3	639	-			121			Potential.|Mediates association with microtubules.		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Silent	SNP	ENST00000282924.5	37	c.363C>T	CCDS3385.1																																																																																				0.726	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2		NM_144720		6	11	0	0	0	0.001984	0	6	11		
ABLIM2	84448	broad.mit.edu	37	4	8021986	8021986	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:8021986C>T	ENST00000341937.5	-	12	1277	c.1213G>A	c.(1213-1215)Gac>Aac	p.D405N	ABLIM2_ENST00000514025.1_Intron|ABLIM2_ENST00000545242.1_Missense_Mutation_p.D405N|ABLIM2_ENST00000428004.2_Intron|ABLIM2_ENST00000447017.2_Missense_Mutation_p.D438N|ABLIM2_ENST00000546334.1_Intron|ABLIM2_ENST00000318888.4_Intron|ABLIM2_ENST00000361737.5_Intron|ABLIM2_ENST00000505872.1_Intron|ABLIM2_ENST00000515079.1_5'UTR|ABLIM2_ENST00000407564.3_Intron|ABLIM2_ENST00000296372.8_Missense_Mutation_p.D405N|ABLIM2_ENST00000361581.5_Missense_Mutation_p.D405N|RP11-338K13.1_ENST00000608962.1_RNA	NM_001130084.1	NP_001123556.1	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	405					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|myofibril (GO:0030016)	zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						GGCTTGCTGTCAGAGAGCACG	0.622																																						uc003gko.2		NaN																	0				pancreas(3)	3						c.(1213-1215)GAC>AAC		actin binding LIM protein family, member 2							31.0	36.0	35.0					4																	8021986		1568	3582	5150	SO:0001583	missense	84448				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding	g.chr4:8021986C>T	AB058711	CCDS47011.1, CCDS47012.1, CCDS47013.1, CCDS47014.1, CCDS47015.1, CCDS47016.1, CCDS54719.1, CCDS68669.1	4p16.1	2012-05-16			ENSG00000163995	ENSG00000163995			19195	protein-coding gene	gene with protein product		612544	"""actin binding LIM protein 2"""				Standard	NM_001130083		Approved	KIAA1808	uc003gkj.4	Q6H8Q1	OTTHUMG00000057427	ENST00000341937.5:c.1213G>A	4.37:g.8021986C>T	ENSP00000342813:p.Asp405Asn					ABLIM2_uc003gkk.2_Missense_Mutation_p.D68N|ABLIM2_uc003gkl.2_Intron|ABLIM2_uc003gkj.3_Missense_Mutation_p.D438N|ABLIM2_uc003gkm.3_Intron|ABLIM2_uc003gkp.2_Intron|ABLIM2_uc003gkq.2_Missense_Mutation_p.D405N|ABLIM2_uc003gkr.2_Intron|ABLIM2_uc003gks.3_Intron	p.D405N	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN			12	1356	-			405					E9PF39|Q08E71|Q19VH0|Q6H8Q0|Q6NX73|Q8N3C5|Q8N9E9|Q8N9G2|Q96JL7	Missense_Mutation	SNP	ENST00000341937.5	37	c.1213G>A	CCDS47013.1	.	.	.	.	.	.	.	.	.	.	C	33	5.196203	0.94960	.	.	ENSG00000163995	ENST00000400045;ENST00000296372;ENST00000545242;ENST00000447017;ENST00000341937;ENST00000361581;ENST00000510277	T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8	5.02	5.02	0.67125	.	0.390690	0.08080	U	1.000000	T	0.63815	0.2543	L	0.60455	1.87	0.80722	D	1	D;P;D;D	0.62365	0.986;0.95;0.986;0.991	P;P;P;P	0.60949	0.839;0.821;0.839;0.881	T	0.51188	-0.8737	10	0.19590	T	0.45	.	16.5334	0.84366	0.0:1.0:0.0:0.0	.	405;405;405;438	Q6H8Q1-2;Q6H8Q1;Q6H8Q1-5;E9PF39	.;ABLM2_HUMAN;.;.	N	438;405;405;438;405;405;206	ENSP00000296372:D405N;ENSP00000441255:D405N;ENSP00000393511:D438N;ENSP00000342813:D405N;ENSP00000355003:D405N;ENSP00000421718:D206N	ENSP00000296372:D405N	D	-	1	0	ABLIM2	8072886	1.000000	0.71417	0.976000	0.42696	0.929000	0.56500	6.872000	0.75536	2.335000	0.79485	0.561000	0.74099	GAC		0.622	ABLIM2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358862.2		NM_001130083		7	27	0	0	0	0.001984	0	7	27		
FAM114A1	92689	broad.mit.edu	37	4	38916603	38916603	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:38916603G>C	ENST00000358869.2	+	8	1030	c.854G>C	c.(853-855)aGa>aCa	p.R285T	FAM114A1_ENST00000515037.1_Missense_Mutation_p.R78T	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN	family with sequence similarity 114, member A1	285						cytoplasm (GO:0005737)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						ACGATGGAGAGAACCGCGCAC	0.468																																						uc003gtn.2		NaN																	0				ovary(1)	1						c.(853-855)AGA>ACA		hypothetical protein LOC92689							113.0	97.0	103.0					4																	38916603		2203	4300	6503	SO:0001583	missense	92689					cytoplasm		g.chr4:38916603G>C		CCDS3447.1	4p14	2006-09-21			ENSG00000197712	ENSG00000197712			25087	protein-coding gene	gene with protein product							Standard	NM_138389		Approved	Noxp20	uc003gtn.3	Q8IWE2	OTTHUMG00000128583	ENST00000358869.2:c.854G>C	4.37:g.38916603G>C	ENSP00000351740:p.Arg285Thr					FAM114A1_uc011byh.1_Missense_Mutation_p.R78T	p.R285T	NM_138389	NP_612398	Q8IWE2	NXP20_HUMAN			8	1030	+			285					A8K9W6|Q6MZV4|Q9BVL6	Missense_Mutation	SNP	ENST00000358869.2	37	c.854G>C	CCDS3447.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.722993	0.48728	.	.	ENSG00000197712	ENST00000515037;ENST00000358869;ENST00000355404	T;T	0.44881	0.91;0.91	5.95	5.95	0.96441	.	0.087466	0.85682	D	0.000000	T	0.61590	0.2359	M	0.71581	2.175	0.50632	D	0.999885	D	0.63046	0.992	D	0.65323	0.934	T	0.60541	-0.7243	10	0.49607	T	0.09	-23.3682	14.537	0.67969	0.0694:0.0:0.9306:0.0	.	285	Q8IWE2	NXP20_HUMAN	T	78;285;78	ENSP00000424115:R78T;ENSP00000351740:R285T	ENSP00000347569:R78T	R	+	2	0	FAM114A1	38592998	1.000000	0.71417	0.995000	0.50966	0.133000	0.20885	2.930000	0.48924	2.827000	0.97445	0.650000	0.86243	AGA		0.468	FAM114A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250436.1		NM_138389		13	21	0	0	0	0.00245	0	13	21		
N4BP2	55728	broad.mit.edu	37	4	40104102	40104102	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:40104102A>C	ENST00000261435.6	+	4	1053	c.637A>C	c.(637-639)Aac>Cac	p.N213H		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	213					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TTTAAGTTTAAACCCATTACC	0.328																																						uc003guy.3		NaN																	0				lung(3)|breast(2)|kidney(2)|ovary(1)	8						c.(637-639)AAC>CAC		Nedd4 binding protein 2							44.0	46.0	46.0					4																	40104102		2192	4298	6490	SO:0001583	missense	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40104102A>C	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.637A>C	4.37:g.40104102A>C	ENSP00000261435:p.Asn213His					N4BP2_uc010ifq.2_Missense_Mutation_p.N133H|N4BP2_uc010ifr.2_Missense_Mutation_p.N133H	p.N213H	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN			4	975	+			213					A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	c.637A>C	CCDS3457.1	.	.	.	.	.	.	.	.	.	.	A	7.001	0.554938	0.13436	.	.	ENSG00000078177	ENST00000261435;ENST00000381804;ENST00000515550	T;T	0.80566	-1.39;-1.39	5.44	1.71	0.24356	.	0.756499	0.13387	N	0.391683	T	0.80003	0.4544	L	0.29908	0.895	0.27980	N	0.93608	D;D	0.63880	0.993;0.989	P;P	0.61592	0.891;0.781	T	0.69734	-0.5065	10	0.49607	T	0.09	-3.4585	8.9096	0.35546	0.762:0.0:0.238:0.0	.	213;213	Q86UW6-2;Q86UW6	.;N4BP2_HUMAN	H	213;133;133	ENSP00000261435:N213H;ENSP00000422057:N133H	ENSP00000261435:N213H	N	+	1	0	N4BP2	39780497	0.491000	0.26019	0.840000	0.33206	0.017000	0.09413	0.457000	0.21875	0.505000	0.28104	-0.256000	0.11100	AAC		0.328	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2		NM_018177		10	19	0	0	0	0.006214	0	10	19		
UGT2A3	79799	broad.mit.edu	37	4	69796299	69796299	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:69796299T>G	ENST00000251566.4	-	5	1299	c.1269A>C	c.(1267-1269)ttA>ttC	p.L423F	UGT2A3_ENST00000420231.2_Missense_Mutation_p.L134F	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	423					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AAGCCCTCAGTAAATCTTCGC	0.383																																						uc003hef.2		NaN																	0				ovary(1)|skin(1)	2						c.(1267-1269)TTA>TTC		UDP glucuronosyltransferase 2 family,							168.0	167.0	167.0					4																	69796299		2203	4300	6503	SO:0001583	missense	79799					integral to membrane	glucuronosyltransferase activity	g.chr4:69796299T>G		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.1269A>C	4.37:g.69796299T>G	ENSP00000251566:p.Leu423Phe					UGT2A3_uc010ihp.1_RNA	p.L423F	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN			5	1300	-			423			Extracellular (Potential).		Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	c.1269A>C	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	T	6.313	0.425787	0.11987	.	.	ENSG00000135220	ENST00000251566;ENST00000420231	T;T	0.71341	-0.56;2.76	1.99	1.07	0.20283	.	0.083576	0.48286	D	0.000184	T	0.59046	0.2165	M	0.62266	1.93	0.09310	N	0.999996	P	0.37594	0.601	B	0.35073	0.195	T	0.54603	-0.8269	10	0.56958	D	0.05	.	3.0072	0.06032	0.0:0.5082:0.288:0.2037	.	423	Q6UWM9	UD2A3_HUMAN	F	423;134	ENSP00000251566:L423F;ENSP00000440115:L134F	ENSP00000251566:L423F	L	-	3	2	UGT2A3	69830888	0.000000	0.05858	0.053000	0.19242	0.039000	0.13416	-2.615000	0.00882	0.135000	0.18707	-0.415000	0.06103	TTA		0.383	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1		NM_024743		13	71	0	0	0	0.001855	0	13	71		
UGT2B7	7364	broad.mit.edu	37	4	69962754	69962754	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:69962754C>T	ENST00000508661.1	+	1	543	c.516C>T	c.(514-516)ctC>ctT	p.L172L	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000305231.7_Silent_p.L172L			P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	172					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	TGTACAGTCTCAGCTTCTCTC	0.398																																						uc003heg.3		NaN																	0				ovary(1)|skin(1)	2						c.(514-516)CTC>CTT		UDP glucuronosyltransferase 2B7 precursor							130.0	130.0	130.0					4																	69962754		2203	4298	6501	SO:0001819	synonymous_variant	7364				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69962754C>T	BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"""UDP glucuronosyltransferases"""	12554	protein-coding gene	gene with protein product		600068	"""UDP glycosyltransferase 2 family, polypeptide B7"""			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000508661.1:c.516C>T	4.37:g.69962754C>T						UGT2B7_uc010ihq.2_Silent_p.L172L	p.L172L	NM_001074	NP_001065	P16662	UD2B7_HUMAN			1	562	+			172					B2R810|Q6GTW0	Silent	SNP	ENST00000508661.1	37	c.516C>T																																																																																					0.398	UGT2B7-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000362103.1		NM_001074		19	65	0	0	0	0.008871	0	19	65		
FRAS1	80144	broad.mit.edu	37	4	79430001	79430001	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:79430001C>T	ENST00000264895.6	+	63	10061	c.9621C>T	c.(9619-9621)ccC>ccT	p.P3207P		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3203					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CTCATTTCCCCAGATACGCTG	0.572																																						uc003hlb.2		NaN																	0				large_intestine(5)	5						c.(9619-9621)CCC>CCT		Fraser syndrome 1							53.0	57.0	55.0					4																	79430001		2036	4209	6245	SO:0001819	synonymous_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79430001C>T	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.9621C>T	4.37:g.79430001C>T						FRAS1_uc003hlc.1_Silent_p.P209P	p.P3207P	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			63	10061	+			3202			Extracellular (Potential).		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000264895.6	37	c.9621C>T	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	C	7.408	0.634177	0.14322	.	.	ENSG00000138759	ENST00000512123	.	.	.	5.63	0.709	0.18150	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.8298	0.13434	0.2292:0.5255:0.0:0.2453	.	.	.	.	X	1436	.	.	Q	+	1	0	FRAS1	79649025	0.030000	0.19436	0.390000	0.26220	0.782000	0.44232	-0.806000	0.04525	0.065000	0.16485	-0.191000	0.12829	CAG		0.572	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding					4	13	0	0	0	0.009096	0	4	13		
FRAS1	80144	broad.mit.edu	37	4	79430151	79430151	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:79430151C>T	ENST00000264895.6	+	63	10211	c.9771C>T	c.(9769-9771)gtC>gtT	p.V3257V		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3253					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCACCAGTGTCAACCACATGG	0.532																																						uc003hlb.2		NaN																	0				large_intestine(5)	5						c.(9769-9771)GTC>GTT		Fraser syndrome 1							79.0	77.0	78.0					4																	79430151		1959	4155	6114	SO:0001819	synonymous_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79430151C>T	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.9771C>T	4.37:g.79430151C>T						FRAS1_uc003hlc.1_Silent_p.V259V	p.V3257V	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			63	10211	+			3252			Extracellular (Potential).		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000264895.6	37	c.9771C>T	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	C	9.276	1.046948	0.19748	.	.	ENSG00000138759	ENST00000512123	.	.	.	5.48	4.64	0.57946	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0625	0.64808	0.0:0.927:0.0:0.073	.	.	.	.	X	1486	.	.	Q	+	1	0	FRAS1	79649175	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.841000	0.55850	1.317000	0.45149	0.591000	0.81541	CAA		0.532	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding					12	48	0	0	0	0.001855	0	12	48		
TIGD2	166815	broad.mit.edu	37	4	90034836	90034836	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:90034836C>T	ENST00000317005.2	+	1	869	c.711C>T	c.(709-711)ttC>ttT	p.F237F	RP11-84C13.1_ENST00000603357.1_lincRNA|FAM13A_ENST00000502459.1_5'Flank	NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	237	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		CCCGAGCATTCAAAGGCACTG	0.418																																						uc003hsk.2		NaN																	0					0						c.(709-711)TTC>TTT		tigger transposable element derived 2							65.0	65.0	65.0					4																	90034836		2203	4300	6503	SO:0001819	synonymous_variant	166815				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr4:90034836C>T	AK027653	CCDS3633.1	4q21.3	2013-02-21			ENSG00000180346	ENSG00000180346			18333	protein-coding gene	gene with protein product		612973					Standard	NM_145715		Approved		uc003hsk.3	Q4W5G0	OTTHUMG00000130946	ENST00000317005.2:c.711C>T	4.37:g.90034836C>T						FAM13A_uc003hsh.1_5'Flank	p.F237F	NM_145715	NP_663761	Q4W5G0	TIGD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)	1	869	+		Hepatocellular(203;0.114)	237			DDE.			Silent	SNP	ENST00000317005.2	37	c.711C>T	CCDS3633.1																																																																																				0.418	TIGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253545.2		NM_145715		10	32	0	0	0	0.006214	0	10	32		
BMPR1B	658	broad.mit.edu	37	4	96045003	96045003	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:96045003C>T	ENST00000515059.1	+	7	675	c.392C>T	c.(391-393)tCt>tTt	p.S131F	BMPR1B_ENST00000440890.2_Missense_Mutation_p.S161F|BMPR1B_ENST00000394931.1_Missense_Mutation_p.S131F|BMPR1B_ENST00000264568.4_Missense_Mutation_p.S131F	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	131					BMP signaling pathway (GO:0030509)|cartilage condensation (GO:0001502)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|eye development (GO:0001654)|inflammatory response (GO:0006954)|limb morphogenesis (GO:0035108)|ovarian cumulus expansion (GO:0001550)|ovulation cycle (GO:0042698)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell differentiation (GO:0045597)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|skeletal system development (GO:0001501)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		TTACTTATATCTGTGACTGTC	0.294																																						uc003htm.3		NaN																	0				lung(4)|skin(2)|stomach(1)|breast(1)	8						c.(391-393)TCT>TTT		bone morphogenetic protein receptor, type IB							208.0	207.0	207.0					4																	96045003		2203	4296	6499	SO:0001583	missense	658				BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity	g.chr4:96045003C>T	D89675	CCDS3642.1, CCDS58919.1	4q23-q24	2008-02-05			ENSG00000138696	ENSG00000138696		"""CD molecules"""	1077	protein-coding gene	gene with protein product		603248				8140412, 9730621	Standard	NM_001203		Approved	ALK6, CDw293	uc031sgn.1	O00238	OTTHUMG00000130991	ENST00000515059.1:c.392C>T	4.37:g.96045003C>T	ENSP00000426617:p.Ser131Phe					BMPR1B_uc010ilb.2_Missense_Mutation_p.S131F|BMPR1B_uc003htn.3_Missense_Mutation_p.S131F	p.S131F	NM_001203	NP_001194	O00238	BMR1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)	7	666	+		Hepatocellular(203;0.114)	131			Helical; (Potential).		B2R953|B4DSV1|P78366	Missense_Mutation	SNP	ENST00000515059.1	37	c.392C>T	CCDS3642.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.028460	0.93518	.	.	ENSG00000138696	ENST00000515059;ENST00000512312;ENST00000509540;ENST00000440890;ENST00000264568;ENST00000394931	D;D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.64;-1.66;-1.66	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.90933	0.7150	M	0.81802	2.56	0.80722	D	1	D	0.56746	0.977	D	0.64687	0.928	D	0.89247	0.3588	10	0.33141	T	0.24	.	19.4915	0.95052	0.0:1.0:0.0:0.0	.	131	O00238	BMR1B_HUMAN	F	131;131;131;161;131;131	ENSP00000426617:S131F;ENSP00000425444:S131F;ENSP00000421671:S131F;ENSP00000401907:S161F;ENSP00000264568:S131F;ENSP00000378389:S131F	ENSP00000264568:S131F	S	+	2	0	BMPR1B	96264026	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.038000	0.76537	2.616000	0.88540	0.555000	0.69702	TCT		0.294	BMPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253609.3		NM_001203		30	71	0	0	0	0.004289	0	30	71		
ADH4	127	broad.mit.edu	37	4	100047780	100047780	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:100047780G>A	ENST00000265512.7	-	8	1157	c.1083C>T	c.(1081-1083)atC>atT	p.I361I	ADH4_ENST00000423445.1_Silent_p.I380I|RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000505590.1_Silent_p.I380I|ADH4_ENST00000508393.1_Silent_p.I380I	NM_000670.3	NP_000661.2	P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	361					alcohol catabolic process (GO:0046164)|alcohol metabolic process (GO:0006066)|cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|quinone metabolic process (GO:1901661)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|all-trans retinal binding (GO:0005503)|benzaldehyde dehydrogenase activity (GO:0019115)|ethanol binding (GO:0035276)|NAD binding (GO:0051287)|NADPH:quinone reductase activity (GO:0003960)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)		ATGCCTCACTGATTTTGTCAA	0.353																																						uc003hun.2		NaN																	0				skin(2)	2						c.(1081-1083)ATC>ATT		class II alcohol dehydrogenase, pi subunit	NADH(DB00157)						146.0	142.0	144.0					4																	100047780		2203	4300	6503	SO:0001819	synonymous_variant	127				alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding	g.chr4:100047780G>A	M15943	CCDS34032.1	4q22	2008-02-05				ENSG00000198099	1.1.1.1	"""Alcohol dehydrogenases"""	252	protein-coding gene	gene with protein product		103740					Standard	NM_000670		Approved	ADH-2	uc003hun.3	P08319		ENST00000265512.7:c.1083C>T	4.37:g.100047780G>A						uc003hum.1_Intron|ADH4_uc011ced.1_Silent_p.I380I	p.I361I	NM_000670	NP_000661	P08319	ADH4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	8	1159	-			361					A8K470|B4DIE7|C9J4A9|Q8TCD7	Silent	SNP	ENST00000265512.7	37	c.1083C>T	CCDS34032.1																																																																																				0.353	ADH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364220.2		NM_000670		17	46	0	0	0	0.014323	0	17	46		
PPP3CA	5530	broad.mit.edu	37	4	101947192	101947192	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:101947192T>C	ENST00000394854.3	-	14	2079	c.1396A>G	c.(1396-1398)Aag>Gag	p.K466E	PPP3CA_ENST00000512215.1_Missense_Mutation_p.K234E|PPP3CA_ENST00000323055.6_Missense_Mutation_p.K414E|PPP3CA_ENST00000523694.2_Missense_Mutation_p.K399E|PPP3CA_ENST00000507176.1_Missense_Mutation_p.K368E|PPP3CA_ENST00000394853.4_Missense_Mutation_p.K456E	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	466	Inhibitory domain.				calcineurin-NFAT signaling cascade (GO:0033173)|calcium ion transport (GO:0006816)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|multicellular organismal response to stress (GO:0033555)|negative regulation of insulin secretion (GO:0046676)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|protein import into nucleus (GO:0006606)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic transmission (GO:0050804)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|skeletal muscle fiber development (GO:0048741)|T cell activation (GO:0042110)|transition between fast and slow fiber (GO:0014883)	calcineurin complex (GO:0005955)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		CTAGTGATCTTATGTTGTGGT	0.443																																						uc011cen.1		NaN																	0				ovary(1)|skin(1)	2						c.(1396-1398)AAG>GAG		protein phosphatase 3, catalytic subunit, alpha							124.0	121.0	122.0					4																	101947192		2203	4300	6503	SO:0001583	missense	5530				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding	g.chr4:101947192T>C		CCDS34037.1, CCDS47113.1, CCDS47114.1	4q24	2010-03-17	2010-03-05		ENSG00000138814	ENSG00000138814	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9314	protein-coding gene	gene with protein product	"""calcineurin A alpha"", ""protein phosphatase 2B, catalytic subunit, alpha isoform"""	114105	"""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform (calcineurin A alpha)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform"""	CALN, CALNA		2848250, 1659808	Standard	NM_000944		Approved	CNA1, PPP2B	uc011cen.1	Q08209	OTTHUMG00000133839	ENST00000394854.3:c.1396A>G	4.37:g.101947192T>C	ENSP00000378323:p.Lys466Glu					PPP3CA_uc003hvu.2_Missense_Mutation_p.K456E|PPP3CA_uc010ilj.2_Missense_Mutation_p.K414E|PPP3CA_uc003hvt.2_Missense_Mutation_p.K443E|PPP3CA_uc003hvs.2_Missense_Mutation_p.K399E|PPP3CA_uc010ilk.2_Missense_Mutation_p.K234E	p.K466E	NM_000944	NP_000935	Q08209	PP2BA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)	14	2071	-			466			Inhibitory domain.		A1A441|A8K3B7|A8W6Z7|A8W6Z8|B5BUA2|Q8TAW9	Missense_Mutation	SNP	ENST00000394854.3	37	c.1396A>G	CCDS34037.1	.	.	.	.	.	.	.	.	.	.	T	14.37	2.515132	0.44763	.	.	ENSG00000138814	ENST00000512215;ENST00000394854;ENST00000323055;ENST00000394853;ENST00000507176;ENST00000523694	T;T;T;T;T;T	0.05382	3.45;3.45;3.45;3.45;3.45;3.45	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.10766	0.0263	L	0.52759	1.655	0.80722	D	1	B;B;B;B;B;B	0.17667	0.023;0.007;0.005;0.008;0.001;0.001	B;B;B;B;B;B	0.32211	0.015;0.142;0.01;0.014;0.002;0.003	T	0.11299	-1.0593	10	0.33141	T	0.24	-18.5189	16.1415	0.81528	0.0:0.0:0.0:1.0	.	466;234;414;456;368;399	Q08209;A8W6Z8;A8W6Z7;Q08209-2;E7ETC2;A1A441	PP2BA_HUMAN;.;.;.;.;.	E	234;466;414;456;368;399	ENSP00000422781:K234E;ENSP00000378323:K466E;ENSP00000320580:K414E;ENSP00000378322:K456E;ENSP00000422990:K368E;ENSP00000429350:K399E	ENSP00000320580:K414E	K	-	1	0	PPP3CA	102166215	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.748000	0.85085	2.198000	0.70561	0.533000	0.62120	AAG		0.443	PPP3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258379.2		NM_000944		14	42	0	0	0	0.004007	0	14	42		
NFKB1	4790	broad.mit.edu	37	4	103534637	103534637	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:103534637C>T	ENST00000505458.1	+	23	2922	c.2645C>T	c.(2644-2646)aCc>aTc	p.T882I	NFKB1_ENST00000394820.4_Missense_Mutation_p.T882I|NFKB1_ENST00000226574.4_Missense_Mutation_p.T883I|NFKB1_ENST00000600343.1_Missense_Mutation_p.T702I			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	882	Death.|Interaction with CFLAR.				apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	ATGGGCTACACCGAAGCAATT	0.562																																						uc011ceq.1		NaN																	0				ovary(2)|breast(2)|skin(1)	5						c.(2644-2646)ACC>ATC		nuclear factor kappa-B, subunit 1 isoform 1	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)						77.0	64.0	68.0					4																	103534637		2203	4300	6503	SO:0001583	missense	4790				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr4:103534637C>T	M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"""Ankyrin repeat domain containing"""	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.2645C>T	4.37:g.103534637C>T	ENSP00000424790:p.Thr882Ile					NFKB1_uc011cep.1_Missense_Mutation_p.T883I|NFKB1_uc011cer.1_Missense_Mutation_p.T702I	p.T882I	NM_003998	NP_003989	P19838	NFKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	23	3112	+		Hepatocellular(203;0.217)	882			Death.|Interaction with CFLAR.		A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Missense_Mutation	SNP	ENST00000505458.1	37	c.2645C>T	CCDS54783.1	.	.	.	.	.	.	.	.	.	.	C	9.498	1.102545	0.20632	.	.	ENSG00000109320	ENST00000226574;ENST00000394820;ENST00000505458	T;T;T	0.19806	2.12;2.12;2.12	5.32	2.67	0.31697	Death (2);DEATH-like (2);	0.505264	0.19462	N	0.113680	T	0.29423	0.0733	L	0.36672	1.1	0.25835	N	0.984126	D;D;D	0.76494	0.999;0.998;0.994	D;D;P	0.72982	0.979;0.966;0.899	T	0.06338	-1.0832	10	0.42905	T	0.14	-0.964	5.9229	0.19093	0.1527:0.6891:0.0:0.1582	.	702;882;883	B3KVE8;P19838;P19838-2	.;NFKB1_HUMAN;.	I	883;882;882	ENSP00000226574:T883I;ENSP00000378297:T882I;ENSP00000424790:T882I	ENSP00000226574:T883I	T	+	2	0	NFKB1	103753683	0.929000	0.31497	0.213000	0.23690	0.060000	0.15804	1.773000	0.38563	0.247000	0.21414	-0.912000	0.02778	ACC		0.562	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363411.1				4	27	0	0	0	0.009096	0	4	27		
GAR1	54433	broad.mit.edu	37	4	110737358	110737358	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:110737358G>C	ENST00000226796.6	+	2	302	c.38G>C	c.(37-39)cGa>cCa	p.R13P	GAR1_ENST00000394631.3_Missense_Mutation_p.R13P|RP11-602N24.3_ENST00000609440.1_lincRNA	NM_018983.3	NP_061856.1	Q9NY12	GAR1_HUMAN	GAR1 ribonucleoprotein	13	RGG-box 1.				cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|pseudouridine synthesis (GO:0001522)|rRNA processing (GO:0006364)	box H/ACA snoRNP complex (GO:0031429)|nucleolus (GO:0005730)|nucleus (GO:0005634)	cation channel activity (GO:0005261)|poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9						GGCTTTAATCGAggtggtgga	0.577																																						uc003hzt.2		NaN																	0					0						c.(37-39)CGA>CCA		nucleolar protein family A, member 1							60.0	66.0	64.0					4																	110737358		2203	4300	6503	SO:0001583	missense	54433				rRNA processing|snRNA pseudouridine synthesis	box H/ACA snoRNP complex|Cajal body	cation channel activity|pseudouridine synthase activity|snoRNA binding	g.chr4:110737358G>C	AJ276003	CCDS34050.1	4q	2013-07-31	2013-07-31	2008-10-13	ENSG00000109534	ENSG00000109534			14264	protein-coding gene	gene with protein product		606468	"""nucleolar protein family A, member 1 (H/ACA small nucleolar RNPs)"", ""GAR1 ribonucleoprotein homolog (yeast)"""	NOLA1		10757788	Standard	XM_005263069		Approved		uc003hzu.3	Q9NY12	OTTHUMG00000161108	ENST00000226796.6:c.38G>C	4.37:g.110737358G>C	ENSP00000226796:p.Arg13Pro					GAR1_uc003hzu.2_Missense_Mutation_p.R13P|GAR1_uc010imh.1_Missense_Mutation_p.R13P|GAR1_uc010imi.2_Missense_Mutation_p.R13P	p.R13P	NM_018983	NP_061856	Q9NY12	GAR1_HUMAN			2	345	+			13			RGG-box 1.		Q5MJQ2	Missense_Mutation	SNP	ENST00000226796.6	37	c.38G>C	CCDS34050.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.987507	0.35036	.	.	ENSG00000109534	ENST00000394631;ENST00000226796	.	.	.	3.24	3.24	0.37175	.	0.220412	0.35936	N	0.002896	T	0.16642	0.0400	N	0.08118	0	0.34872	D	0.743729	P;P	0.46327	0.876;0.804	B;B	0.27500	0.08;0.037	T	0.30357	-0.9981	9	0.33141	T	0.24	.	12.3185	0.54971	0.0:0.0:1.0:0.0	.	13;13	Q9NY12-2;Q9NY12	.;GAR1_HUMAN	P	13	.	ENSP00000226796:R13P	R	+	2	0	GAR1	110956807	0.996000	0.38824	0.974000	0.42286	0.968000	0.65278	2.493000	0.45320	1.788000	0.52465	0.655000	0.94253	CGA		0.577	GAR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363810.2				22	44	0	0	0	0.012319	0	22	44		
NAA15	80155	broad.mit.edu	37	4	140299923	140299923	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:140299923G>A	ENST00000296543.5	+	17	2393	c.2070G>A	c.(2068-2070)ttG>ttA	p.L690L	NAA15_ENST00000398947.1_Silent_p.L690L	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	690	Interaction with HYPK.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						AGTTTCTTTTGATGCTACAAT	0.338																																						uc003ihu.1		NaN																	0				ovary(1)|skin(1)	2						c.(2068-2070)TTG>TTA		NMDA receptor regulated 1							155.0	132.0	139.0					4																	140299923		1800	4075	5875	SO:0001819	synonymous_variant	80155				angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding	g.chr4:140299923G>A	AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"""N(alpha)-acetyltransferase subunits"""	30782	protein-coding gene	gene with protein product		608000	"""NMDA receptor regulated 1"""	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.2070G>A	4.37:g.140299923G>A							p.L690L	NM_057175	NP_476516	Q9BXJ9	NAA15_HUMAN			17	2326	+			690			TPR 8.		D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Silent	SNP	ENST00000296543.5	37	c.2070G>A	CCDS43270.1																																																																																				0.338	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2		NM_057175		13	30	0	0	0	0.013537	0	13	30		
PRMT9	90826	broad.mit.edu	37	4	148605049	148605049	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:148605049C>T	ENST00000322396.6	-	1	332	c.90G>A	c.(88-90)caG>caA	p.Q30Q	PRMT10_ENST00000541232.1_5'UTR	NM_138364.2	NP_612373.2	Q6P2P2	ANM9_HUMAN		30						cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						GCTCTGCGCTCTGCAAGGACC	0.692																																						uc003ilc.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(88-90)CAG>CAA		protein arginine methyltransferase 10							42.0	45.0	44.0					4																	148605049		2203	4300	6503	SO:0001819	synonymous_variant	90826					cytoplasm	binding|protein methyltransferase activity	g.chr4:148605049C>T																												ENST00000322396.6:c.90G>A	4.37:g.148605049C>T						PRMT10_uc003ild.2_5'UTR	p.Q30Q	NM_138364	NP_612373	Q6P2P2	ANM10_HUMAN			1	232	-			30			TPR 1.		A8KA39|B3KU92|Q6ZR58|Q8N383|Q9BT55|Q9NT98	Silent	SNP	ENST00000322396.6	37	c.90G>A	CCDS3771.1																																																																																				0.692	PRMT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364650.1				15	34	0	0	0	0.00245	0	15	34		
DCHS2	54798	broad.mit.edu	37	4	155305519	155305519	+	Splice_Site	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:155305519C>T	ENST00000357232.4	-	2	234		c.e2+1		DCHS2_ENST00000339452.1_Intron	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		actgacctcacctcagtttcc	0.502																																						uc003inw.2		NaN																	0				ovary(3)|pancreas(1)	4						c.e2+1		dachsous 2 isoform 1							238.0	174.0	196.0					4																	155305519		2203	4300	6503	SO:0001630	splice_region_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155305519C>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.234+1G>A	4.37:g.155305519C>T						DCHS2_uc003inx.2_Intron	p.E78_splice	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	2	234	-	all_hematologic(180;0.208)	Renal(120;0.0854)						B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Splice_Site	SNP	ENST00000357232.4	37	c.234_splice	CCDS3785.1																																																																																				0.502	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2		NM_001142552	Intron	11	32	0	0	0	0.00245	0	11	32		
FGB	2244	broad.mit.edu	37	4	155487699	155487699	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:155487699C>A	ENST00000302068.4	+	3	428	c.365C>A	c.(364-366)cCa>cAa	p.P122Q	FGB_ENST00000502545.1_3'UTR|FGB_ENST00000509493.1_Intron	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	122					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|cellular response to interleukin-1 (GO:0071347)|cellular response to leptin stimulus (GO:0044320)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	chaperone binding (GO:0051087)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CAGGAAAGGCCAATCAGAAAT	0.418																																					NSCLC(106;1133 1613 21870 46110 52656)	uc003ioa.3		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(364-366)CCA>CAA		fibrinogen, beta chain preproprotein	Sucralfate(DB00364)						155.0	145.0	148.0					4																	155487699		2203	4300	6503	SO:0001583	missense	2244				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155487699C>A		CCDS3786.1	4q28	2014-09-17			ENSG00000171564	ENSG00000171564		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3662	protein-coding gene	gene with protein product		134830	"""fibrinogen, B beta polypeptide"""				Standard	NM_005141		Approved		uc003ioa.4	P02675	OTTHUMG00000150331	ENST00000302068.4:c.365C>A	4.37:g.155487699C>A	ENSP00000306099:p.Pro122Gln					FGB_uc010ipu.1_RNA|FGB_uc003iob.3_Missense_Mutation_p.P119Q|FGB_uc010ipv.2_Missense_Mutation_p.P60Q|FGB_uc010ipw.2_Missense_Mutation_p.P119Q|FGB_uc003ioc.3_Intron	p.P122Q	NM_005141	NP_005132	P02675	FIBB_HUMAN			3	404	+	all_hematologic(180;0.215)	Renal(120;0.0458)	122					A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Missense_Mutation	SNP	ENST00000302068.4	37	c.365C>A	CCDS3786.1	.	.	.	.	.	.	.	.	.	.	C	4.806	0.149948	0.09185	.	.	ENSG00000171564	ENST00000302068;ENST00000537843	T	0.81247	-1.47	5.27	3.43	0.39272	Fibrinogen, alpha/beta/gamma chain, coiled coil domain (2);	0.822290	0.11084	N	0.601549	T	0.76948	0.4059	L	0.54323	1.7	0.09310	N	0.999998	P;P	0.44139	0.79;0.827	B;P	0.45377	0.302;0.478	T	0.62581	-0.6824	10	0.15952	T	0.53	.	8.5357	0.33362	0.1497:0.7672:0.0:0.0831	.	105;122	B4E1D3;P02675	.;FIBB_HUMAN	Q	122;105	ENSP00000306099:P122Q	ENSP00000306099:P122Q	P	+	2	0	FGB	155707149	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	0.438000	0.21559	1.350000	0.45770	0.650000	0.86243	CCA		0.418	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317595.1		NM_005141		15	34	1	0	0.000308642	0.003163	0.000319004	15	34		
FNIP2	57600	broad.mit.edu	37	4	159747136	159747136	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:159747136G>A	ENST00000264433.6	+	2	251	c.176G>A	c.(175-177)gGc>gAc	p.G59D	FNIP2_ENST00000379346.3_Missense_Mutation_p.G82D|FNIP2_ENST00000505445.1_3'UTR	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	59					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		GACAGGAGAGGCAGACAAGTC	0.413																																						uc003iqe.3		NaN																	0					0						c.(175-177)GGC>GAC		folliculin interacting protein 2							206.0	200.0	202.0					4																	159747136		1927	4127	6054	SO:0001583	missense	57600				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding	g.chr4:159747136G>A	AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"""O6-methylguanine-induced apoptosis 1"""	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.176G>A	4.37:g.159747136G>A	ENSP00000264433:p.Gly59Asp					FNIP2_uc003iqd.2_Missense_Mutation_p.G59D	p.G59D	NM_020840	NP_065891	Q9P278	FNIP2_HUMAN		COAD - Colon adenocarcinoma(41;0.00936)	2	359	+	all_hematologic(180;0.24)		59					Q05DC3|Q96I31|Q9H994	Missense_Mutation	SNP	ENST00000264433.6	37	c.176G>A	CCDS47155.1	.	.	.	.	.	.	.	.	.	.	G	32	5.112615	0.94339	.	.	ENSG00000052795	ENST00000264433;ENST00000512986;ENST00000379346	T;T;T	0.50548	0.74;0.74;0.74	5.66	5.66	0.87406	.	.	.	.	.	T	0.74673	0.3747	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77236	-0.2662	8	.	.	.	.	19.7417	0.96234	0.0:0.0:1.0:0.0	.	59;82	Q9P278;D6RFH5	FNIP2_HUMAN;.	D	59;82;82	ENSP00000264433:G59D;ENSP00000421488:G82D;ENSP00000368651:G82D	.	G	+	2	0	FNIP2	159966586	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.765000	0.91724	2.658000	0.90341	0.591000	0.81541	GGC		0.413	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366602.1		NM_020840		36	81	0	0	0	0.003755	0	36	81		
FSTL5	56884	broad.mit.edu	37	4	162697045	162697045	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:162697045A>C	ENST00000306100.5	-	5	1027	c.591T>G	c.(589-591)atT>atG	p.I197M	FSTL5_ENST00000427802.2_Missense_Mutation_p.I196M|FSTL5_ENST00000379164.4_Missense_Mutation_p.I196M|FSTL5_ENST00000536695.1_Missense_Mutation_p.I196M	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	197	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TTAGTTCATTAATATCTACAA	0.289																																						uc003iqh.2		NaN																	0				ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8						c.(589-591)ATT>ATG		follistatin-like 5 isoform a							79.0	83.0	81.0					4																	162697045		2203	4292	6495	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:162697045A>C	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.591T>G	4.37:g.162697045A>C	ENSP00000305334:p.Ile197Met					FSTL5_uc003iqi.2_Missense_Mutation_p.I196M|FSTL5_uc010iqv.2_Missense_Mutation_p.I196M	p.I197M	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	5	1027	-	all_hematologic(180;0.24)		197			1 (Potential).|EF-hand 1.		E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.591T>G	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	A	12.41	1.929271	0.34096	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	5.3	2.75	0.32379	EF-hand-like domain (1);	0.285125	0.38778	N	0.001577	T	0.15782	0.0380	L	0.35644	1.08	0.26999	N	0.964955	P;B;P	0.38642	0.641;0.1;0.511	B;B;B	0.34824	0.19;0.051;0.19	T	0.12167	-1.0558	10	0.46703	T	0.11	.	4.4777	0.11752	0.6425:0.0:0.2216:0.1359	.	196;196;197	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	M	197;196;196;196	ENSP00000305334:I197M;ENSP00000368462:I196M;ENSP00000389270:I196M;ENSP00000440409:I196M	ENSP00000305334:I197M	I	-	3	3	FSTL5	162916495	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	0.575000	0.23729	0.361000	0.24292	0.528000	0.53228	ATT		0.289	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2		NM_020116		4	27	0	0	0	0.000602	0	4	27		
NPY1R	4886	broad.mit.edu	37	4	164246583	164246583	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:164246583G>C	ENST00000296533.2	-	3	1558	c.1027C>G	c.(1027-1029)Cgg>Ggg	p.R343G	NPY1R_ENST00000509586.1_Missense_Mutation_p.R100G	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	343					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose metabolic process (GO:0006006)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|regulation of blood pressure (GO:0008217)|regulation of multicellular organism growth (GO:0040014)|sensory perception of pain (GO:0019233)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)	p.R343W(1)		breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TCATCATCCCGAGACCGGAAA	0.393																																						uc003iqm.1		NaN																	1	Substitution - Missense(1)		cervix(1)	lung(1)|pancreas(1)	2						c.(1027-1029)CGG>GGG		neuropeptide Y receptor Y1							138.0	145.0	142.0					4																	164246583		2203	4300	6503	SO:0001583	missense	4886				inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	g.chr4:164246583G>C		CCDS34089.1	4q31.3-q32	2012-08-08				ENSG00000164128		"""GPCR / Class A : Neuropeptide receptors : Y"""	7956	protein-coding gene	gene with protein product		162641		NPYR		8095935	Standard	NM_000909		Approved		uc003iqm.2	P25929		ENST00000296533.2:c.1027C>G	4.37:g.164246583G>C	ENSP00000354652:p.Arg343Gly					NPY1R_uc011cjj.1_Missense_Mutation_p.R100G	p.R343G	NM_000909	NP_000900	P25929	NPY1R_HUMAN			3	1293	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	343			Cytoplasmic (Potential).		B2R6H5	Missense_Mutation	SNP	ENST00000296533.2	37	c.1027C>G	CCDS34089.1	.	.	.	.	.	.	.	.	.	.	G	8.276	0.814550	0.16607	.	.	ENSG00000164128	ENST00000296533;ENST00000509586	T;T	0.37915	1.17;1.17	5.48	5.48	0.80851	.	0.258733	0.30859	N	0.008736	T	0.24044	0.0582	N	0.25890	0.77	0.44816	D	0.997823	P	0.45715	0.865	B	0.37480	0.251	T	0.02751	-1.1115	10	0.27785	T	0.31	.	12.9417	0.58348	0.0:0.0:0.7166:0.2834	.	343	P25929	NPY1R_HUMAN	G	343;100	ENSP00000354652:R343G;ENSP00000427284:R100G	ENSP00000354652:R343G	R	-	1	2	NPY1R	164466033	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.430000	0.44766	2.565000	0.86533	0.655000	0.94253	CGG		0.393	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364685.1				20	54	0	0	0	0.007413	0	20	54		
TRIM60	166655	broad.mit.edu	37	4	165961621	165961621	+	Missense_Mutation	SNP	A	A	G	rs377134665		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:165961621A>G	ENST00000512596.1	+	3	613	c.397A>G	c.(397-399)Att>Gtt	p.I133V	TRIM60_ENST00000341062.5_Missense_Mutation_p.I133V|TRIM60_ENST00000508504.1_Missense_Mutation_p.I133V	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	133						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		CATTTGCCCTATTAAGAAAGC	0.398																																						uc003iqy.1		NaN																	0				skin(1)	1						c.(397-399)ATT>GTT		ring finger protein 129		A	VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	73.0	73.0	73.0		397	-1.4	0.0	4		73	0,8600		0,0,4300	no	missense	TRIM60	NM_152620.2	29	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	benign	133/472	165961621	1,13005	2203	4300	6503	SO:0001583	missense	166655					intracellular	zinc ion binding	g.chr4:165961621A>G	AK093201	CCDS3808.1	4q32.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000176979	ENSG00000176979		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21162	protein-coding gene	gene with protein product			"""ring finger protein 129"", ""tripartite motif-containing 60"""	RNF129, RNF33			Standard	NM_152620		Approved	FLJ35882	uc003iqy.1	Q495X7	OTTHUMG00000161262	ENST00000512596.1:c.397A>G	4.37:g.165961621A>G	ENSP00000421142:p.Ile133Val					TRIM60_uc010iqx.1_Missense_Mutation_p.I133V	p.I133V	NM_152620	NP_689833	Q495X7	TRI60_HUMAN		GBM - Glioblastoma multiforme(119;0.0844)	3	567	+	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)	133			B box-type.		Q8NA35	Missense_Mutation	SNP	ENST00000512596.1	37	c.397A>G	CCDS3808.1	.	.	.	.	.	.	.	.	.	.	A	0.825	-0.747257	0.03065	2.27E-4	0.0	ENSG00000176979	ENST00000512596;ENST00000508504;ENST00000341062	T;T;T	0.44482	0.92;0.92;0.92	2.49	-1.41	0.08941	Zinc finger, B-box (3);	0.628017	0.12435	N	0.469210	T	0.30479	0.0766	L	0.45285	1.41	0.09310	N	1	B	0.06786	0.001	B	0.16289	0.015	T	0.19943	-1.0290	10	0.30854	T	0.27	.	8.1688	0.31243	0.6663:0.0:0.3337:0.0	.	133	Q495X7	TRI60_HUMAN	V	133	ENSP00000421142:I133V;ENSP00000426496:I133V;ENSP00000343765:I133V	ENSP00000343765:I133V	I	+	1	0	TRIM60	166181071	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.708000	0.01891	-0.738000	0.04817	-1.139000	0.01908	ATT		0.398	TRIM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364325.1		NM_152620		11	26	0	0	0	0.010729	0	11	26		
SPOCK3	50859	broad.mit.edu	37	4	167921549	167921549	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:167921549G>A	ENST00000357154.3	-	5	447	c.310C>T	c.(310-312)Caa>Taa	p.Q104*	SPOCK3_ENST00000512681.1_Intron|SPOCK3_ENST00000504953.1_Nonsense_Mutation_p.Q101*|SPOCK3_ENST00000502330.1_Nonsense_Mutation_p.Q104*|SPOCK3_ENST00000421836.2_Nonsense_Mutation_p.Q53*|SPOCK3_ENST00000357545.4_Nonsense_Mutation_p.Q101*|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000541637.1_Intron|SPOCK3_ENST00000506886.1_Nonsense_Mutation_p.Q104*|SPOCK3_ENST00000535728.1_Nonsense_Mutation_p.Q12*|SPOCK3_ENST00000511269.1_Nonsense_Mutation_p.Q101*|SPOCK3_ENST00000512648.1_Nonsense_Mutation_p.Q101*|SPOCK3_ENST00000541354.1_Intron|SPOCK3_ENST00000534949.1_Intron|SPOCK3_ENST00000510741.1_Nonsense_Mutation_p.Q101*|SPOCK3_ENST00000511531.1_Nonsense_Mutation_p.Q104*	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	104					negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		TGAGAATCTTGAGCAATGCAT	0.378																																						uc003iri.1		NaN																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(310-312)CAA>TAA		testican 3 isoform 2							140.0	133.0	136.0					4																	167921549		2203	4300	6503	SO:0001587	stop_gained	50859				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	g.chr4:167921549G>A	AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.310C>T	4.37:g.167921549G>A	ENSP00000349677:p.Gln104*					SPOCK3_uc011cjp.1_Nonsense_Mutation_p.Q101*|SPOCK3_uc011cjq.1_Nonsense_Mutation_p.Q113*|SPOCK3_uc011cjr.1_Intron|SPOCK3_uc003irj.1_Nonsense_Mutation_p.Q101*|SPOCK3_uc011cjs.1_Nonsense_Mutation_p.Q53*|SPOCK3_uc011cjt.1_Nonsense_Mutation_p.Q12*|SPOCK3_uc011cju.1_Intron|SPOCK3_uc011cjv.1_Intron|SPOCK3_uc003irk.3_Nonsense_Mutation_p.Q101*|SPOCK3_uc011cjw.1_RNA	p.Q104*	NM_016950	NP_058646	Q9BQ16	TICN3_HUMAN		GBM - Glioblastoma multiforme(119;0.02)	5	451	-	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)	104					B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Nonsense_Mutation	SNP	ENST00000357154.3	37	c.310C>T	CCDS54817.1	.	.	.	.	.	.	.	.	.	.	G	10.07	1.250383	0.22880	.	.	ENSG00000196104	ENST00000357154;ENST00000357545;ENST00000504953;ENST00000506886;ENST00000511531;ENST00000502330;ENST00000510741;ENST00000511269;ENST00000535728;ENST00000421836;ENST00000512648;ENST00000509854;ENST00000506697;ENST00000512042	.	.	.	5.44	4.6	0.57074	.	0.130113	0.51477	D	0.000084	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-9.8504	14.3999	0.67037	0.0715:0.0:0.9285:0.0	.	.	.	.	X	104;101;101;104;104;104;101;101;12;53;101;101;104;104	.	ENSP00000349677:Q104X	Q	-	1	0	SPOCK3	168158124	1.000000	0.71417	0.714000	0.30535	0.018000	0.09664	4.499000	0.60380	1.438000	0.47492	-0.225000	0.12378	CAA		0.378	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364091.1				19	33	0	0	0	0.010504	0	19	33		
DDX60L	91351	broad.mit.edu	37	4	169296610	169296610	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:169296610C>T	ENST00000511577.1	-	34	4798	c.4551G>A	c.(4549-4551)atG>atA	p.M1517I	DDX60L_ENST00000260184.7_Missense_Mutation_p.M1517I			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1517							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CAAAATCCTTCATTACTGCCA	0.408																																						uc003irq.3		NaN																	0				ovary(1)	1						c.(4549-4551)ATG>ATA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							74.0	69.0	71.0					4																	169296610		1853	4093	5946	SO:0001583	missense	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169296610C>T	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.4551G>A	4.37:g.169296610C>T	ENSP00000422423:p.Met1517Ile						p.M1517I	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	34	4772	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	1517					Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	37	c.4551G>A		.	.	.	.	.	.	.	.	.	.	C	5.166	0.216198	0.09810	.	.	ENSG00000181381	ENST00000260184;ENST00000511577	T;T	0.16196	2.36;2.36	3.36	-6.29	0.02013	.	.	.	.	.	T	0.09468	0.0233	L	0.29908	0.895	0.09310	N	1	B	0.13594	0.008	B	0.09377	0.004	T	0.32214	-0.9915	9	0.31617	T	0.26	.	6.6002	0.22697	0.1195:0.259:0.0:0.6215	.	1517	Q5H9U9	DDX6L_HUMAN	I	1517	ENSP00000260184:M1517I;ENSP00000422423:M1517I	ENSP00000260184:M1517I	M	-	3	0	DDX60L	169533185	0.000000	0.05858	0.000000	0.03702	0.455000	0.32408	-0.198000	0.09505	-1.436000	0.01970	0.467000	0.42956	ATG		0.408	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1		NM_001012967		4	14	0	0	0	0.000602	0	4	14		
TENM3	55714	broad.mit.edu	37	4	183267957	183267957	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:183267957A>G	ENST00000511685.1	+	3	509	c.386A>G	c.(385-387)gAg>gGg	p.E129G	TENM3_ENST00000406950.2_Missense_Mutation_p.E129G			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	129	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										ATGTCCCCAGAGCATGCCATG	0.557																																						uc003ivd.1		NaN																	0					0						c.(385-387)GAG>GGG		odz, odd Oz/ten-m homolog 3							52.0	55.0	54.0					4																	183267957		2010	4170	6180	SO:0001583	missense	55714				signal transduction	integral to membrane		g.chr4:183267957A>G	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.386A>G	4.37:g.183267957A>G	ENSP00000424226:p.Glu129Gly					ODZ3_uc010irv.1_Missense_Mutation_p.E129G	p.E129G	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	2	423	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	129			Cytoplasmic (Potential).|Teneurin N-terminal.		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.386A>G	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	A	18.03	3.532403	0.64972	.	.	ENSG00000218336	ENST00000512480;ENST00000511685;ENST00000406950	T;T;T	0.42900	0.96;0.96;0.96	4.88	4.88	0.63580	Teneurin intracellular, N-terminal (2);	.	.	.	.	T	0.62282	0.2415	M	0.67953	2.075	0.45318	D	0.99831	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.992	T	0.64918	-0.6294	9	0.54805	T	0.06	.	14.6602	0.68865	1.0:0.0:0.0:0.0	.	129;129	D6RGC5;Q9P273	.;TEN3_HUMAN	G	129	ENSP00000421320:E129G;ENSP00000424226:E129G;ENSP00000385276:E129G	ENSP00000385276:E129G	E	+	2	0	ODZ3	183504951	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.139000	0.94554	2.047000	0.60756	0.460000	0.39030	GAG		0.557	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1				7	6	0	0	0	0.001984	0	7	6		
FAT1	2195	broad.mit.edu	37	4	187628629	187628629	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:187628629T>C	ENST00000441802.2	-	2	2562	c.2353A>G	c.(2353-2355)Aca>Gca	p.T785A		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	785	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TATTTGTCTGTTGTTTCACGG	0.433										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NaN																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(2353-2355)ACA>GCA		FAT tumor suppressor 1 precursor							152.0	153.0	152.0					4																	187628629		1966	4149	6115	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187628629T>C	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.2353A>G	4.37:g.187628629T>C	ENSP00000406229:p.Thr785Ala	HNSCC(5;0.00058)				FAT1_uc010iso.1_Missense_Mutation_p.T785A	p.T785A	NM_005245	NP_005236	Q14517	FAT1_HUMAN			2	2541	-			785			Extracellular (Potential).|Cadherin 6.			Missense_Mutation	SNP	ENST00000441802.2	37	c.2353A>G	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	T	5.506	0.278304	0.10403	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.52295	0.67	4.94	2.49	0.30216	Cadherin (4);Cadherin-like (1);	0.478597	0.23487	N	0.047644	T	0.34135	0.0887	L	0.43757	1.38	0.09310	N	1	B	0.12630	0.006	B	0.16722	0.016	T	0.25328	-1.0135	10	0.10111	T	0.7	.	9.4043	0.38451	0.0:0.146:0.0:0.854	.	785	Q14517	FAT1_HUMAN	A	785	ENSP00000406229:T785A	ENSP00000260147:T785A	T	-	1	0	FAT1	187865623	0.101000	0.21875	0.002000	0.10522	0.023000	0.10783	2.316000	0.43761	0.369000	0.24510	-0.346000	0.07831	ACA		0.433	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3		NM_005245		26	85	0	0	0	0.004656	0	26	85		
ICE1	23379	broad.mit.edu	37	5	5460633	5460633	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:5460633G>A	ENST00000296564.7	+	13	1408	c.1186G>A	c.(1186-1188)Gat>Aat	p.D396N		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		396					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TTCAGAAGATGATACAACTGA	0.373																																						uc003jdm.3		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1186-1188)GAT>AAT		hypothetical protein LOC23379							37.0	36.0	36.0					5																	5460633		1831	4093	5924	SO:0001583	missense	23379							g.chr5:5460633G>A																												ENST00000296564.7:c.1186G>A	5.37:g.5460633G>A	ENSP00000296564:p.Asp396Asn						p.D396N	NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN			13	1408	+			396					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	c.1186G>A	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	g	11.01	1.514047	0.27123	.	.	ENSG00000164151	ENST00000296564	T	0.45276	0.9	4.68	0.652	0.17823	.	1.200590	0.05874	U	0.625137	T	0.19967	0.0480	N	0.08118	0	0.09310	N	1	B	0.19583	0.037	B	0.23275	0.045	T	0.24905	-1.0147	10	0.13108	T	0.6	-5.265	3.3516	0.07154	0.2944:0.0:0.509:0.1966	.	396	Q9Y2F5	K0947_HUMAN	N	396	ENSP00000296564:D396N	ENSP00000296564:D396N	D	+	1	0	KIAA0947	5513633	0.545000	0.26449	0.056000	0.19401	0.523000	0.34469	0.604000	0.24164	0.360000	0.24265	0.298000	0.19748	GAT		0.373	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1				4	6	0	0	0	0.009096	0	4	6		
RICTOR	253260	broad.mit.edu	37	5	38963033	38963033	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:38963033G>C	ENST00000357387.3	-	17	1541	c.1511C>G	c.(1510-1512)aCa>aGa	p.T504R	RICTOR_ENST00000296782.5_Missense_Mutation_p.T504R	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TTTCTGGTGTGTTGCAATTGC	0.368																																						uc003jlp.2		NaN																	0				ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10						c.(1510-1512)ACA>AGA		rapamycin-insensitive companion of mTOR							173.0	159.0	164.0					5																	38963033		2203	4300	6503	SO:0001583	missense	253260				actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	g.chr5:38963033G>C		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.1511C>G	5.37:g.38963033G>C	ENSP00000349959:p.Thr504Arg					RICTOR_uc003jlo.2_Missense_Mutation_p.T504R|RICTOR_uc010ivf.2_Missense_Mutation_p.T219R	p.T504R	NM_152756	NP_689969	Q6R327	RICTR_HUMAN			17	1535	-	all_lung(31;0.000396)		504						Missense_Mutation	SNP	ENST00000357387.3	37	c.1511C>G	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.654362	0.67472	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.45276	0.9;0.9	5.76	5.76	0.90799	Armadillo-type fold (1);	0.145643	0.64402	D	0.000006	T	0.45458	0.1343	L	0.41824	1.3	0.58432	D	0.999995	B;P	0.47677	0.019;0.899	B;P	0.45681	0.014;0.49	T	0.42849	-0.9427	10	0.87932	D	0	-17.3335	20.3431	0.98773	0.0:0.0:1.0:0.0	.	504;504	Q6R327;Q6R327-3	RICTR_HUMAN;.	R	504	ENSP00000349959:T504R;ENSP00000296782:T504R	ENSP00000296782:T504R	T	-	2	0	RICTOR	38998790	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.378000	0.97191	2.880000	0.98712	0.650000	0.86243	ACA		0.368	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1		NM_152756		21	33	0	0	0	0.014323	0	21	33		
SLC38A9	153129	broad.mit.edu	37	5	54922436	54922436	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:54922436G>A	ENST00000396865.2	-	16	2163	c.1572C>T	c.(1570-1572)ctC>ctT	p.L524L	SLC38A9_ENST00000416547.2_Silent_p.L400L|SLC38A9_ENST00000539768.1_3'UTR|SLC38A9_ENST00000318672.3_Silent_p.L524L|SLC38A9_ENST00000512595.1_Silent_p.L461L|SLC38A9_ENST00000515629.1_Silent_p.L461L	NM_173514.3	NP_775785.2	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	524					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				TTATATAGATGAGAGATGGGT	0.398																																						uc003jqf.2		NaN																	0					0						c.(1570-1572)CTC>CTT		solute carrier family 38, member 9							148.0	151.0	150.0					5																	54922436		2203	4300	6503	SO:0001819	synonymous_variant	153129				amino acid transport|sodium ion transport	integral to membrane		g.chr5:54922436G>A		CCDS3968.1, CCDS58947.1, CCDS58948.1, CCDS75243.1	5q11.2	2013-05-22			ENSG00000177058	ENSG00000177058		"""Solute carriers"""	26907	protein-coding gene	gene with protein product							Standard	NM_173514		Approved	FLJ90709	uc003jqf.3	Q8NBW4	OTTHUMG00000131189	ENST00000396865.2:c.1572C>T	5.37:g.54922436G>A						SLC38A9_uc003jqd.2_Silent_p.L461L|SLC38A9_uc010ivx.2_Silent_p.L461L|SLC38A9_uc003jqe.2_RNA|SLC38A9_uc010ivy.2_Silent_p.L395L	p.L524L	NM_173514	NP_775785	Q8NBW4	S38A9_HUMAN			16	1773	-		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)	524			Helical; (Potential).		B3KXV1|B7Z7D0|Q0P5S0|Q6MZJ8	Silent	SNP	ENST00000396865.2	37	c.1572C>T	CCDS3968.1																																																																																				0.398	SLC38A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253912.2		NM_173514		32	58	0	0	0	0.004289	0	32	58		
F2R	2149	broad.mit.edu	37	5	76028967	76028967	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:76028967G>T	ENST00000319211.4	+	2	1182	c.917G>T	c.(916-918)aGc>aTc	p.S306I		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	306					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPKK activity (GO:0000186)|anatomical structure morphogenesis (GO:0009653)|blood coagulation (GO:0007596)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|G-protein coupled receptor signaling pathway (GO:0007186)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of renin secretion into blood stream (GO:1900134)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of blood coagulation (GO:0030194)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood coagulation (GO:0030193)|regulation of interleukin-1 beta production (GO:0032651)|regulation of sensory perception of pain (GO:0051930)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|STAT protein import into nucleus (GO:0007262)|tyrosine phosphorylation of STAT protein (GO:0007260)	caveola (GO:0005901)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|platelet dense tubular network (GO:0031094)|postsynaptic membrane (GO:0045211)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	GCCAACCGCAGCAAGAAGTCC	0.488																																						uc003ken.3		NaN																	0				ovary(3)	3						c.(916-918)AGC>ATC		coagulation factor II receptor precursor	Streptokinase(DB00086)						135.0	128.0	131.0					5																	76028967		2203	4300	6503	SO:0001583	missense	2149				activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity	g.chr5:76028967G>T	M62424	CCDS4032.1	5q13	2012-08-08			ENSG00000181104	ENSG00000181104		"""GPCR / Class A : Protease activated receptors"""	3537	protein-coding gene	gene with protein product		187930				8395910	Standard	NM_001992		Approved	TR, CF2R, PAR1, PAR-1	uc003ken.4	P25116	OTTHUMG00000131299	ENST00000319211.4:c.917G>T	5.37:g.76028967G>T	ENSP00000321326:p.Ser306Ile						p.S306I	NM_001992	NP_001983	P25116	PAR1_HUMAN		all cancers(79;4.43e-43)	2	1182	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)	306			Cytoplasmic (Potential).		Q53XV0|Q96RF7|Q9BUN4	Missense_Mutation	SNP	ENST00000319211.4	37	c.917G>T	CCDS4032.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.243349	0.58995	.	.	ENSG00000181104	ENST00000319211	T	0.38887	1.11	4.92	-0.36	0.12568	GPCR, rhodopsin-like superfamily (1);	0.555420	0.21283	N	0.077108	T	0.42108	0.1188	L	0.41415	1.275	0.39650	D	0.970456	D	0.55800	0.973	P	0.57846	0.828	T	0.32268	-0.9913	10	0.51188	T	0.08	-14.2579	5.7186	0.17974	0.3107:0.2376:0.4516:0.0	.	306	P25116	PAR1_HUMAN	I	306	ENSP00000321326:S306I	ENSP00000321326:S306I	S	+	2	0	F2R	76064723	0.902000	0.30710	0.376000	0.26042	0.974000	0.67602	0.574000	0.23714	-0.178000	0.10672	0.561000	0.74099	AGC		0.488	F2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254068.2				28	31	1	0	1.17739e-12	0.005443	1.26233e-12	28	31		
ARSK	153642	broad.mit.edu	37	5	94891054	94891054	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:94891054G>A	ENST00000380009.4	+	1	277	c.72G>A	c.(70-72)caG>caA	p.Q24Q	ARSK_ENST00000504763.1_Silent_p.Q24Q|TTC37_ENST00000358746.2_5'Flank	NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	24					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		CAGGGGAGCAGAGGCGGAGAG	0.697																																						uc003kld.2		NaN																	0				pancreas(1)	1						c.(70-72)CAG>CAA		arylsulfatase K precursor							24.0	25.0	25.0					5																	94891054		2202	4298	6500	SO:0001819	synonymous_variant	153642					extracellular region	arylsulfatase activity|metal ion binding	g.chr5:94891054G>A		CCDS4073.1	5q15	2013-02-14	2006-03-07		ENSG00000164291	ENSG00000164291		"""Arylsulfatase family"""	25239	protein-coding gene	gene with protein product		610011	"""arylsulfatase K"""			12975309, 16174644	Standard	NM_198150		Approved	DKFZp313G1735, TSULF	uc003kld.3	Q6UWY0	OTTHUMG00000121166	ENST00000380009.4:c.72G>A	5.37:g.94891054G>A						ARSK_uc010jbg.2_5'UTR|ARSK_uc011cum.1_RNA|TTC37_uc003klb.2_5'Flank|TTC37_uc010jbf.1_5'Flank|ARSK_uc003klc.2_RNA	p.Q24Q	NM_198150	NP_937793	Q6UWY0	ARSK_HUMAN		all cancers(79;6.5e-16)	1	230	+		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)	24					A2BDE3|B4E1I4|Q3ZCW3|Q8N3Q8	Silent	SNP	ENST00000380009.4	37	c.72G>A	CCDS4073.1																																																																																				0.697	ARSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241652.2		NM_198150		6	20	0	0	0	0.001168	0	6	20		
CHD1	1105	broad.mit.edu	37	5	98195774	98195774	+	Splice_Site	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:98195774T>C	ENST00000284049.3	-	32	4577		c.e32-2			NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1						chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	CACAGGTTTCTAGAAGAATTT	0.313																																						uc003knf.2		NaN																	0				lung(2)|ovary(1)|breast(1)|pancreas(1)	5						c.e32-1		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)						26.0	29.0	28.0					5																	98195774		2182	4266	6448	SO:0001630	splice_region_variant	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98195774T>C	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.4428-2A>G	5.37:g.98195774T>C						CHD1_uc010jbn.2_Splice_Site_p.K202_splice	p.K1476_splice	NM_001270	NP_001261	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	32	4576	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)						Q17RZ3	Splice_Site	SNP	ENST00000284049.3	37	c.4428_splice	CCDS34204.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.77|17.77	3.471885|3.471885	0.63737|0.63737	.|.	.|.	ENSG00000153922|ENSG00000153922	ENST00000284049|ENST00000422663	.|.	.|.	.|.	5.09|5.09	5.09|5.09	0.68999|0.68999	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71074	.|0.3297	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70695	.|-0.4801	.|4	.|.	.|.	.|.	.|.	15.1564|15.1564	0.72746|0.72746	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	.|G	-1|66	.|.	.|.	.|R	-|-	.|1	.|2	CHD1|CHD1	98223674|98223674	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.864000|0.864000	0.49448|0.49448	7.671000|7.671000	0.83941|0.83941	2.036000|2.036000	0.60181|0.60181	0.533000|0.533000	0.62120|0.62120	.|AGA		0.313	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1		NM_001270	Intron	7	31	0	0	0	0.001984	0	7	31		
SLC25A46	91137	broad.mit.edu	37	5	110091194	110091194	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:110091194A>G	ENST00000355943.3	+	6	719	c.593A>G	c.(592-594)cAa>cGa	p.Q198R	SLC25A46_ENST00000504098.1_Missense_Mutation_p.Q52R|SLC25A46_ENST00000447245.2_Missense_Mutation_p.Q198R|SLC25A46_ENST00000509432.1_5'UTR|SLC25A46_ENST00000513807.1_Missense_Mutation_p.Q36R|SLC25A46_ENST00000509442.2_Missense_Mutation_p.Q107R|SLC25A46_ENST00000513706.1_3'UTR	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	198					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		AGTCCTAAACAAATAGGAGAA	0.279																																						uc003koz.2		NaN																	0					0						c.(592-594)CAA>CGA		solute carrier family 25, member 46							57.0	66.0	63.0					5																	110091194		2202	4291	6493	SO:0001583	missense	91137				transport	integral to membrane|mitochondrial inner membrane		g.chr5:110091194A>G	BC017169	CCDS4100.1	5q22.1	2013-05-22			ENSG00000164209	ENSG00000164209		"""Solute carriers"""	25198	protein-coding gene	gene with protein product		610826				1651562, 1651563, 16949250	Standard	NM_138773		Approved		uc003koz.3	Q96AG3	OTTHUMG00000128794	ENST00000355943.3:c.593A>G	5.37:g.110091194A>G	ENSP00000348211:p.Gln198Arg					SLC25A46_uc011cvi.1_Missense_Mutation_p.Q107R	p.Q198R	NM_138773	NP_620128	Q96AG3	S2546_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)	6	660	+		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)	198					A8K2F2|B3KRE6|B4DTA3|D3DSZ6|D6R9W7|Q04197	Missense_Mutation	SNP	ENST00000355943.3	37	c.593A>G	CCDS4100.1	.	.	.	.	.	.	.	.	.	.	A	12.92	2.082277	0.36758	.	.	ENSG00000164209	ENST00000513807;ENST00000509442;ENST00000355943;ENST00000514046;ENST00000447245;ENST00000504098	D;T;T;T;T	0.82803	-1.65;-1.12;-1.12;-1.12;-1.12	5.62	3.27	0.37495	Mitochondrial carrier domain (2);	0.153370	0.64402	N	0.000013	T	0.72382	0.3453	L	0.41573	1.285	0.48901	D	0.999725	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.62421	-0.6858	10	0.15952	T	0.53	-6.5301	9.4884	0.38944	0.8574:0.0:0.1426:0.0	.	107;198	B4DY98;Q96AG3	.;S2546_HUMAN	R	36;107;198;52;198;52	ENSP00000421134:Q36R;ENSP00000424136:Q107R;ENSP00000348211:Q198R;ENSP00000399717:Q198R;ENSP00000425708:Q52R	ENSP00000348211:Q198R	Q	+	2	0	SLC25A46	110119093	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.468000	0.53086	0.963000	0.38082	0.533000	0.62120	CAA		0.279	SLC25A46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250721.5		NM_138773		16	39	0	0	0	0.012319	0	16	39		
APC	324	broad.mit.edu	37	5	112154981	112154981	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:112154981G>T	ENST00000457016.1	+	10	1632	c.1252G>T	c.(1252-1254)Gaa>Taa	p.E418*	APC_ENST00000508376.2_Nonsense_Mutation_p.E418*|APC_ENST00000257430.4_Nonsense_Mutation_p.E418*			P25054	APC_HUMAN	adenomatous polyposis coli	418	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CGCTTACTGTGAAACCTGTTG	0.468		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	uc010jby.2		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	D|Mis|N|F|S	adenomatous polyposis of the colon gene			"""E, M, O"""		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS		0				large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515						c.(1252-1254)GAA>TAA		adenomatous polyposis coli							58.0	57.0	57.0					5																	112154981		2202	4300	6502	SO:0001587	stop_gained	324	Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112154981G>T	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.1252G>T	5.37:g.112154981G>T	ENSP00000413133:p.Glu418*	TSP Lung(16;0.13)				APC_uc011cvt.1_Nonsense_Mutation_p.E400*|APC_uc003kpz.3_Nonsense_Mutation_p.E418*|APC_uc003kpy.3_Nonsense_Mutation_p.E418*|APC_uc010jbz.2_Nonsense_Mutation_p.E135*|APC_uc010jca.2_5'Flank	p.E418*	NM_001127511	NP_001120983	P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	10	1632	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	418			Leu-rich.		D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	c.1252G>T	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	39	7.530943	0.98342	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.94	5.94	0.96194	.	0.096875	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-10.0533	20.419	0.99029	0.0:0.0:1.0:0.0	.	.	.	.	X	418;400;418;418;418	.	ENSP00000257430:E418X	E	+	1	0	APC	112182880	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.863000	0.87023	2.832000	0.97577	0.650000	0.86243	GAA		0.468	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2		NM_000038		36	30	1	0	7.53189e-24	0.007835	8.1564e-24	36	30		
CAMLG	819	broad.mit.edu	37	5	134074448	134074448	+	Silent	SNP	G	G	A	rs146867024	byFrequency	TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:134074448G>A	ENST00000297156.2	+	1	258	c.138G>A	c.(136-138)cgG>cgA	p.R46R	CAMLG_ENST00000514518.1_Silent_p.R46R	NM_001745.3	NP_001736.1	P49069	CAMLG_HUMAN	calcium modulating ligand	46					defense response (GO:0006952)|epidermal growth factor receptor signaling pathway (GO:0007173)|receptor recycling (GO:0001881)|signal transduction (GO:0007165)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|cervix(1)|kidney(3)|lung(3)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Cyclosporine(DB00091)	GCATCAACCGGATCATGGGCT	0.637																																						uc003kzt.2		NaN																	0					0						c.(136-138)CGG>CGA		calcium modulating ligand	Cyclosporine(DB00091)						39.0	40.0	40.0					5																	134074448		2203	4300	6503	SO:0001819	synonymous_variant	819				defense response	endoplasmic reticulum|integral to membrane		g.chr5:134074448G>A	AF068179.1	CCDS4178.1	5q23	2008-07-18			ENSG00000164615	ENSG00000164615			1471	protein-coding gene	gene with protein product	"""calcium-modulating cyclophilin ligand"", ""calcium-signal modulating cyclophilin ligand"", ""cyclophilin B-binding protein"""	601118				8824814	Standard	NM_001745		Approved	CAML	uc003kzt.3	P49069	OTTHUMG00000129116	ENST00000297156.2:c.138G>A	5.37:g.134074448G>A						CAMLG_uc003kzu.2_Silent_p.R46R	p.R46R	NM_001745	NP_001736	P49069	CAMLG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		1	243	+			46			Cytoplasmic (Potential).		A1L3Y3	Silent	SNP	ENST00000297156.2	37	c.138G>A	CCDS4178.1																																																																																				0.637	CAMLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251161.1		NM_001745		5	44	0	0	0	0.000602	0	5	44		
CXCL14	9547	broad.mit.edu	37	5	134914132	134914132	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:134914132C>A	ENST00000337225.5	-	2	662	c.198G>T	c.(196-198)aaG>aaT	p.K66N	CTC-321K16.1_ENST00000509372.1_RNA|CXCL14_ENST00000512158.1_Missense_Mutation_p.K54N|CTC-321K16.1_ENST00000514446.1_RNA	NM_004887.4	NP_004878.2	O95715	CXL14_HUMAN	chemokine (C-X-C motif) ligand 14	66					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inner ear development (GO:0048839)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)	chemokine activity (GO:0008009)			large_intestine(2)|lung(2)|prostate(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACATAACCATCTTCTCCTCGC	0.572																																						uc003lay.2		NaN																	0					0						c.(196-198)AAG>AAT		small inducible cytokine B14 precursor							158.0	146.0	150.0					5																	134914132		2203	4300	6503	SO:0001583	missense	9547				cell-cell signaling|chemotaxis|immune response|signal transduction	extracellular space|Golgi apparatus	chemokine activity	g.chr5:134914132C>A	AF073957	CCDS4188.1	5q31	2010-04-30	2002-08-22	2002-08-23	ENSG00000145824	ENSG00000145824			10640	protein-coding gene	gene with protein product	"""breast and kidney"""	604186	"""small inducible cytokine subfamily B (Cys-X-Cys), member 14 (BRAK)"""	SCYB14		10049774	Standard	NM_004887		Approved	BRAK, NJAC, bolekine, Kec, MIP-2g, BMAC, KS1	uc003lay.3	O95715	OTTHUMG00000129139	ENST00000337225.5:c.198G>T	5.37:g.134914132C>A	ENSP00000337065:p.Lys66Asn						p.K66N	NM_004887	NP_004878	O95715	CXL14_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	663	-			66					B3KQU8|Q6UW97|Q86U69|Q9BTR1|Q9NS21	Missense_Mutation	SNP	ENST00000337225.5	37	c.198G>T	CCDS4188.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.087156	0.76642	.	.	ENSG00000145824	ENST00000337225;ENST00000512158	T;T	0.05199	3.48;3.48	5.12	4.25	0.50352	Chemokine interleukin-8-like domain (2);	0.144440	0.64402	D	0.000009	T	0.12433	0.0302	L	0.38531	1.155	0.43426	D	0.995581	D	0.56287	0.975	P	0.59761	0.863	T	0.01587	-1.1318	10	0.72032	D	0.01	-0.854	9.5058	0.39046	0.0:0.836:0.0:0.164	.	66	O95715	CXL14_HUMAN	N	66;54	ENSP00000337065:K66N;ENSP00000423783:K54N	ENSP00000337065:K66N	K	-	3	2	CXCL14	134942031	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.777000	0.38604	1.154000	0.42482	0.591000	0.81541	AAG		0.572	CXCL14-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_004887		29	66	1	0	8.58068e-18	0.007291	9.26886e-18	29	66		
APBB3	10307	broad.mit.edu	37	5	139938224	139938224	+	Silent	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:139938224G>C	ENST00000357560.4	-	13	1850	c.1407C>G	c.(1405-1407)gtC>gtG	p.V469V	APBB3_ENST00000354402.5_Silent_p.V476V|SRA1_ENST00000336283.6_5'Flank|SRA1_ENST00000520427.1_5'Flank|APBB3_ENST00000358580.5_3'UTR|APBB3_ENST00000412920.3_Silent_p.V467V|APBB3_ENST00000508496.2_Silent_p.V246V|APBB3_ENST00000356738.2_Silent_p.V474V	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	469						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAAAGAGAAGACACCCCGCT	0.597																																						uc003lgd.1		NaN																	0				ovary(2)	2						c.(1420-1422)GTC>GTG		amyloid beta precursor protein-binding, family							90.0	97.0	95.0					5																	139938224		2203	4300	6503	SO:0001819	synonymous_variant	10307					actin cytoskeleton|cytoplasm		g.chr5:139938224G>C	AB018247	CCDS4227.1, CCDS4228.1, CCDS4229.1, CCDS47279.1	5q31	2008-02-05			ENSG00000113108	ENSG00000113108			20708	protein-coding gene	gene with protein product		602711				9407065	Standard	NM_133172		Approved	FE65L2	uc003lgd.1	O95704	OTTHUMG00000129504	ENST00000357560.4:c.1407C>G	5.37:g.139938224G>C						SRA1_uc003lfz.2_5'Flank|SRA1_uc010jfm.2_5'Flank|SRA1_uc003lga.2_5'Flank|APBB3_uc003lgb.1_Silent_p.V246V|APBB3_uc003lgc.1_Silent_p.V246V|APBB3_uc003lge.1_Silent_p.V467V|APBB3_uc003lgf.1_RNA|APBB3_uc010jfp.1_RNA|APBB3_uc011czi.1_Silent_p.V246V	p.V474V	NM_133172	NP_573418	O95704	APBB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		12	1781	-			469					B3KQN9|Q08AG4|Q96Q18|Q9BYD4|Q9NYX6|Q9NYX7|Q9NYX8	Silent	SNP	ENST00000357560.4	37	c.1422C>G	CCDS4229.1																																																																																				0.597	APBB3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251677.2		NM_006051		41	66	0	0	0	0.006999	0	41	66		
PCDHA10	56139	broad.mit.edu	37	5	140237513	140237513	+	Missense_Mutation	SNP	C	C	T	rs529968685		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:140237513C>T	ENST00000307360.5	+	1	1880	c.1880C>T	c.(1879-1881)aCg>aTg	p.T627M	PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	627	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCTGTACACGGGCGAGATC	0.647																																						uc003lhx.2		NaN																	0				ovary(2)|skin(2)|breast(1)	5						c.(1879-1881)ACG>ATG		protocadherin alpha 10 isoform 1 precursor							68.0	73.0	71.0					5																	140237513		1324	2291	3615	SO:0001583	missense	56139				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140237513C>T	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1880C>T	5.37:g.140237513C>T	ENSP00000304234:p.Thr627Met					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_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc011dad.1_Missense_Mutation_p.T627M	p.T627M	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1880	+			627			Extracellular (Potential).|Cadherin 6.		A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.1880C>T	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.034689	0.35893	.	.	ENSG00000250120	ENST00000307360	T	0.58060	0.36	3.49	2.59	0.31030	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.78246	0.4253	H	0.96691	3.865	0.09310	N	1	D;D	0.71674	0.998;0.993	P;P	0.59115	0.852;0.819	T	0.72561	-0.4256	9	0.72032	D	0.01	.	13.7759	0.63053	0.0:0.6044:0.3956:0.0	.	627;627	Q9Y5I2-3;Q9Y5I2	.;PCDAA_HUMAN	M	627	ENSP00000304234:T627M	ENSP00000304234:T627M	T	+	2	0	PCDHA10	140217697	0.000000	0.05858	0.991000	0.47740	0.946000	0.59487	-1.713000	0.01883	0.764000	0.33197	0.491000	0.48974	ACG		0.647	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2		NM_018901		15	3	0	0	0	0.003163	0	15	3		
PCDHGB1	56104	broad.mit.edu	37	5	140730558	140730558	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:140730558A>G	ENST00000523390.1	+	1	731	c.731A>G	c.(730-732)tAc>tGc	p.Y244C	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	244	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGAGGTATACAGGGTTAGC	0.567																																						uc003ljo.1		NaN																	0					0						c.(730-732)TAC>TGC		protocadherin gamma subfamily B, 1 isoform 1							87.0	90.0	89.0					5																	140730558		1993	4172	6165	SO:0001583	missense	56104				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140730558A>G	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.731A>G	5.37:g.140730558A>G	ENSP00000429273:p.Tyr244Cys					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Missense_Mutation_p.Y244C	p.Y244C	NM_018922	NP_061745	Q9Y5G3	PCDGD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	731	+			244			Extracellular (Potential).|Cadherin 3.		Q3SY75|Q9Y5C8	Missense_Mutation	SNP	ENST00000523390.1	37	c.731A>G	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	13.55	2.270165	0.40194	.	.	ENSG00000254221	ENST00000523390	T	0.48836	0.8	5.58	4.4	0.53042	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.81664	0.4870	H	0.99516	4.605	0.32013	N	0.601859	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.88488	0.3073	9	0.87932	D	0	.	12.7322	0.57204	0.8624:0.1376:0.0:0.0	.	244;244	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	C	244	ENSP00000429273:Y244C	ENSP00000429273:Y244C	Y	+	2	0	PCDHGB1	140710742	1.000000	0.71417	0.022000	0.16811	0.461000	0.32589	5.870000	0.69620	1.019000	0.39547	0.460000	0.39030	TAC		0.567	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1		NM_018922		16	46	0	0	0	0.004007	0	16	46		
PCDH1	5097	broad.mit.edu	37	5	141244801	141244801	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:141244801G>A	ENST00000394536.3	-	3	1234	c.1095C>T	c.(1093-1095)aaC>aaT	p.N365N	PCDH1_ENST00000536585.1_Silent_p.N343N|PCDH1_ENST00000456271.1_Silent_p.N353N|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000287008.3_Silent_p.N365N	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	365	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CACTCTTGGGGTTGGTGCCTC	0.577																																					Ovarian(132;1609 1739 4190 14731 45037)	uc003llq.2		NaN																	0				ovary(5)	5						c.(1093-1095)AAC>AAT		protocadherin 1 isoform 1 precursor							123.0	116.0	118.0					5																	141244801		2203	4300	6503	SO:0001819	synonymous_variant	5097				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	g.chr5:141244801G>A	AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.1095C>T	5.37:g.141244801G>A						PCDH1_uc003llp.2_Silent_p.N365N|PCDH1_uc011dbf.1_Silent_p.N343N	p.N365N	NM_002587	NP_002578	Q08174	PCDH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)	3	1212	-		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	365			Extracellular (Potential).|Cadherin 3.		Q8IUP2	Silent	SNP	ENST00000394536.3	37	c.1095C>T	CCDS43375.1																																																																																				0.577	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1		NM_032420		19	104	0	0	0	0.014323	0	19	104		
RBM27	54439	broad.mit.edu	37	5	145634557	145634557	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:145634557C>T	ENST00000265271.5	+	10	1662	c.1496C>T	c.(1495-1497)tCt>tTt	p.S499F	RBM27_ENST00000506502.1_Missense_Mutation_p.S444F	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	499					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATTACTAGTTCTGGTAGATCT	0.408																																						uc003lnz.3		NaN																	0				central_nervous_system(2)|pancreas(1)	3						c.(1495-1497)TCT>TTT		RNA binding motif protein 27							109.0	95.0	99.0					5																	145634557		1568	3582	5150	SO:0001583	missense	54439				mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr5:145634557C>T	AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.1496C>T	5.37:g.145634557C>T	ENSP00000265271:p.Ser499Phe					RBM27_uc003lny.2_Missense_Mutation_p.S444F	p.S499F	NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		10	1662	+			499					Q8IYW9	Missense_Mutation	SNP	ENST00000265271.5	37	c.1496C>T	CCDS43378.1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.712618	0.68730	.	.	ENSG00000091009	ENST00000265271	T	0.46819	0.86	5.23	5.23	0.72850	.	0.274240	0.31323	N	0.007845	T	0.34687	0.0906	N	0.14661	0.345	0.43977	D	0.996661	B;B	0.28512	0.214;0.214	B;B	0.28784	0.058;0.094	T	0.10776	-1.0615	10	0.29301	T	0.29	-13.5438	19.1633	0.93543	0.0:1.0:0.0:0.0	.	499;444	Q9P2N5;B3KY61	RBM27_HUMAN;.	F	499	ENSP00000265271:S499F	ENSP00000265271:S499F	S	+	2	0	RBM27	145614750	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.294000	0.78760	2.601000	0.87937	0.650000	0.86243	TCT		0.408	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1		XM_291128		16	31	0	0	0	0.007413	0	16	31		
GPR151	134391	broad.mit.edu	37	5	145895361	145895361	+	Missense_Mutation	SNP	G	G	T	rs147138565	byFrequency	TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:145895361G>T	ENST00000311104.2	-	1	392	c.316C>A	c.(316-318)Cta>Ata	p.L106I		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	106						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AACCAGCCTAGATCCCAAACA	0.507																																					Pancreas(78;420 1386 18535 37114 49710)	uc003lod.1		NaN																	0				ovary(1)|pancreas(1)	2						c.(316-318)CTA>ATA		G protein-coupled receptor 151		G	ILE/LEU	4,4402	8.1+/-20.4	0,4,2199	124.0	120.0	121.0		316	4.9	1.0	5	dbSNP_134	121	0,8600		0,0,4300	yes	missense	GPR151	NM_194251.2	5	0,4,6499	TT,TG,GG		0.0,0.0908,0.0308	probably-damaging	106/420	145895361	4,13002	2203	4300	6503	SO:0001583	missense	134391					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr5:145895361G>T	AY255557	CCDS34266.1	5q32	2012-08-21						"""GPCR / Class A : Orphans"""	23624	protein-coding gene	gene with protein product	"""galanin receptor 4"""					12679517	Standard	NM_194251		Approved	PGR7, GALR4	uc003lod.1	Q8TDV0		ENST00000311104.2:c.316C>A	5.37:g.145895361G>T	ENSP00000308733:p.Leu106Ile						p.L106I	NM_194251	NP_919227	Q8TDV0	GP151_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	316	-			106			Extracellular (Potential).		Q86SN8|Q8NGV2	Missense_Mutation	SNP	ENST00000311104.2	37	c.316C>A	CCDS34266.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.724413	0.68959	9.08E-4	0.0	ENSG00000173250	ENST00000311104	T	0.35789	1.29	5.88	4.94	0.65067	GPCR, rhodopsin-like superfamily (1);	0.159019	0.42821	D	0.000651	T	0.49081	0.1536	L	0.61218	1.895	0.36719	D	0.881092	P	0.52692	0.955	P	0.57204	0.815	T	0.58132	-0.7690	10	0.87932	D	0	.	10.1562	0.42825	0.0777:0.0:0.775:0.1473	.	106	Q8TDV0	GP151_HUMAN	I	106	ENSP00000308733:L106I	ENSP00000308733:L106I	L	-	1	2	GPR151	145875554	1.000000	0.71417	0.977000	0.42913	0.958000	0.62258	4.552000	0.60747	2.782000	0.95742	0.655000	0.94253	CTA		0.507	GPR151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373457.1		NM_194251		14	60	1	0	1.5842e-08	0.001855	1.67351e-08	14	60		
PCYOX1L	78991	broad.mit.edu	37	5	148743624	148743624	+	Silent	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:148743624G>C	ENST00000274569.4	+	3	383	c.321G>C	c.(319-321)gtG>gtC	p.V107V	PCYOX1L_ENST00000514349.1_Silent_p.V17V	NM_024028.3	NP_076933.3	Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	107					prenylcysteine catabolic process (GO:0030328)	extracellular region (GO:0005576)|membrane (GO:0016020)	prenylcysteine oxidase activity (GO:0001735)			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGAGGTGGTGGGCAGGAGCG	0.617																																					Ovarian(62;1136 1477 27277 27495)	uc003lqk.2		NaN																	0				skin(1)	1						c.(319-321)GTG>GTC		prenylcysteine oxidase 1 like precursor							90.0	90.0	90.0					5																	148743624		2203	4300	6503	SO:0001819	synonymous_variant	78991				prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor	g.chr5:148743624G>C		CCDS4296.1	5q33.1	2008-02-05			ENSG00000145882	ENSG00000145882			28477	protein-coding gene	gene with protein product						12477932	Standard	NM_024028		Approved	MGC3265	uc003lqk.2	Q8NBM8	OTTHUMG00000130052	ENST00000274569.4:c.321G>C	5.37:g.148743624G>C						PCYOX1L_uc003lql.2_Silent_p.V90V|PCYOX1L_uc010jgz.2_Silent_p.V90V|PCYOX1L_uc003lqm.2_5'UTR|PCYOX1L_uc003lqn.2_Silent_p.V17V	p.V107V	NM_024028	NP_076933	Q8NBM8	PCYXL_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	383	+			107					Q7Z4S2|Q8NCY5|Q8NF69|Q9BTE8|Q9BWS3	Silent	SNP	ENST00000274569.4	37	c.321G>C	CCDS4296.1																																																																																				0.617	PCYOX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252331.2		NM_024028		11	60	0	0	0	0.013537	0	11	60		
ZNF300	91975	broad.mit.edu	37	5	150275006	150275006	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:150275006G>A	ENST00000274599.5	-	6	2215	c.1795C>T	c.(1795-1797)Cac>Tac	p.H599Y	ZNF300_ENST00000446148.2_Missense_Mutation_p.H615Y|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000418587.2_Missense_Mutation_p.H563Y|ZNF300_ENST00000394226.2_Missense_Mutation_p.H599Y	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	599					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCACTGTGTGAATTCTCTGG	0.388																																						uc003lsy.1		NaN																	0				ovary(1)|skin(1)	2						c.(1795-1797)CAC>TAC		zinc finger protein 300							98.0	99.0	99.0					5																	150275006		2203	4299	6502	SO:0001583	missense	91975				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:150275006G>A	AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"""Zinc fingers, C2H2-type"", ""-"""	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.1795C>T	5.37:g.150275006G>A	ENSP00000274599:p.His599Tyr					IRGM_uc011dcl.1_Intron	p.H599Y	NM_052860	NP_443092	Q96RE9	ZN300_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	2062	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	599			C2H2-type 12.		A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Missense_Mutation	SNP	ENST00000274599.5	37	c.1795C>T	CCDS4311.2	.	.	.	.	.	.	.	.	.	.	G	16.13	3.034736	0.54896	.	.	ENSG00000145908	ENST00000446148;ENST00000274599;ENST00000418587;ENST00000394226	D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44	3.97	3.97	0.46021	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.95529	0.8547	M	0.92738	3.34	0.28157	N	0.929134	D	0.89917	1.0	D	0.97110	1.0	D	0.89992	0.4108	9	0.87932	D	0	.	13.9287	0.63981	0.0:0.0:1.0:0.0	.	599	Q96RE9	ZN300_HUMAN	Y	615;599;563;599	ENSP00000397178:H615Y;ENSP00000274599:H599Y;ENSP00000392593:H563Y;ENSP00000377773:H599Y	ENSP00000274599:H599Y	H	-	1	0	ZNF300	150255199	1.000000	0.71417	0.994000	0.49952	0.646000	0.38490	4.385000	0.59613	2.235000	0.73313	0.591000	0.81541	CAC		0.388	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding			NM_052860		7	46	0	0	0	0.00308	0	7	46		
NMUR2	56923	broad.mit.edu	37	5	151784387	151784387	+	Silent	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:151784387G>T	ENST00000255262.3	-	1	453	c.288C>A	c.(286-288)ctC>ctA	p.L96L	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	96					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|arachidonic acid secretion (GO:0050482)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell-cell signaling (GO:0007267)|central nervous system development (GO:0007417)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|feeding behavior (GO:0007631)|grooming behavior (GO:0007625)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|reduction of food intake in response to dietary excess (GO:0002023)|regulation of smooth muscle contraction (GO:0006940)|response to pain (GO:0048265)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|GTP binding (GO:0005525)|intracellular calcium activated chloride channel activity (GO:0005229)|neuromedin U binding (GO:0042924)|neuromedin U receptor activity (GO:0001607)			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GCATTCCAAGGAGCAGGACCA	0.577																																						uc003luv.2		NaN																	0				ovary(3)|skin(2)|lung(1)|breast(1)|pancreas(1)	8						c.(286-288)CTC>CTA		neuromedin U receptor 2							99.0	103.0	102.0					5																	151784387		2203	4300	6503	SO:0001819	synonymous_variant	56923				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity	g.chr5:151784387G>T	AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911		"""GPCR / Class A : Neuromedin U receptors"""	16454	protein-coding gene	gene with protein product		605108		NMU2R		8940772, 10894543	Standard	NM_020167		Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.288C>A	5.37:g.151784387G>T							p.L96L	NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)		1	454	-		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	96			Helical; Name=2; (Potential).		Q7LC54|Q96AM5|Q9NRA6	Silent	SNP	ENST00000255262.3	37	c.288C>A	CCDS4321.1																																																																																				0.577	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252439.1		NM_020167		33	65	1	0	1.90571e-15	0.004289	2.04828e-15	33	65		
LSM11	134353	broad.mit.edu	37	5	157171172	157171172	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:157171172G>A	ENST00000286307.5	+	1	470	c.414G>A	c.(412-414)agG>agA	p.R138R		NM_173491.2	NP_775762.1	P83369	LSM11_HUMAN	LSM11, U7 small nuclear RNA associated	138					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	histone pre-mRNA 3'end processing complex (GO:0071204)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U7 snRNP (GO:0005683)	U7 snRNA binding (GO:0071209)			breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTCGGAGCAGGAAGGCGCCAC	0.751																																						uc003lxe.1		NaN																	0					0						c.(412-414)AGG>AGA		LSM11, U7 small nuclear RNA associated							3.0	4.0	4.0					5																	157171172		1685	3543	5228	SO:0001819	synonymous_variant	134353				histone mRNA 3'-end processing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription	histone pre-mRNA 3'end processing complex|nucleoplasm|U7 snRNP	protein binding|U7 snRNA binding	g.chr5:157171172G>A	AK095592	CCDS4342.1	5q33.3	2008-02-05	2004-04-28		ENSG00000155858	ENSG00000155858			30860	protein-coding gene	gene with protein product			"""LSM11 homolog, U7 small nuclear RNA associated (S. cerevisiae)"""			12975319	Standard	NM_173491		Approved	FLJ38273	uc003lxe.1	P83369	OTTHUMG00000130255	ENST00000286307.5:c.414G>A	5.37:g.157171172G>A							p.R138R	NM_173491	NP_775762	P83369	LSM11_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	418	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	138					A0AVQ1|Q7Z7P0|Q8N975	Silent	SNP	ENST00000286307.5	37	c.414G>A	CCDS4342.1																																																																																				0.751	LSM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252580.2		NM_173491		3	4	0	0	0	0.004672	0	3	4		
ATP10B	23120	broad.mit.edu	37	5	160033923	160033923	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:160033923C>G	ENST00000327245.5	-	19	3855	c.3009G>C	c.(3007-3009)ttG>ttC	p.L1003F		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1003					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGATGGCATTCAATGTCTTCC	0.512																																						uc003lym.1		NaN																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(3007-3009)TTG>TTC		ATPase, class V, type 10B							128.0	126.0	127.0					5																	160033923		2011	4165	6176	SO:0001583	missense	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160033923C>G	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.3009G>C	5.37:g.160033923C>G	ENSP00000313600:p.Leu1003Phe					ATP10B_uc010jit.1_Missense_Mutation_p.L320F	p.L1003F	NM_025153	NP_079429	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		19	3856	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	1003			Cytoplasmic (Potential).		Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.3009G>C	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.074032	0.55646	.	.	ENSG00000118322	ENST00000327245	D	0.91521	-2.86	5.05	1.82	0.25136	HAD-like domain (1);	0.000000	0.64402	D	0.000005	D	0.94676	0.8283	M	0.87827	2.91	0.51767	D	0.99993	D	0.89917	1.0	D	0.97110	1.0	D	0.93381	0.6743	9	.	.	.	.	9.2591	0.37601	0.0:0.6623:0.0:0.3377	.	1003	O94823	AT10B_HUMAN	F	1003	ENSP00000313600:L1003F	.	L	-	3	2	ATP10B	159966501	0.142000	0.22610	0.872000	0.34217	0.766000	0.43426	0.557000	0.23454	0.540000	0.28808	0.563000	0.77884	TTG		0.512	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1		NM_025153		12	88	0	0	0	0.00245	0	12	88		
HMMR	3161	broad.mit.edu	37	5	162894721	162894721	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:162894721G>A	ENST00000358715.3	+	4	273	c.237G>A	c.(235-237)aaG>aaA	p.K79K	HMMR_ENST00000353866.3_Intron|HMMR_ENST00000393915.4_Silent_p.K80K|HMMR_ENST00000432118.2_Intron			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	79					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	AATCTCAAAAGAATGATAAAG	0.294																																						uc003lzf.2		NaN																	0					0						c.(235-237)AAG>AAA		hyaluronan-mediated motility receptor isoform b							43.0	44.0	44.0					5																	162894721		2203	4296	6499	SO:0001819	synonymous_variant	3161					cell surface|cytoplasm	hyaluronic acid binding	g.chr5:162894721G>A	U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"""CD molecules"""	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.237G>A	5.37:g.162894721G>A						HMMR_uc003lzh.2_Silent_p.K80K|HMMR_uc003lzg.2_Intron|HMMR_uc011dem.1_Intron	p.K79K	NM_012484	NP_036616	O75330	HMMR_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	4	419	+	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	79					A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Silent	SNP	ENST00000358715.3	37	c.237G>A	CCDS4362.1																																																																																				0.294	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252752.1		NM_012484		3	19	0	0	0	0.004672	0	3	19		
SLIT3	6586	broad.mit.edu	37	5	168175367	168175367	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:168175367C>T	ENST00000519560.1	-	20	2629	c.2210G>A	c.(2209-2211)cGa>cAa	p.R737Q	SLIT3_ENST00000332966.8_Missense_Mutation_p.R737Q|SLIT3_ENST00000404867.3_Missense_Mutation_p.R737Q	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	737	LRRNT 4.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTTGCTGCATCGCACCACTGT	0.642																																					Ovarian(29;311 847 10864 17279 24903)	uc003mab.2		NaN																	0				ovary(3)|skin(1)	4						c.(2209-2211)CGA>CAA		slit homolog 3 precursor							72.0	71.0	71.0					5																	168175367		2203	4300	6503	SO:0001583	missense	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168175367C>T	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.2210G>A	5.37:g.168175367C>T	ENSP00000430333:p.Arg737Gln					SLIT3_uc010jjg.2_Missense_Mutation_p.R737Q	p.R737Q	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		20	2630	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	737			LRRNT 4.		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.2210G>A	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	c	36	5.620461	0.96660	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	D;D;D	0.95918	-3.85;-3.85;-3.85	5.3	5.3	0.74995	Leucine-rich repeat-containing N-terminal (2);	0.167150	0.53938	D	0.000050	D	0.96442	0.8839	L	0.38692	1.165	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.97301	0.9931	10	0.87932	D	0	.	19.0096	0.92868	0.0:1.0:0.0:0.0	.	737	O75094	SLIT3_HUMAN	Q	737	ENSP00000430333:R737Q;ENSP00000332164:R737Q;ENSP00000384890:R737Q	ENSP00000332164:R737Q	R	-	2	0	SLIT3	168107945	1.000000	0.71417	0.954000	0.39281	0.894000	0.52154	7.485000	0.81204	2.483000	0.83821	0.550000	0.68814	CGA		0.642	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4		NM_003062		36	64	0	0	0	0.004289	0	36	64		
TLX3	30012	broad.mit.edu	37	5	170736467	170736467	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:170736467C>T	ENST00000296921.5	+	1	180	c.98C>T	c.(97-99)cCc>cTc	p.P33L		NM_021025.2	NP_066305.2	O43711	TLX3_HUMAN	T-cell leukemia homeobox 3	33					central nervous system development (GO:0007417)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of transcription, DNA-templated (GO:0006355)|respiratory gaseous exchange (GO:0007585)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GACAGCGCACCCGCCCCGCGG	0.751			T	BCL11B	T-ALL																																Esophageal Squamous(33;43 807 3116 3348 30094)	uc003mbf.2		NaN		Dom	yes		5	5q35.1	30012	T	"""T-cell leukemia, homeobox 3 (HOX11L2)"""			L	BCL11B		T-ALL		0				central_nervous_system(1)	1						c.(97-99)CCC>CTC		T-cell leukemia homeobox 3							9.0	12.0	11.0					5																	170736467		2165	4236	6401	SO:0001583	missense	30012					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:170736467C>T	AJ223798	CCDS34288.1	5q35.1	2011-06-20	2005-12-22	2002-05-31	ENSG00000164438	ENSG00000164438		"""Homeoboxes / ANTP class : NKL subclass"""	13532	protein-coding gene	gene with protein product		604640	"""homeo box 11-like 2"", ""T-cell leukemia, homeobox 3"""	HOX11L2		11435718, 11435716	Standard	NM_021025		Approved	RNX	uc003mbf.3	O43711	OTTHUMG00000163207	ENST00000296921.5:c.98C>T	5.37:g.170736467C>T	ENSP00000296921:p.Pro33Leu					uc003mbe.1_5'Flank	p.P33L	NM_021025	NP_066305	O43711	TLX3_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		1	180	+	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	33					Q96AD3	Missense_Mutation	SNP	ENST00000296921.5	37	c.98C>T	CCDS34288.1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.507465	0.27036	.	.	ENSG00000164438	ENST00000296921	D	0.90504	-2.68	4.42	3.53	0.40419	.	0.325820	0.33631	N	0.004706	D	0.83880	0.5350	L	0.34521	1.04	0.34918	D	0.748155	B	0.02656	0.0	B	0.04013	0.001	T	0.81258	-0.1014	10	0.27785	T	0.31	.	11.3713	0.49702	0.1825:0.8175:0.0:0.0	.	33	O43711	TLX3_HUMAN	L	33	ENSP00000296921:P33L	ENSP00000296921:P33L	P	+	2	0	TLX3	170669072	0.645000	0.27286	0.281000	0.24762	0.902000	0.53008	3.637000	0.54324	1.048000	0.40298	0.455000	0.32223	CCC		0.751	TLX3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372076.3				3	12	0	0	0	0.004672	0	3	12		
RPL26L1	51121	broad.mit.edu	37	5	172386963	172386963	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:172386963C>T	ENST00000521476.1	+	2	211	c.87C>T	c.(85-87)atC>atT	p.I29I	CTC-308K20.1_ENST00000518894.1_RNA|CTC-308K20.1_ENST00000518818.1_RNA|RPL26L1_ENST00000265100.2_Silent_p.I29I|RPL26L1_ENST00000519974.1_Silent_p.I29I|RPL26L1_ENST00000519239.1_Silent_p.I29I|CTC-308K20.1_ENST00000520067.1_RNA|CTC-308K20.2_ENST00000519755.1_lincRNA			Q9UNX3	RL26L_HUMAN	ribosomal protein L26-like 1	29					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|large ribosomal subunit (GO:0015934)	structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	7	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCAGGAAGATCATGTCATCCC	0.577																																						uc003mcc.2		NaN																	0					0						c.(85-87)ATC>ATT		ribosomal protein L26-like 1							187.0	160.0	169.0					5																	172386963		2203	4300	6503	SO:0001819	synonymous_variant	51121				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome	g.chr5:172386963C>T	AF083248	CCDS4382.1	5q35.2	2008-03-14	2001-12-07	2001-12-14	ENSG00000037241	ENSG00000037241		"""L ribosomal proteins"""	17050	protein-coding gene	gene with protein product			"""ribosomal protein L26 pseudogene 1"""	RPL26P1		11042152	Standard	NM_016093		Approved		uc003mcc.3	Q9UNX3	OTTHUMG00000130517	ENST00000521476.1:c.87C>T	5.37:g.172386963C>T						LOC100268168_uc011dfb.1_5'Flank|LOC100268168_uc011dfc.1_5'Flank	p.I29I	NM_016093	NP_057177	Q9UNX3	RL26L_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		2	129	+	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	29					B3KY82|D3DQM0	Silent	SNP	ENST00000521476.1	37	c.87C>T	CCDS4382.1																																																																																				0.577	RPL26L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372559.1		NM_016093		31	87	0	0	0	0.003271	0	31	87		
RGS14	10636	broad.mit.edu	37	5	176798587	176798587	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:176798587G>A	ENST00000408923.3	+	14	1683	c.1495G>A	c.(1495-1497)Gaa>Aaa	p.E499K	RGS14_ENST00000506944.1_3'UTR	NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	499	GoLoco. {ECO:0000255|PROSITE- ProRule:PRU00097}.				cell division (GO:0051301)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitotic nuclear division (GO:0007067)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of synaptic plasticity (GO:0031914)|nucleocytoplasmic transport (GO:0006913)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neurogenesis (GO:0050769)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to oxidative stress (GO:0006979)|spindle organization (GO:0007051)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual learning (GO:0008542)|zygote asymmetric cell division (GO:0010070)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|microtubule (GO:0005874)|nuclear body (GO:0016604)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|spindle (GO:0005819)|spindle pole (GO:0000922)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|microtubule binding (GO:0008017)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGTGACATCGAAGGTACATG	0.587																																					NSCLC(47;353 1896 28036)	uc003mgf.2		NaN																	0				lung(1)	1						c.(1495-1497)GAA>AAA		regulator of G-protein signalling 14							68.0	74.0	72.0					5																	176798587		2035	4191	6226	SO:0001583	missense	10636				chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity	g.chr5:176798587G>A	AF037195	CCDS43405.1	5q35.3	2008-02-05	2007-08-14		ENSG00000169220	ENSG00000169220		"""Regulators of G-protein signaling"""	9996	protein-coding gene	gene with protein product		602513	"""regulator of G-protein signalling 14"""				Standard	NM_006480		Approved		uc003mgf.3	O43566	OTTHUMG00000163324	ENST00000408923.3:c.1495G>A	5.37:g.176798587G>A	ENSP00000386229:p.Glu499Lys					RGS14_uc003mgh.2_Missense_Mutation_p.E347K|RGS14_uc003mgi.2_Missense_Mutation_p.E270K|RGS14_uc003mgj.2_RNA	p.E499K	NM_006480	NP_006471	O43566	RGS14_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		14	1677	+	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	499			GoLoco.		O43565|Q506M1|Q6ZWA4|Q8TD62	Missense_Mutation	SNP	ENST00000408923.3	37	c.1495G>A	CCDS43405.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.702983	0.88924	.	.	ENSG00000169220	ENST00000408923;ENST00000336477	T	0.57436	0.4	4.92	4.92	0.64577	GoLoco motif (3);	0.119153	0.56097	D	0.000025	T	0.67230	0.2871	L	0.60845	1.875	0.45747	D	0.99864	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.77004	0.989;0.975;0.964	T	0.68727	-0.5332	10	0.62326	D	0.03	-12.6117	12.9412	0.58345	0.0:0.1626:0.8374:0.0	.	270;347;499	B3KUX0;O43566-5;O43566	.;.;RGS14_HUMAN	K	499;280	ENSP00000386229:E499K	ENSP00000336864:E280K	E	+	1	0	RGS14	176731193	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	5.221000	0.65272	2.565000	0.86533	0.557000	0.71058	GAA		0.587	RGS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372676.1		NM_006480		40	58	0	0	0	0.00623	0	40	58		
F12	2161	broad.mit.edu	37	5	176831015	176831015	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:176831015C>T	ENST00000253496.3	-	10	1143	c.1095G>A	c.(1093-1095)aaG>aaA	p.K365K	F12_ENST00000514943.1_5'Flank	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	365					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|plasma kallikrein-kinin cascade (GO:0002353)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibrinolysis (GO:0051919)|positive regulation of plasminogen activation (GO:0010756)|protein autoprocessing (GO:0016540)|protein processing (GO:0016485)|response to misfolded protein (GO:0051788)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	misfolded protein binding (GO:0051787)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Ethanolamine Oleate(DB06689)	AAGACAGACTCTTGCGGAGCC	0.701									Hereditary Angioedema		OREG0017088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003mgo.3		NaN																	0					0						c.(1093-1095)AAG>AAA		coagulation factor XII precursor							14.0	18.0	16.0					5																	176831015		2161	4257	6418	SO:0001819	synonymous_variant	2161	Hereditary_Angioedema	Familial Cancer Database	HAE, type I-III, Hereditary Angioneurotic Edema, HANE,	Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr5:176831015C>T	M31315	CCDS34302.1	5q35.3	2014-09-17			ENSG00000131187	ENSG00000131187	3.4.21.38		3530	protein-coding gene	gene with protein product		610619					Standard	NM_000505		Approved		uc003mgo.4	P00748	OTTHUMG00000163403	ENST00000253496.3:c.1095G>A	5.37:g.176831015C>T			OREG0017088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1934	F12_uc011dfy.1_5'UTR|F12_uc003mgn.3_5'UTR|F12_uc010jkl.2_RNA	p.K365K	NM_000505	NP_000496	P00748	FA12_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		10	1144	-	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	365					P78339	Silent	SNP	ENST00000253496.3	37	c.1095G>A	CCDS34302.1																																																																																				0.701	F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373217.1				8	31	0	0	0	0.008291	0	8	31		
MAML1	9794	broad.mit.edu	37	5	179195951	179195951	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:179195951A>G	ENST00000292599.3	+	3	2095	c.1832A>G	c.(1831-1833)tAt>tGt	p.Y611C	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCTCCCCCTATCTCAGCAGC	0.572																																						uc003mkm.2		NaN																	0				lung(4)|ovary(2)	6						c.(1831-1833)TAT>TGT		mastermind-like 1							110.0	117.0	115.0					5																	179195951		2203	4300	6503	SO:0001583	missense	9794				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	g.chr5:179195951A>G	D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"""mastermind homolog"""	605424	"""mastermind (drosophila)-like 1"""			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.1832A>G	5.37:g.179195951A>G	ENSP00000292599:p.Tyr611Cys					MAML1_uc003mkn.1_Missense_Mutation_p.Y611C	p.Y611C	NM_014757	NP_055572	Q92585	MAML1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	2095	+	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	611						Missense_Mutation	SNP	ENST00000292599.3	37	c.1832A>G	CCDS34315.1	.	.	.	.	.	.	.	.	.	.	A	18.50	3.637895	0.67130	.	.	ENSG00000161021	ENST00000292599;ENST00000376951	T	0.50001	0.76	4.72	3.54	0.40534	.	0.000000	0.56097	D	0.000021	T	0.67192	0.2867	M	0.80183	2.485	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.68390	-0.5421	10	0.66056	D	0.02	-5.0892	10.3263	0.43796	0.8522:0.0:0.0:0.1478	.	648;611	Q59GH4;Q92585	.;MAML1_HUMAN	C	611;648	ENSP00000292599:Y611C	ENSP00000292599:Y611C	Y	+	2	0	MAML1	179128557	1.000000	0.71417	0.940000	0.37924	0.995000	0.86356	3.941000	0.56607	0.637000	0.30526	0.459000	0.35465	TAT		0.572	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2		NM_014757		55	83	0	0	0	0.01441	0	55	83		
TRIM41	90933	broad.mit.edu	37	5	180660709	180660709	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:180660709C>T	ENST00000315073.5	+	5	1947	c.1237C>T	c.(1237-1239)Ctg>Ttg	p.L413L	TRIM41_ENST00000510072.1_3'UTR|TRIM41_ENST00000351937.5_Silent_p.L413L	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	413	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCATGACTTCCTGACAGATGC	0.602																																						uc003mne.1		NaN																	0					0						c.(1237-1239)CTG>TTG		tripartite motif-containing 41 isoform 1							92.0	86.0	88.0					5																	180660709		2203	4300	6503	SO:0001819	synonymous_variant	90933					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	g.chr5:180660709C>T	AF258579	CCDS4465.1, CCDS4466.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146063	ENSG00000146063		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19013	protein-coding gene	gene with protein product	"""RING-finger protein that interacts with C kinase"""	610530	"""tripartite motif-containing 41"""			16022281	Standard	NM_033549		Approved	MGC1127, RINCK	uc003mne.2	Q8WV44	OTTHUMG00000130965	ENST00000315073.5:c.1237C>T	5.37:g.180660709C>T						TRIM41_uc003mnc.1_3'UTR|TRIM41_uc003mnd.1_Silent_p.L413L|TRIM41_uc003mnf.1_RNA|TRIM41_uc003mng.1_5'UTR	p.L413L	NM_033549	NP_291027	Q8WV44	TRI41_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	1931	+	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	413			B30.2/SPRY.		B3KNJ6|D3DWR9|Q5BKT0|Q7L484|Q96Q10|Q9BSL8	Silent	SNP	ENST00000315073.5	37	c.1237C>T	CCDS4466.1																																																																																				0.602	TRIM41-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253574.3		NM_201627		15	51	0	0	0	0.004007	0	15	51		
PHACTR1	221692	broad.mit.edu	37	6	13206114	13206114	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr6:13206114A>G	ENST00000379350.1	+	7	861	c.732A>G	c.(730-732)aaA>aaG	p.K244K	PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Silent_p.K244K|PHACTR1_ENST00000457702.2_Silent_p.K99K			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	244					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			CTCCAAAGAAAGTCATGATCT	0.592																																						uc010jpc.2		NaN																	0					0						c.(730-732)AAA>AAG		phosphatase and actin regulator 1							59.0	64.0	62.0					6																	13206114		1979	4153	6132	SO:0001819	synonymous_variant	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13206114A>G	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.732A>G	6.37:g.13206114A>G						PHACTR1_uc011dir.1_Silent_p.K313K|PHACTR1_uc003nag.1_Silent_p.K244K|PHACTR1_uc003nah.1_Silent_p.K244K	p.K244K	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		8	1064	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	244					A8K1V2|Q3MJ93|Q5JSJ2	Silent	SNP	ENST00000379350.1	37	c.732A>G		.	.	.	.	.	.	.	.	.	.	A	9.421	1.083068	0.20309	.	.	ENSG00000112137	ENST00000415087	T	0.38722	1.12	5.12	5.12	0.69794	.	0.086995	0.85682	D	0.000000	T	0.27731	0.0682	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.07065	-1.0792	7	0.15066	T	0.55	-17.4849	14.251	0.66019	1.0:0.0:0.0:0.0	.	.	.	.	R	79	ENSP00000395948:K79R	ENSP00000395948:K79R	K	+	2	0	PHACTR1	13314093	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.434000	0.66526	2.143000	0.66587	0.459000	0.35465	AAG		0.592	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1		XM_166420		28	33	0	0	0	0.010818	0	28	33		
PPP1R10	5514	broad.mit.edu	37	6	30569384	30569384	+	Missense_Mutation	SNP	C	C	T	rs377763869		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr6:30569384C>T	ENST00000376511.2	-	20	3317	c.2765G>A	c.(2764-2766)cGc>cAc	p.R922H		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	922					protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)	p.R922H(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GTTCTCATAGCGGCAGTTGCC	0.552																																						uc003nqn.1		NaN																	1	Substitution - Missense(1)		endometrium(1)	ovary(2)|lung(1)|kidney(1)	4						c.(2764-2766)CGC>CAC		protein phosphatase 1, regulatory subunit 10		C	HIS/ARG	0,4406		0,0,2203	98.0	72.0	81.0		2765	5.1	1.0	6		81	1,8599	1.2+/-3.3	0,1,4299	no	missense	PPP1R10	NM_002714.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	922/941	30569384	1,13005	2203	4300	6503	SO:0001583	missense	5514				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding	g.chr6:30569384C>T	Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9284	protein-coding gene	gene with protein product	"""phosphatase 1 nuclear targeting subunit"", ""HLA-C associated transcript 53"""	603771	"""protein phosphatase 1, regulatory (inhibitor) subunit 10"""			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.2765G>A	6.37:g.30569384C>T	ENSP00000365694:p.Arg922His					PPP1R10_uc010jsc.1_Missense_Mutation_p.R576H	p.R922H	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN			20	3317	-			922			C3H1-type.		O00405	Missense_Mutation	SNP	ENST00000376511.2	37	c.2765G>A	CCDS4681.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.522821	0.44866	0.0	1.16E-4	ENSG00000204569	ENST00000376511	T	0.46451	0.87	5.06	5.06	0.68205	Zinc finger, CCCH-type (3);	0.104891	0.64402	D	0.000007	T	0.50069	0.1594	L	0.42245	1.32	0.41235	D	0.986608	D	0.89917	1.0	D	0.74674	0.984	T	0.53322	-0.8455	10	0.72032	D	0.01	-12.7685	17.5567	0.87892	0.0:1.0:0.0:0.0	.	922	Q96QC0	PP1RA_HUMAN	H	922	ENSP00000365694:R922H	ENSP00000365694:R922H	R	-	2	0	PPP1R10	30677363	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.278000	0.65592	2.500000	0.84329	0.555000	0.69702	CGC		0.552	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2		NM_002714		12	14	0	0	0	0.00245	0	12	14		
VARS2	57176	broad.mit.edu	37	6	30884903	30884903	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr6:30884903G>A	ENST00000321897.5	+	8	1407	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K	VARS2_ENST00000416670.2_Missense_Mutation_p.E259K|VARS2_ENST00000541562.1_Missense_Mutation_p.E289K|VARS2_ENST00000542001.1_Missense_Mutation_p.E119K			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	259					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						GGCTGTGACTGAAGCTTTTGT	0.547																																						uc003nsc.1		NaN																	0				ovary(3)|central_nervous_system(1)	4						c.(775-777)GAA>AAA		valyl-tRNA synthetase 2, mitochondrial							153.0	149.0	151.0					6																	30884903		1511	2709	4220	SO:0001583	missense	57176				valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity	g.chr6:30884903G>A	AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	21642	protein-coding gene	gene with protein product	"""valine tRNA ligase 2, mitochondrial"""	612802	"""valyl-tRNA synthetase 2-like"", ""valyl-tRNA synthetase like"", ""valyl-tRNA synthetase 2, mitochondrial (putative)"""	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.775G>A	6.37:g.30884903G>A	ENSP00000316092:p.Glu259Lys					VARS2_uc003nsd.2_Missense_Mutation_p.E259K|VARS2_uc011dmx.1_Missense_Mutation_p.E259K|VARS2_uc011dmy.1_Missense_Mutation_p.E119K|VARS2_uc011dmz.1_Missense_Mutation_p.E289K|VARS2_uc011dna.1_Missense_Mutation_p.E259K|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA|VARS2_uc011dnd.1_5'Flank|VARS2_uc010jsg.1_5'Flank	p.E259K	NM_020442	NP_065175	Q5ST30	SYVM_HUMAN			8	1407	+			259					A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Missense_Mutation	SNP	ENST00000321897.5	37	c.775G>A	CCDS34387.1	.	.	.	.	.	.	.	.	.	.	G	32	5.171268	0.94807	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000428017;ENST00000541562	T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91	4.98	4.98	0.66077	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.135783	0.52532	D	0.000076	T	0.24275	0.0588	L	0.33293	1	0.53005	D	0.999961	P;P;D	0.55605	0.793;0.754;0.972	P;P;P	0.54706	0.56;0.555;0.759	T	0.01720	-1.1288	10	0.87932	D	0	-14.2443	15.7772	0.78232	0.0:0.0:1.0:0.0	.	259;289;259	B7ZL25;F5GXJ0;Q5ST30	.;.;SYVM_HUMAN	K	259;259;119;259;289	ENSP00000316092:E259K;ENSP00000394802:E259K;ENSP00000438200:E119K;ENSP00000403749:E259K;ENSP00000441000:E289K	ENSP00000316092:E259K	E	+	1	0	VARS2	30992882	1.000000	0.71417	0.957000	0.39632	0.834000	0.47266	8.583000	0.90794	2.581000	0.87130	0.655000	0.94253	GAA		0.547	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2		NM_020442		43	37	0	0	0	0.011902	0	43	37		
C6orf47	57827	broad.mit.edu	37	6	31627076	31627076	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr6:31627076G>C	ENST00000375911.1	-	1	1473	c.649C>G	c.(649-651)Ctc>Gtc	p.L217V	C6orf47-AS1_ENST00000422049.1_RNA	NM_021184.3	NP_067007.3	O95873	CF047_HUMAN	chromosome 6 open reading frame 47	217						cytoplasm (GO:0005737)				NS(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						TGTAGCCAGAGGCCCAGCGGT	0.637																																						uc003nvm.1		NaN																	0				ovary(1)	1						c.(649-651)CTC>GTC		G4 protein							70.0	56.0	61.0					6																	31627076		1509	2708	4217	SO:0001583	missense	57827							g.chr6:31627076G>C	AF129756	CCDS34399.1	6p21.3	2011-12-13			ENSG00000204439	ENSG00000204439			19076	protein-coding gene	gene with protein product						2477242	Standard	NM_021184		Approved	D6S53E, G4	uc003nvm.1	O95873	OTTHUMG00000031172	ENST00000375911.1:c.649C>G	6.37:g.31627076G>C	ENSP00000365076:p.Leu217Val						p.L217V	NM_021184	NP_067007	O95873	CF047_HUMAN			1	1474	-			217					B0UXA1|B0UZ50|Q5SSS6|Q95IG0	Missense_Mutation	SNP	ENST00000375911.1	37	c.649C>G	CCDS34399.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152142	0.78001	.	.	ENSG00000204439	ENST00000375911;ENST00000538106	T	0.48522	0.81	5.62	5.62	0.85841	.	0.000000	0.53938	D	0.000056	T	0.57475	0.2056	M	0.64997	1.995	0.30718	N	0.748536	D	0.76494	0.999	D	0.80764	0.994	T	0.59091	-0.7519	10	0.87932	D	0	-8.6684	15.1593	0.72771	0.0:0.0:1.0:0.0	.	217	O95873	CF047_HUMAN	V	217	ENSP00000365076:L217V	ENSP00000365076:L217V	L	-	1	0	C6orf47	31735055	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.214000	0.51161	2.653000	0.90120	0.655000	0.94253	CTC		0.637	C6orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076324.1		NM_021184		16	18	0	0	0	0.00499	0	16	18		
HLA-DQB1	3119	broad.mit.edu	37	6	32632653	32632653	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr6:32632653C>T	ENST00000399084.1	-	3	479	c.301G>A	c.(301-303)Gag>Aag	p.E101K	HLA-DQB1_ENST00000399082.3_Intron|XXbac-BPG254F23.6_ENST00000443574.1_RNA|HLA-DQB1_ENST00000374943.4_Missense_Mutation_p.E101K|HLA-DQB1_ENST00000434651.2_Missense_Mutation_p.E101K|HLA-DQB1_ENST00000399079.3_Missense_Mutation_p.E101K			P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ beta 1	101	Beta-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|immune response (GO:0006955)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					"""""""Insulin(DB00071)"""	CGGGTCCCCTCCAGGACTTCC	0.672									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																												Esophageal Squamous(151;720 1825 15000 40336 43415)	uc003obw.2		NaN																	0					0						c.(301-303)GAG>AAG		major histocompatibility complex, class II, DQ	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						39.0	41.0	40.0					6																	32632653		2013	4133	6146	SO:0001583	missense	3119	Melanoma_Familial_Clustering_of|ACTH-independent_macronodular_adrenal_hyperplasia|T-cell_Lymphoma_(Cutaneous)__Familial_Clustering_of|Sj_gren_syndrome	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;Sjogren syndrome; ;AIMAH, Cushing disease, Adrenal, Familial	antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32632653C>T		CCDS43451.1, CCDS59006.1	6p21.3	2013-01-11			ENSG00000179344	ENSG00000179344		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4944	protein-coding gene	gene with protein product		604305		HLA-DQB			Standard	NM_001243962		Approved	IDDM1, CELIAC1	uc031snw.1	P01920	OTTHUMG00000031124	ENST00000399084.1:c.301G>A	6.37:g.32632653C>T	ENSP00000382034:p.Glu101Lys					HLA-DQB1_uc010juc.1_Missense_Mutation_p.E56K|HLA-DQB1_uc003obv.2_Missense_Mutation_p.E101K|HLA-DQB1_uc011dqd.1_Missense_Mutation_p.E101K|HLA-DQB1_uc011dqe.1_Missense_Mutation_p.E101K	p.E101K	NM_002123	NP_002114	P01920	DQB1_HUMAN			2	383	-			101			Extracellular (Potential).|Beta-1.		A1KR27|A2RPH3|A4Q9R4|A4USG2|A4USG5|A6N8I7|A9YQA0|B0S7Y7|B1A0K6|B1GXI3|B3VLT3|B5BLN7|B7VU69|C0MQ34|C0MQ35|C8ZL52|C8ZLJ8|C8ZLJ9|C9DRQ3|O19708|O19713|O19724|O62861|O78046|O78221|O78223|O98034|O98201|P01917|P01918|P01919|P03992|P05537|P79482|P79526|P79544|P79551|Q08GC8|Q09035|Q0E4V9|Q1M312|Q29731|Q29877|Q29884|Q29915|Q29966|Q2P9N3|Q2QK85|Q30061|Q30075|Q30076|Q30080|Q30081|Q30082|Q30083|Q30084|Q30089|Q30095|Q31633|Q38I47|Q45UE3|Q4QZB5|Q53I44|Q564J6|Q5G841|Q5ISH1|Q5ISH3|Q5W1E1|Q5Y7G8|Q643R4|Q6B9X1|Q70VH8|Q7YP69|Q8HWH0|Q8MH58|Q8SNB4|Q8SND1|Q8SP70|Q8WMA3|Q9BD17|Q9MYH2|Q9TPA9|Q9XRY6|Q9XRY7|Q9XRZ2	Missense_Mutation	SNP	ENST00000399084.1	37	c.301G>A	CCDS43451.1	.	.	.	.	.	.	.	.	.	.	.	13.55	2.272066	0.40194	.	.	ENSG00000179344	ENST00000399079;ENST00000374943;ENST00000434651;ENST00000399084;ENST00000447884	T;T;T;T	0.00353	7.94;7.94;7.94;7.94	3.87	2.98	0.34508	.	0.326950	0.27807	U	0.017769	T	0.00608	0.0020	H	0.96633	3.855	0.25463	N	0.9879	D;B;B;B;B	0.76494	0.999;0.163;0.042;0.072;0.095	D;B;B;B;B	0.81914	0.995;0.08;0.075;0.075;0.08	T	0.25222	-1.0138	10	0.87932	D	0	.	11.0204	0.47715	0.0:0.8091:0.1909:0.0	.	111;101;66;101;101	Q59F80;A2AAZ0;A2VCT9;Q5Y7D6;Q5Y7A9	.;.;.;.;.	K	101;101;101;101;37	ENSP00000382029:E101K;ENSP00000364080:E101K;ENSP00000407332:E101K;ENSP00000382034:E101K	ENSP00000364080:E101K	E	-	1	0	HLA-DQB1	32740631	0.999000	0.42202	0.033000	0.17914	0.005000	0.04900	2.379000	0.44318	0.817000	0.34445	0.305000	0.20034	GAG		0.672	HLA-DQB1-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276127.1		NM_002123		3	3	0	0	0	0.008291	0	3	3		
TAP1	6890	broad.mit.edu	37	6	32815407	32815407	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr6:32815407G>A	ENST00000354258.4	-	9	2127	c.1966C>T	c.(1966-1968)Caa>Taa	p.Q656*	TAP1_ENST00000425148.2_Nonsense_Mutation_p.Q395*|TAPSAR1_ENST00000453426.1_lincRNA|PSMB9_ENST00000395330.1_Intron|PSMB8_ENST00000374881.2_5'Flank	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	656	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytosol to ER transport (GO:0046967)|defense response (GO:0006952)|intracellular transport of viral protein in host cell (GO:0019060)|peptide transport (GO:0015833)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|TAP complex (GO:0042825)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|MHC class Ib protein binding (GO:0023029)|peptide antigen binding (GO:0042605)|peptide transporter activity (GO:0015197)|protein homodimerization activity (GO:0042803)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21					Lapatinib(DB01259)	ATATTTTCTTGAAGACTTCTT	0.468																																						uc003ocg.2		NaN																	0				skin(1)	1						c.(1966-1968)CAA>TAA		transporter 1, ATP-binding cassette, sub-family							102.0	98.0	99.0					6																	32815407		2203	4300	6503	SO:0001587	stop_gained	6890				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32815407G>A		CCDS4758.1	6p21.3	2014-09-17			ENSG00000168394	ENSG00000168394		"""ATP binding cassette transporters / subfamily B"""	43	protein-coding gene	gene with protein product		170260		ABCB2		1529427, 1946428	Standard	NM_000593		Approved	PSF1, RING4, D6S114E	uc003ocg.3	Q03518	OTTHUMG00000031067	ENST00000354258.4:c.1966C>T	6.37:g.32815407G>A	ENSP00000346206:p.Gln656*					PSMB8_uc003ocf.2_5'Flank|TAP1_uc011dqi.1_Nonsense_Mutation_p.Q395*	p.Q656*	NM_000593	NP_000584	Q03518	TAP1_HUMAN			9	2121	-			656			Cytoplasmic (Potential).|ABC transporter.		Q16149|Q96CP4	Nonsense_Mutation	SNP	ENST00000354258.4	37	c.1966C>T	CCDS4758.1	.	.	.	.	.	.	.	.	.	.	G	39	7.665649	0.98422	.	.	ENSG00000168394	ENST00000354258;ENST00000425148	.	.	.	5.72	1.24	0.21308	.	2.252100	0.01840	N	0.035234	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	-11.1905	7.1796	0.25765	0.0864:0.0:0.4798:0.4338	.	.	.	.	X	656;395	.	ENSP00000346206:Q656X	Q	-	1	0	TAP1	32923385	0.000000	0.05858	0.004000	0.12327	0.972000	0.66771	0.644000	0.24766	0.305000	0.22832	0.643000	0.83706	CAA		0.468	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076087.2		NM_000593		17	25	0	0	0	0.006122	0	17	25		
HLA-DMB	3109	broad.mit.edu	37	6	32908579	32908579	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr6:32908579G>A	ENST00000418107.2	-	1	268	c.6C>T	c.(4-6)atC>atT	p.I2I	XXbac-BPG181M17.5_ENST00000429234.1_Silent_p.I34I|HLA-DMB_ENST00000416244.2_Silent_p.I2I	NM_002118.4	NP_002109.2	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	2					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|MHC class II protein complex assembly (GO:0002399)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001190)|positive regulation of T cell proliferation (GO:0042102)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)	MHC class II protein complex binding (GO:0023026)			breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						GCAGGAATGTGATCATGCTCT	0.622																																						uc003ocl.1		NaN																	0					0						c.(4-6)ATC>ATT		major histocompatibility complex, class II, DM							35.0	25.0	28.0					6																	32908579		1510	2709	4219	SO:0001819	synonymous_variant	3109				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex		g.chr6:32908579G>A		CCDS4760.1	6p21.3	2014-05-16			ENSG00000242574	ENSG00000242574		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4935	protein-coding gene	gene with protein product		142856				1922365	Standard	NM_002118		Approved	D6S221E, RING7	uc003ocl.2	P28068	OTTHUMG00000031176	ENST00000418107.2:c.6C>T	6.37:g.32908579G>A						HLA-DMB_uc003ocj.1_Silent_p.I2I|HLA-DMB_uc011dql.1_Silent_p.I2I	p.I2I	NM_002118	NP_002109	P28068	DMB_HUMAN			1	239	-			2					O77936|Q13012|Q29751|Q58ZE2|Q5SNZ8|Q5STC4|Q9XRX2	Silent	SNP	ENST00000418107.2	37	c.6C>T	CCDS4760.1																																																																																				0.622	HLA-DMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076340.2		NM_002118		3	6	0	0	0	0.004672	0	3	6		
ZBTB22	9278	broad.mit.edu	37	6	33284074	33284074	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr6:33284074T>C	ENST00000431845.2	-	2	771	c.620A>G	c.(619-621)aAc>aGc	p.N207S	TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000426633.2_5'Flank|TAPBP_ENST00000475304.1_5'Flank|ZBTB22_ENST00000418724.1_Missense_Mutation_p.N207S|TAPBP_ENST00000489157.1_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	207					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						GCTGAAGTAGTTGCTGCTGCT	0.627																																						uc003oeb.2		NaN																	0				ovary(1)	1						c.(619-621)AAC>AGC		zinc finger and BTB domain containing 22							36.0	41.0	39.0					6																	33284074		2203	4300	6503	SO:0001583	missense	9278				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33284074T>C	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13085	protein-coding gene	gene with protein product		611439	"""zinc finger protein 297"""	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.620A>G	6.37:g.33284074T>C	ENSP00000407545:p.Asn207Ser					TAPBP_uc003odx.1_5'Flank|TAPBP_uc010jus.1_5'Flank|TAPBP_uc003ody.2_5'Flank|TAPBP_uc003odz.2_5'Flank|TAPBP_uc010jut.1_5'Flank|TAPBP_uc011drc.1_5'Flank|ZBTB22_uc010juu.2_Missense_Mutation_p.N207S	p.N207S	NM_005453	NP_005444	O15209	ZBT22_HUMAN			2	772	-			207					B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Missense_Mutation	SNP	ENST00000431845.2	37	c.620A>G	CCDS4775.1	.	.	.	.	.	.	.	.	.	.	T	12.68	2.011246	0.35511	.	.	ENSG00000236104	ENST00000418724;ENST00000431845	T;T	0.06371	3.31;3.31	4.41	4.41	0.53225	.	0.000000	0.36703	N	0.002448	T	0.05090	0.0136	L	0.42245	1.32	0.50467	D	0.99987	D	0.61080	0.989	P	0.55391	0.775	T	0.47522	-0.9111	10	0.12103	T	0.63	.	11.6568	0.51324	0.0:0.0:0.0:1.0	.	207	O15209	ZBT22_HUMAN	S	207	ENSP00000404403:N207S;ENSP00000407545:N207S	ENSP00000404403:N207S	N	-	2	0	ZBTB22	33392052	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.551000	0.36233	1.850000	0.53721	0.450000	0.29827	AAC		0.627	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2				19	17	0	0	0	0.006122	0	19	17		
KIFC1	3833	broad.mit.edu	37	6	33371898	33371898	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr6:33371898G>A	ENST00000428849.2	+	6	1198	c.748G>A	c.(748-750)Gag>Aag	p.E250K		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	250					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|spindle assembly (GO:0051225)	endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|minus-end-directed microtubule motor activity (GO:0008569)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						CCAACTAGAGGAGAAGGAGGT	0.572																																						uc003oef.3		NaN																	0					0						c.(748-750)GAG>AAG		kinesin family member C1							61.0	60.0	60.0					6																	33371898		2203	4300	6503	SO:0001583	missense	3833				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity	g.chr6:33371898G>A	D14678	CCDS34430.1	6p21.32	2014-05-15	2003-01-09	2003-01-10	ENSG00000237649	ENSG00000237649		"""Kinesins"""	6389	protein-coding gene	gene with protein product		603763	"""kinesin-like 2"""	KNSL2		8276466	Standard	NM_002263		Approved	HSET	uc003oef.4	Q9BW19	OTTHUMG00000031209	ENST00000428849.2:c.748G>A	6.37:g.33371898G>A	ENSP00000393963:p.Glu250Lys					KIFC1_uc011drf.1_Missense_Mutation_p.E242K	p.E250K	NM_002263	NP_002254	Q9BW19	KIFC1_HUMAN			6	1198	+			250			Potential.		O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Missense_Mutation	SNP	ENST00000428849.2	37	c.748G>A	CCDS34430.1	.	.	.	.	.	.	.	.	.	.	G	6.845	0.525234	0.13066	.	.	ENSG00000237649	ENST00000428849	T	0.81330	-1.48	5.17	4.3	0.51218	.	0.559376	0.19767	N	0.106533	T	0.53769	0.1817	L	0.59436	1.845	0.31568	N	0.656672	P;P	0.35174	0.488;0.488	B;B	0.29862	0.108;0.108	T	0.47649	-0.9101	10	0.08381	T	0.77	-29.2627	9.4819	0.38906	0.0957:0.0:0.9043:0.0	.	242;250	B4E063;Q9BW19	.;KIFC1_HUMAN	K	250	ENSP00000393963:E250K	ENSP00000393963:E250K	E	+	1	0	KIFC1	33479876	1.000000	0.71417	0.999000	0.59377	0.021000	0.10359	0.812000	0.27211	1.420000	0.47138	-0.251000	0.11542	GAG		0.572	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076417.1		NM_002263		14	16	0	0	0	0.004007	0	14	16		
C6orf222	389384	broad.mit.edu	37	6	36287385	36287385	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr6:36287385G>A	ENST00000437635.2	-	11	1848	c.1671C>T	c.(1669-1671)atC>atT	p.I557I		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	557										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						GGTGGCGCCTGATCTGGAAGT	0.582																																						uc003oly.2		NaN																	0				skin(2)|ovary(1)|breast(1)	4						c.(1669-1671)ATC>ATT		hypothetical protein LOC389384							50.0	56.0	54.0					6																	36287385		2203	4300	6503	SO:0001819	synonymous_variant	389384							g.chr6:36287385G>A		CCDS34439.1	6p21.31	2012-02-22			ENSG00000189325	ENSG00000189325			33769	protein-coding gene	gene with protein product							Standard	NM_001010903		Approved	DKFZp779B1540	uc003oly.3	P0C671	OTTHUMG00000014591	ENST00000437635.2:c.1671C>T	6.37:g.36287385G>A							p.I557I	NM_001010903	NP_001010903	P0C671	CF222_HUMAN			11	1849	-			557					B2RTY8	Silent	SNP	ENST00000437635.2	37	c.1671C>T	CCDS34439.1																																																																																				0.582	C6orf222-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040338.2		NM_001010903		19	34	0	0	0	0.012319	0	19	34		
ROS1	6098	broad.mit.edu	37	6	117631384	117631384	+	Silent	SNP	C	C	A	rs148504976		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr6:117631384C>A	ENST00000368508.3	-	40	6492	c.6294G>T	c.(6292-6294)gtG>gtT	p.V2098V	ROS1_ENST00000368507.3_Silent_p.V2092V	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	2098	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.V2098V(1)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CTCCAATCTTCACTATCCGTG	0.413			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	uc003pxp.1		NaN		Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	GOPC|ROS1		glioblastoma|NSCLC		1	Substitution - coding silent(1)	p.V2098V(1)	skin(1)	lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25						c.(6292-6294)GTG>GTT		proto-oncogene c-ros-1 protein precursor							101.0	105.0	104.0					6																	117631384		2203	4300	6503	SO:0001819	synonymous_variant	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117631384C>A	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.6294G>T	6.37:g.117631384C>A						ROS1_uc011ebi.1_RNA	p.V2098V	NM_002944	NP_002935	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	40	6493	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	2098			Protein kinase.|Cytoplasmic (Potential).		Q15368|Q5TDB5	Silent	SNP	ENST00000368508.3	37	c.6294G>T	CCDS5116.1																																																																																				0.413	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1				45	37	1	0	1.51943e-15	0.01441	1.63514e-15	45	37		
ROS1	6098	broad.mit.edu	37	6	117683996	117683996	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr6:117683996T>C	ENST00000368508.3	-	21	3349	c.3151A>G	c.(3151-3153)Ata>Gta	p.I1051V	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.I1046V	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1051	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CTTGGTAATATAAATATTCTG	0.348			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	uc003pxp.1		NaN		Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	GOPC|ROS1		glioblastoma|NSCLC		0				lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25						c.(3151-3153)ATA>GTA		proto-oncogene c-ros-1 protein precursor							45.0	47.0	46.0					6																	117683996		2202	4299	6501	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117683996T>C	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.3151A>G	6.37:g.117683996T>C	ENSP00000357494:p.Ile1051Val					ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	p.I1051V	NM_002944	NP_002935	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	21	3350	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	1051			Fibronectin type-III 5.|Extracellular (Potential).		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.3151A>G	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	T	0.006	-2.046667	0.00398	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.52057	0.68;0.68	5.13	-3.26	0.05064	.	0.735454	0.13079	N	0.415413	T	0.06690	0.0171	N	0.04880	-0.145	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.43032	-0.9416	10	0.02654	T	1	.	10.8409	0.46715	0.0:0.5872:0.1228:0.2899	.	1051	P08922	ROS1_HUMAN	V	1051;1046	ENSP00000357494:I1051V;ENSP00000357493:I1046V	ENSP00000357493:I1046V	I	-	1	0	ROS1	117790689	0.812000	0.29077	0.960000	0.40013	0.045000	0.14185	-0.216000	0.09266	-0.637000	0.05516	-0.290000	0.09829	ATA		0.348	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1				14	11	0	0	0	0.001855	0	14	11		
TRMT11	60487	broad.mit.edu	37	6	126320655	126320655	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr6:126320655A>G	ENST00000334379.5	+	7	696	c.575A>G	c.(574-576)cAc>cGc	p.H192R	TRMT11_ENST00000450358.1_Missense_Mutation_p.H192R|TRMT11_ENST00000368332.3_Missense_Mutation_p.H192R	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	192					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)|tRNA binding (GO:0000049)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		AAAAAGAGACACTTTATTGGA	0.338																																						uc003qam.2		NaN																	0				ovary(1)	1						c.(574-576)CAC>CGC		tRNA methyltransferase 11							141.0	126.0	131.0					6																	126320655		2203	4295	6498	SO:0001583	missense	60487				tRNA processing		methyltransferase activity|nucleic acid binding	g.chr6:126320655A>G	AF182423	CCDS35496.1	6q11.1-q22.33	2009-06-15	2006-11-28	2006-11-28	ENSG00000066651	ENSG00000066651			21080	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 75"""	C6orf75			Standard	XM_006715546		Approved	MDS024, dJ187J11.2, TRM11, TRMT11-1	uc003qam.3	Q7Z4G4	OTTHUMG00000015515	ENST00000334379.5:c.575A>G	6.37:g.126320655A>G	ENSP00000333934:p.His192Arg					TRMT11_uc003qan.2_RNA|TRMT11_uc010kev.2_Missense_Mutation_p.H192R	p.H192R	NM_001031712	NP_001026882	Q7Z4G4	TRM11_HUMAN		GBM - Glioblastoma multiforme(226;0.0356)	7	696	+			192					E1P570|Q5JY11|Q6PGQ5|Q9HC13	Missense_Mutation	SNP	ENST00000334379.5	37	c.575A>G	CCDS35496.1	.	.	.	.	.	.	.	.	.	.	A	18.02	3.530985	0.64972	.	.	ENSG00000066651	ENST00000334379;ENST00000450358;ENST00000368332;ENST00000446681	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	5.19	5.19	0.71726	Putative RNA methylase (1);	0.000000	0.85682	D	0.000000	T	0.33177	0.0854	N	0.17082	0.46	0.80722	D	1	P;D	0.53619	0.78;0.961	B;P	0.57101	0.343;0.813	T	0.14699	-1.0463	10	0.22109	T	0.4	-12.5621	15.0351	0.71738	1.0:0.0:0.0:0.0	.	192;192	Q7Z4G4-2;Q7Z4G4	.;TRM11_HUMAN	R	192;192;192;129	ENSP00000333934:H192R;ENSP00000405140:H192R;ENSP00000357316:H192R;ENSP00000415724:H129R	ENSP00000333934:H192R	H	+	2	0	TRMT11	126362348	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.339000	0.96797	1.944000	0.56390	0.533000	0.62120	CAC		0.338	TRMT11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_021820		32	16	0	0	0	0.010818	0	32	16		
SAMD3	154075	broad.mit.edu	37	6	130465682	130465682	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr6:130465682G>T	ENST00000368134.2	-	14	2154	c.1546C>A	c.(1546-1548)Cag>Aag	p.Q516K	RP11-73O6.3_ENST00000609978.1_RNA|SAMD3_ENST00000437477.2_Missense_Mutation_p.Q516K|RP11-73O6.3_ENST00000415964.1_RNA|SAMD3_ENST00000439090.2_Missense_Mutation_p.Q516K|SAMD3_ENST00000457563.2_Missense_Mutation_p.Q540K	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	516										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		AGTGGGTGCTGAAATCCTACT	0.368																																						uc003qbv.2		NaN																	0				ovary(1)	1						c.(1546-1548)CAG>AAG		sterile alpha motif domain containing 3 isoform							94.0	91.0	92.0					6																	130465682		2203	4300	6503	SO:0001583	missense	154075							g.chr6:130465682G>T	AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"""Sterile alpha motif (SAM) domain containing"""	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.1546C>A	6.37:g.130465682G>T	ENSP00000357116:p.Gln516Lys					SAMD3_uc003qbx.2_Missense_Mutation_p.Q516K|SAMD3_uc003qbw.2_Missense_Mutation_p.Q516K	p.Q516K	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN		GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)	13	1872	-			516					B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Missense_Mutation	SNP	ENST00000368134.2	37	c.1546C>A	CCDS34539.1	.	.	.	.	.	.	.	.	.	.	G	4.490	0.090806	0.08632	.	.	ENSG00000164483	ENST00000368134;ENST00000457563;ENST00000439090;ENST00000437477	T;T;T;T	0.51325	0.75;0.71;0.75;0.75	4.76	2.97	0.34412	.	0.575910	0.15889	N	0.239639	T	0.22898	0.0553	M	0.62723	1.935	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.31558	-0.9939	10	0.87932	D	0	.	5.7146	0.17952	0.1656:0.0:0.6228:0.2116	.	516	Q8N6K7	SAMD3_HUMAN	K	516;540;516;516	ENSP00000357116:Q516K;ENSP00000402092:Q540K;ENSP00000403565:Q516K;ENSP00000391163:Q516K	ENSP00000357116:Q516K	Q	-	1	0	SAMD3	130507375	0.002000	0.14202	0.295000	0.24960	0.084000	0.17831	0.057000	0.14279	0.719000	0.32188	0.563000	0.77884	CAG		0.368	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042197.3		NM_152552		9	26	1	0	3.07112e-06	0.010729	3.20885e-06	9	26		
EPB41L2	2037	broad.mit.edu	37	6	131216209	131216209	+	Silent	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr6:131216209G>C	ENST00000337057.3	-	9	1468	c.1287C>G	c.(1285-1287)ctC>ctG	p.L429L	EPB41L2_ENST00000392427.3_Silent_p.L429L|EPB41L2_ENST00000530481.1_Silent_p.L429L|EPB41L2_ENST00000528282.1_Silent_p.L429L|EPB41L2_ENST00000525271.1_Silent_p.L429L|EPB41L2_ENST00000525193.1_Silent_p.L429L|EPB41L2_ENST00000527659.1_Silent_p.L429L|EPB41L2_ENST00000445890.2_Silent_p.L429L|EPB41L2_ENST00000368128.2_Silent_p.L429L|EPB41L2_ENST00000529208.1_Silent_p.L429L|EPB41L2_ENST00000527411.1_Silent_p.L429L	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	429	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CTTTGTAAATGAGAAGTCCAT	0.423																																						uc003qch.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(1285-1287)CTC>CTG		erythrocyte membrane protein band 4.1-like 2							164.0	145.0	152.0					6																	131216209		2203	4300	6503	SO:0001819	synonymous_variant	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131216209G>C	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.1287C>G	6.37:g.131216209G>C						EPB41L2_uc003qcg.1_Silent_p.L429L|EPB41L2_uc011eby.1_Silent_p.L429L|EPB41L2_uc003qci.2_Silent_p.L429L|EPB41L2_uc010kfk.2_Silent_p.L429L|EPB41L2_uc010kfl.1_Silent_p.L429L	p.L429L	NM_001431	NP_001422	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	9	1469	-	Breast(56;0.0639)		429			FERM.		B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Silent	SNP	ENST00000337057.3	37	c.1287C>G	CCDS5141.1																																																																																				0.423	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3				49	34	0	0	0	0.01441	0	49	34		
UTRN	7402	broad.mit.edu	37	6	144898326	144898326	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr6:144898326G>A	ENST00000367545.3	+	50	7381	c.7381G>A	c.(7381-7383)Gaa>Aaa	p.E2461K		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2461					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GTGGATCCAAGAAGCAGAGAC	0.512																																						uc003qkt.2		NaN																	0				ovary(4)|pancreas(1)	5						c.(7381-7383)GAA>AAA		utrophin							136.0	108.0	118.0					6																	144898326		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144898326G>A	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.7381G>A	6.37:g.144898326G>A	ENSP00000356515:p.Glu2461Lys						p.E2461K	NM_007124	NP_009055	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	50	7473	+		Ovarian(120;0.218)	2461			Spectrin 17.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.7381G>A	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	35	5.436981	0.96168	.	.	ENSG00000152818	ENST00000367545	T	0.57595	0.39	6.03	6.03	0.97812	.	0.000000	0.52532	D	0.000076	T	0.51958	0.1705	M	0.73217	2.22	0.80722	D	1	B	0.24963	0.115	B	0.40982	0.345	T	0.51036	-0.8756	10	0.15499	T	0.54	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	2461	P46939	UTRO_HUMAN	K	2461	ENSP00000356515:E2461K	ENSP00000356515:E2461K	E	+	1	0	UTRN	144940019	1.000000	0.71417	0.959000	0.39883	0.967000	0.64934	9.294000	0.96088	2.861000	0.98227	0.655000	0.94253	GAA		0.512	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1				22	20	0	0	0	0.014323	0	22	20		
TIAM2	26230	broad.mit.edu	37	6	155561805	155561805	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr6:155561805A>G	ENST00000461783.3	+	18	4583	c.3310A>G	c.(3310-3312)Atc>Gtc	p.I1104V	TIAM2_ENST00000528391.2_Missense_Mutation_p.I440V|TIAM2_ENST00000367174.2_Missense_Mutation_p.I480V|TIAM2_ENST00000275246.7_Missense_Mutation_p.I29V|TIAM2_ENST00000456877.2_Missense_Mutation_p.I416V|TIAM2_ENST00000360366.4_Missense_Mutation_p.I1128V|TIAM2_ENST00000529824.2_Missense_Mutation_p.I1104V|TIAM2_ENST00000318981.5_Missense_Mutation_p.I1104V|TIAM2_ENST00000456144.1_Missense_Mutation_p.I1104V			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1104	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CCGCAAAGTCATCCAGGAGCT	0.567																																						uc003qqb.2		NaN																	0				ovary(3)|breast(1)	4						c.(3310-3312)ATC>GTC		T-cell lymphoma invasion and metastasis 2							54.0	52.0	53.0					6																	155561805		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155561805A>G		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.3310A>G	6.37:g.155561805A>G	ENSP00000437188:p.Ile1104Val					TIAM2_uc003qqe.2_Missense_Mutation_p.I1104V|TIAM2_uc010kjj.2_Missense_Mutation_p.I637V|TIAM2_uc003qqf.2_Missense_Mutation_p.I480V|TIAM2_uc011efl.1_Missense_Mutation_p.I440V|TIAM2_uc003qqg.2_Missense_Mutation_p.I416V|TIAM2_uc003qqh.2_Missense_Mutation_p.I29V	p.I1104V	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	18	4583	+		Ovarian(120;0.196)	1104			DH.		B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.3310A>G	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.380037	0.82682	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391;ENST00000275246;ENST00000462408	T;T;T;T;T;T;T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19	5.09	5.09	0.68999	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.50701	0.1631	N	0.25144	0.715	0.46028	D	0.998828	P;D;P;P	0.56746	0.838;0.977;0.928;0.58	P;P;P;P	0.59761	0.819;0.863;0.708;0.722	T	0.51710	-0.8671	10	0.26408	T	0.33	.	13.444	0.61129	1.0:0.0:0.0:0.0	.	440;1104;1128;1104	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	V	1104;1350;1104;1104;1104;480;1128;1104;416;440;29;42	ENSP00000437188:I1104V;ENSP00000434901:I1104V;ENSP00000407746:I1104V;ENSP00000327315:I1104V;ENSP00000356142:I480V;ENSP00000353528:I1128V;ENSP00000433348:I1104V;ENSP00000407183:I416V;ENSP00000435335:I440V;ENSP00000275246:I29V;ENSP00000431269:I42V	ENSP00000275246:I29V	I	+	1	0	TIAM2	155603497	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.750000	0.91623	1.915000	0.55452	0.402000	0.26972	ATC		0.567	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2		NM_012454		16	24	0	0	0	0.008871	0	16	24		
SERAC1	84947	broad.mit.edu	37	6	158565401	158565401	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr6:158565401C>T	ENST00000367104.3	-	7	670	c.539G>A	c.(538-540)gGt>gAt	p.G180D	SERAC1_ENST00000367102.2_Missense_Mutation_p.G180D|SERAC1_ENST00000367101.1_Missense_Mutation_p.G180D	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	180					extracellular matrix organization (GO:0030198)|GPI anchor metabolic process (GO:0006505)|intracellular protein transport (GO:0006886)|phospholipid biosynthetic process (GO:0008654)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		TCGTGCCAAACCAATAAGAGT	0.343																																						uc003qrc.2		NaN																	0					0						c.(538-540)GGT>GAT		serine active site containing 1							85.0	85.0	85.0					6																	158565401		2203	4300	6503	SO:0001583	missense	84947				GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds	g.chr6:158565401C>T	BC001705	CCDS5255.1	6q25.3	2003-05-12			ENSG00000122335	ENSG00000122335			21061	protein-coding gene	gene with protein product		614725					Standard	NM_032861		Approved	FLJ14917	uc003qrc.2	Q96JX3	OTTHUMG00000015905	ENST00000367104.3:c.539G>A	6.37:g.158565401C>T	ENSP00000356071:p.Gly180Asp					SERAC1_uc003qrb.2_5'UTR	p.G180D	NM_032861	NP_116250	Q96JX3	SRAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)	7	681	-		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)	180					Q49AT1|Q5VTX3|Q6PKF3	Missense_Mutation	SNP	ENST00000367104.3	37	c.539G>A	CCDS5255.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.942008	0.92526	.	.	ENSG00000122335	ENST00000367102;ENST00000367104;ENST00000367101	T;T;T	0.70986	-0.53;-0.53;-0.53	5.8	5.8	0.92144	Armadillo-like helical (1);	0.047897	0.85682	D	0.000000	T	0.82162	0.4977	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.83275	-0.0041	10	0.87932	D	0	-25.1192	18.8408	0.92183	0.0:1.0:0.0:0.0	.	180	Q96JX3	SRAC1_HUMAN	D	180	ENSP00000356069:G180D;ENSP00000356071:G180D;ENSP00000356068:G180D	ENSP00000356068:G180D	G	-	2	0	SERAC1	158485389	1.000000	0.71417	0.994000	0.49952	0.955000	0.61496	6.288000	0.72679	2.758000	0.94735	0.563000	0.77884	GGT		0.343	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042862.1		NM_032861		18	19	0	0	0	0.007413	0	18	19		
WDR27	253769	broad.mit.edu	37	6	170047876	170047876	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr6:170047876C>G	ENST00000448612.1	-	16	1759	c.1650G>C	c.(1648-1650)caG>caC	p.Q550H	WDR27_ENST00000423258.1_Missense_Mutation_p.Q423H|WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000333572.6_Missense_Mutation_p.Q550H	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	520						nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		CACCTGAGTACTGGATGCAGC	0.562																																						uc003qwx.2		NaN																	0				pancreas(1)	1						c.(1648-1650)CAG>CAC		RecName: Full=WD repeat-containing protein 27;							9.0	12.0	11.0					6																	170047876		2017	4168	6185	SO:0001583	missense	253769							g.chr6:170047876C>G	AK131435	CCDS47520.1, CCDS47520.2, CCDS56459.1	6q27	2013-01-09	2003-06-18		ENSG00000184465	ENSG00000184465		"""WD repeat domain containing"""	21248	protein-coding gene	gene with protein product							Standard	NM_182552		Approved	MGC43690	uc003qwx.3	A2RRH5	OTTHUMG00000016061	ENST00000448612.1:c.1650G>C	6.37:g.170047876C>G	ENSP00000416289:p.Gln550His					WDR27_uc003qwv.1_RNA|WDR27_uc010kkw.1_Missense_Mutation_p.Q550H|WDR27_uc003qwy.2_Missense_Mutation_p.Q423H	p.Q550H			A2RRH5	WDR27_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)	16	2170	-		Breast(66;1.53e-05)|Ovarian(120;0.216)	520			WD 5.		A5PLM8|C9JGV0|Q5T066	Missense_Mutation	SNP	ENST00000448612.1	37	c.1650G>C	CCDS47520.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.16|12.16	1.853600|1.853600	0.32791|0.32791	.|.	.|.	ENSG00000184465|ENSG00000184465	ENST00000448612;ENST00000333572;ENST00000423258|ENST00000441385	T;T;T|.	0.39997|.	5.0;1.05;5.0|.	3.66|3.66	3.66|3.66	0.41972|0.41972	.|.	0.441046|.	0.20646|.	N|.	0.088308|.	T|T	0.53190|0.53190	0.1781|0.1781	L|L	0.61218|0.61218	1.895|1.895	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.99;1.0;1.0|.	P;D;D|.	0.83275|.	0.844;0.987;0.996|.	T|T	0.54180|0.54180	-0.8332|-0.8332	10|5	0.44086|.	T|.	0.13|.	-22.5847|-22.5847	11.0549|11.0549	0.47911|0.47911	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	550;423;550|.	F2Z2U5;A2RRH5-2;C9JGV0|.	.;.;.|.	H|T	550;550;423|184	ENSP00000416289:Q550H;ENSP00000330265:Q550H;ENSP00000397869:Q423H|.	ENSP00000330265:Q550H|.	Q|S	-|-	3|2	2|0	WDR27|WDR27	169789801|169789801	0.937000|0.937000	0.31787|0.31787	0.975000|0.975000	0.42487|0.42487	0.270000|0.270000	0.26580|0.26580	0.743000|0.743000	0.26231|0.26231	2.047000|2.047000	0.60756|0.60756	0.655000|0.655000	0.94253|0.94253	CAG|AGT		0.562	WDR27-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407334.1		NM_182552		4	2	0	0	0	0.009096	0	4	2		
DLL1	28514	broad.mit.edu	37	6	170597489	170597489	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr6:170597489C>T	ENST00000366756.3	-	4	841	c.508G>A	c.(508-510)Gac>Aac	p.D170N	FAM120B_ENST00000540480.1_5'Flank	NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	170					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|cell-cell signaling (GO:0007267)|compartment pattern specification (GO:0007386)|determination of left/right symmetry (GO:0007368)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|inner ear development (GO:0048839)|left/right axis specification (GO:0070986)|loop of Henle development (GO:0072070)|negative regulation of auditory receptor cell differentiation (GO:0045608)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of myeloid cell differentiation (GO:0045638)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|regulation of cell adhesion (GO:0030155)|somite specification (GO:0001757)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		TACTTGAGGTCCGTGCGGCCG	0.627																																						uc003qxm.2		NaN																	0				lung(4)|ovary(1)	5						c.(508-510)GAC>AAC		delta-like 1 precursor							71.0	58.0	63.0					6																	170597489		2203	4300	6503	SO:0001583	missense	28514				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding	g.chr6:170597489C>T	AF003522	CCDS5313.1	6q13-q22.33	2008-07-28	2001-12-03		ENSG00000198719	ENSG00000198719			2908	protein-coding gene	gene with protein product		606582	"""delta (Drosophila)-like 1"""				Standard	NM_005618		Approved		uc003qxm.3	O00548	OTTHUMG00000016078	ENST00000366756.3:c.508G>A	6.37:g.170597489C>T	ENSP00000355718:p.Asp170Asn					DLL1_uc011ehc.1_Missense_Mutation_p.D170N	p.D170N	NM_005618	NP_005609	O00548	DLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)	4	978	-		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	170			Extracellular (Potential).		B2RAK7|B5M0B3|Q9NU41|Q9UJV2	Missense_Mutation	SNP	ENST00000366756.3	37	c.508G>A	CCDS5313.1	.	.	.	.	.	.	.	.	.	.	C	35	5.556794	0.96514	.	.	ENSG00000198719	ENST00000366756	D	0.95656	-3.77	4.48	4.48	0.54585	Delta/Serrate/lag-2 (DSL) protein (2);	0.116143	0.64402	D	0.000015	D	0.86682	0.5991	N	0.01874	-0.695	0.58432	D	0.999994	P;P	0.48998	0.642;0.918	B;P	0.49140	0.315;0.601	D	0.89579	0.3819	10	0.33940	T	0.23	.	17.3763	0.87392	0.0:1.0:0.0:0.0	.	170;170	B5M0B3;O00548	.;DLL1_HUMAN	N	170	ENSP00000355718:D170N	ENSP00000355718:D170N	D	-	1	0	DLL1	170439414	1.000000	0.71417	0.920000	0.36463	0.869000	0.49853	5.562000	0.67346	2.328000	0.79073	0.563000	0.77884	GAC		0.627	DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043254.1				21	21	0	0	0	0.014323	0	21	21		
EIF3B	8662	broad.mit.edu	37	7	2400441	2400441	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:2400441G>A	ENST00000360876.4	+	2	652	c.596G>A	c.(595-597)cGa>cAa	p.R199Q	EIF3B_ENST00000397011.2_Missense_Mutation_p.R199Q	NM_001037283.1	NP_001032360.1			eukaryotic translation initiation factor 3, subunit B											breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GGACCCGACCGACTTGAGAAA	0.443																																						uc003slx.2		NaN																	0					0						c.(595-597)CGA>CAA		eukaryotic translation initiation factor 3,							91.0	85.0	87.0					7																	2400441		2203	4300	6503	SO:0001583	missense	8662				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity	g.chr7:2400441G>A	U62583	CCDS5332.1	7p22	2013-02-12	2007-07-27	2007-07-27	ENSG00000106263	ENSG00000106263		"""RNA binding motif (RRM) containing"""	3280	protein-coding gene	gene with protein product		603917	"""eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa"""	EIF3S9		8995410	Standard	NM_001037283		Approved	PRT1, eIF3b	uc003sly.3	P55884	OTTHUMG00000022839	ENST00000360876.4:c.596G>A	7.37:g.2400441G>A	ENSP00000354125:p.Arg199Gln					EIF3B_uc003sly.2_Missense_Mutation_p.R199Q|EIF3B_uc003slz.1_Missense_Mutation_p.R160Q|EIF3B_uc003sma.2_5'UTR	p.R199Q	NM_003751	NP_003742	P55884	EIF3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)	2	679	+		Ovarian(82;0.0253)	199			Sufficient for interaction with EIF3E.|RRM.|Sufficient for interaction with EIF3J.			Missense_Mutation	SNP	ENST00000360876.4	37	c.596G>A	CCDS5332.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.238847	0.79800	.	.	ENSG00000106263	ENST00000314800;ENST00000360876;ENST00000413917;ENST00000397011;ENST00000489558	T;T;T	0.46451	0.87;0.87;0.87	5.52	5.52	0.82312	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.60689	0.2288	L	0.58354	1.805	0.80722	D	1	D;D	0.69078	0.989;0.997	P;D	0.63033	0.774;0.91	T	0.57271	-0.7840	10	0.45353	T	0.12	-20.6363	19.7926	0.96466	0.0:0.0:1.0:0.0	.	160;199	A4D210;P55884	.;EIF3B_HUMAN	Q	199;199;160;199;123	ENSP00000354125:R199Q;ENSP00000407785:R160Q;ENSP00000380206:R199Q	ENSP00000316638:R199Q	R	+	2	0	EIF3B	2366967	1.000000	0.71417	0.940000	0.37924	0.984000	0.73092	9.589000	0.98235	2.761000	0.94854	0.655000	0.94253	CGA		0.443	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207006.1				22	45	0	0	0	0.012319	0	22	45		
SLC29A4	222962	broad.mit.edu	37	7	5338755	5338755	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:5338755G>A	ENST00000396872.3	+	8	1180	c.1019G>A	c.(1018-1020)aGa>aAa	p.R340K	SLC29A4_ENST00000297195.4_Missense_Mutation_p.R340K|SLC29A4_ENST00000406453.3_Missense_Mutation_p.R326K			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	340					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	CCCACCTTCAGAGGTGAGTGC	0.721																																						uc003sod.2		NaN																	0				liver(1)	1						c.(1018-1020)AGA>AAA		solute carrier family 29 (nucleoside							10.0	13.0	12.0					7																	5338755		2189	4276	6465	SO:0001583	missense	222962				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity	g.chr7:5338755G>A	AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"""Solute carriers"""	23097	protein-coding gene	gene with protein product		609149	"""solute carrier family 29 (nucleoside transporters), member 4"""			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.1019G>A	7.37:g.5338755G>A	ENSP00000380081:p.Arg340Lys					SLC29A4_uc011jwg.1_RNA|SLC29A4_uc003soc.2_Missense_Mutation_p.R340K|SLC29A4_uc003soe.2_Missense_Mutation_p.R326K|SLC29A4_uc010ksw.2_RNA	p.R340K	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	8	1180	+		Ovarian(82;0.0175)	340			Cytoplasmic (Potential).		Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Missense_Mutation	SNP	ENST00000396872.3	37	c.1019G>A	CCDS5340.1	.	.	.	.	.	.	.	.	.	.	.	9.873	1.199394	0.22121	.	.	ENSG00000164638	ENST00000396872;ENST00000297195;ENST00000406453	T;T;T	0.80123	-1.34;-1.34;-1.34	4.37	4.37	0.52481	Major facilitator superfamily domain, general substrate transporter (1);	0.063230	0.56097	D	0.000032	T	0.63510	0.2517	N	0.13198	0.31	0.43403	D	0.995531	B;B	0.20887	0.049;0.012	B;B	0.20184	0.028;0.012	T	0.59799	-0.7386	10	0.05833	T	0.94	-15.6841	15.0617	0.71961	0.0:0.0:1.0:0.0	.	326;340	Q7RTT9-2;Q7RTT9	.;S29A4_HUMAN	K	340;340;326	ENSP00000380081:R340K;ENSP00000297195:R340K;ENSP00000385845:R326K	ENSP00000297195:R340K	R	+	2	0	SLC29A4	5305281	1.000000	0.71417	0.998000	0.56505	0.201000	0.24016	4.985000	0.63845	1.983000	0.57843	0.431000	0.28591	AGA		0.721	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060118.6		NM_153247		7	20	0	0	0	0.00308	0	7	20		
RNF216	54476	broad.mit.edu	37	7	5760771	5760771	+	Missense_Mutation	SNP	G	G	A	rs201663977		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:5760771G>A	ENST00000425013.2	-	9	1590	c.1366C>T	c.(1366-1368)Ctt>Ttt	p.L456F	RNF216_ENST00000389902.3_Missense_Mutation_p.L513F	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	456					apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		TTATTTTCAAGAAAGAACATC	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		21375	0.0		0.001	False		,,,				2504	0.0					uc003soy.1		NaN																	0				ovary(3)|breast(2)	5						c.(1366-1368)CTT>TTT		ring finger protein 216 isoform b							136.0	129.0	131.0					7																	5760771		2203	4300	6503	SO:0001583	missense	54476				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus|nucleus	ligase activity|protein binding|protein binding|zinc ion binding	g.chr7:5760771G>A	AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"""RING-type (C3HC4) zinc fingers"""	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.1366C>T	7.37:g.5760771G>A	ENSP00000404602:p.Leu456Phe					RNF216_uc010ksz.1_Missense_Mutation_p.L78F|RNF216_uc010kta.1_Missense_Mutation_p.L78F|RNF216_uc011jwj.1_Missense_Mutation_p.L78F|RNF216_uc003sox.1_Missense_Mutation_p.L513F	p.L456F	NM_207116	NP_996999	Q9NWF9	RN216_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)	9	1556	-		Ovarian(82;0.07)	456					Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Missense_Mutation	SNP	ENST00000425013.2	37	c.1366C>T	CCDS34595.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	22.2	4.251311	0.80135	.	.	ENSG00000011275	ENST00000425013;ENST00000389902;ENST00000458425	T;T	0.55413	0.54;0.52	5.6	5.6	0.85130	.	0.171786	0.40222	N	0.001155	T	0.58047	0.2095	N	0.24115	0.695	0.53688	D	0.999978	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	T	0.60052	-0.7338	10	0.56958	D	0.05	-8.2695	11.9812	0.53121	0.0787:0.0:0.9213:0.0	.	456;513	Q9NWF9;Q9NWF9-1	RN216_HUMAN;.	F	456;513;268	ENSP00000404602:L456F;ENSP00000374552:L513F	ENSP00000374552:L513F	L	-	1	0	RNF216	5727297	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.206000	0.51098	2.649000	0.89929	0.484000	0.47621	CTT		0.428	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1		NM_207111		23	49	0	0	0	0.00278	0	23	49		
DNAH11	8701	broad.mit.edu	37	7	21639522	21639522	+	Missense_Mutation	SNP	T	T	A	rs532612017		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:21639522T>A	ENST00000409508.3	+	15	2816	c.2785T>A	c.(2785-2787)Ttc>Atc	p.F929I	DNAH11_ENST00000328843.6_Missense_Mutation_p.F929I	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	929	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CGACTTAGACTTCTTTCTGAA	0.398									Kartagener syndrome				T|||	1	0.000199681	0.0	0.0014	5008	,	,		17231	0.0		0.0	False		,,,				2504	0.0					uc003svc.2		NaN																	0				ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(2785-2787)TTC>ATC		dynein, axonemal, heavy chain 11							87.0	82.0	83.0					7																	21639522		1843	4087	5930	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21639522T>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.2785T>A	7.37:g.21639522T>A	ENSP00000475939:p.Phe929Ile						p.F929I	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			15	2816	+			929			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.2785T>A		.	.	.	.	.	.	.	.	.	.	T	32	5.175891	0.94807	.	.	ENSG00000105877	ENST00000328843	T	0.22134	1.97	5.58	5.58	0.84498	.	0.186237	0.48767	D	0.000173	T	0.34716	0.0907	.	.	.	0.50467	D	0.999877	D	0.63880	0.993	P	0.53954	0.738	T	0.02574	-1.1139	9	0.33940	T	0.23	.	15.7141	0.77655	0.0:0.0:0.0:1.0	.	929	Q96DT5	DYH11_HUMAN	I	929	ENSP00000330671:F929I	ENSP00000330671:F929I	F	+	1	0	DNAH11	21606047	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.693000	0.68264	2.257000	0.74773	0.459000	0.35465	TTC		0.398	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6		NM_003777		5	32	0	0	0	0.000602	0	5	32		
AC005013.5	0	broad.mit.edu	37	7	28996568	28996568	+	lincRNA	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:28996568G>A	ENST00000436594.1	+	0	0				TRIL_ENST00000322982.3_RNA																							CTCGCAGCCGGCAGTCGCAGG	0.687																																						uc003szt.2		NaN																	0					0						c.(1093-1095)TGC>TGT		TLR4 interactor with leucine rich repeats							5.0	7.0	7.0					7																	28996568		1910	3999	5909			9865				inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding	g.chr7:28996568G>A																													7.37:g.28996568G>A						uc003szu.1_5'Flank	p.C365C	NM_014817	NP_055632	Q7L0X0	TRIL_HUMAN			3	1462	-			365			Extracellular (Potential).|LRRCT.			Silent	SNP	ENST00000436594.1	37	c.1095C>T																																																																																					0.687	AC005013.5-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000327953.3				4	10	0	0	0	0.009096	0	4	10		
NEUROD6	63974	broad.mit.edu	37	7	31378784	31378784	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:31378784C>A	ENST00000297142.3	-	2	421	c.99G>T	c.(97-99)aaG>aaT	p.K33N		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	33					cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						AGCTTTCTGGCTTCTTAATTT	0.448																																						uc003tch.2		NaN																	0				ovary(2)	2						c.(97-99)AAG>AAT		neurogenic differentiation 6							137.0	148.0	144.0					7																	31378784		2203	4300	6503	SO:0001583	missense	63974				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:31378784C>A	AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"""Basic helix-loop-helix proteins"""	13804	protein-coding gene	gene with protein product		611513	"""neurogenic differentiation 6"""			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.99G>T	7.37:g.31378784C>A	ENSP00000297142:p.Lys33Asn						p.K33N	NM_022728	NP_073565	Q96NK8	NDF6_HUMAN			2	452	-			33					Q548T9|Q9H3H6	Missense_Mutation	SNP	ENST00000297142.3	37	c.99G>T	CCDS5434.1	.	.	.	.	.	.	.	.	.	.	C	3.611	-0.079588	0.07141	.	.	ENSG00000164600	ENST00000297142	D	0.95377	-3.69	5.28	1.73	0.24493	.	0.243608	0.40302	N	0.001121	D	0.90549	0.7038	L	0.50333	1.59	0.39584	D	0.969484	B	0.02656	0.0	B	0.01281	0.0	T	0.82770	-0.0293	10	0.21014	T	0.42	-17.2115	5.4558	0.16590	0.0:0.2706:0.1549:0.5745	.	33	Q96NK8	NDF6_HUMAN	N	33	ENSP00000297142:K33N	ENSP00000297142:K33N	K	-	3	2	NEUROD6	31345309	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.809000	0.27168	0.870000	0.35726	-0.247000	0.11927	AAG		0.448	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1		NM_022728		44	110	1	0	2.24893e-16	0.009718	2.42626e-16	44	110		
TMED4	222068	broad.mit.edu	37	7	44620691	44620691	+	Splice_Site	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:44620691C>T	ENST00000457408.2	-	4	587		c.e4+1		TMED4_ENST00000444131.2_Intron|TMED4_ENST00000289577.5_Intron|TMED4_ENST00000481238.1_Missense_Mutation_p.A179T	NM_182547.2	NP_872353.2	Q7Z7H5	TMED4_HUMAN	transmembrane emp24 protein transport domain containing 4						positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein transport (GO:0015031)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6						TATGCACTTGCCCTTTGGTAA	0.483																																						uc003tli.2		NaN																	0					0						c.e4+1		transmembrane emp24 protein transport domain							78.0	80.0	79.0					7																	44620691		2203	4300	6503	SO:0001630	splice_region_variant	222068				positive regulation of I-kappaB kinase/NF-kappaB cascade|transport	endoplasmic reticulum membrane|integral to membrane	signal transducer activity	g.chr7:44620691C>T	BC035467	CCDS5493.1	7p13	2004-12-21			ENSG00000158604	ENSG00000158604			22301	protein-coding gene	gene with protein product		612038				12761501	Standard	NM_182547		Approved	HNLF	uc003tli.3	Q7Z7H5	OTTHUMG00000129210	ENST00000457408.2:c.534+1G>A	7.37:g.44620691C>T						TMED4_uc003tlj.2_Missense_Mutation_p.A120T|TMED4_uc003tlk.2_Missense_Mutation_p.A179T|uc003tll.2_5'Flank	p.R178_splice	NM_182547	NP_872353	Q7Z7H5	TMED4_HUMAN			4	556	-								A4D2K8|B4DFJ4|Q56VW3|Q7Z432|Q8N2P6	Splice_Site	SNP	ENST00000457408.2	37	c.534_splice	CCDS5493.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.6|22.6	4.315864|4.315864	0.81469|0.81469	.|.	.|.	ENSG00000158604|ENSG00000158604	ENST00000457408;ENST00000419520|ENST00000481238	.|T	.|0.16324	.|2.35	5.16|5.16	5.16|5.16	0.70880|0.70880	.|.	.|.	.|.	.|.	.|.	.|T	.|0.15522	.|0.0374	.|.	.|.	.|.	0.38275|0.38275	D|D	0.942254|0.942254	.|B	.|0.02656	.|0.0	.|B	.|0.08055	.|0.003	.|T	.|0.04930	.|-1.0917	.|8	.|0.35671	.|T	.|0.21	.|.	16.1875|16.1875	0.81962|0.81962	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|179	.|Q7Z7H5-3	.|.	.|T	-1|179	.|ENSP00000417443:A179T	.|ENSP00000417443:A179T	.|A	-|-	.|1	.|0	TMED4|TMED4	44587216|44587216	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.888000|0.888000	0.51559|0.51559	7.521000|7.521000	0.81832|0.81832	2.683000|2.683000	0.91414|0.91414	0.655000|0.655000	0.94253|0.94253	.|GCA		0.483	TMED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251290.1		NM_182547	Intron	17	43	0	0	0	0.007413	0	17	43		
OGDH	4967	broad.mit.edu	37	7	44739760	44739760	+	Silent	SNP	C	C	T	rs368953616		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:44739760C>T	ENST00000222673.5	+	19	2493	c.2451C>T	c.(2449-2451)ttC>ttT	p.F817F	OGDH_ENST00000447398.1_Silent_p.F828F|OGDH_ENST00000439616.2_Silent_p.F667F|OGDH_ENST00000444676.1_Silent_p.F832F|OGDH_ENST00000449767.1_Silent_p.F813F|OGDH_ENST00000543843.1_Silent_p.F768F	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	817					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	AAGCCAACTTCGACATCAATC	0.542																																						uc003tln.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(2449-2451)TTC>TTT		oxoglutarate dehydrogenase isoform 1 precursor	NADH(DB00157)	C	,	0,4406		0,0,2203	169.0	134.0	146.0		2439,2451	-10.9	0.1	7		146	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	OGDH	NM_001165036.1,NM_002541.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	813/1020,817/1024	44739760	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44739760C>T	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.2451C>T	7.37:g.44739760C>T						OGDH_uc011kbx.1_Silent_p.F813F|OGDH_uc011kby.1_Silent_p.F667F|OGDH_uc003tlp.2_Silent_p.F828F|OGDH_uc011kbz.1_Silent_p.F612F	p.F817F	NM_002541	NP_002532	Q02218	ODO1_HUMAN			19	2560	+			817					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Silent	SNP	ENST00000222673.5	37	c.2451C>T	CCDS34627.1																																																																																				0.542	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1				39	69	0	0	0	0.007835	0	39	69		
TYW1B	441250	broad.mit.edu	37	7	72277753	72277753	+	RNA	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:72277753C>T	ENST00000435769.2	-	0	751				TYW1B_ENST00000438125.1_RNA|TYW1B_ENST00000438904.2_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										GCCTTTCTTGCAGTGGCCGCC	0.517																																						uc011kej.1		NaN																	0					0						c.(628-630)TGC>TAC		tRNA-yW synthesizing protein 1 homolog B isoform							139.0	118.0	125.0					7																	72277753		692	1590	2282			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72277753C>T	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"""radical S-adenosyl methionine and flavodoxin domains 1"", ""non-protein coding RNA 69"", ""long intergenic non-protein coding RNA 69"""		"""tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"""				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72277753C>T						TYW1B_uc011keh.1_Intron|TYW1B_uc011kek.1_RNA	p.C210Y	NM_001145440	NP_001138912	Q6NUM6	TYW1B_HUMAN			5	788	-			210					A6NG09|B4DFY2|Q3KQX2	Missense_Mutation	SNP	ENST00000435769.2	37	c.629G>A																																																																																					0.517	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2		NM_001145440		8	20	0	0	0	0.00308	0	8	20		
WBSCR27	155368	broad.mit.edu	37	7	73255423	73255423	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:73255423C>T	ENST00000297873.4	-	3	278	c.229G>A	c.(229-231)Ggc>Agc	p.G77S		NM_152559.2	NP_689772.2	Q8N6F8	WBS27_HUMAN	Williams Beuren syndrome chromosome region 27	77										NS(1)|central_nervous_system(1)|lung(2)|prostate(1)	5		Lung NSC(55;0.159)				AGGCCTGTGCCACAGGCCACG	0.662																																						uc003tzj.2		NaN																	0				central_nervous_system(1)	1						c.(229-231)GGC>AGC		Williams-Beuren syndrome chromosome region 27							17.0	17.0	17.0					7																	73255423		2196	4296	6492	SO:0001583	missense	155368							g.chr7:73255423C>T	AF534110	CCDS5561.1	7q11.23	2004-07-05			ENSG00000165171	ENSG00000165171			19068	protein-coding gene	gene with protein product		612546					Standard	NM_152559		Approved		uc003tzj.2	Q8N6F8	OTTHUMG00000130033	ENST00000297873.4:c.229G>A	7.37:g.73255423C>T	ENSP00000297873:p.Gly77Ser					RFC2_uc011kfa.1_Intron|WBSCR27_uc011kfd.1_Missense_Mutation_p.G77S	p.G77S	NM_152559	NP_689772	Q8N6F8	WBS27_HUMAN			3	269	-		Lung NSC(55;0.159)	77						Missense_Mutation	SNP	ENST00000297873.4	37	c.229G>A	CCDS5561.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.971637	0.74246	.	.	ENSG00000165171	ENST00000297873	D	0.95103	-3.61	4.32	4.32	0.51571	.	0.058382	0.64402	D	0.000002	D	0.98178	0.9398	H	0.98089	4.145	0.46279	D	0.998964	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98559	1.0640	10	0.87932	D	0	-15.6021	12.4765	0.55817	0.0:1.0:0.0:0.0	.	77;77	B4DWM3;Q8N6F8	.;WBS27_HUMAN	S	77	ENSP00000297873:G77S	ENSP00000297873:G77S	G	-	1	0	WBSCR27	72893359	1.000000	0.71417	0.977000	0.42913	0.645000	0.38454	5.367000	0.66127	2.380000	0.81148	0.561000	0.74099	GGC		0.662	WBSCR27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252312.1		NM_152559		5	13	0	0	0	0.000602	0	5	13		
PTPN12	5782	broad.mit.edu	37	7	77230076	77230076	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:77230076G>A	ENST00000248594.6	+	8	920	c.648G>A	c.(646-648)atG>atA	p.M216I	PTPN12_ENST00000435495.2_Missense_Mutation_p.M86I|PTPN12_ENST00000415482.2_Missense_Mutation_p.M97I	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	216	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						TAAGCTTAATGAGGAAATATC	0.328																																						uc003ugh.2		NaN																	0				ovary(1)|breast(1)|pancreas(1)	3						c.(646-648)ATG>ATA		protein tyrosine phosphatase, non-receptor type							104.0	91.0	95.0					7																	77230076		2203	4300	6503	SO:0001583	missense	5782					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding	g.chr7:77230076G>A		CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.648G>A	7.37:g.77230076G>A	ENSP00000248594:p.Met216Ile					PTPN12_uc011kgp.1_Missense_Mutation_p.M97I|PTPN12_uc011kgq.1_Missense_Mutation_p.M86I	p.M216I	NM_002835	NP_002826	Q05209	PTN12_HUMAN			8	739	+			216			Tyrosine-protein phosphatase.		A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Missense_Mutation	SNP	ENST00000248594.6	37	c.648G>A	CCDS5592.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.772192	0.90108	.	.	ENSG00000127947	ENST00000248594;ENST00000415482;ENST00000543073;ENST00000435495	T;D;D	0.82433	2.93;-1.61;-1.61	5.51	5.51	0.81932	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.84714	0.5533	N	0.13327	0.33	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85440	0.1154	10	0.39692	T	0.17	.	19.4115	0.94675	0.0:0.0:1.0:0.0	.	216	Q05209	PTN12_HUMAN	I	216;97;97;86	ENSP00000248594:M216I;ENSP00000392429:M97I;ENSP00000397991:M86I	ENSP00000248594:M216I	M	+	3	0	PTPN12	77068012	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.807000	0.99171	2.585000	0.87301	0.557000	0.71058	ATG		0.328	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3				3	25	0	0	0	0.004672	0	3	25		
CD36	948	broad.mit.edu	37	7	80301250	80301250	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:80301250A>G	ENST00000435819.1	+	14	1703	c.1019A>G	c.(1018-1020)tAc>tGc	p.Y340C	CD36_ENST00000432207.1_Missense_Mutation_p.Y340C|CD36_ENST00000394788.3_Missense_Mutation_p.Y340C|CD36_ENST00000538969.1_Missense_Mutation_p.Y280C|CD36_ENST00000544133.1_Silent_p.V277V|CD36_ENST00000534394.1_Missense_Mutation_p.Y264C|CD36_ENST00000433696.2_Missense_Mutation_p.Y301C|CD36_ENST00000309881.7_Missense_Mutation_p.Y340C|CD36_ENST00000447544.2_Missense_Mutation_p.Y340C			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	340					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular lipid metabolic process (GO:0044255)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to hydroperoxide (GO:0071447)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cGMP-mediated signaling (GO:0019934)|cholesterol transport (GO:0030301)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|lipoprotein transport (GO:0042953)|long-chain fatty acid import (GO:0044539)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle mediated signaling (GO:0055096)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitric oxide mediated signal transduction (GO:0007263)|phagocytosis, recognition (GO:0006910)|plasma lipoprotein particle clearance (GO:0034381)|plasma membrane long-chain fatty acid transport (GO:0015911)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood microparticle formation (GO:2000334)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of removal of superoxide radicals (GO:2000121)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|lipoprotein particle binding (GO:0071813)|lipoteichoic acid receptor activity (GO:0070892)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|thrombospondin receptor activity (GO:0070053)|transforming growth factor beta binding (GO:0050431)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						AGACCTGTGTACATTTCACTT	0.328																																						uc003uhc.2		NaN																	0				ovary(1)	1						c.(1018-1020)TAC>TGC		CD36 antigen							129.0	125.0	126.0					7																	80301250		2203	4300	6503	SO:0001583	missense	948				cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding	g.chr7:80301250A>G	Z32770	CCDS34673.1	7q11.2	2010-02-26	2006-03-28		ENSG00000135218	ENSG00000135218		"""CD molecules"""	1663	protein-coding gene	gene with protein product		173510	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)"""			7503937	Standard	NM_001001548		Approved	SCARB3, GPIV, FAT, GP4, GP3B	uc003uhg.4	P16671	OTTHUMG00000155383	ENST00000435819.1:c.1019A>G	7.37:g.80301250A>G	ENSP00000399421:p.Tyr340Cys					CD36_uc003uhd.3_Missense_Mutation_p.Y340C|CD36_uc011kgv.1_Missense_Mutation_p.Y264C|CD36_uc003uhe.3_Missense_Mutation_p.Y340C|CD36_uc003uhf.3_Missense_Mutation_p.Y340C|CD36_uc003uhg.3_Missense_Mutation_p.Y340C|CD36_uc003uhh.3_Missense_Mutation_p.Y340C	p.Y340C	NM_001127444	NP_001120916	P16671	CD36_HUMAN			14	1703	+			340			Extracellular (Potential).		D9IX66|D9IX67|D9IX68|D9IX69|Q13966|Q16093|Q8TCV7|Q9BPZ8|Q9BQC2|Q9BZM8|Q9BZN3|Q9BZN4|Q9BZN5	Missense_Mutation	SNP	ENST00000435819.1	37	c.1019A>G	CCDS34673.1	.	.	.	.	.	.	.	.	.	.	A	16.42	3.118938	0.56505	.	.	ENSG00000135218	ENST00000435819;ENST00000309881;ENST00000534394;ENST00000394788;ENST00000447544;ENST00000432207;ENST00000419819;ENST00000538969;ENST00000433696	T;T;T;T;T;T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69;-0.69;-0.69;-0.69;-0.69;-0.69	5.8	4.62	0.57501	.	0.171225	0.53938	D	0.000058	T	0.81541	0.4844	M	0.77313	2.365	0.80722	D	1	D	0.76494	0.999	D	0.69307	0.963	T	0.81097	-0.1087	9	.	.	.	-11.9306	9.9195	0.41455	0.7032:0.0:0.0:0.2968	.	340	P16671	CD36_HUMAN	C	340;340;264;340;340;340;340;280;301	ENSP00000399421:Y340C;ENSP00000308165:Y340C;ENSP00000431296:Y264C;ENSP00000378268:Y340C;ENSP00000415743:Y340C;ENSP00000411411:Y340C;ENSP00000392298:Y340C;ENSP00000439543:Y280C;ENSP00000401863:Y301C	.	Y	+	2	0	CD36	80139186	0.973000	0.33851	0.987000	0.45799	0.963000	0.63663	1.195000	0.32186	0.962000	0.38057	0.482000	0.46254	TAC		0.328	CD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339767.6		NM_001001547		10	41	0	0	0	0.008291	0	10	41		
SEMA3A	10371	broad.mit.edu	37	7	83823856	83823856	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:83823856A>C	ENST00000265362.4	-	1	361	c.47T>G	c.(46-48)cTt>cGt	p.L16R	SEMA3A_ENST00000436949.1_Missense_Mutation_p.L16R	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	16					apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TCTTGCTGTAAGTAATACTCC	0.408																																						uc003uhz.2		NaN																	0				ovary(2)|breast(1)|kidney(1)	4						c.(46-48)CTT>CGT		semaphorin 3A precursor							191.0	187.0	189.0					7																	83823856		2203	4300	6503	SO:0001583	missense	10371				axon guidance	extracellular region|membrane	receptor activity	g.chr7:83823856A>C	L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.47T>G	7.37:g.83823856A>C	ENSP00000265362:p.Leu16Arg						p.L16R	NM_006080	NP_006071	Q14563	SEM3A_HUMAN			1	362	-			16						Missense_Mutation	SNP	ENST00000265362.4	37	c.47T>G	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	A	17.24	3.338686	0.60963	.	.	ENSG00000075213	ENST00000265362;ENST00000436949;ENST00000420047;ENST00000448879;ENST00000424555	T;T;T	0.34472	1.45;1.45;1.36	5.43	5.43	0.79202	.	0.333237	0.32218	N	0.006408	T	0.45776	0.1359	L	0.59436	1.845	0.37203	D	0.904464	P	0.48834	0.916	P	0.48795	0.59	T	0.57388	-0.7820	10	0.72032	D	0.01	.	15.5298	0.75948	1.0:0.0:0.0:0.0	.	16	Q14563	SEM3A_HUMAN	R	16	ENSP00000265362:L16R;ENSP00000415260:L16R;ENSP00000391900:L16R	ENSP00000265362:L16R	L	-	2	0	SEMA3A	83661792	1.000000	0.71417	0.956000	0.39512	0.996000	0.88848	6.552000	0.73914	2.071000	0.62044	0.529000	0.55759	CTT		0.408	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2		NM_006080		25	77	0	0	0	0.007291	0	25	77		
SEMA3D	223117	broad.mit.edu	37	7	84649547	84649547	+	Splice_Site	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:84649547A>G	ENST00000284136.6	-	12	1547		c.e12+1		SEMA3D_ENST00000484038.1_Splice_Site	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D						cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						ACTGAGTCTTACCTTGAATAT	0.413																																					Ovarian(63;442 1191 17318 29975 31528)	uc003uic.2		NaN																	0				ovary(3)|large_intestine(2)	5						c.e12+1		semaphorin 3D precursor							98.0	82.0	87.0					7																	84649547		2203	4300	6503	SO:0001630	splice_region_variant	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84649547A>G	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.1503+1T>C	7.37:g.84649547A>G						SEMA3D_uc010led.2_Splice_Site_p.K501_splice|SEMA3D_uc003uib.2_Splice_Site_p.K140_splice	p.K501_splice	NM_152754	NP_689967	O95025	SEM3D_HUMAN			12	1543	-								A6NK46|Q6UW77|Q8NCQ1	Splice_Site	SNP	ENST00000284136.6	37	c.1503_splice	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.579257	0.86645	.	.	ENSG00000153993	ENST00000284136	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3205	0.74117	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SEMA3D	84487483	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.034000	0.93747	2.050000	0.60909	0.533000	0.62120	.		0.413	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2		NM_152754	Intron	6	28	0	0	0	0.001168	0	6	28		
CYP3A4	1576	broad.mit.edu	37	7	99358539	99358539	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:99358539C>T	ENST00000336411.2	-	12	1502	c.1319G>A	c.(1318-1320)aGa>aAa	p.R440K	CYP3A4_ENST00000354593.2_Missense_Mutation_p.R290K	NM_001202855.2|NM_017460.5	NP_001189784.1|NP_059488.2	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	440					alkaloid catabolic process (GO:0009822)|androgen metabolic process (GO:0008209)|calcitriol biosynthetic process from calciol (GO:0036378)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|lipid metabolic process (GO:0006629)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	albendazole monooxygenase activity (GO:0047638)|caffeine oxidase activity (GO:0034875)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)|quinine 3-monooxygenase activity (GO:0050591)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)|taurochenodeoxycholate 6alpha-hydroxylase activity (GO:0033780)|testosterone 6-beta-hydroxylase activity (GO:0050649)|vitamin D 24-hydroxylase activity (GO:0070576)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Abiraterone(DB05812)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetazolamide(DB00819)|Adinazolam(DB00546)|ado-trastuzumab emtansine(DB05773)|Albendazole(DB00518)|Alclometasone(DB00240)|Aldesleukin(DB00041)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Alimemazine(DB01246)|Aliskiren(DB01258)|Allylestrenol(DB01431)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alosetron(DB00969)|Alprazolam(DB00404)|Ambroxol(DB06742)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Arsenic trioxide(DB01169)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atazanavir(DB01072)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Avanafil(DB06237)|Axitinib(DB06626)|Azatadine(DB00719)|Azelastine(DB00972)|Azithromycin(DB00207)|Bedaquiline(DB08903)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bezafibrate(DB01393)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bisoprolol(DB00612)|Boceprevir(DB08873)|Bortezomib(DB00188)|Bosentan(DB00559)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Brinzolamide(DB01194)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Brompheniramine(DB00835)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Busulfan(DB01008)|Cabazitaxel(DB06772)|Cabergoline(DB00248)|Cabozantinib(DB08875)|Caffeine(DB00201)|Calcitriol(DB00136)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Caspofungin(DB00520)|Cefradine(DB01333)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chenodeoxycholic acid(DB06777)|Chloramphenicol(DB00446)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clemastine(DB00283)|Clevidipine(DB04920)|Clindamycin(DB01190)|Clobazam(DB00349)|Clofazimine(DB00845)|Clofibrate(DB00636)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonazepam(DB01068)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Colchicine(DB01394)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cortisone acetate(DB01380)|Crizotinib(DB08865)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Cytarabine(DB00987)|Dabrafenib(DB08912)|Dalfopristin(DB01764)|Danazol(DB01406)|Dantrolene(DB01219)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Deferasirox(DB01609)|Delavirdine(DB00705)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Dicloxacillin(DB00485)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydrocodeine(DB01551)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Disopyramide(DB00280)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dofetilide(DB00204)|Dolasetron(DB00757)|Dolutegravir(DB08930)|Domperidone(DB01184)|Donepezil(DB00843)|Dorzolamide(DB00869)|Doxepin(DB01142)|Doxorubicin(DB00997)|Doxycycline(DB00254)|Dronabinol(DB00470)|Dronedarone(DB04855)|Dutasteride(DB01126)|Econazole(DB01127)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Epinephrine(DB00668)|Eplerenone(DB00700)|Ergocalciferol(DB00153)|Ergoloid mesylate(DB01049)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Estradiol valerate/Dienogest(DB08866)|Estradiol(DB00783)|Estramustine(DB01196)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Etravirine(DB06414)|Everolimus(DB01590)|Exemestane(DB00990)|Ezetimibe(DB00973)|Famciclovir(DB00426)|Felbamate(DB00949)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Finasteride(DB01216)|Fingolimod(DB08868)|Flucloxacillin(DB00301)|Fluconazole(DB00196)|Flunisolide(DB00180)|Flunitrazepam(DB01544)|Fluorometholone(DB00324)|Fluoxetine(DB00472)|Flurazepam(DB00690)|Flutamide(DB00499)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosamprenavir(DB01319)|Fosphenytoin(DB01320)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Glipizide(DB01067)|Glyburide(DB01016)|Granisetron(DB00889)|Griseofulvin(DB00400)|Guanethidine(DB01170)|Guanfacine(DB01018)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Hydralazine(DB01275)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|Indacaterol(DB05039)|Indapamide(DB00808)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Irinotecan(DB00762)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ixabepilone(DB04845)|Josamycin(DB01321)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Levomethadyl Acetate(DB01227)|Levomilnacipran(DB08918)|Levonorgestrel(DB00367)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Lisuride(DB00589)|Lomitapide(DB08827)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumefantrine(DB06708)|Lurasidone(DB08815)|MACITENTAN(DB08932)|Maraviroc(DB04835)|Mebendazole(DB00643)|Medroxyprogesterone Acetate(DB00603)|Mefloquine(DB00358)|Meloxicam(DB00814)|Mequitazine(DB01071)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Methylergometrine(DB00353)|Methylprednisolone(DB00959)|Methyltestosterone(DB06710)|Metronidazole(DB00916)|Metyrapone(DB01011)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Mitoxantrone(DB01204)|Modafinil(DB00745)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nafcillin(DB00607)|Naloxone(DB01183)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nitric Oxide(DB00435)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Omeprazole(DB00338)|Ondansetron(DB00904)|Orlistat(DB01083)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paramethasone(DB01384)|Paricalcitol(DB00910)|Pazopanib(DB06589)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perampanel(DB08883)|Pergolide(DB01186)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenoxybenzamine(DB00925)|Phenprocoumon(DB00946)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pilocarpine(DB01085)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Prazepam(DB01588)|Praziquantel(DB01058)|Prednisolone(DB00860)|Prednisone(DB00635)|Primaquine(DB01087)|Primidone(DB00794)|Probenecid(DB01032)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Pyridostigmine(DB00545)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Quinupristin(DB01369)|Rabeprazole(DB01129)|Raloxifene(DB00481)|Ramelteon(DB00980)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Regorafenib(DB08896)|Repaglinide(DB00912)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rifapentine(DB01201)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Rimonabant(DB06155)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rivastigmine(DB00989)|Rolitetracycline(DB01301)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosuvastatin(DB01098)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Rufinamide(DB06201)|Ruxolitinib(DB08877)|Salbutamol(DB01001)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sevoflurane(DB01236)|Sibutramine(DB01105)|Sildenafil(DB00203)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Sitaxentan(DB06268)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sufentanil(DB00708)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfanilamide(DB00259)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tasosartan(DB01349)|Telaprevir(DB05521)|Telithromycin(DB00976)|Temazepam(DB00231)|Temozolomide(DB00853)|Temsirolimus(DB06287)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Thiopental(DB00599)|Thiotepa(DB04572)|Tiagabine(DB00906)|Ticagrelor(DB08816)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tioconazole(DB01007)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tofisopam(DB08811)|Tolterodine(DB01036)|Tolvaptan(DB06212)|Topiramate(DB00273)|Topotecan(DB01030)|Toremifene(DB00539)|Trabectedin(DB05109)|Tramadol(DB00193)|Trametinib(DB08911)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Tretinoin(DB00755)|Triamcinolone(DB00620)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vandetanib(DB05294)|Vardenafil(DB00862)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Zidovudine(DB00495)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)|Zopiclone(DB01198)	AATGCAGTTTCTGGGTCCACT	0.393																																						uc003urv.1		NaN																	0				central_nervous_system(3)|ovary(1)	4						c.(1318-1320)AGA>AAA		cytochrome P450, family 3, subfamily A,	Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)						336.0	293.0	307.0					7																	99358539		2203	4300	6503	SO:0001583	missense	1576				alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity	g.chr7:99358539C>T	AF280107	CCDS5674.1	7q21.1	2011-06-21	2003-01-14		ENSG00000160868	ENSG00000160868	1.1.1.161	"""Cytochrome P450s"""	2637	protein-coding gene	gene with protein product		124010	"""cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 4"""	CYP3A3		8269949, 1391968	Standard	NM_001202855		Approved		uc003urv.2	P08684	OTTHUMG00000156651	ENST00000336411.2:c.1319G>A	7.37:g.99358539C>T	ENSP00000337915:p.Arg440Lys					CYP3A4_uc003urw.1_Missense_Mutation_p.R439K|CYP3A4_uc011kiz.1_Missense_Mutation_p.R399K|CYP3A4_uc011kja.1_Missense_Mutation_p.R391K|CYP3A4_uc011kjb.1_Missense_Mutation_p.R290K	p.R440K	NM_017460	NP_059488	P08684	CP3A4_HUMAN			12	1423	-	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)		440					P05184|Q16757|Q9UK50	Missense_Mutation	SNP	ENST00000336411.2	37	c.1319G>A	CCDS5674.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.694312	0.48202	.	.	ENSG00000160868	ENST00000354593;ENST00000336411	D;D	0.84146	-1.81;-1.81	4.47	2.65	0.31530	Cytochrome P450, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.95487	0.8534	H	0.99794	4.785	0.45806	D	0.998687	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.997;0.993;0.993;0.993	D	0.93802	0.7102	10	0.87932	D	0	.	9.1503	0.36959	0.0:0.8284:0.0:0.1716	.	290;367;440;440;440	E7EVM8;Q7Z448;Q6GRK0;Q86SK3;P08684	.;.;.;.;CP3A4_HUMAN	K	290;440	ENSP00000346607:R290K;ENSP00000337915:R440K	ENSP00000337915:R440K	R	-	2	0	CYP3A4	99196475	0.924000	0.31332	0.920000	0.36463	0.032000	0.12392	7.421000	0.80204	0.445000	0.26639	-0.471000	0.05019	AGA		0.393	CYP3A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345059.1				44	68	0	0	0	0.01441	0	44	68		
CYP3A4	1576	broad.mit.edu	37	7	99359668	99359668	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:99359668C>G	ENST00000336411.2	-	11	1432	c.1249G>C	c.(1249-1251)Gaa>Caa	p.E417Q	CYP3A4_ENST00000354593.2_Missense_Mutation_p.E267Q	NM_001202855.2|NM_017460.5	NP_001189784.1|NP_059488.2	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	417					alkaloid catabolic process (GO:0009822)|androgen metabolic process (GO:0008209)|calcitriol biosynthetic process from calciol (GO:0036378)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|lipid metabolic process (GO:0006629)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	albendazole monooxygenase activity (GO:0047638)|caffeine oxidase activity (GO:0034875)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)|quinine 3-monooxygenase activity (GO:0050591)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)|taurochenodeoxycholate 6alpha-hydroxylase activity (GO:0033780)|testosterone 6-beta-hydroxylase activity (GO:0050649)|vitamin D 24-hydroxylase activity (GO:0070576)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Abiraterone(DB05812)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetazolamide(DB00819)|Adinazolam(DB00546)|ado-trastuzumab emtansine(DB05773)|Albendazole(DB00518)|Alclometasone(DB00240)|Aldesleukin(DB00041)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Alimemazine(DB01246)|Aliskiren(DB01258)|Allylestrenol(DB01431)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alosetron(DB00969)|Alprazolam(DB00404)|Ambroxol(DB06742)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Arsenic trioxide(DB01169)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atazanavir(DB01072)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Avanafil(DB06237)|Axitinib(DB06626)|Azatadine(DB00719)|Azelastine(DB00972)|Azithromycin(DB00207)|Bedaquiline(DB08903)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bezafibrate(DB01393)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bisoprolol(DB00612)|Boceprevir(DB08873)|Bortezomib(DB00188)|Bosentan(DB00559)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Brinzolamide(DB01194)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Brompheniramine(DB00835)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Busulfan(DB01008)|Cabazitaxel(DB06772)|Cabergoline(DB00248)|Cabozantinib(DB08875)|Caffeine(DB00201)|Calcitriol(DB00136)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Caspofungin(DB00520)|Cefradine(DB01333)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chenodeoxycholic acid(DB06777)|Chloramphenicol(DB00446)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clemastine(DB00283)|Clevidipine(DB04920)|Clindamycin(DB01190)|Clobazam(DB00349)|Clofazimine(DB00845)|Clofibrate(DB00636)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonazepam(DB01068)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Colchicine(DB01394)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cortisone acetate(DB01380)|Crizotinib(DB08865)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Cytarabine(DB00987)|Dabrafenib(DB08912)|Dalfopristin(DB01764)|Danazol(DB01406)|Dantrolene(DB01219)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Deferasirox(DB01609)|Delavirdine(DB00705)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Dicloxacillin(DB00485)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydrocodeine(DB01551)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Disopyramide(DB00280)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dofetilide(DB00204)|Dolasetron(DB00757)|Dolutegravir(DB08930)|Domperidone(DB01184)|Donepezil(DB00843)|Dorzolamide(DB00869)|Doxepin(DB01142)|Doxorubicin(DB00997)|Doxycycline(DB00254)|Dronabinol(DB00470)|Dronedarone(DB04855)|Dutasteride(DB01126)|Econazole(DB01127)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Epinephrine(DB00668)|Eplerenone(DB00700)|Ergocalciferol(DB00153)|Ergoloid mesylate(DB01049)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Estradiol valerate/Dienogest(DB08866)|Estradiol(DB00783)|Estramustine(DB01196)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Etravirine(DB06414)|Everolimus(DB01590)|Exemestane(DB00990)|Ezetimibe(DB00973)|Famciclovir(DB00426)|Felbamate(DB00949)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Finasteride(DB01216)|Fingolimod(DB08868)|Flucloxacillin(DB00301)|Fluconazole(DB00196)|Flunisolide(DB00180)|Flunitrazepam(DB01544)|Fluorometholone(DB00324)|Fluoxetine(DB00472)|Flurazepam(DB00690)|Flutamide(DB00499)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosamprenavir(DB01319)|Fosphenytoin(DB01320)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Glipizide(DB01067)|Glyburide(DB01016)|Granisetron(DB00889)|Griseofulvin(DB00400)|Guanethidine(DB01170)|Guanfacine(DB01018)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Hydralazine(DB01275)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|Indacaterol(DB05039)|Indapamide(DB00808)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Irinotecan(DB00762)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ixabepilone(DB04845)|Josamycin(DB01321)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Levomethadyl Acetate(DB01227)|Levomilnacipran(DB08918)|Levonorgestrel(DB00367)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Lisuride(DB00589)|Lomitapide(DB08827)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumefantrine(DB06708)|Lurasidone(DB08815)|MACITENTAN(DB08932)|Maraviroc(DB04835)|Mebendazole(DB00643)|Medroxyprogesterone Acetate(DB00603)|Mefloquine(DB00358)|Meloxicam(DB00814)|Mequitazine(DB01071)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Methylergometrine(DB00353)|Methylprednisolone(DB00959)|Methyltestosterone(DB06710)|Metronidazole(DB00916)|Metyrapone(DB01011)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Mitoxantrone(DB01204)|Modafinil(DB00745)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nafcillin(DB00607)|Naloxone(DB01183)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nitric Oxide(DB00435)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Omeprazole(DB00338)|Ondansetron(DB00904)|Orlistat(DB01083)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paramethasone(DB01384)|Paricalcitol(DB00910)|Pazopanib(DB06589)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perampanel(DB08883)|Pergolide(DB01186)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenoxybenzamine(DB00925)|Phenprocoumon(DB00946)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pilocarpine(DB01085)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Prazepam(DB01588)|Praziquantel(DB01058)|Prednisolone(DB00860)|Prednisone(DB00635)|Primaquine(DB01087)|Primidone(DB00794)|Probenecid(DB01032)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Pyridostigmine(DB00545)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Quinupristin(DB01369)|Rabeprazole(DB01129)|Raloxifene(DB00481)|Ramelteon(DB00980)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Regorafenib(DB08896)|Repaglinide(DB00912)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rifapentine(DB01201)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Rimonabant(DB06155)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rivastigmine(DB00989)|Rolitetracycline(DB01301)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosuvastatin(DB01098)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Rufinamide(DB06201)|Ruxolitinib(DB08877)|Salbutamol(DB01001)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sevoflurane(DB01236)|Sibutramine(DB01105)|Sildenafil(DB00203)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Sitaxentan(DB06268)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sufentanil(DB00708)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfanilamide(DB00259)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tasosartan(DB01349)|Telaprevir(DB05521)|Telithromycin(DB00976)|Temazepam(DB00231)|Temozolomide(DB00853)|Temsirolimus(DB06287)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Thiopental(DB00599)|Thiotepa(DB04572)|Tiagabine(DB00906)|Ticagrelor(DB08816)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tioconazole(DB01007)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tofisopam(DB08811)|Tolterodine(DB01036)|Tolvaptan(DB06212)|Topiramate(DB00273)|Topotecan(DB01030)|Toremifene(DB00539)|Trabectedin(DB05109)|Tramadol(DB00193)|Trametinib(DB08911)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Tretinoin(DB00755)|Triamcinolone(DB00620)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vandetanib(DB05294)|Vardenafil(DB00862)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Zidovudine(DB00495)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)|Zopiclone(DB01198)	TTGTACCTTTCAGGGAGGAAC	0.507																																						uc003urv.1		NaN																	0				central_nervous_system(3)|ovary(1)	4						c.(1249-1251)GAA>CAA		cytochrome P450, family 3, subfamily A,	Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)						152.0	142.0	146.0					7																	99359668		2203	4300	6503	SO:0001583	missense	1576				alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity	g.chr7:99359668C>G	AF280107	CCDS5674.1	7q21.1	2011-06-21	2003-01-14		ENSG00000160868	ENSG00000160868	1.1.1.161	"""Cytochrome P450s"""	2637	protein-coding gene	gene with protein product		124010	"""cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 4"""	CYP3A3		8269949, 1391968	Standard	NM_001202855		Approved		uc003urv.2	P08684	OTTHUMG00000156651	ENST00000336411.2:c.1249G>C	7.37:g.99359668C>G	ENSP00000337915:p.Glu417Gln					CYP3A4_uc003urw.1_Missense_Mutation_p.E416Q|CYP3A4_uc011kiz.1_Missense_Mutation_p.E376Q|CYP3A4_uc011kja.1_Missense_Mutation_p.E368Q|CYP3A4_uc011kjb.1_Missense_Mutation_p.E267Q	p.E417Q	NM_017460	NP_059488	P08684	CP3A4_HUMAN			11	1353	-	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)		417					P05184|Q16757|Q9UK50	Missense_Mutation	SNP	ENST00000336411.2	37	c.1249G>C	CCDS5674.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.653578	0.67472	.	.	ENSG00000160868	ENST00000354593;ENST00000336411	T;T	0.74209	-0.82;-0.82	4.35	3.46	0.39613	.	0.049069	0.85682	D	0.000000	D	0.89312	0.6679	H	0.96604	3.85	0.58432	D	0.999993	D;D;D;D;D	0.89917	0.99;1.0;0.992;0.998;0.992	P;D;P;D;P	0.78314	0.83;0.991;0.865;0.916;0.865	D	0.89944	0.4075	10	0.72032	D	0.01	.	9.9676	0.41734	0.0:0.8966:0.0:0.1034	.	267;344;417;417;417	E7EVM8;Q7Z448;Q6GRK0;Q86SK3;P08684	.;.;.;.;CP3A4_HUMAN	Q	267;417	ENSP00000346607:E267Q;ENSP00000337915:E417Q	ENSP00000337915:E417Q	E	-	1	0	CYP3A4	99197604	1.000000	0.71417	0.983000	0.44433	0.742000	0.42306	5.680000	0.68168	0.802000	0.34089	0.561000	0.74099	GAA		0.507	CYP3A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345059.1				25	91	0	0	0	0.00632	0	25	91		
OR2AE1	81392	broad.mit.edu	37	7	99473945	99473945	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:99473945C>G	ENST00000316368.2	-	1	735	c.712G>C	c.(712-714)Gcc>Ccc	p.A238P		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	238						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					CCACAAGTGGCAAAGGCATTT	0.498																																						uc003usc.1		NaN																	0					0						c.(712-714)GCC>CCC		olfactory receptor, family 2, subfamily AE,							76.0	75.0	75.0					7																	99473945		2203	4300	6503	SO:0001583	missense	81392				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:99473945C>G	AC011904	CCDS34696.1	7q22.1	2014-02-19	2002-02-28		ENSG00000244623	ENSG00000244623		"""GPCR / Class A : Olfactory receptors"""	15087	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily AE, member 2"""	OR2AE2			Standard	NM_001005276		Approved		uc003usc.1	Q8NHA4	OTTHUMG00000156650	ENST00000316368.2:c.712G>C	7.37:g.99473945C>G	ENSP00000313936:p.Ala238Pro						p.A238P	NM_001005276	NP_001005276	Q8NHA4	O2AE1_HUMAN			1	712	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		238			Helical; Name=6; (Potential).		B2RPD2	Missense_Mutation	SNP	ENST00000316368.2	37	c.712G>C	CCDS34696.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.486347	0.44147	.	.	ENSG00000244623	ENST00000316368	T	0.00130	8.69	3.84	2.02	0.26589	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39985	N	0.001215	T	0.00384	0.0012	M	0.84511	2.7	0.22142	N	0.999336	D	0.89917	1.0	D	0.91635	0.999	T	0.44605	-0.9317	10	0.87932	D	0	.	3.4844	0.07614	0.1988:0.5858:0.0:0.2154	.	238	Q8NHA4	O2AE1_HUMAN	P	238	ENSP00000313936:A238P	ENSP00000313936:A238P	A	-	1	0	OR2AE1	99311881	0.000000	0.05858	0.999000	0.59377	0.691000	0.40173	-0.325000	0.07976	0.590000	0.29694	0.494000	0.49563	GCC		0.498	OR2AE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345053.1				8	35	0	0	0	0.004482	0	8	35		
MUC17	140453	broad.mit.edu	37	7	100684143	100684143	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:100684143C>T	ENST00000306151.4	+	3	9510	c.9446C>T	c.(9445-9447)tCt>tTt	p.S3149F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3149	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)					CCTACAACTTCTGAAGGTACC	0.488																																						uc003uxp.1		NaN																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(9445-9447)TCT>TTT		mucin 17 precursor							294.0	301.0	299.0					7																	100684143		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100684143C>T	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.9446C>T	7.37:g.100684143C>T	ENSP00000302716:p.Ser3149Phe					MUC17_uc010lho.1_RNA	p.S3149F	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	9499	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3149			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|51.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.9446C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	3.713	-0.059095	0.07317	.	.	ENSG00000169876	ENST00000306151	T	0.02032	4.49	0.905	-1.81	0.07882	.	.	.	.	.	T	0.01976	0.0062	N	0.19112	0.55	0.09310	N	1	D	0.54964	0.969	P	0.50590	0.645	T	0.33599	-0.9862	9	0.11485	T	0.65	.	4.0653	0.09857	0.2476:0.5059:0.2465:0.0	.	3149	Q685J3	MUC17_HUMAN	F	3149	ENSP00000302716:S3149F	ENSP00000302716:S3149F	S	+	2	0	MUC17	100470863	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.036000	0.12185	-1.148000	0.02847	0.121000	0.15741	TCT		0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1		NM_001040105		68	311	0	0	0	0.01441	0	68	311		
LAMB1	3912	broad.mit.edu	37	7	107594021	107594021	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:107594021G>A	ENST00000222399.6	-	22	3263	c.3033C>T	c.(3031-3033)ttC>ttT	p.F1011F	LAMB1_ENST00000393561.1_Silent_p.F1035F	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1011	Laminin EGF-like 10. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						CAAACCGGCAGAACTGACAGT	0.493																																						uc003vew.2		NaN																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8						c.(3031-3033)TTC>TTT		laminin, beta 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						188.0	153.0	165.0					7																	107594021		2203	4300	6503	SO:0001819	synonymous_variant	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107594021G>A	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.3033C>T	7.37:g.107594021G>A						LAMB1_uc003vev.2_Silent_p.F1035F	p.F1011F	NM_002291	NP_002282	P07942	LAMB1_HUMAN			22	3368	-			1011			Laminin EGF-like 10.		Q14D91	Silent	SNP	ENST00000222399.6	37	c.3033C>T	CCDS5750.1																																																																																				0.493	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1		NM_002291		47	36	0	0	0	0.01441	0	47	36		
DOCK4	9732	broad.mit.edu	37	7	111541741	111541741	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:111541741T>C	ENST00000437633.1	-	14	1565	c.1309A>G	c.(1309-1311)Acc>Gcc	p.T437A	DOCK4_ENST00000428084.1_Missense_Mutation_p.T437A|DOCK4_ENST00000476846.1_5'UTR	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	437	DHR-1.				cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				ACCTTCAGGGTTTGGCCACTA	0.358																																						uc003vfx.2		NaN																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4						c.(1309-1311)ACC>GCC		dedicator of cytokinesis 4							97.0	93.0	94.0					7																	111541741		1874	4121	5995	SO:0001583	missense	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111541741T>C		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.1309A>G	7.37:g.111541741T>C	ENSP00000404179:p.Thr437Ala					DOCK4_uc003vfy.2_Missense_Mutation_p.T437A|DOCK4_uc003vga.1_Missense_Mutation_p.T42A	p.T437A	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN			14	1578	-		Acute lymphoblastic leukemia(1;0.0441)	437			DHR-1.		O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	c.1309A>G	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	T	4.859	0.159747	0.09287	.	.	ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	T;T	0.14391	2.51;2.51	5.66	-1.89	0.07689	.	0.740238	0.13503	N	0.383087	T	0.06735	0.0172	N	0.16478	0.41	0.50632	D	0.999882	B;B;B	0.10296	0.002;0.003;0.001	B;B;B	0.15052	0.012;0.007;0.004	T	0.35076	-0.9803	10	0.23302	T	0.38	.	7.0168	0.24892	0.0:0.1371:0.3597:0.5032	.	437;437;437	Q149N2;Q149N5;Q8N1I0	.;.;DOCK4_HUMAN	A	425;437;437;425;436	ENSP00000410746:T437A;ENSP00000404179:T437A	ENSP00000345432:T425A	T	-	1	0	DOCK4	111328977	0.997000	0.39634	0.568000	0.28447	0.094000	0.18550	1.241000	0.32743	-0.441000	0.07201	-0.321000	0.08615	ACC		0.358	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4		NM_014705		11	39	0	0	0	0.008291	0	11	39		
AASS	10157	broad.mit.edu	37	7	121738842	121738842	+	Silent	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:121738842T>C	ENST00000393376.1	-	13	1580	c.1485A>G	c.(1483-1485)gtA>gtG	p.V495V	AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Silent_p.V495V			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	495	Saccharopine dehydrogenase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						AATATTCTAATACAGGCTCAG	0.328																																						uc003vka.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1483-1485)GTA>GTG		aminoadipate-semialdehyde synthase precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)						55.0	63.0	60.0					7																	121738842		2203	4299	6502	SO:0001819	synonymous_variant	10157				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	g.chr7:121738842T>C	AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.1485A>G	7.37:g.121738842T>C						AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Silent_p.V495V|AASS_uc011knw.1_Intron	p.V495V	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN			13	1581	-			495			Saccharopine dehydrogenase.		O95462	Silent	SNP	ENST00000393376.1	37	c.1485A>G	CCDS5783.1																																																																																				0.328	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1		NM_005763		12	61	0	0	0	0.013537	0	12	61		
PAX4	5078	broad.mit.edu	37	7	127251629	127251629	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:127251629C>T	ENST00000338516.3	-	8	816	c.817G>A	c.(817-819)Gag>Aag	p.E273K	PAX4_ENST00000463946.1_Silent_p.L281L|PAX4_ENST00000341640.2_Silent_p.L283L|PAX4_ENST00000378740.2_Silent_p.L283L			O43316	PAX4_HUMAN	paired box 4	0					cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GGGTGTCACTCAGACACCTTT	0.607																																					Ovarian(113;737 1605 7858 27720 34092)	uc010lld.1		NaN																	0				ovary(1)	1						c.(847-849)CTG>CTA		paired box 4							91.0	94.0	93.0					7																	127251629		2203	4300	6503	SO:0001583	missense	5078				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:127251629C>T		CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"""Paired boxes"", ""Homeoboxes / PRD class"""	8618	protein-coding gene	gene with protein product		167413	"""paired box gene 4"""				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000338516.3:c.817G>A	7.37:g.127251629C>T	ENSP00000344297:p.Glu273Lys					PAX4_uc003vmf.2_Silent_p.L281L|PAX4_uc003vmg.1_Silent_p.L283L	p.L283L	NM_006193	NP_006184	O43316	PAX4_HUMAN			8	1055	-			291			Transcription repression.		O95161|Q6B0H0	Silent	SNP	ENST00000338516.3	37	c.849G>A		.	.	.	.	.	.	.	.	.	.	C	13.36	2.215173	0.39102	.	.	ENSG00000106331	ENST00000338516	D	0.94376	-3.41	5.34	2.47	0.30058	.	.	.	.	.	D	0.90861	0.7129	.	.	.	0.18873	N	0.999983	.	.	.	.	.	.	D	0.83724	0.0194	6	0.72032	D	0.01	.	3.9567	0.09393	0.1608:0.5823:0.167:0.0899	.	.	.	.	K	273	ENSP00000344297:E273K	ENSP00000344297:E273K	E	-	1	0	PAX4	127038865	0.027000	0.19231	0.717000	0.30585	0.337000	0.28794	0.099000	0.15210	0.302000	0.22762	0.650000	0.86243	GAG		0.607	PAX4-201	KNOWN	basic	protein_coding	protein_coding					20	105	0	0	0	0.008871	0	20	105		
PLXNA4	91584	broad.mit.edu	37	7	131853207	131853207	+	Missense_Mutation	SNP	C	C	T	rs368621356		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:131853207C>T	ENST00000359827.3	-	22	5104	c.4142G>A	c.(4141-4143)cGc>cAc	p.R1381H	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1381H			Q9HCM2	PLXA4_HUMAN	plexin A4	1381					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCCACGGTCGCGCATGGAGAA	0.582																																						uc003vra.3		NaN																	0				ovary(1)	1						c.(4141-4143)CGC>CAC		plexin A4 isoform 1		C	HIS/ARG	0,4406		0,0,2203	87.0	87.0	87.0		4142	5.5	1.0	7		87	1,8599	1.2+/-3.3	0,1,4299	no	missense	PLXNA4	NM_020911.1	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1381/1895	131853207	1,13005	2203	4300	6503	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131853207C>T	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.4142G>A	7.37:g.131853207C>T	ENSP00000352882:p.Arg1381His						p.R1381H	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			22	4371	-			1381			Cytoplasmic (Potential).		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.4142G>A	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	35	5.418212	0.96092	0.0	1.16E-4	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.15834	2.39;2.39	5.49	5.49	0.81192	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.50582	0.1624	M	0.86740	2.835	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.57917	-0.7728	10	0.87932	D	0	.	19.3569	0.94418	0.0:1.0:0.0:0.0	.	1381	Q9HCM2	PLXA4_HUMAN	H	1381	ENSP00000323194:R1381H;ENSP00000352882:R1381H	ENSP00000323194:R1381H	R	-	2	0	PLXNA4	131503747	1.000000	0.71417	0.996000	0.52242	0.947000	0.59692	7.818000	0.86416	2.582000	0.87167	0.462000	0.41574	CGC		0.582	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2		NM_181775		6	43	0	0	0	0.004482	0	6	43		
EXOC4	60412	broad.mit.edu	37	7	133622721	133622721	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:133622721G>T	ENST00000253861.4	+	14	2134	c.2105G>T	c.(2104-2106)cGt>cTt	p.R702L	EXOC4_ENST00000541309.1_5'UTR|EXOC4_ENST00000545148.1_Missense_Mutation_p.R312L|EXOC4_ENST00000539845.1_Missense_Mutation_p.R601L	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	702					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GACATCCTTCGTGACGTCAGT	0.458																																						uc003vrk.2		NaN																	0				ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1)	9						c.(2104-2106)CGT>CTT		SEC8 protein isoform a							159.0	141.0	147.0					7																	133622721		2203	4300	6503	SO:0001583	missense	60412				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	g.chr7:133622721G>T	AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.2105G>T	7.37:g.133622721G>T	ENSP00000253861:p.Arg702Leu					EXOC4_uc011kpo.1_Missense_Mutation_p.R601L|EXOC4_uc003vrl.2_Missense_Mutation_p.R312L|EXOC4_uc011kpp.1_Missense_Mutation_p.R234L|EXOC4_uc011kpq.1_5'UTR	p.R702L	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN			14	2140	+		Esophageal squamous(399;0.129)	702					E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	ENST00000253861.4	37	c.2105G>T	CCDS5829.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.418184	0.62622	.	.	ENSG00000131558	ENST00000253861;ENST00000546185;ENST00000539845;ENST00000545148	.	.	.	5.74	4.85	0.62838	.	0.105878	0.64402	D	0.000006	T	0.51244	0.1663	L	0.36672	1.1	0.80722	D	1	B;B;B	0.22003	0.024;0.001;0.063	B;B;B	0.16289	0.006;0.002;0.015	T	0.44817	-0.9303	9	0.21540	T	0.41	.	14.9452	0.71026	0.0687:0.0:0.9313:0.0	.	234;312;702	B7Z689;F5GZT1;Q96A65	.;.;EXOC4_HUMAN	L	702;321;601;312	.	ENSP00000253861:R702L	R	+	2	0	EXOC4	133273261	1.000000	0.71417	0.965000	0.40720	0.891000	0.51852	9.755000	0.98912	1.557000	0.49525	0.561000	0.74099	CGT		0.458	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1		NM_021807		11	78	1	0	0.000673444	0.008291	0.000694388	11	78		
WDR91	29062	broad.mit.edu	37	7	134894412	134894412	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:134894412G>A	ENST00000354475.4	-	2	250	c.219C>T	c.(217-219)ttC>ttT	p.F73F	WDR91_ENST00000423565.1_Silent_p.F38F|WDR91_ENST00000344400.5_Silent_p.F73F|WDR91_ENST00000485942.1_5'Flank	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	73										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						CCAAGCGGCTGAAGAGCCGAC	0.493																																						uc003vsp.2		NaN																	0				breast(2)|ovary(1)|skin(1)	4						c.(217-219)TTC>TTT		WD repeat domain 91							104.0	108.0	106.0					7																	134894412		2203	4300	6503	SO:0001819	synonymous_variant	29062							g.chr7:134894412G>A	AF161534	CCDS34758.1	7q33	2013-01-09			ENSG00000105875	ENSG00000105875		"""WD repeat domain containing"""	24997	protein-coding gene	gene with protein product						11042152, 11230166	Standard	NM_014149		Approved	HSPC049	uc003vsp.2	A4D1P6	OTTHUMG00000155414	ENST00000354475.4:c.219C>T	7.37:g.134894412G>A						WDR91_uc010lmq.2_5'Flank|WDR91_uc010lmr.2_5'Flank	p.F73F	NM_014149	NP_054868	A4D1P6	WDR91_HUMAN			2	281	-			73					A6NK54|C9JMI4|Q6FI65|Q6MZQ1|Q6P4I1|Q96AE5|Q96G63|Q9H062|Q9H9B6|Q9NVG7|Q9NZY6	Silent	SNP	ENST00000354475.4	37	c.219C>T	CCDS34758.1																																																																																				0.493	WDR91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340019.1		NM_014149		46	83	0	0	0	0.01441	0	46	83		
KMT2C	58508	broad.mit.edu	37	7	151945668	151945668	+	Silent	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:151945668T>C	ENST00000262189.6	-	14	2069	c.1851A>G	c.(1849-1851)aaA>aaG	p.K617K	KMT2C_ENST00000355193.2_Silent_p.K617K	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	617					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TAGAAATCTGTTTTTCCAATT	0.308																																						uc003wla.2		NaN								N							medulloblastoma		0				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(1849-1851)AAA>AAG		myeloid/lymphoid or mixed-lineage leukemia 3							33.0	32.0	33.0					7																	151945668		2198	4290	6488	SO:0001819	synonymous_variant	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151945668T>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1851A>G	7.37:g.151945668T>C							p.K617K	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	14	2070	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	617					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	c.1851A>G	CCDS5931.1																																																																																				0.308	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3				4	29	0	0	0	0.009096	0	4	29		
ANGPT2	285	broad.mit.edu	37	8	6378704	6378704	+	Nonsense_Mutation	SNP	G	G	C	rs376528973		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:6378704G>C	ENST00000325203.5	-	4	1268	c.794C>G	c.(793-795)tCa>tGa	p.S265*	ANGPT2_ENST00000523120.1_Nonsense_Mutation_p.S265*|ANGPT2_ENST00000338312.6_Nonsense_Mutation_p.S213*|MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000415216.1_Nonsense_Mutation_p.S265*			O15123	ANGP2_HUMAN	angiopoietin 2	265					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to growth factor stimulus (GO:0071363)|germ cell development (GO:0007281)|glomerulus vasculature development (GO:0072012)|leukocyte migration (GO:0050900)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of positive chemotaxis (GO:0050928)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to radiation (GO:0009314)|signal transduction (GO:0007165)|Tie signaling pathway (GO:0048014)	cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		CTTACAGTTTGATGTGGACAT	0.353																																						uc003wqj.3		NaN																	0				upper_aerodigestive_tract(1)	1						c.(793-795)TCA>TGA		angiopoietin 2 isoform a precursor							107.0	102.0	104.0					8																	6378704		2203	4300	6503	SO:0001587	stop_gained	285				angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding	g.chr8:6378704G>C	AF004327	CCDS5958.1, CCDS47761.1	8p23	2013-02-06			ENSG00000091879	ENSG00000091879		"""Fibrinogen C domain containing"""	485	protein-coding gene	gene with protein product		601922				9545648	Standard	NM_001147		Approved	Ang2	uc003wqj.4	O15123	OTTHUMG00000090365	ENST00000325203.5:c.794C>G	8.37:g.6378704G>C	ENSP00000314897:p.Ser265*					MCPH1_uc003wqi.2_Intron|ANGPT2_uc003wqk.3_Nonsense_Mutation_p.S265*|ANGPT2_uc010lri.2_Nonsense_Mutation_p.S213*|ANGPT2_uc003wql.3_Nonsense_Mutation_p.S265*	p.S265*	NM_001147	NP_001138	O15123	ANGP2_HUMAN		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)	4	1123	-		Hepatocellular(245;0.0663)	265					A0AV38|A8K205|B7ZLM7|Q9NRR7|Q9P2Y7	Nonsense_Mutation	SNP	ENST00000325203.5	37	c.794C>G	CCDS5958.1	.	.	.	.	.	.	.	.	.	.	G	38	7.139469	0.98088	.	.	ENSG00000091879	ENST00000325203;ENST00000415216;ENST00000338312;ENST00000523120	.	.	.	5.23	5.23	0.72850	.	1.448020	0.04412	N	0.366165	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	11.4113	0.49927	0.0:0.0:0.8196:0.1804	.	.	.	.	X	265;265;213;265	.	ENSP00000314897:S265X	S	-	2	0	ANGPT2	6366112	0.957000	0.32711	0.004000	0.12327	0.539000	0.34962	3.289000	0.51747	2.446000	0.82766	0.561000	0.74099	TCA		0.353	ANGPT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206737.1		NM_001147		6	26	0	0	0	0.001984	0	6	26		
MTUS1	57509	broad.mit.edu	37	8	17612302	17612302	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:17612302C>T	ENST00000262102.6	-	2	1239	c.1015G>A	c.(1015-1017)Gag>Aag	p.E339K	MTUS1_ENST00000381869.3_Missense_Mutation_p.E339K|MTUS1_ENST00000381862.3_Missense_Mutation_p.E339K|MTUS1_ENST00000519263.1_Missense_Mutation_p.E339K	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	339					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		GACACTGTCTCTCTCAGATTT	0.423																																						uc003wxv.2		NaN																	0				ovary(1)|skin(1)	2						c.(1015-1017)GAG>AAG		mitochondrial tumor suppressor 1 isoform 1							149.0	140.0	143.0					8																	17612302		1908	4130	6038	SO:0001583	missense	57509					Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		g.chr8:17612302C>T	AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.1015G>A	8.37:g.17612302C>T	ENSP00000262102:p.Glu339Lys					MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Missense_Mutation_p.E339K|MTUS1_uc010lsz.2_Missense_Mutation_p.E339K	p.E339K	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN		Colorectal(111;0.0778)	2	1489	-			339					A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	ENST00000262102.6	37	c.1015G>A	CCDS43717.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.194961	0.38806	.	.	ENSG00000129422	ENST00000381869;ENST00000262102;ENST00000519263;ENST00000381862	T;T;T;T	0.24350	2.77;2.87;2.77;1.86	4.28	2.47	0.30058	.	0.310904	0.27189	N	0.020515	T	0.14356	0.0347	L	0.27053	0.805	0.25087	N	0.990887	B;B;B	0.30709	0.291;0.033;0.015	B;B;B	0.26202	0.067;0.027;0.018	T	0.13602	-1.0503	10	0.44086	T	0.13	-7.2964	5.8045	0.18432	0.0:0.6982:0.1974:0.1044	.	339;339;339	Q9ULD2-5;Q9ULD2-2;Q9ULD2	.;.;MTUS1_HUMAN	K	339	ENSP00000371293:E339K;ENSP00000262102:E339K;ENSP00000430167:E339K;ENSP00000371286:E339K	ENSP00000262102:E339K	E	-	1	0	MTUS1	17656582	0.988000	0.35896	1.000000	0.80357	0.908000	0.53690	0.960000	0.29253	0.761000	0.33130	-0.175000	0.13238	GAG		0.423	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1		XM_372031		28	42	0	0	0	0.004656	0	28	42		
TNFRSF10C	8794	broad.mit.edu	37	8	22972236	22972236	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:22972236C>T	ENST00000356864.3	+	3	765	c.233C>T	c.(232-234)gCt>gTt	p.A78V	TNFRSF10C_ENST00000540813.1_5'UTR|TNFRSF10C_ENST00000520607.1_3'UTR	NM_003841.3	NP_003832	O14798	TR10C_HUMAN	tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain	78					apoptotic process (GO:0006915)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		TACACCAACGCTTCCAACAAT	0.483																																						uc003xcy.2		NaN																	0					0						c.(232-234)GCT>GTT		tumor necrosis factor receptor superfamily,							205.0	176.0	186.0					8																	22972236		2203	4300	6503	SO:0001583	missense	8794				apoptosis	anchored to membrane|integral to plasma membrane	TRAIL binding|transmembrane receptor activity	g.chr8:22972236C>T	AF012536	CCDS6037.1	8p22-p21	2006-02-22			ENSG00000173535	ENSG00000173535		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11906	protein-coding gene	gene with protein product		603613				9314565, 9325248	Standard	NM_003841		Approved	DcR1, TRAILR3, LIT, TRID, CD263	uc003xcy.3	O14798	OTTHUMG00000097844	ENST00000356864.3:c.233C>T	8.37:g.22972236C>T	ENSP00000349324:p.Ala78Val					TNFRSF10C_uc011kzr.1_RNA	p.A78V	NM_003841	NP_003832	O14798	TR10C_HUMAN		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)	3	434	+		Prostate(55;0.0421)|Breast(100;0.067)	78			TNFR-Cys 2.		O14755|Q08AS6|Q6FH98|Q6UXM5	Missense_Mutation	SNP	ENST00000356864.3	37	c.233C>T	CCDS6037.1	.	.	.	.	.	.	.	.	.	.	C	4.041	0.005290	0.07866	.	.	ENSG00000173535	ENST00000356864;ENST00000544885	D	0.91011	-2.77	1.61	-1.43	0.08884	TNFR/CD27/30/40/95 cysteine-rich region (4);	1.219150	0.06035	U	0.653827	T	0.78515	0.4295	N	0.14661	0.345	0.09310	N	0.999994	B	0.29909	0.261	B	0.26614	0.071	T	0.65496	-0.6154	10	0.33940	T	0.23	.	2.5603	0.04770	0.503:0.2954:0.2017:0.0	.	78	O14798	TR10C_HUMAN	V	78	ENSP00000349324:A78V	ENSP00000349324:A78V	A	+	2	0	TNFRSF10C	23028181	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-1.056000	0.03489	-0.375000	0.07955	0.195000	0.17529	GCT		0.483	TNFRSF10C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215134.3				29	40	0	0	0	0.003755	0	29	40		
FZD3	7976	broad.mit.edu	37	8	28413267	28413267	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:28413267G>C	ENST00000240093.3	+	7	2044	c.1566G>C	c.(1564-1566)gaG>gaC	p.E522D	FZD3_ENST00000537916.1_Missense_Mutation_p.E522D	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3	522					canonical Wnt signaling pathway (GO:0060070)|cell proliferation in midbrain (GO:0033278)|commissural neuron axon guidance (GO:0071679)|establishment of planar polarity (GO:0001736)|facial nucleus development (GO:0021754)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|post-anal tail morphogenesis (GO:0036342)|vasculature development (GO:0001944)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|neuron projection membrane (GO:0032589)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		TAGTGAATGAGAGCCGACAGG	0.393																																						uc003xgx.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1564-1566)GAG>GAC		frizzled 3 precursor							99.0	98.0	98.0					8																	28413267		2203	4300	6503	SO:0001583	missense	7976				canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding	g.chr8:28413267G>C	AJ272427	CCDS6069.1	8p21	2014-06-27	2014-01-29		ENSG00000104290	ENSG00000104290		"""GPCR / Class F : Frizzled receptors"""	4041	protein-coding gene	gene with protein product		606143	"""frizzled (Drosophila) homolog 3"", ""frizzled homolog 3 (Drosophila)"", ""frizzled 3, seven transmembrane spanning receptor"", ""frizzled family receptor 3"""			10777673, 10873558	Standard	NM_145866		Approved		uc010lvb.3	Q9NPG1	OTTHUMG00000102145	ENST00000240093.3:c.1566G>C	8.37:g.28413267G>C	ENSP00000240093:p.Glu522Asp					FZD3_uc010lvb.2_Missense_Mutation_p.E522D	p.E522D	NM_017412	NP_059108	Q9NPG1	FZD3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)	7	2044	+		Ovarian(32;2.06e-05)	522			Cytoplasmic (Potential).		A8K615	Missense_Mutation	SNP	ENST00000240093.3	37	c.1566G>C	CCDS6069.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.124102	0.37533	.	.	ENSG00000104290	ENST00000537916;ENST00000240093	T;T	0.79749	-1.3;-1.3	5.41	3.63	0.41609	.	0.181412	0.50627	D	0.000120	T	0.71771	0.3379	L	0.32530	0.975	0.47584	D	0.999462	B	0.20164	0.042	B	0.24701	0.055	T	0.67059	-0.5766	10	0.72032	D	0.01	.	10.7588	0.46253	0.1536:0.0:0.8464:0.0	.	522	Q9NPG1	FZD3_HUMAN	D	522	ENSP00000437489:E522D;ENSP00000240093:E522D	ENSP00000240093:E522D	E	+	3	2	FZD3	28469186	1.000000	0.71417	1.000000	0.80357	0.499000	0.33736	2.285000	0.43487	0.651000	0.30788	0.585000	0.79938	GAG		0.393	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219986.2		NM_145866		12	45	0	0	0	0.001855	0	12	45		
HMBOX1	79618	broad.mit.edu	37	8	28827975	28827975	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:28827975T>C	ENST00000397358.3	+	4	1143	c.439T>C	c.(439-441)Tac>Cac	p.Y147H	HMBOX1_ENST00000519047.1_Missense_Mutation_p.Y147H|HMBOX1_ENST00000355231.5_Missense_Mutation_p.Y147H|HMBOX1_ENST00000524238.1_Missense_Mutation_p.Y147H|HMBOX1_ENST00000558662.1_Missense_Mutation_p.Y147H|HMBOX1_ENST00000523613.1_Missense_Mutation_p.Y147H|HMBOX1_ENST00000444075.1_Missense_Mutation_p.Y147H|HMBOX1_ENST00000287701.10_Missense_Mutation_p.Y147H|HMBOX1_ENST00000403668.2_Missense_Mutation_p.Y147H	NM_024567.3	NP_078843.2	Q6NT76	HMBX1_HUMAN	homeobox containing 1	147					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		TCAGAGGTCATACAGTTTTGA	0.403																																						uc003xhd.3		NaN																	0				ovary(1)	1						c.(439-441)TAC>CAC		homeobox containing 1							63.0	64.0	64.0					8																	28827975		2203	4300	6503	SO:0001583	missense	79618				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr8:28827975T>C	AY522342	CCDS6071.1	8p12	2013-05-23			ENSG00000147421	ENSG00000147421		"""Homeoboxes / HNF class"""	26137	protein-coding gene	gene with protein product	"""homeobox telomere-binding protein 1"""					16825764	Standard	NM_024567		Approved	HNF1LA, PBHNF, FLJ21616, HOT1	uc003xhd.4	Q6NT76	OTTHUMG00000172138	ENST00000397358.3:c.439T>C	8.37:g.28827975T>C	ENSP00000380516:p.Tyr147His					HMBOX1_uc010lvd.2_Missense_Mutation_p.Y147H|HMBOX1_uc003xhc.3_Missense_Mutation_p.Y147H|HMBOX1_uc010lve.2_RNA|HMBOX1_uc003xhe.2_Missense_Mutation_p.Y147H|HMBOX1_uc011lay.1_Missense_Mutation_p.Y147H|HMBOX1_uc003xhf.2_Missense_Mutation_p.Y135H|HMBOX1_uc003xhg.2_Missense_Mutation_p.Y135H	p.Y147H	NM_001135726	NP_001129198	Q6NT76	HMBX1_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)	3	781	+		Ovarian(32;0.0192)	147					A4K385|A8K3R8|B4DHY5|D3DSU0|Q3Y6P1|Q96GS5|Q9H701	Missense_Mutation	SNP	ENST00000397358.3	37	c.439T>C	CCDS6071.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.833650	0.91036	.	.	ENSG00000147421	ENST00000287701;ENST00000444075;ENST00000403668;ENST00000519047;ENST00000397358;ENST00000524238;ENST00000517340;ENST00000355231	D;D;D;D;D;D	0.98345	-4.88;-4.88;-4.88;-4.88;-4.88;-4.88	6.06	6.06	0.98353	Hepatocyte nuclear factor 1, N-terminal (1);Lambda repressor-like, DNA-binding (2);	0.055854	0.64402	D	0.000001	D	0.97536	0.9193	L	0.29908	0.895	0.48901	D	0.999724	D;D;D;D;D;D	0.65815	0.986;0.995;0.993;0.993;0.986;0.995	P;D;P;P;P;D	0.63283	0.814;0.913;0.858;0.858;0.855;0.913	D	0.96734	0.9541	10	0.16420	T	0.52	-6.3256	16.6245	0.84952	0.0:0.0:0.0:1.0	.	147;147;147;147;147;147	Q6NT76-5;D3DSU2;Q6NT76-2;Q6NT76-3;Q6NT76;E5RGZ2	.;.;.;.;HMBX1_HUMAN;.	H	147	ENSP00000287701:Y147H;ENSP00000401769:Y147H;ENSP00000384261:Y147H;ENSP00000430059:Y147H;ENSP00000380516:Y147H;ENSP00000430110:Y147H	ENSP00000287701:Y147H	Y	+	1	0	HMBOX1	28883894	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.579000	0.82511	2.323000	0.78572	0.528000	0.53228	TAC		0.403	HMBOX1-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255267.4		NM_024567		5	46	0	0	0	0.001168	0	5	46		
NRG1	3084	broad.mit.edu	37	8	32463142	32463142	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:32463142T>C	ENST00000405005.3	+	3	341	c.341T>C	c.(340-342)gTg>gCg	p.V114A	NRG1_ENST00000519301.1_Missense_Mutation_p.V93A|NRG1_ENST00000520407.1_Missense_Mutation_p.V329A|NRG1_ENST00000523079.1_Missense_Mutation_p.V114A|NRG1_ENST00000356819.4_Missense_Mutation_p.V114A|NRG1_ENST00000287842.3_Missense_Mutation_p.V114A|NRG1_ENST00000341377.5_Missense_Mutation_p.V114A|NRG1_ENST00000287845.5_Missense_Mutation_p.V114A|NRG1_ENST00000338921.4_Missense_Mutation_p.V114A|NRG1_ENST00000521670.1_Missense_Mutation_p.V114A			Q02297	NRG1_HUMAN	neuregulin 1	114	Ig-like C2-type.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		ATGTGCAAAGTGATCAGCAAA	0.408																																						uc003xiv.2		NaN																	0					0						c.(340-342)GTG>GCG		neuregulin 1 isoform HRG-alpha							188.0	166.0	174.0					8																	32463142		2203	4300	6503	SO:0001583	missense	3084				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr8:32463142T>C	L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.341T>C	8.37:g.32463142T>C	ENSP00000384620:p.Val114Ala					NRG1_uc003xip.2_Missense_Mutation_p.V329A|NRG1_uc003xir.2_Missense_Mutation_p.V114A|NRG1_uc010lvl.2_Missense_Mutation_p.V114A|NRG1_uc010lvm.2_Missense_Mutation_p.V114A|NRG1_uc010lvn.2_Missense_Mutation_p.V114A|NRG1_uc003xis.2_Missense_Mutation_p.V114A|NRG1_uc011lbf.1_Missense_Mutation_p.V114A|NRG1_uc010lvo.2_Missense_Mutation_p.V114A|NRG1_uc003xiu.2_Missense_Mutation_p.V114A|NRG1_uc003xiw.2_Missense_Mutation_p.V114A|NRG1_uc003xit.2_Missense_Mutation_p.V114A|NRG1_uc010lvr.2_5'UTR|NRG1_uc010lvs.2_5'UTR|NRG1_uc010lvp.2_Missense_Mutation_p.V80A|NRG1_uc010lvq.2_Missense_Mutation_p.V80A|NRG1_uc003xix.2_Missense_Mutation_p.V4A	p.V114A	NM_013964	NP_039258	Q02297	NRG1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	3	858	+		Breast(100;0.203)	114			Extracellular (Potential).|Ig-like C2-type.		A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	ENST00000405005.3	37	c.341T>C	CCDS6085.1	.	.	.	.	.	.	.	.	.	.	T	5.132	0.209942	0.09757	.	.	ENSG00000157168	ENST00000518104;ENST00000519301;ENST00000520407;ENST00000523534;ENST00000523079;ENST00000338921;ENST00000356819;ENST00000287840;ENST00000287845;ENST00000341377;ENST00000287842;ENST00000405005;ENST00000521670	T;T;T;T;T;T;T;T;T;T;T;T;T	0.60171	0.21;0.21;0.21;0.21;0.21;0.21;0.21;0.21;0.21;0.21;0.21;0.21;0.21	5.66	5.66	0.87406	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.029480	0.07658	N	0.933166	T	0.50137	0.1598	N	0.04203	-0.255	0.80722	D	1	B;B;B;B;B;B;P;B;B;B;B;B;B	0.52577	0.008;0.007;0.005;0.092;0.333;0.031;0.954;0.004;0.031;0.004;0.042;0.384;0.22	B;B;B;B;B;B;D;B;B;B;B;B;B	0.65140	0.01;0.009;0.02;0.045;0.193;0.083;0.932;0.009;0.083;0.012;0.035;0.355;0.135	T	0.42799	-0.9430	10	0.02654	T	1	-0.337	9.6997	0.40178	0.0:0.0776:0.0:0.9224	.	114;114;114;113;113;114;114;114;114;114;114;114;329	E9PHH4;F8W9E3;Q7RTW4;B0FYA9;B0FWZ3;B7Z4Z3;Q02297-4;Q02297-7;Q02297;Q02297-6;Q02297-3;Q02297-8;Q02297-9	.;.;.;.;.;.;.;.;NRG1_HUMAN;.;.;.;.	A	93;93;329;182;114;114;114;114;114;114;114;114;114	ENSP00000430053:V93A;ENSP00000429582:V93A;ENSP00000434640:V329A;ENSP00000429067:V182A;ENSP00000430120:V114A;ENSP00000343395:V114A;ENSP00000349275:V114A;ENSP00000287840:V114A;ENSP00000287845:V114A;ENSP00000340497:V114A;ENSP00000287842:V114A;ENSP00000384620:V114A;ENSP00000428828:V114A	ENSP00000287840:V114A	V	+	2	0	NRG1	32582684	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.519000	0.53458	2.137000	0.66172	0.528000	0.53228	GTG		0.408	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1				21	35	0	0	0	0.00278	0	21	35		
ADAM9	8754	broad.mit.edu	37	8	38928862	38928862	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:38928862A>G	ENST00000487273.2	+	15	1715	c.1637A>G	c.(1636-1638)aAa>aGa	p.K546R		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	546	Cys-rich.				activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)	collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			GTGAATTCTAAAGGTGACAGA	0.358																																						uc003xmr.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1636-1638)AAA>AGA		ADAM metallopeptidase domain 9 isoform 1							122.0	119.0	120.0					8																	38928862		2203	4300	6503	SO:0001583	missense	8754				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding	g.chr8:38928862A>G	U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615		"""ADAM metallopeptidase domain containing"""	216	protein-coding gene	gene with protein product	"""meltrin gamma"""	602713	"""a disintegrin and metalloproteinase domain 9 (meltrin gamma)"", ""cone rod dystrophy 9"""	CORD9		8647900, 11581183, 19409519	Standard	NR_027638		Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	ENST00000487273.2:c.1637A>G	8.37:g.38928862A>G	ENSP00000419446:p.Lys546Arg					ADAM9_uc011lcf.1_RNA|ADAM9_uc011lcg.1_RNA|ADAM9_uc010lwr.2_RNA|ADAM9_uc003xms.2_RNA	p.K546R	NM_003816	NP_003807	Q13443	ADAM9_HUMAN	LUSC - Lung squamous cell carcinoma(45;2.74e-07)		15	1715	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	546			Cys-rich.|Extracellular (Potential).		B7ZLN7|Q10718|Q8NFM6	Missense_Mutation	SNP	ENST00000487273.2	37	c.1637A>G	CCDS6112.1	.	.	.	.	.	.	.	.	.	.	A	16.43	3.122155	0.56613	.	.	ENSG00000168615	ENST00000487273	T	0.23950	1.88	5.09	5.09	0.68999	ADAM, cysteine-rich (2);	0.104247	0.64402	D	0.000004	T	0.24044	0.0582	L	0.28556	0.865	0.58432	D	0.999999	P	0.42908	0.793	P	0.46885	0.53	T	0.02015	-1.1229	10	0.08837	T	0.75	.	15.1814	0.72962	1.0:0.0:0.0:0.0	.	546	Q13443	ADAM9_HUMAN	R	546	ENSP00000419446:K546R	ENSP00000369249:K546R	K	+	2	0	ADAM9	39048019	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.678000	0.91211	2.049000	0.60858	0.528000	0.53228	AAA		0.358	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357291.2				14	17	0	0	0	0.004007	0	14	17		
GOLGA7	51125	broad.mit.edu	37	8	41355114	41355114	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:41355114C>T	ENST00000357743.4	+	2	399	c.198C>T	c.(196-198)ctC>ctT	p.L66L	GOLGA7_ENST00000518270.1_Silent_p.L66L|GOLGA7_ENST00000405786.2_Silent_p.L66L|GOLGA7_ENST00000520817.1_Silent_p.L66L	NM_001002296.1	NP_001002296.1	Q7Z5G4	GOGA7_HUMAN	golgin A7	66					Golgi to plasma membrane protein transport (GO:0043001)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|intrinsic component of Golgi membrane (GO:0031228)|palmitoyltransferase complex (GO:0002178)				breast(1)|large_intestine(1)	2	Ovarian(28;0.014)|Colorectal(14;0.0234)|Lung SC(25;0.211)	all_lung(54;0.000771)|Lung NSC(58;0.0031)|Hepatocellular(245;0.014)|Esophageal squamous(32;0.0559)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00596)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)			AGTCATATCTCGAAGGTTGTT	0.383																																						uc003xnu.2		NaN																	0				breast(1)	1						c.(196-198)CTC>CTT		golgi autoantigen, golgin subfamily a, 7							160.0	165.0	163.0					8																	41355114		2203	4300	6503	SO:0001819	synonymous_variant	51125					Golgi membrane		g.chr8:41355114C>T	AF125102	CCDS34887.1, CCDS55226.1	8p11.21	2011-10-25	2010-02-12		ENSG00000147533	ENSG00000147533			24876	protein-coding gene	gene with protein product		609453	"""golgi autoantigen, golgin subfamily a, 7"""			11042152	Standard	NM_001174124		Approved	GCP16, HSPC041, GOLGA3AP1, GOLGA7A	uc003xnu.3	Q7Z5G4	OTTHUMG00000164077	ENST00000357743.4:c.198C>T	8.37:g.41355114C>T						GOLGA7_uc003xnv.2_RNA|GOLGA7_uc003xnw.2_Silent_p.L66L	p.L66L	NM_016099	NP_057183	Q7Z5G4	GOGA7_HUMAN	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00596)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)		3	276	+	Ovarian(28;0.014)|Colorectal(14;0.0234)|Lung SC(25;0.211)	all_lung(54;0.000771)|Lung NSC(58;0.0031)|Hepatocellular(245;0.014)|Esophageal squamous(32;0.0559)	66					D3DSX9|J3KQ24|Q96EQ4|Q9P1S0|Q9Y5U7	Silent	SNP	ENST00000357743.4	37	c.198C>T	CCDS34887.1																																																																																				0.383	GOLGA7-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377142.1		NM_016099		21	112	0	0	0	0.014323	0	21	112		
POTEA	340441	broad.mit.edu	37	8	43152200	43152200	+	RNA	SNP	G	G	A	rs368067417		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:43152200G>A	ENST00000522175.2	+	0	339							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGGCAATTCAGAAGTAGTAAG	0.408																																						uc003xpz.1		NaN																	0				ovary(1)	1						c.(337-339)GAA>AAA		POTE ankyrin domain family, member A isoform 2		G	LYS/GLU,LYS/GLU	1,4319		0,1,2159	112.0	110.0	111.0		337,337	1.8	0.0	8		111	0,8560		0,0,4280	no	missense,missense	POTEA	NM_001002920.1,NM_001005365.2	56,56	0,1,6439	AA,AG,GG		0.0,0.0231,0.0078	benign,benign	113/453,113/499	43152200	1,12879	2160	4280	6440			340441							g.chr8:43152200G>A	AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33893	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 3"""	608915	"""ANKRD26-like family A, member 1"""	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43152200G>A						POTEA_uc003xqa.1_Missense_Mutation_p.E113K	p.E113K	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN			2	380	+			113			ANK 1.		A6ND17|A6ND71|Q6S8J6	Missense_Mutation	SNP	ENST00000522175.2	37	c.337G>A																																																																																					0.408	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1		NM_001002920		14	74	0	0	0	0.001855	0	14	74		
NPBWR1	2831	broad.mit.edu	37	8	53853103	53853103	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:53853103C>T	ENST00000331251.3	+	1	2113	c.636C>T	c.(634-636)ttC>ttT	p.F212F		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	212					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)|regulation of metabolic process (GO:0019222)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				TGCTGGGCTTCGCCATCCCCG	0.682																																						uc011ldu.1		NaN																	0				ovary(2)|breast(1)	3						c.(634-636)TTC>TTT		G protein-coupled receptor 7							18.0	13.0	15.0					8																	53853103		2177	4245	6422	SO:0001819	synonymous_variant	2831				synaptic transmission	plasma membrane	opioid receptor activity|protein binding	g.chr8:53853103C>T	BC033145	CCDS6151.1	8p22-q21.13	2012-08-08	2006-02-15	2006-02-15		ENSG00000183729		"""GPCR / Class A : Neuropeptide receptors : W/B"""	4522	protein-coding gene	gene with protein product		600730	"""G protein-coupled receptor 7"""	GPR7		7590751, 12401809	Standard	NM_005285		Approved		uc011ldu.2	P48145		ENST00000331251.3:c.636C>T	8.37:g.53853103C>T							p.F212F	NM_005285	NP_005276	P48145	NPBW1_HUMAN			1	636	+		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)	212			Helical; Name=5; (Potential).		Q6NTC7	Silent	SNP	ENST00000331251.3	37	c.636C>T	CCDS6151.1																																																																																				0.682	NPBWR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378047.1		NM_005285		7	10	0	0	0	0.001984	0	7	10		
SDR16C5	195814	broad.mit.edu	37	8	57228775	57228775	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:57228775G>A	ENST00000303749.3	-	2	769	c.132C>T	c.(130-132)ctC>ctT	p.L44L	SDR16C5_ENST00000396721.2_Silent_p.L44L|SDR16C5_ENST00000522671.1_Silent_p.L44L	NM_138969.2	NP_620419.2	Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	44					detection of light stimulus involved in visual perception (GO:0050908)|keratinocyte proliferation (GO:0043616)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	retinol dehydrogenase activity (GO:0004745)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						CACCTGTGATGAGGACTATTT	0.468																																						uc003xsy.1		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(130-132)CTC>CTT		epidermal retinal dehydrogenase 2							91.0	83.0	85.0					8																	57228775		2203	4300	6503	SO:0001819	synonymous_variant	195814				detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity	g.chr8:57228775G>A		CCDS6167.1	8q12.1	2011-09-20			ENSG00000170786	ENSG00000170786	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	30311	protein-coding gene	gene with protein product		608989				12372410	Standard	NM_138969		Approved	RDHE2, RDH-E2	uc003xsy.1	Q8N3Y7	OTTHUMG00000164311	ENST00000303749.3:c.132C>T	8.37:g.57228775G>A						SDR16C5_uc010lyk.1_Silent_p.L44L|SDR16C5_uc010lyl.1_Silent_p.L44L	p.L44L	NM_138969	NP_620419	Q8N3Y7	RDHE2_HUMAN			2	770	-			44			NAD or NADP (By similarity).		B4DGK2|Q330K3|Q8TDV9|Q96LX1	Silent	SNP	ENST00000303749.3	37	c.132C>T	CCDS6167.1																																																																																				0.468	SDR16C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378235.1		NM_138969		7	41	0	0	0	0.001984	0	7	41		
CHD7	55636	broad.mit.edu	37	8	61655515	61655515	+	Silent	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:61655515T>C	ENST00000423902.2	+	2	2003	c.1524T>C	c.(1522-1524)ttT>ttC	p.F508F	CHD7_ENST00000524602.1_Silent_p.F508F|CHD7_ENST00000525508.1_Silent_p.F508F	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	508	Pro-rich.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AGCCATCTTTTCAGCAGTTGC	0.572																																						uc003xue.2		NaN																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9						c.(1522-1524)TTT>TTC		chromodomain helicase DNA binding protein 7							66.0	79.0	75.0					8																	61655515		2137	4241	6378	SO:0001819	synonymous_variant	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61655515T>C	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.1524T>C	8.37:g.61655515T>C							p.F508F	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		2	2001	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	508			Pro-rich.		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent	SNP	ENST00000423902.2	37	c.1524T>C	CCDS47865.1																																																																																				0.572	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2		XM_098762		3	17	0	0	0	0.009096	0	3	17		
CHD7	55636	broad.mit.edu	37	8	61693742	61693742	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:61693742A>G	ENST00000423902.2	+	3	2328	c.1849A>G	c.(1849-1851)Aaa>Gaa	p.K617E	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Missense_Mutation_p.K617E	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	617	Lys-rich.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.556_871dup(1)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AGGTTTTGGTAAAGATGACTT	0.393																																						uc003xue.2		NaN																	1	Insertion - In frame(1)	p.556_871dup(1)	lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9						c.(1849-1851)AAA>GAA		chromodomain helicase DNA binding protein 7							49.0	50.0	50.0					8																	61693742		1863	4089	5952	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61693742A>G	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.1849A>G	8.37:g.61693742A>G	ENSP00000392028:p.Lys617Glu						p.K617E	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		3	2326	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	617			Lys-rich.		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.1849A>G	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	A	3.722	-0.057321	0.07317	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000525508	T;T	0.81415	-1.49;-1.09	5.23	2.63	0.31362	.	0.000000	0.49305	D	0.000155	T	0.61362	0.2341	N	0.19112	0.55	0.23869	N	0.996611	B	0.25486	0.127	B	0.21360	0.034	T	0.44034	-0.9354	10	0.02654	T	1	-15.7467	11.9243	0.52810	0.5975:0.4024:0.0:0.0	.	617	Q9P2D1	CHD7_HUMAN	E	617	ENSP00000392028:K617E;ENSP00000436027:K617E	ENSP00000307304:K617E	K	+	1	0	CHD7	61856296	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.316000	0.43761	0.918000	0.36919	-0.321000	0.08615	AAA		0.393	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2		XM_098762		9	7	0	0	0	0.006214	0	9	7		
ARMC1	55156	broad.mit.edu	37	8	66517678	66517678	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:66517678G>A	ENST00000276569.3	-	5	805	c.561C>T	c.(559-561)atC>atT	p.I187I	ARMC1_ENST00000458464.2_Silent_p.I85I	NM_018120.4	NP_060590.1	Q9NVT9	ARMC1_HUMAN	armadillo repeat containing 1	187					metal ion transport (GO:0030001)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			AATCTGAACGGATTCGCACCA	0.333																																						uc003xvl.2		NaN																	0				skin(1)	1						c.(559-561)ATC>ATT		armadillo repeat-containing protein							72.0	72.0	72.0					8																	66517678		2203	4300	6503	SO:0001819	synonymous_variant	55156				metal ion transport		metal ion binding	g.chr8:66517678G>A	BC011607	CCDS6181.1, CCDS69490.1	8q12.3	2013-02-14			ENSG00000104442	ENSG00000104442		"""Armadillo repeat containing"""	17684	protein-coding gene	gene with protein product							Standard	XM_005251264		Approved	FLJ10511, Arcp	uc003xvl.3	Q9NVT9	OTTHUMG00000164374	ENST00000276569.3:c.561C>T	8.37:g.66517678G>A						ARMC1_uc011leo.1_Silent_p.I85I	p.I187I	NM_018120	NP_060590	Q9NVT9	ARMC1_HUMAN	Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)		5	796	-			187					B4E2W7|Q9H018|Q9H820	Silent	SNP	ENST00000276569.3	37	c.561C>T	CCDS6181.1																																																																																				0.333	ARMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378480.1		NM_018120		23	33	0	0	0	0.00632	0	23	33		
PREX2	80243	broad.mit.edu	37	8	69104737	69104737	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:69104737C>T	ENST00000288368.4	+	37	4858	c.4581C>T	c.(4579-4581)atC>atT	p.I1527I		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1527					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GCCACATCATCATGTGCAGCA	0.522																																						uc003xxv.1		NaN																	0				skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						c.(4579-4581)ATC>ATT		DEP domain containing 2 isoform a							53.0	45.0	48.0					8																	69104737		2203	4300	6503	SO:0001819	synonymous_variant	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:69104737C>T	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.4581C>T	8.37:g.69104737C>T							p.I1527I	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN			37	4608	+			1527					B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Silent	SNP	ENST00000288368.4	37	c.4581C>T	CCDS6201.1																																																																																				0.522	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1		NM_025170		20	15	0	0	0	0.008361	0	20	15		
TRPA1	8989	broad.mit.edu	37	8	72977734	72977734	+	Silent	SNP	A	A	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:72977734A>T	ENST00000262209.4	-	4	711	c.504T>A	c.(502-504)gcT>gcA	p.A168A		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	168					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CAATGATCACAGCTGTGTTTC	0.333																																						uc003xza.2		NaN																	0				ovary(4)|lung(1)|kidney(1)	6						c.(502-504)GCT>GCA		ankyrin-like protein 1	Menthol(DB00825)						124.0	107.0	113.0					8																	72977734		2201	4299	6500	SO:0001819	synonymous_variant	8989					integral to plasma membrane		g.chr8:72977734A>T	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.504T>A	8.37:g.72977734A>T							p.A168A	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		4	679	-			168			Cytoplasmic (Potential).|ANK 4.		A6NIN6	Silent	SNP	ENST00000262209.4	37	c.504T>A	CCDS34908.1																																																																																				0.333	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2		NM_007332		5	32	0	0	0	0.000602	0	5	32		
RDH10	157506	broad.mit.edu	37	8	74233221	74233221	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:74233221G>A	ENST00000240285.5	+	4	1357	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	RP11-434I12.2_ENST00000517475.1_RNA|RDH10_ENST00000519380.1_Missense_Mutation_p.E62K|RP11-434I12.2_ENST00000514599.1_RNA	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10 (all-trans)	227					bud elongation involved in lung branching (GO:0060449)|ear development (GO:0043583)|embryonic camera-type eye development (GO:0031076)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|gonad development (GO:0008406)|in utero embryonic development (GO:0001701)|metanephros development (GO:0001656)|neural crest cell development (GO:0014032)|nose development (GO:0043584)|phototransduction, visible light (GO:0007603)|primary lung bud formation (GO:0060431)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	cell body (GO:0044297)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			CCTGAGCCATGAACTAAAGGC	0.443																																						uc003xzi.2		NaN																	0					0						c.(679-681)GAA>AAA		retinol dehydrogenase 10							140.0	133.0	135.0					8																	74233221		2203	4300	6503	SO:0001583	missense	157506				retinal metabolic process|retinol metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|microsome	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity	g.chr8:74233221G>A	AF456765	CCDS6213.1	8q21.11	2011-09-20			ENSG00000121039	ENSG00000121039	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	19975	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 16C, member 4"""	607599				12407145, 19027726	Standard	NM_172037		Approved	SDR16C4	uc003xzi.3	Q8IZV5	OTTHUMG00000164492	ENST00000240285.5:c.679G>A	8.37:g.74233221G>A	ENSP00000240285:p.Glu227Lys					RDH10_uc003xzj.2_Missense_Mutation_p.E62K|uc003xzk.1_Intron	p.E227K	NM_172037	NP_742034	Q8IZV5	RDH10_HUMAN	Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)		4	939	+	Breast(64;0.0954)		227						Missense_Mutation	SNP	ENST00000240285.5	37	c.679G>A	CCDS6213.1	.	.	.	.	.	.	.	.	.	.	G	36	5.783850	0.96937	.	.	ENSG00000121039	ENST00000240285;ENST00000521928;ENST00000519380	D;D;T	0.93019	-3.15;-3.15;0.09	5.43	5.43	0.79202	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.98099	0.9373	H	0.97315	3.98	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	D	0.98945	1.0792	10	0.87932	D	0	.	19.4356	0.94792	0.0:0.0:1.0:0.0	.	227	Q8IZV5	RDH10_HUMAN	K	227;62;62	ENSP00000240285:E227K;ENSP00000429727:E62K;ENSP00000428132:E62K	ENSP00000240285:E227K	E	+	1	0	RDH10	74395775	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.657000	0.98554	2.826000	0.97356	0.655000	0.94253	GAA		0.443	RDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378982.1				31	49	0	0	0	0.013726	0	31	49		
SLC7A13	157724	broad.mit.edu	37	8	87241991	87241991	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:87241991G>A	ENST00000297524.3	-	1	619	c.516C>T	c.(514-516)agC>agT	p.S172S	SLC7A13_ENST00000419776.2_Silent_p.S172S|SLC7A13_ENST00000520624.1_Intron	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	172						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)	p.S172S(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						GGGAAATGAAGCTAAGTATGG	0.423																																						uc003ydq.1		NaN																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(514-516)AGC>AGT		solute carrier family 7, (cationic amino acid							142.0	125.0	131.0					8																	87241991		2203	4300	6503	SO:0001819	synonymous_variant	157724					integral to membrane	amino acid transmembrane transporter activity	g.chr8:87241991G>A	AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"""Solute carriers"""	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.516C>T	8.37:g.87241991G>A						SLC7A13_uc003ydr.1_Silent_p.S172S	p.S172S	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN			1	614	-			172			Helical; Name=5; (Potential).		Q05C37|Q08AH9|Q96N84	Silent	SNP	ENST00000297524.3	37	c.516C>T	CCDS34917.1																																																																																				0.423	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1		NM_138817		30	35	0	0	0	0.013726	0	30	35		
WWP1	11059	broad.mit.edu	37	8	87442959	87442959	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:87442959G>T	ENST00000517970.1	+	12	1673	c.1366G>T	c.(1366-1368)Gga>Tga	p.G456*	WWP1_ENST00000341922.2_Nonsense_Mutation_p.G326*|WWP1_ENST00000349423.2_Nonsense_Mutation_p.G238*|WWP1_ENST00000265428.4_Nonsense_Mutation_p.G456*	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	456	WW 3. {ECO:0000255|PROSITE- ProRule:PRU00224}.				central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						TGACCCTTATGGACCTTTGCC	0.313																																						uc003ydt.2		NaN																	0				lung(1)|liver(1)	2						c.(1366-1368)GGA>TGA		WW domain containing E3 ubiquitin protein ligase							74.0	73.0	74.0					8																	87442959		2203	4300	6503	SO:0001587	stop_gained	11059				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr8:87442959G>T	AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.1366G>T	8.37:g.87442959G>T	ENSP00000427793:p.Gly456*					WWP1_uc010mai.2_Nonsense_Mutation_p.G232*	p.G456*	NM_007013	NP_008944	Q9H0M0	WWP1_HUMAN			12	1646	+			456			WW 3.		O00307|Q5YLC1|Q96BP4	Nonsense_Mutation	SNP	ENST00000517970.1	37	c.1366G>T	CCDS6242.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.843164	0.91197	.	.	ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000349423	.	.	.	5.46	5.46	0.80206	.	0.060074	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.6664	0.95894	0.0:0.0:1.0:0.0	.	.	.	.	X	456;456;326;238	.	ENSP00000265428:G456X	G	+	1	0	WWP1	87512075	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.754000	0.98908	2.713000	0.92767	0.544000	0.68410	GGA		0.313	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1		NM_007013		11	50	1	0	4.3838e-07	0.001855	4.59712e-07	11	50		
RBM12B	389677	broad.mit.edu	37	8	94747139	94747139	+	Missense_Mutation	SNP	C	C	G	rs576822517	byFrequency	TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:94747139C>G	ENST00000399300.2	-	3	1713	c.1500G>C	c.(1498-1500)caG>caC	p.Q500H	RBM12B_ENST00000517700.1_Missense_Mutation_p.Q500H|RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	500							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			GCTCACGTGACTGTGAGCGAG	0.408																																						uc003yfz.2		NaN																	0					0						c.(1498-1500)CAG>CAC		RNA binding motif protein 12B							116.0	113.0	114.0					8																	94747139		1850	4084	5934	SO:0001583	missense	389677						nucleotide binding|RNA binding	g.chr8:94747139C>G		CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.1500G>C	8.37:g.94747139C>G	ENSP00000382239:p.Gln500His						p.Q500H	NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		3	1693	-	Breast(36;4.14e-07)		500					A8MYB5	Missense_Mutation	SNP	ENST00000399300.2	37	c.1500G>C	CCDS43755.1	.	.	.	.	.	.	.	.	.	.	C	2.255	-0.370557	0.05069	.	.	ENSG00000183808	ENST00000399300;ENST00000517700	T;T	0.08546	3.08;3.09	5.64	5.64	0.86602	.	0.411149	0.23353	N	0.049115	T	0.05868	0.0153	N	0.14661	0.345	0.09310	N	0.99999	B	0.09022	0.002	B	0.06405	0.002	T	0.34850	-0.9812	10	0.29301	T	0.29	-7.6479	12.8525	0.57864	0.2029:0.7971:0.0:0.0	.	500	Q8IXT5	RB12B_HUMAN	H	500	ENSP00000382239:Q500H;ENSP00000427729:Q500H	ENSP00000382239:Q500H	Q	-	3	2	RBM12B	94816315	0.855000	0.29742	0.589000	0.28718	0.037000	0.13140	0.697000	0.25556	2.807000	0.96579	0.591000	0.81541	CAG		0.408	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1		NM_203390		23	88	0	0	0	0.012319	0	23	88		
RGS22	26166	broad.mit.edu	37	8	101083755	101083755	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:101083755A>G	ENST00000360863.6	-	6	630	c.436T>C	c.(436-438)Ttg>Ctg	p.L146L	RGS22_ENST00000523287.1_Intron|RGS22_ENST00000523437.1_Silent_p.L146L	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	146					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TGTGAGACCAATTTGGCTAAC	0.368																																						uc003yjb.1		NaN																	0				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7						c.(436-438)TTG>CTG		regulator of G-protein signaling 22							113.0	99.0	103.0					8																	101083755		1834	4090	5924	SO:0001819	synonymous_variant	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:101083755A>G	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.436T>C	8.37:g.101083755A>G						RGS22_uc003yja.1_Intron|RGS22_uc003yjc.1_Silent_p.L146L|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA	p.L146L	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		6	631	-			146					A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Silent	SNP	ENST00000360863.6	37	c.436T>C	CCDS43758.1																																																																																				0.368	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1		NM_015668		19	24	0	0	0	0.014323	0	19	24		
CSMD3	114788	broad.mit.edu	37	8	113308174	113308174	+	Silent	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:113308174T>C	ENST00000297405.5	-	54	8746	c.8502A>G	c.(8500-8502)ggA>ggG	p.G2834G	CSMD3_ENST00000352409.3_Silent_p.G2764G|CSMD3_ENST00000343508.3_Silent_p.G2794G|CSMD3_ENST00000455883.2_Silent_p.G2665G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2834	Sushi 18. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGTCTCTATATCCATAATTTT	0.363										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NaN																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(8500-8502)GGA>GGG		CUB and Sushi multiple domains 3 isoform 1							100.0	92.0	95.0					8																	113308174		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113308174T>C	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.8502A>G	8.37:g.113308174T>C		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Silent_p.G2036G|CSMD3_uc003ynt.2_Silent_p.G2794G|CSMD3_uc011lhx.1_Silent_p.G2665G	p.G2834G	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			54	8661	-			2834			Extracellular (Potential).|Sushi 18.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.8502A>G	CCDS6315.1																																																																																				0.363	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1		NM_052900		9	45	0	0	0	0.010729	0	9	45		
TRPS1	7227	broad.mit.edu	37	8	116616147	116616147	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:116616147T>A	ENST00000220888.5	-	3	2169	c.2010A>T	c.(2008-2010)aaA>aaT	p.K670N	TRPS1_ENST00000395715.3_Missense_Mutation_p.K683N|TRPS1_ENST00000520276.1_Missense_Mutation_p.K674N|TRPS1_ENST00000519076.1_Missense_Mutation_p.K424N|TRPS1_ENST00000519674.1_Missense_Mutation_p.K670N			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	670	Mediates interaction with GLI3.				chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TAAAATCACATTTGGTACATG	0.443									Langer-Giedion syndrome																													uc003ynz.2		NaN																	0				ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7						c.(2008-2010)AAA>AAT		zinc finger transcription factor TRPS1							101.0	94.0	96.0					8																	116616147		1933	4117	6050	SO:0001583	missense	7227	Langer-Giedion_syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116616147T>A	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.2010A>T	8.37:g.116616147T>A	ENSP00000220888:p.Lys670Asn					TRPS1_uc011lhy.1_Missense_Mutation_p.K674N|TRPS1_uc003yny.2_Missense_Mutation_p.K683N|TRPS1_uc010mcy.2_Missense_Mutation_p.K670N	p.K670N	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		3	2469	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		670			Mediates interaction with GLI3.|C2H2-type 4.		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.2010A>T		.	.	.	.	.	.	.	.	.	.	T	16.62	3.172874	0.57584	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	T;T;T;T;T	0.13420	2.59;2.59;2.59;2.59;2.59	5.65	3.26	0.37387	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.22859	0.0552	L	0.29908	0.895	0.45046	D	0.998065	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.994;0.997	T	0.01371	-1.1372	10	0.87932	D	0	-8.2727	9.9562	0.41668	0.0:0.1381:0.0:0.8619	.	674;670;683	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	N	683;670;424;674;670	ENSP00000379065:K683N;ENSP00000220888:K670N;ENSP00000428910:K424N;ENSP00000428680:K674N;ENSP00000429174:K670N	ENSP00000220888:K670N	K	-	3	2	TRPS1	116685322	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.252000	0.43196	1.064000	0.40671	0.460000	0.39030	AAA		0.443	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3		NM_014112		27	27	0	0	0	0.008361	0	27	27		
FER1L6	654463	broad.mit.edu	37	8	124975540	124975540	+	Silent	SNP	A	A	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:124975540A>C	ENST00000522917.1	+	3	305	c.99A>C	c.(97-99)gcA>gcC	p.A33A	FER1L6_ENST00000399018.1_Silent_p.A33A	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	33						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ACACTGAAGCACTGCAGGAGG	0.493																																						uc003yqw.2		NaN																	0				ovary(5)|skin(5)|central_nervous_system(1)	11						c.(97-99)GCA>GCC		fer-1-like 6							161.0	156.0	158.0					8																	124975540		1972	4153	6125	SO:0001819	synonymous_variant	654463					integral to membrane		g.chr8:124975540A>C	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.99A>C	8.37:g.124975540A>C							p.A33A	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		3	305	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		33			Cytoplasmic (Potential).			Silent	SNP	ENST00000522917.1	37	c.99A>C	CCDS43767.1																																																																																				0.493	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1		NM_001039112		19	99	0	0	0	0.008871	0	19	99		
TRMT12	55039	broad.mit.edu	37	8	125463982	125463982	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:125463982G>T	ENST00000328599.3	+	1	935	c.814G>T	c.(814-816)Gtt>Ttt	p.V272F	TRMT12_ENST00000521443.1_Intron	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	tRNA methyltransferase 12 homolog (S. cerevisiae)	272					tRNA processing (GO:0008033)		transferase activity (GO:0016740)			breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CCATGCTGTAGTTGCTCTGAG	0.438																																						uc003yra.3		NaN																	0				upper_aerodigestive_tract(1)	1						c.(814-816)GTT>TTT		homolog of yeast tRNA methyltransferase 12							158.0	155.0	156.0					8																	125463982		2203	4300	6503	SO:0001583	missense	55039				tRNA processing		methyltransferase activity	g.chr8:125463982G>T	AF313041	CCDS6349.1	8q24.13	2011-05-09	2006-11-16		ENSG00000183665	ENSG00000183665			26091	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 2"""	611244	"""tRNA methyltranferase 12 homolog (S. cerevisiae)"""			16005430, 17150819	Standard	NM_017956		Approved	FLJ20772, Trm12, TYW2	uc003yra.4	Q53H54	OTTHUMG00000165022	ENST00000328599.3:c.814G>T	8.37:g.125463982G>T	ENSP00000329858:p.Val272Phe						p.V272F	NM_017956	NP_060426	Q53H54	TYW2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		1	935	+	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		272					Q6PKB9|Q96F21|Q9NWK6	Missense_Mutation	SNP	ENST00000328599.3	37	c.814G>T	CCDS6349.1	.	.	.	.	.	.	.	.	.	.	G	7.839	0.721555	0.15372	.	.	ENSG00000183665	ENST00000328599	T	0.21932	1.98	5.55	3.75	0.43078	.	1.068140	0.07118	N	0.843375	T	0.19208	0.0461	N	0.24115	0.695	0.09310	N	1	B	0.24823	0.112	B	0.36335	0.222	T	0.42085	-0.9472	10	0.49607	T	0.09	-2.096	6.1936	0.20538	0.1635:0.1549:0.6816:0.0	.	272	Q53H54	TYW2_HUMAN	F	272	ENSP00000329858:V272F	ENSP00000329858:V272F	V	+	1	0	TRMT12	125533163	0.128000	0.22383	0.057000	0.19452	0.417000	0.31264	2.804000	0.47931	0.818000	0.34468	0.655000	0.94253	GTT		0.438	TRMT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381465.1		NM_017956		19	130	1	0	8.28177e-16	0.007413	8.92361e-16	19	130		
FAM84B	157638	broad.mit.edu	37	8	127569332	127569332	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:127569332C>T	ENST00000304916.3	-	2	758	c.303G>A	c.(301-303)tcG>tcA	p.S101S	RP11-103H7.5_ENST00000524320.1_RNA|RP11-89K10.1_ENST00000520512.1_RNA|FAM84B_ENST00000517458.1_5'Flank|RP11-89K10.1_ENST00000517773.1_RNA|RP11-89K10.1_ENST00000519880.1_RNA	NM_174911.4	NP_777571.1	Q96KN1	FA84B_HUMAN	family with sequence similarity 84, member B	101						cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)			TCAGCGCCGCCGAGCCCGGCG	0.657																																						uc003yrz.1		NaN																	0					0						c.(301-303)TCG>TCA		family with sequence similarity 84, member B							23.0	25.0	24.0					8																	127569332		2198	4275	6473	SO:0001819	synonymous_variant	157638					cytoplasm|plasma membrane	protein binding	g.chr8:127569332C>T	AJ417849	CCDS6358.1	8q24.13	2006-02-09				ENSG00000168672			24166	protein-coding gene	gene with protein product	"""breast cancer membrane-associated protein 101"", ""neurological/sensory 2"""	609483				12477722	Standard	NM_174911		Approved	BCMP101, NSE2	uc003yrz.2	Q96KN1		ENST00000304916.3:c.303G>A	8.37:g.127569332C>T							p.S101S	NM_174911	NP_777571	Q96KN1	FA84B_HUMAN	STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)		2	587	-	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		101						Silent	SNP	ENST00000304916.3	37	c.303G>A	CCDS6358.1																																																																																				0.657	FAM84B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381487.1		NM_174911		5	35	0	0	0	0.000602	0	5	35		
PHF20L1	51105	broad.mit.edu	37	8	133816268	133816268	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:133816268G>A	ENST00000395386.2	+	7	1011	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395390.2_Missense_Mutation_p.E212K|PHF20L1_ENST00000337920.4_Missense_Mutation_p.E212K|PHF20L1_ENST00000395376.1_Missense_Mutation_p.E242K|PHF20L1_ENST00000395379.1_Missense_Mutation_p.E238K	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	238							zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TACATCTAGTGAAACATTTGG	0.368																																						uc003ytt.2		NaN																	0				ovary(2)	2						c.(712-714)GAA>AAA		PHD finger protein 20-like 1 isoform 1							88.0	74.0	78.0					8																	133816268		2203	4299	6502	SO:0001583	missense	51105						nucleic acid binding|zinc ion binding	g.chr8:133816268G>A	AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.712G>A	8.37:g.133816268G>A	ENSP00000378784:p.Glu238Lys					PHF20L1_uc003ytr.2_Missense_Mutation_p.E212K|PHF20L1_uc010mdv.2_Missense_Mutation_p.E212K|PHF20L1_uc003yts.2_Missense_Mutation_p.E238K|PHF20L1_uc011lja.1_Missense_Mutation_p.E212K|PHF20L1_uc003ytu.1_RNA|PHF20L1_uc003ytv.2_Missense_Mutation_p.E77K	p.E238K	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		7	1037	+	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		238					A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	ENST00000395386.2	37	c.712G>A	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	G	16.65	3.182117	0.57800	.	.	ENSG00000129292	ENST00000395383;ENST00000395379;ENST00000361997;ENST00000395386;ENST00000315808;ENST00000337920;ENST00000395376;ENST00000395382;ENST00000395390;ENST00000395374	T;T;T;T;T;T;T;T	0.54071	0.61;0.66;0.66;1.27;0.59;0.7;0.67;1.35	5.44	5.44	0.79542	.	0.874000	0.10528	N	0.664172	T	0.49081	0.1536	N	0.24115	0.695	0.80722	D	1	B;P;P;P;B	0.50943	0.417;0.94;0.841;0.798;0.167	B;P;P;B;B	0.49708	0.167;0.62;0.509;0.384;0.079	T	0.33904	-0.9850	10	0.45353	T	0.12	-6.263	11.6832	0.51470	0.0803:0.0:0.9197:0.0	.	212;77;238;238;212	F8W9L8;G5E9D0;A8MW92;A8MW92-4;A8MW92-2	.;.;P20L1_HUMAN;.;.	K	242;238;212;238;238;212;242;108;212;77	ENSP00000378781:E242K;ENSP00000378777:E238K;ENSP00000355301:E212K;ENSP00000378784:E238K;ENSP00000324519:E238K;ENSP00000338269:E212K;ENSP00000378775:E242K;ENSP00000378788:E212K	ENSP00000324519:E238K	E	+	1	0	PHF20L1	133885450	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	4.270000	0.58896	2.563000	0.86464	0.585000	0.79938	GAA		0.368	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3		NM_016018		4	23	0	0	0	0.009096	0	4	23		
DENND3	22898	broad.mit.edu	37	8	142175310	142175310	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:142175310C>G	ENST00000262585.2	+	11	1513	c.1235C>G	c.(1234-1236)tCt>tGt	p.S412C	DENND3_ENST00000519811.1_Missense_Mutation_p.S492C|DENND3_ENST00000424248.1_Missense_Mutation_p.S360C	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	412	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			ATGTTCCATTCTTTTCTTAAA	0.557																																						uc003yvy.2		NaN																	0				ovary(1)	1						c.(1234-1236)TCT>TGT		DENN/MADD domain containing 3							165.0	163.0	164.0					8																	142175310		2203	4300	6503	SO:0001583	missense	22898							g.chr8:142175310C>G	AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"""DENN/MADD domain containing"", ""WD repeat domain containing"""	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.1235C>G	8.37:g.142175310C>G	ENSP00000262585:p.Ser412Cys					DENND3_uc010mep.2_Missense_Mutation_p.S373C|DENND3_uc003yvz.1_Missense_Mutation_p.S96C	p.S412C	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)		11	1513	+	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		412			dDENN.		B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	ENST00000262585.2	37	c.1235C>G	CCDS34947.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.9|21.9	4.221597|4.221597	0.79464|0.79464	.|.	.|.	ENSG00000105339|ENSG00000105339	ENST00000518668|ENST00000262585;ENST00000424248;ENST00000519811	.|T;T;T	.|0.46063	.|0.88;0.88;0.88	5.42|5.42	5.42|5.42	0.78866|0.78866	.|dDENN (3);	.|0.308879	.|0.38005	.|N	.|0.001852	T|T	0.61426|0.61426	0.2346|0.2346	L|L	0.53249|0.53249	1.67|1.67	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D	.|0.71674	.|0.998;0.996;0.997	.|D;P;D	.|0.69307	.|0.963;0.889;0.933	T|T	0.62756|0.62756	-0.6787|-0.6787	5|10	.|0.66056	.|D	.|0.02	-9.3683|-9.3683	19.2243|19.2243	0.93812|0.93812	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|492;360;412	.|E9PF32;A2RUS2-2;A2RUS2	.|.;.;DEND3_HUMAN	L|C	416|412;360;492	.|ENSP00000262585:S412C;ENSP00000410594:S360C;ENSP00000428714:S492C	.|ENSP00000262585:S412C	F|S	+|+	3|2	2|0	DENND3|DENND3	142244492|142244492	1.000000|1.000000	0.71417|0.71417	0.157000|0.157000	0.22605|0.22605	0.732000|0.732000	0.41865|0.41865	5.478000|5.478000	0.66806|0.66806	2.539000|2.539000	0.85634|0.85634	0.561000|0.561000	0.74099|0.74099	TTC|TCT		0.557	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_014957		51	71	0	0	0	0.01441	0	51	71		
GSDMD	79792	broad.mit.edu	37	8	144641548	144641548	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:144641548G>A	ENST00000526406.1	+	5	926	c.43G>A	c.(43-45)Gag>Aag	p.E15K	GSDMD_ENST00000533063.1_Missense_Mutation_p.E63K|GSDMD_ENST00000262580.4_Missense_Mutation_p.E15K	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	15					cellular response to extracellular stimulus (GO:0031668)			p.E15K(1)		breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						AGTGGTCCAGGAGCTGGACCA	0.632																																						uc010mfe.2		NaN																	1	Substitution - Missense(1)		lung(1)		0						c.(43-45)GAG>AAG		gasdermin D							78.0	71.0	74.0					8																	144641548		2203	4300	6503	SO:0001583	missense	79792							g.chr8:144641548G>A	AK096216	CCDS34956.1	8q24.3	2008-07-31	2008-07-31	2008-07-31		ENSG00000104518			25697	protein-coding gene	gene with protein product			"""gasdermin domain containing 1"""	GSDMDC1		15289881, 17350798	Standard	NM_024736		Approved	FLJ12150, DF5L	uc003yyg.3	P57764		ENST00000526406.1:c.43G>A	8.37:g.144641548G>A	ENSP00000433209:p.Glu15Lys					uc003yye.2_5'Flank|GSDMD_uc003yyf.2_Missense_Mutation_p.E63K|GSDMD_uc003yyi.2_Missense_Mutation_p.E15K|GSDMD_uc003yyg.2_Missense_Mutation_p.E15K|GSDMD_uc003yyh.2_Missense_Mutation_p.E15K	p.E15K	NM_024736	NP_079012	P57764	GSDMD_HUMAN			5	746	+			15					D3DWJ9|Q96Q98	Missense_Mutation	SNP	ENST00000526406.1	37	c.43G>A	CCDS34956.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.849519	0.71603	.	.	ENSG00000104518	ENST00000526406;ENST00000529854;ENST00000533348;ENST00000533063;ENST00000262580;ENST00000525721;ENST00000534018;ENST00000533888	T;T;T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3;1.3;1.3	4.88	4.88	0.63580	.	0.100095	0.43919	D	0.000504	T	0.64068	0.2565	M	0.86343	2.81	0.34626	D	0.719158	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	D;D;D;D	0.91635	0.999;0.997;0.997;0.994	T	0.77595	-0.2529	10	0.87932	D	0	-50.5482	13.3904	0.60821	0.0:0.0:1.0:0.0	.	45;15;15;63	Q6ZRV8;A8K702;P57764;G3V1A6	.;.;GSDMD_HUMAN;.	K	15;15;15;63;15;15;31;15	ENSP00000433209:E15K;ENSP00000432351:E15K;ENSP00000434386:E15K;ENSP00000433958:E63K;ENSP00000262580:E15K;ENSP00000434452:E15K;ENSP00000436684:E31K;ENSP00000437065:E15K	ENSP00000262580:E15K	E	+	1	0	GSDMD	144712691	1.000000	0.71417	0.988000	0.46212	0.235000	0.25334	4.664000	0.61540	2.528000	0.85240	0.643000	0.83706	GAG		0.632	GSDMD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382046.3		NM_024736		22	36	0	0	0	0.012319	0	22	36		
FBXL6	26233	broad.mit.edu	37	8	145580113	145580113	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:145580113G>A	ENST00000331890.5	-	7	1136	c.1072C>T	c.(1072-1074)Cta>Tta	p.L358L	FBXL6_ENST00000526524.1_5'UTR|FBXL6_ENST00000455319.2_Silent_p.L352L|SLC52A2_ENST00000540505.1_5'Flank|TMEM249_ENST00000531225.1_5'Flank|TMEM249_ENST00000398633.3_5'Flank|SLC52A2_ENST00000329994.2_5'Flank|SLC52A2_ENST00000530047.1_5'Flank|SLC52A2_ENST00000532887.1_5'Flank|SLC52A2_ENST00000526752.1_5'Flank|SLC52A2_ENST00000527078.1_5'Flank|SLC52A2_ENST00000402965.1_5'Flank	NM_012162.2	NP_036294.2	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6	358					protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)		ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|lung(3)|ovary(1)	5	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			AGCTCCTCTAGGCTAGGGAAG	0.642																																						uc003zcb.2		NaN																	0				ovary(1)|lung(1)	2						c.(1072-1074)CTA>TTA		F-box and leucine-rich repeat protein 6 isoform							48.0	50.0	49.0					8																	145580113		2203	4298	6501	SO:0001819	synonymous_variant	26233				proteolysis		ubiquitin-protein ligase activity	g.chr8:145580113G>A	AF174592	CCDS6422.1, CCDS47942.1	8q24.3	2011-06-09			ENSG00000182325	ENSG00000182325		"""F-boxes / Leucine-rich repeats"""	13603	protein-coding gene	gene with protein product		609076				10531035, 10531037	Standard	NM_012162		Approved	FBL6	uc003zcb.3	Q8N531	OTTHUMG00000165169	ENST00000331890.5:c.1072C>T	8.37:g.145580113G>A						C8ORFK29_uc011llb.1_5'Flank|C8ORFK29_uc010mfw.2_5'Flank|C8ORFK29_uc003zby.3_5'Flank|FBXL6_uc003zbz.2_Silent_p.L85L|FBXL6_uc003zca.2_Silent_p.L352L|FBXL6_uc010mfx.2_Silent_p.L119L|GPR172A_uc003zcc.1_5'Flank|GPR172A_uc003zcd.1_5'Flank|GPR172A_uc003zce.1_5'Flank|GPR172A_uc010mfy.1_5'Flank|GPR172A_uc003zcf.1_5'Flank|GPR172A_uc011llc.1_5'Flank	p.L358L	NM_012162	NP_036294	Q8N531	FBXL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)		7	1097	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		358			LRR 6.		Q53G43|Q9H5W9|Q9UKC7	Silent	SNP	ENST00000331890.5	37	c.1072C>T	CCDS6422.1																																																																																				0.642	FBXL6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382413.1		NM_024555		14	66	0	0	0	0.00245	0	14	66		
SLC52A2	79581	broad.mit.edu	37	8	145583820	145583820	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:145583820C>T	ENST00000532887.1	+	3	1251	c.668C>T	c.(667-669)tCt>tTt	p.S223F	FBXL6_ENST00000455319.2_5'Flank|SLC52A2_ENST00000540505.1_Missense_Mutation_p.S135F|SLC52A2_ENST00000329994.2_Missense_Mutation_p.S223F|SLC52A2_ENST00000530047.1_Missense_Mutation_p.S223F|SLC52A2_ENST00000526752.1_Intron|FBXL6_ENST00000331890.5_5'Flank|SLC52A2_ENST00000527078.1_Missense_Mutation_p.S223F|SLC52A2_ENST00000402965.1_Missense_Mutation_p.S223F			Q9HAB3	S52A2_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	223					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)									Gamma Hydroxybutyric Acid(DB01440)	CCACCACCATCTGTACCCACA	0.612																																						uc003zcc.1		NaN																	0					0						c.(667-669)TCT>TTT		G protein-coupled receptor 172A precursor							55.0	58.0	57.0					8																	145583820		2203	4300	6503	SO:0001583	missense	79581					integral to plasma membrane	receptor activity|riboflavin transporter activity	g.chr8:145583820C>T	AY070774	CCDS6423.1	8q24.3	2013-07-17	2013-07-17	2012-02-29		ENSG00000185803		"""Solute carriers"""	30224	protein-coding gene	gene with protein product		607882	"""G protein-coupled receptor 172A"""	GPR172A		12740431	Standard	NM_024531		Approved	FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3	uc003zcd.2	Q9HAB3		ENST00000532887.1:c.668C>T	8.37:g.145583820C>T	ENSP00000436768:p.Ser223Phe					FBXL6_uc003zbz.2_5'Flank|FBXL6_uc003zca.2_5'Flank|FBXL6_uc003zcb.2_5'Flank|FBXL6_uc010mfx.2_5'Flank|GPR172A_uc003zcd.1_Missense_Mutation_p.S223F|GPR172A_uc003zce.1_Missense_Mutation_p.S223F|GPR172A_uc010mfy.1_Missense_Mutation_p.S223F|GPR172A_uc003zcf.1_Missense_Mutation_p.S223F|GPR172A_uc011llc.1_Missense_Mutation_p.S135F	p.S223F	NM_024531	NP_078807	Q9HAB3	RFT3_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)		3	825	+	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		223					A8K6B6|D3DWL8|G1UCY1|Q86UT1	Missense_Mutation	SNP	ENST00000532887.1	37	c.668C>T	CCDS6423.1	.	.	.	.	.	.	.	.	.	.	C	8.432	0.848851	0.17034	.	.	ENSG00000185803	ENST00000530047;ENST00000527078;ENST00000526338;ENST00000402965;ENST00000532887;ENST00000329994;ENST00000540505	T;T;T;T;T;T;T	0.75367	-0.93;-0.93;-0.86;-0.93;-0.93;-0.93;-0.71	4.49	1.49	0.22878	.	0.952262	0.08745	N	0.899892	T	0.56761	0.2007	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.48559	-0.9025	10	0.54805	T	0.06	.	2.8091	0.05436	0.1732:0.5379:0.151:0.1379	.	223	Q9HAB3	RFT3_HUMAN	F	223;223;59;223;223;223;135	ENSP00000435820:S223F;ENSP00000434728:S223F;ENSP00000433583:S59F;ENSP00000385961:S223F;ENSP00000436768:S223F;ENSP00000333638:S223F;ENSP00000440400:S135F	ENSP00000333638:S223F	S	+	2	0	GPR172A	145554628	0.004000	0.15560	0.001000	0.08648	0.588000	0.36517	2.009000	0.40903	0.679000	0.31345	0.462000	0.41574	TCT		0.612	SLC52A2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382405.1		NM_024531		40	39	0	0	0	0.00874	0	40	39		
TONSL	4796	broad.mit.edu	37	8	145659460	145659460	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:145659460G>A	ENST00000409379.3	-	21	3317	c.3288C>T	c.(3286-3288)acC>acT	p.T1096T	AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	1096					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						GGCTGGGCATGGTGCCCAGGG	0.687																																						uc011llg.1		NaN																	0					0						c.(3286-3288)ACC>ACT		NF-kappa-B inhibitor-like protein 2							23.0	25.0	25.0					8																	145659460		2203	4294	6497	SO:0001819	synonymous_variant	4796				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity	g.chr8:145659460G>A		CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"""Ankyrin repeat domain containing"""	7801	protein-coding gene	gene with protein product		604546	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"""	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.3288C>T	8.37:g.145659460G>A						uc011llh.1_5'Flank	p.T1096T	NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		21	3303	-	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1096					B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Silent	SNP	ENST00000409379.3	37	c.3288C>T	CCDS34968.2																																																																																				0.687	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2		NM_013432		30	21	0	0	0	0.013726	0	30	21		
KIFC2	90990	broad.mit.edu	37	8	145698738	145698738	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:145698738C>T	ENST00000301332.2	+	17	2799	c.2422C>T	c.(2422-2424)Cgg>Tgg	p.R808W	FOXH1_ENST00000525197.1_5'Flank|KIFC2_ENST00000301331.5_3'UTR	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	808	Pro-rich.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GGCTCGGGCTCGGCTCTCGCG	0.701																																						uc003zcz.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(2422-2424)CGG>TGG		kinesin family member C2							8.0	6.0	7.0					8																	145698738		2006	4015	6021	SO:0001583	missense	90990				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr8:145698738C>T	AY007121	CCDS6427.1	8q24.3	2007-02-13			ENSG00000167702	ENSG00000167702		"""Kinesins"""	29530	protein-coding gene	gene with protein product						9115737	Standard	NM_145754		Approved		uc003zcz.3	Q96AC6	OTTHUMG00000165133	ENST00000301332.2:c.2422C>T	8.37:g.145698738C>T	ENSP00000301332:p.Arg808Trp					KIFC2_uc003zda.2_Missense_Mutation_p.R196W	p.R808W	NM_145754	NP_665697	Q96AC6	KIFC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		17	2487	+	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		808			Pro-rich.		E9PHB2|Q96NN6	Missense_Mutation	SNP	ENST00000301332.2	37	c.2422C>T	CCDS6427.1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.627618	0.28978	.	.	ENSG00000167702	ENST00000301332	T	0.73047	-0.71	3.01	0.525	0.17072	.	.	.	.	.	T	0.51517	0.1679	N	0.19112	0.55	0.09310	N	0.999996	B;B	0.09022	0.002;0.002	B;B	0.01281	0.0;0.0	T	0.44574	-0.9319	9	0.87932	D	0	0.0169	5.5158	0.16906	0.0:0.4072:0.0:0.5928	.	196;808	Q96BU4;Q96AC6	.;KIFC2_HUMAN	W	808	ENSP00000301332:R808W	ENSP00000301332:R808W	R	+	1	2	KIFC2	145669546	0.000000	0.05858	0.017000	0.16124	0.033000	0.12548	-0.770000	0.04705	0.119000	0.18210	0.484000	0.47621	CGG		0.701	KIFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382052.2		NM_145754		5	12	0	0	0	0.000602	0	5	12		
DMRT2	10655	broad.mit.edu	37	9	1057223	1057223	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr9:1057223G>C	ENST00000358146.2	+	3	1636	c.1636G>C	c.(1636-1638)Gag>Cag	p.E546Q	DMRT2_ENST00000382251.3_Missense_Mutation_p.E546Q|DMRT2_ENST00000302441.6_Missense_Mutation_p.E546Q|DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000382255.3_3'UTR			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	546					embryonic skeletal system development (GO:0048706)|positive regulation of myotome development (GO:2000287)|regulation of somitogenesis (GO:0014807)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		ATTTTCTGTTGAGTCTATTCT	0.393																																						uc003zha.2		NaN																	0					0						c.(1636-1638)GAG>CAG		doublesex and mab-3 related transcription factor							76.0	76.0	76.0					9																	1057223		2203	4300	6503	SO:0001583	missense	10655				male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:1057223G>C	AF130729	CCDS6444.1, CCDS6445.1	9p24.3	2008-07-21			ENSG00000173253	ENSG00000173253			2935	protein-coding gene	gene with protein product	"""terra-like protein"""	604935				10332030	Standard	NM_181872		Approved		uc003zha.3	Q9Y5R5	OTTHUMG00000019437	ENST00000358146.2:c.1636G>C	9.37:g.1057223G>C	ENSP00000350865:p.Glu546Gln					DMRT2_uc003zgx.3_Missense_Mutation_p.E313Q|DMRT2_uc010mgz.2_Missense_Mutation_p.E313Q|DMRT2_uc003zgy.3_Missense_Mutation_p.E390Q|DMRT2_uc003zhb.3_3'UTR|DMRT2_uc011llt.1_3'UTR|DMRT2_uc011llu.1_3'UTR|DMRT2_uc011llv.1_Missense_Mutation_p.E546Q	p.E546Q	NM_181872	NP_870987	Q9Y5R5	DMRT2_HUMAN		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)	4	1836	+		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)	546					B1ANC0|B9EGJ1|Q9NPG6|Q9NQR6	Missense_Mutation	SNP	ENST00000358146.2	37	c.1636G>C	CCDS6444.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.147841	0.78001	.	.	ENSG00000173253	ENST00000382251;ENST00000302441;ENST00000358146	T;T;T	0.38887	1.11;1.11;1.11	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.65217	0.2670	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.65043	-0.6264	10	0.87932	D	0	-25.6083	19.9656	0.97263	0.0:0.0:1.0:0.0	.	546;390	Q9Y5R5;Q5HYK2	DMRT2_HUMAN;.	Q	546	ENSP00000371686:E546Q;ENSP00000305785:E546Q;ENSP00000350865:E546Q	ENSP00000305785:E546Q	E	+	1	0	DMRT2	1047223	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.230000	0.95299	2.812000	0.96745	0.557000	0.71058	GAG		0.393	DMRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051492.1		NM_006557		22	19	0	0	0	0.00333	0	22	19		
GLIS3	169792	broad.mit.edu	37	9	3828335	3828335	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr9:3828335G>A	ENST00000324333.10	-	10	2458	c.2265C>T	c.(2263-2265)ttC>ttT	p.F755F	GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Silent_p.F910F	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	755					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		TGATCTGCAAGAAGGTAGCAT	0.542																																						uc003zhw.1		NaN																	0				ovary(1)	1						c.(2263-2265)TTC>TTT		GLIS family zinc finger 3 isoform b							64.0	62.0	62.0					9																	3828335		2203	4300	6503	SO:0001819	synonymous_variant	169792				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	g.chr9:3828335G>A	BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"""Zinc fingers, C2H2-type"""	28510	protein-coding gene	gene with protein product		610192	"""zinc finger protein 515"""	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.2265C>T	9.37:g.3828335G>A						GLIS3_uc003zhx.1_Silent_p.F910F|GLIS3_uc010mhf.1_Silent_p.F304F|GLIS3_uc003zhv.1_RNA	p.F755F	NM_152629	NP_689842	Q8NEA6	GLIS3_HUMAN		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)	10	2459	-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)	755					B1AL19|Q1PHK5	Silent	SNP	ENST00000324333.10	37	c.2265C>T	CCDS6451.1																																																																																				0.542	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1		NM_152629		10	10	0	0	0	0.006214	0	10	10		
RLN2	6019	broad.mit.edu	37	9	5304391	5304391	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr9:5304391G>A	ENST00000381627.3	-	1	578	c.190C>T	c.(190-192)Cag>Tag	p.Q64*	RLN2_ENST00000308420.3_Nonsense_Mutation_p.Q64*	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	64					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		CTAGGTGTCTGAGGAGCATCT	0.597																																						uc003zja.1		NaN																	0					0						c.(190-192)CAG>TAG		relaxin 2 isoform 1 preproprotein							22.0	22.0	22.0					9																	5304391		2202	4278	6480	SO:0001587	stop_gained	6019				female pregnancy	extracellular region	hormone activity	g.chr9:5304391G>A		CCDS6460.1	9p24.1	2013-02-26	2004-11-15		ENSG00000107014	ENSG00000107014		"""Endogenous ligands"""	10027	protein-coding gene	gene with protein product	"""relaxin H2"", ""prorelaxin H2"", ""relaxin, ovarian, of pregnancy"""	179740	"""relaxin 2 (H2)"""			6548703, 6548702	Standard	NM_134441		Approved	H2, RLXH2, bA12D24.1.1, bA12D24.1.2	uc003zja.2	P04090	OTTHUMG00000019496	ENST00000381627.3:c.190C>T	9.37:g.5304391G>A	ENSP00000371040:p.Gln64*					RLN2_uc003ziz.1_Nonsense_Mutation_p.Q64*	p.Q64*	NM_134441	NP_604390	P04090	REL2_HUMAN		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)	1	190	-	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)	64					A0AVM0|Q99936|Q9UCX3|Q9UQJ2	Nonsense_Mutation	SNP	ENST00000381627.3	37	c.190C>T	CCDS6460.1	.	.	.	.	.	.	.	.	.	.	g	16.07	3.018031	0.54576	.	.	ENSG00000107014	ENST00000381627;ENST00000308420	.	.	.	3.22	2.29	0.28610	.	6.147850	0.00397	N	0.000050	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.6707	0.28457	0.0:0.0:0.748:0.252	.	.	.	.	X	64	.	ENSP00000308018:Q64X	Q	-	1	0	RLN2	5294391	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.607000	0.24209	0.904000	0.36572	0.457000	0.33378	CAG		0.597	RLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051619.1		NM_134441		6	7	0	0	0	0.001168	0	6	7		
PSIP1	11168	broad.mit.edu	37	9	15469043	15469043	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr9:15469043C>A	ENST00000380733.4	-	13	1461	c.1118G>T	c.(1117-1119)tGc>tTc	p.C373F	PSIP1_ENST00000380738.4_Missense_Mutation_p.C373F			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	373					establishment of integrated proviral latency (GO:0075713)|mRNA 5'-splice site recognition (GO:0000395)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to heat (GO:0009408)|response to oxidative stress (GO:0006979)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription coactivator activity (GO:0001105)|supercoiled DNA binding (GO:0097100)			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		GGCCTCAATGCATCTGTTCAC	0.343																																						uc003zlv.3		NaN																	0				breast(1)	1						c.(1117-1119)TGC>TTC		PC4 and SFRS1 interacting protein 1 isoform 2							89.0	79.0	83.0					9																	15469043		2203	4300	6503	SO:0001583	missense	11168				initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity	g.chr9:15469043C>A	AF098482	CCDS6479.1, CCDS6480.1	9p22.2	2008-02-05	2004-02-24		ENSG00000164985	ENSG00000164985			9527	protein-coding gene	gene with protein product		603620	"""PC4 and SFRS1 interacting protein 2"""	PSIP2		9822615, 9885563	Standard	NM_033222		Approved	p52, LEDGF, p75	uc003zlw.4	O75475	OTTHUMG00000021021	ENST00000380733.4:c.1118G>T	9.37:g.15469043C>A	ENSP00000370109:p.Cys373Phe					PSIP1_uc003zlw.3_Missense_Mutation_p.C373F	p.C373F	NM_033222	NP_150091	O75475	PSIP1_HUMAN		GBM - Glioblastoma multiforme(50;2.38e-06)	13	1448	-			373			Potential.		D3DRI9|O00256|O95368|Q6P391|Q86YB9|Q9NZI3|Q9UER6	Missense_Mutation	SNP	ENST00000380733.4	37	c.1118G>T	CCDS6479.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.973357	0.74246	.	.	ENSG00000164985	ENST00000380733;ENST00000380738	T;T	0.71222	-0.55;-0.55	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.83959	0.5367	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84711	0.0734	10	0.87932	D	0	.	19.8753	0.96867	0.0:1.0:0.0:0.0	.	373	O75475	PSIP1_HUMAN	F	373	ENSP00000370109:C373F;ENSP00000370114:C373F	ENSP00000370109:C373F	C	-	2	0	PSIP1	15459043	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.232000	0.78116	2.766000	0.95052	0.650000	0.86243	TGC		0.343	PSIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055445.1		NM_033222		18	11	1	0	1.33834e-09	0.007413	1.419e-09	18	11		
ARID3C	138715	broad.mit.edu	37	9	34623620	34623620	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr9:34623620C>T	ENST00000378909.2	-	4	759	c.667G>A	c.(667-669)Gag>Aag	p.E223K		NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	223					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane raft (GO:0045121)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		CGACGGCCCTCGCGCCGATTG	0.701																																						uc011lon.1		NaN																	0				ovary(1)	1						c.(667-669)GAG>AAG		AT rich interactive domain 3C (BRIGHT- like)							13.0	15.0	14.0					9																	34623620		2176	4266	6442	SO:0001583	missense	138715				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:34623620C>T		CCDS35006.1	9p13.2	2013-02-07	2006-11-08		ENSG00000205143	ENSG00000205143		"""-"""	21209	protein-coding gene	gene with protein product			"""AT rich interactive domain 3C (BRIGHT- like)"""				Standard	NM_001017363		Approved		uc011lon.2	A6NKF2	OTTHUMG00000000445	ENST00000378909.2:c.667G>A	9.37:g.34623620C>T	ENSP00000368189:p.Glu223Lys						p.E223K	NM_001017363	NP_001017363	A6NKF2	ARI3C_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)	4	667	-	all_epithelial(49;0.102)		223						Missense_Mutation	SNP	ENST00000378909.2	37	c.667G>A	CCDS35006.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.339335	0.81911	.	.	ENSG00000205143	ENST00000378909	T	0.54071	0.59	4.92	4.92	0.64577	.	0.000000	0.49916	D	0.000138	T	0.51958	0.1705	M	0.78049	2.395	0.58432	D	0.999994	P	0.41393	0.748	B	0.35278	0.199	T	0.55964	-0.8057	10	0.19147	T	0.46	-16.6105	17.1262	0.86714	0.0:1.0:0.0:0.0	.	223	A6NKF2	ARI3C_HUMAN	K	223	ENSP00000368189:E223K	ENSP00000368189:E223K	E	-	1	0	ARID3C	34613620	1.000000	0.71417	0.999000	0.59377	0.934000	0.57294	7.386000	0.79775	2.293000	0.77203	0.478000	0.44815	GAG		0.701	ARID3C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348265.1		XM_071061		10	8	0	0	0	0.006214	0	10	8		
SPATA31E1	286234	broad.mit.edu	37	9	90501167	90501167	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr9:90501167C>T	ENST00000325643.5	+	4	1831	c.1765C>T	c.(1765-1767)Cag>Tag	p.Q589*		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	589					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CAAAAAGTCTCAGGCTGTTCT	0.587																																						uc004app.3		NaN																	0				ovary(3)	3						c.(1765-1767)CAG>TAG		chromosome 9 open reading frame 79							79.0	89.0	86.0					9																	90501167		2203	4300	6503	SO:0001587	stop_gained	286234					integral to membrane		g.chr9:90501167C>T	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.1765C>T	9.37:g.90501167C>T	ENSP00000322640:p.Gln589*					C9orf79_uc004apo.1_Nonsense_Mutation_p.Q401*	p.Q589*	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN			4	1800	+			589					B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Nonsense_Mutation	SNP	ENST00000325643.5	37	c.1765C>T	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	c	21.3	4.129874	0.77549	.	.	ENSG00000177992	ENST00000325643;ENST00000539327	.	.	.	2.51	0.319	0.15873	.	1.138720	0.06697	N	0.770775	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	4.4477	0.11606	0.2594:0.4865:0.254:0.0	.	.	.	.	X	589;241	.	ENSP00000322640:Q589X	Q	+	1	0	C9orf79	89690987	0.023000	0.18921	0.000000	0.03702	0.002000	0.02628	1.463000	0.35277	0.078000	0.16900	0.508000	0.49915	CAG		0.587	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2		NM_178828		54	62	0	0	0	0.01441	0	54	62		
C9orf3	84909	broad.mit.edu	37	9	97844946	97844946	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr9:97844946G>A	ENST00000375315.2	+	15	2409	c.2409G>A	c.(2407-2409)aaG>aaA	p.K803K	C9orf3_ENST00000433691.2_Silent_p.K144K|C9orf3_ENST00000425634.2_Silent_p.K165K|MIR27B_ENST00000385129.1_RNA|MIR23B_ENST00000384832.1_RNA|C9orf3_ENST00000297979.5_Silent_p.K704K	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	803					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		AGCGGACCAAGGAGCAGATGG	0.547																																						uc004ava.2		NaN																	0				ovary(1)	1						c.(2407-2409)AAG>AAA		aminopeptidase O							143.0	119.0	127.0					9																	97844946		2203	4300	6503	SO:0001819	synonymous_variant	84909				leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr9:97844946G>A	AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.2409G>A	9.37:g.97844946G>A						C9orf3_uc004auy.2_Silent_p.K704K|C9orf3_uc004avc.2_Intron|C9orf3_uc011luj.1_Silent_p.K165K|C9orf3_uc011luk.1_Silent_p.K144K|C9orf3_uc004avd.2_Silent_p.K165K|MIR23B_hsa-mir-23b|MI0000439_5'Flank|uc004avg.3_5'Flank|MIR27B_hsa-mir-27b|MI0000440_5'Flank	p.K803K	NM_032823	NP_116212	Q8N6M6	AMPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.000275)	15	2544	+			803					Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Silent	SNP	ENST00000375315.2	37	c.2409G>A	CCDS55328.1	.	.	.	.	.	.	.	.	.	.	G	0.215	-1.033548	0.02029	.	.	ENSG00000148120	ENST00000445181	.	.	.	5.33	4.44	0.53790	.	.	.	.	.	T	0.48241	0.1489	.	.	.	0.43863	D	0.996464	.	.	.	.	.	.	T	0.45716	-0.9242	4	.	.	.	-6.0662	4.1982	0.10453	0.2446:0.0:0.5875:0.1679	.	.	.	.	R	168	.	.	G	+	1	0	C9orf3	96884767	0.998000	0.40836	0.137000	0.22149	0.082000	0.17680	3.098000	0.50259	1.385000	0.46445	0.561000	0.74099	GGA		0.547	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_032823		32	26	0	0	0	0.013726	0	32	26		
TSTD2	158427	broad.mit.edu	37	9	100388271	100388271	+	Silent	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr9:100388271G>T	ENST00000341170.4	-	3	556	c.174C>A	c.(172-174)gcC>gcA	p.A58A	TSTD2_ENST00000354801.2_5'UTR	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	58										large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						TGACAAAAAGGGCAAAGGCCT	0.353																																						uc004axn.2		NaN																	0				ovary(2)	2						c.(172-174)GCC>GCA		thiosulfate sulfurtransferase (rhodanese)-like							60.0	58.0	59.0					9																	100388271		2202	4300	6502	SO:0001819	synonymous_variant	158427							g.chr9:100388271G>T	AF258575	CCDS6727.2	9q22.33	2013-09-20	2009-08-12	2009-08-12	ENSG00000136925	ENSG00000136925			30087	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 97"""	C9orf97		12477932	Standard	NM_139246		Approved	PP4189	uc004axn.3	Q5T7W7	OTTHUMG00000020328	ENST00000341170.4:c.174C>A	9.37:g.100388271G>T						TSTD2_uc004axo.2_5'UTR|TSTD2_uc004axp.1_5'UTR	p.A58A	NM_139246	NP_640339	Q5T7W7	TSTD2_HUMAN			3	662	-			58					A6NMJ4|A8K584|Q6ZQZ6|Q8IYM3|Q8WY73|Q96ML6|Q96MU1	Silent	SNP	ENST00000341170.4	37	c.174C>A	CCDS6727.2																																																																																				0.353	TSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053325.4		NM_139246		6	6	1	0	5.9392e-07	0.001168	6.22064e-07	6	6		
SVEP1	79987	broad.mit.edu	37	9	113205828	113205828	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr9:113205828G>T	ENST00000401783.2	-	27	4972	c.4636C>A	c.(4636-4638)Cct>Act	p.P1546T	SVEP1_ENST00000302728.8_Missense_Mutation_p.P1546T|SVEP1_ENST00000374469.1_Missense_Mutation_p.P1523T|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1546	Pentaxin.			P -> PGMF (in Ref. 1; CAF04067). {ECO:0000305}.	cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AACATACCAGGTATGGGCAAA	0.418																																						uc010mtz.2		NaN																	0				ovary(7)	7						c.(4636-4638)CCT>ACT		polydom							62.0	65.0	64.0					9																	113205828		1934	4136	6070	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113205828G>T	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.4636C>A	9.37:g.113205828G>T	ENSP00000384917:p.Pro1546Thr					SVEP1_uc010mua.1_Missense_Mutation_p.P1546T	p.P1546T	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			27	4973	-			1546	P -> PGMF (in Ref. 1; CAF04067).		Pentaxin.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.4636C>A	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.342461	0.81911	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728	T;T;T	0.79749	3.37;3.37;-1.3	5.37	5.37	0.77165	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.89897	0.6848	M	0.73598	2.24	0.52099	D	0.999942	D;D	0.89917	0.999;1.0	D;D	0.87578	0.984;0.998	D	0.90308	0.4335	10	0.66056	D	0.02	.	19.4584	0.94904	0.0:0.0:1.0:0.0	.	1546;1546	E9PBN8;Q4LDE5	.;SVEP1_HUMAN	T	1546;1523;1546	ENSP00000384917:P1546T;ENSP00000363593:P1523T;ENSP00000304118:P1546T	ENSP00000304118:P1546T	P	-	1	0	SVEP1	112245649	1.000000	0.71417	0.980000	0.43619	0.707000	0.40811	9.419000	0.97397	2.674000	0.91012	0.655000	0.94253	CCT		0.418	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding					7	6	1	0	0.000157383	0.00308	0.000163846	7	6		
ZFP37	7539	broad.mit.edu	37	9	115805712	115805712	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr9:115805712C>A	ENST00000374227.3	-	4	1213	c.1186G>T	c.(1186-1188)Gtg>Ttg	p.V396L	ZFP37_ENST00000555206.1_Missense_Mutation_p.V397L|ZFP37_ENST00000553380.1_Missense_Mutation_p.V411L	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	396					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TGAGATCTCACATGTTGAATA	0.413																																						uc004bgm.1		NaN																	0				ovary(1)|skin(1)	2						c.(1186-1188)GTG>TTG		zinc finger protein 37 homolog							116.0	115.0	116.0					9																	115805712		2203	4300	6503	SO:0001583	missense	7539					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:115805712C>A	AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"""Zinc fingers, C2H2-type"", ""-"""	12863	protein-coding gene	gene with protein product		602951	"""zinc finger protein homologous to Zfp37 in mouse"", ""zinc finger protein 37 homolog (mouse)"""				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.1186G>T	9.37:g.115805712C>A	ENSP00000363344:p.Val396Leu					ZFP37_uc011lwz.1_Missense_Mutation_p.V411L|ZFP37_uc011lxa.1_Missense_Mutation_p.V397L	p.V396L	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN			4	1214	-			396			C2H2-type 4.		A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Missense_Mutation	SNP	ENST00000374227.3	37	c.1186G>T	CCDS6787.1	.	.	.	.	.	.	.	.	.	.	C	5.909	0.351732	0.11182	.	.	ENSG00000136866	ENST00000374227;ENST00000555206;ENST00000553380	T;T;T	0.15017	2.46;2.46;2.46	4.28	1.37	0.22104	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.620628	0.13433	N	0.388271	T	0.07638	0.0192	N	0.05351	-0.065	0.21499	N	0.999668	B;B;B	0.11235	0.004;0.004;0.002	B;B;B	0.11329	0.006;0.006;0.006	T	0.31138	-0.9954	10	0.42905	T	0.14	-1.046	4.7844	0.13219	0.0:0.4596:0.3495:0.1909	.	397;411;396	G3V3L7;Q9Y6Q3-2;Q9Y6Q3	.;.;ZFP37_HUMAN	L	396;397;411	ENSP00000363344:V396L;ENSP00000451310:V397L;ENSP00000452552:V411L	ENSP00000363344:V396L	V	-	1	0	ZFP37	114845533	0.001000	0.12720	0.955000	0.39395	0.998000	0.95712	-0.022000	0.12480	0.318000	0.23185	0.655000	0.94253	GTG		0.413	ZFP37-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055439.1		NM_003408		47	34	1	0	5.7616e-29	0.01441	6.25504e-29	47	34		
PRPF4	9128	broad.mit.edu	37	9	116050456	116050456	+	Splice_Site	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr9:116050456G>A	ENST00000374198.4	+	10	1039	c.937G>A	c.(937-939)Gat>Aat	p.D313N	PRPF4_ENST00000374199.4_Splice_Site_p.D312N	NM_001244926.1|NM_004697.4	NP_001231855.1|NP_004688.2	O43172	PRP4_HUMAN	pre-mRNA processing factor 4	313					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 snRNP (GO:0071001)				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						CCTTTCCAGTGATGAACCAGT	0.458																																						uc004bgx.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(937-939)GAT>AAT		PRP4 pre-mRNA processing factor 4 homolog							118.0	99.0	105.0					9																	116050456		2203	4300	6503	SO:0001630	splice_region_variant	9128					Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding	g.chr9:116050456G>A	AF001687	CCDS6791.1, CCDS59142.1	9q31-q33	2013-10-03	2013-10-03		ENSG00000136875	ENSG00000136875		"""WD repeat domain containing"""	17349	protein-coding gene	gene with protein product	"""PRP4/STK/WD splicing factor"", ""U4/U6 small nuclear ribonucleoprotein Prp4"""	607795	"""PRP4 pre-mRNA processing factor 4 homolog (yeast)"""			9257651, 9404889	Standard	NM_004697		Approved	Prp4p, HPRP4, HPRP4P, PRP4, SNRNP60	uc004bgx.3	O43172	OTTHUMG00000020517	ENST00000374198.4:c.936-1G>A	9.37:g.116050456G>A						PRPF4_uc004bgy.2_Missense_Mutation_p.D312N	p.D313N	NM_004697	NP_004688	O43172	PRP4_HUMAN			10	987	+			313			WD 2.		O43445|O43864|Q5T1M8|Q96DG2|Q96IK4	Missense_Mutation	SNP	ENST00000374198.4	37	c.937G>A	CCDS6791.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.263895	0.80358	.	.	ENSG00000136875	ENST00000374199;ENST00000374198	T;T	0.80653	-1.4;-1.4	5.87	5.87	0.94306	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.045274	0.85682	D	0.000000	T	0.82098	0.4963	L	0.52573	1.65	0.80722	D	1	P;P	0.36222	0.544;0.544	P;B	0.44811	0.461;0.314	T	0.80379	-0.1407	10	0.42905	T	0.14	.	17.3706	0.87376	0.0:0.0:1.0:0.0	.	328;313	Q59EL4;O43172	.;PRP4_HUMAN	N	312;313	ENSP00000363315:D312N;ENSP00000363313:D313N	ENSP00000363313:D313N	D	+	1	0	PRPF4	115090277	1.000000	0.71417	1.000000	0.80357	0.492000	0.33523	9.246000	0.95438	2.785000	0.95823	0.591000	0.81541	GAT		0.458	PRPF4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053708.2		NM_004697	Missense_Mutation	13	18	0	0	0	0.003163	0	13	18		
OR1B1	347169	broad.mit.edu	37	9	125391656	125391656	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr9:125391656C>T	ENST00000304833.3	-	1	196	c.159G>A	c.(157-159)tgG>tgA	p.W53*	RP11-64P14.7_ENST00000431442.1_RNA|RP11-64P14.7_ENST00000419604.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	53						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						GTCTGGAGTCCCAGGAGATGA	0.522																																						uc011lyz.1		NaN																	0					0						c.(157-159)TGG>TGA		olfactory receptor, family 1, subfamily B,							100.0	89.0	92.0					9																	125391656		2203	4300	6503	SO:0001587	stop_gained	347169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125391656C>T	AC006313	CCDS35126.1	9q33.2	2012-08-09			ENSG00000171484	ENSG00000171484		"""GPCR / Class A : Olfactory receptors"""	8181	protein-coding gene	gene with protein product							Standard	NM_001004450		Approved	OR9-B	uc011lyz.2	Q8NGR6	OTTHUMG00000020616	ENST00000304833.3:c.159G>A	9.37:g.125391656C>T	ENSP00000303151:p.Trp53*						p.W53*	NM_001004450	NP_001004450	Q8NGR6	OR1B1_HUMAN			1	159	-			53			Cytoplasmic (Potential).		Q6IFN3	Nonsense_Mutation	SNP	ENST00000304833.3	37	c.159G>A	CCDS35126.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.630165	0.28978	.	.	ENSG00000171484	ENST00000304833	.	.	.	4.41	1.5	0.22942	.	0.961109	0.08491	N	0.938054	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	2.2335	5.9877	0.19444	0.0:0.5233:0.2997:0.177	.	.	.	.	X	53	.	ENSP00000303151:W53X	W	-	3	0	OR1B1	124431477	0.000000	0.05858	0.351000	0.25721	0.038000	0.13279	-2.331000	0.01110	0.568000	0.29311	0.650000	0.86243	TGG		0.522	OR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053947.2		NM_001004450		17	12	0	0	0	0.006122	0	17	12		
GARNL3	84253	broad.mit.edu	37	9	130027210	130027210	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr9:130027210G>A	ENST00000373387.4	+	1	406	c.54G>A	c.(52-54)ctG>ctA	p.L18L	GARNL3_ENST00000314904.5_Silent_p.L18L|GARNL3_ENST00000435213.2_Intron	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	18					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						GTATAATACTGATGAAGCATT	0.453																																						uc011mae.1		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(52-54)CTG>CTA		GTPase activating Rap/RanGAP domain-like 3							222.0	213.0	216.0					9																	130027210		2203	4300	6503	SO:0001819	synonymous_variant	84253				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity	g.chr9:130027210G>A	BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 3"""			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.54G>A	9.37:g.130027210G>A						GARNL3_uc011mad.1_Intron	p.L18L	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN			1	455	+			18					B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Silent	SNP	ENST00000373387.4	37	c.54G>A	CCDS6869.2																																																																																				0.453	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054151.3		NM_032293		23	29	0	0	0	0.00278	0	23	29		
TPRN	286262	broad.mit.edu	37	9	140093630	140093630	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr9:140093630G>A	ENST00000409012.4	-	1	1620	c.1534C>T	c.(1534-1536)Ctg>Ttg	p.L512L	TPRN_ENST00000541945.1_Intron|TPRN_ENST00000321773.2_Silent_p.L451L	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN	taperin	512					sensory perception of sound (GO:0007605)	stereocilium (GO:0032420)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						TGGTCCTGCAGAGTCCCTGGC	0.672																																						uc004clt.2		NaN																	0					0						c.(1351-1353)CTG>TTG		hypothetical protein LOC286262 isoform 2							75.0	71.0	72.0					9																	140093630		2203	4300	6503	SO:0001819	synonymous_variant	286262				sensory perception of sound	stereocilium		g.chr9:140093630G>A	AK074735	CCDS56594.1	9q34.3	2011-01-06	2010-03-24	2010-03-24	ENSG00000176058	ENSG00000176058			26894	protein-coding gene	gene with protein product		613354	"""chromosome 9 open reading frame 75"", ""deafness, autosomal recessive 79"""	C9orf75, DFNB79		20170898, 20170899	Standard	NM_001128228		Approved	FLJ90254	uc004clu.3	Q4KMQ1	OTTHUMG00000020984	ENST00000409012.4:c.1534C>T	9.37:g.140093630G>A						TPRN_uc004clu.2_Silent_p.L451L	p.L451L	NM_173691	NP_775962	Q4KMQ1	TPRN_HUMAN			1	1351	-			512					B7ZKU5|Q5VSG5|Q5VSG6|Q6IPP2|Q8NCH2	Silent	SNP	ENST00000409012.4	37	c.1351C>T	CCDS56594.1																																																																																				0.672	TPRN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055323.3		NM_173691		48	37	0	0	0	0.01441	0	48	37		
FAM166A	401565	broad.mit.edu	37	9	140139108	140139108	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr9:140139108A>G	ENST00000344774.4	-	5	787	c.733T>C	c.(733-735)Ttc>Ctc	p.F245L		NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN	family with sequence similarity 166, member A	245						nucleus (GO:0005634)				kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						CTCTTGTCGAATTCGTCCATG	0.577																																						uc004cmi.1		NaN																	0				ovary(1)	1						c.(733-735)TTC>CTC		hypothetical protein LOC401565							141.0	121.0	128.0					9																	140139108		2199	4299	6498	SO:0001583	missense	401565							g.chr9:140139108A>G	BC132916	CCDS35186.1	9q34.3	2008-08-08			ENSG00000188163	ENSG00000188163			33818	protein-coding gene	gene with protein product							Standard	XR_245332		Approved		uc004cmi.1	Q6J272	OTTHUMG00000159545	ENST00000344774.4:c.733T>C	9.37:g.140139108A>G	ENSP00000344729:p.Phe245Leu						p.F245L	NM_001001710	NP_001001710	Q6J272	F166A_HUMAN			5	788	-			245					A6NND9|Q8N830	Missense_Mutation	SNP	ENST00000344774.4	37	c.733T>C	CCDS35186.1	.	.	.	.	.	.	.	.	.	.	A	15.51	2.854311	0.51270	.	.	ENSG00000188163	ENST00000344774	.	.	.	4.94	4.94	0.65067	.	0.000000	0.64402	D	0.000001	T	0.66247	0.2770	M	0.77103	2.36	0.80722	D	1	P	0.46987	0.888	P	0.48627	0.584	T	0.71547	-0.4560	9	0.59425	D	0.04	-9.8927	13.3901	0.60818	1.0:0.0:0.0:0.0	.	245	Q6J272	F166A_HUMAN	L	245	.	ENSP00000344729:F245L	F	-	1	0	FAM166A	139258929	0.960000	0.32886	0.778000	0.31720	0.066000	0.16364	3.078000	0.50096	1.843000	0.53566	0.448000	0.29417	TTC		0.577	FAM166A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356125.1		NM_001001710		24	18	0	0	0	0.005443	0	24	18		
SLC25A6	293	broad.mit.edu	37	X	1505571	1505571	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:1505571G>T	ENST00000381401.5	-	4	1535	c.821C>A	c.(820-822)gCg>gAg	p.A274E	SLC25A6_ENST00000475167.1_5'Flank	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	274					active induction of host immune response by virus (GO:0046732)|ADP transport (GO:0015866)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|modulation by virus of host morphology or physiology (GO:0019048)|protein targeting to mitochondrion (GO:0006626)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP:ADP antiporter activity (GO:0005471)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	GTTGGACCACGCACCCTTGAA	0.607																																						uc004cpt.2		NaN																	0					0						c.(820-822)GCG>GAG		adenine nucleotide translocator 3	Clodronate(DB00720)						303.0	263.0	276.0					X																	1505571		2203	4296	6499	SO:0001583	missense	293				active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding	g.chrX:1505571G>T	AY007135	CCDS14114.1	Xp22.32 and Yp11.3	2013-05-22			ENSG00000169100	ENSG00000169100		"""Pseudoautosomal regions / PAR1"", ""Solute carriers"""	10992	protein-coding gene	gene with protein product		300151, 403000		ANT3			Standard	NM_001636		Approved	ANT3Y, MGC17525	uc004cpt.3	P12236	OTTHUMG00000021058	ENST00000381401.5:c.821C>A	X.37:g.1505571G>T	ENSP00000370808:p.Ala274Glu					SLC25A6_uc004cpu.2_RNA	p.A274E	NM_001636	NP_001627	P12236	ADT3_HUMAN			4	917	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	274			Helical; Name=6; (By similarity).|Solcar 3.		Q96C49	Missense_Mutation	SNP	ENST00000381401.5	37	c.821C>A	CCDS14114.1	.	.	.	.	.	.	.	.	.	.	.	15.47	2.844165	0.51164	.	.	ENSG00000169100	ENST00000381401	T	0.79749	-1.3	1.82	1.82	0.25136	Mitochondrial carrier domain (2);	0.000000	0.49916	U	0.000139	D	0.93413	0.7899	H	0.99555	4.625	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	D	0.85891	0.1428	10	0.87932	D	0	.	12.0191	0.53333	0.0:0.0:1.0:0.0	.	274	P12236	ADT3_HUMAN	E	274	ENSP00000370808:A274E	ENSP00000370808:A274E	A	-	2	0	SLC25A6	1465571	1.000000	0.71417	0.547000	0.28179	0.830000	0.47004	7.406000	0.80017	0.972000	0.38314	0.388000	0.25769	GCG		0.607	SLC25A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055596.1		NM_001636		154	78	1	0	1.19662e-71	0.01441	1.30239e-71	154	78		
ARSH	347527	broad.mit.edu	37	X	2945385	2945385	+	Silent	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:2945385T>C	ENST00000381130.2	+	7	1068	c.1068T>C	c.(1066-1068)ggT>ggC	p.G356G		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	356					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GGGAAGGAGGTATCCGTGTGC	0.522																																						uc011mhj.1		NaN																	0				lung(1)	1						c.(1066-1068)GGT>GGC		arylsulfatase family, member H							200.0	157.0	172.0					X																	2945385		2203	4300	6503	SO:0001819	synonymous_variant	347527					integral to membrane	arylsulfatase activity|metal ion binding	g.chrX:2945385T>C	AY875940	CCDS35198.1	Xp22.33	2013-02-14	2006-03-07		ENSG00000205667	ENSG00000205667		"""Arylsulfatase family"""	32488	protein-coding gene	gene with protein product		300586	"""arylsulfatase H"""			16174644	Standard	NM_001011719		Approved		uc011mhj.2	Q5FYA8	OTTHUMG00000159612	ENST00000381130.2:c.1068T>C	X.37:g.2945385T>C							p.G356G	NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN			7	1068	+		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	356						Silent	SNP	ENST00000381130.2	37	c.1068T>C	CCDS35198.1																																																																																				0.522	ARSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356489.1		NM_001011719		36	20	0	0	0	0.00623	0	36	20		
MID1	4281	broad.mit.edu	37	X	10535150	10535150	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:10535150C>T	ENST00000317552.4	-	2	838	c.438G>A	c.(436-438)ctG>ctA	p.L146L	MID1_ENST00000380785.1_Silent_p.L146L|MID1_ENST00000380780.1_Silent_p.L146L|MID1_ENST00000453318.2_Silent_p.L146L|MID1_ENST00000380782.2_Silent_p.L146L|MID1_ENST00000380787.1_Silent_p.L146L|MID1_ENST00000380779.1_Silent_p.L146L	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	146					microtubule cytoskeleton organization (GO:0000226)|negative regulation of microtubule depolymerization (GO:0007026)|pattern specification process (GO:0007389)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein localization to microtubule (GO:0035372)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						GAGTGGCTTTCAGGCACTCGT	0.552																																						uc004cte.3		NaN																	0				ovary(2)|pancreas(1)	3						c.(436-438)CTG>CTA		midline 1							85.0	68.0	74.0					X																	10535150		2203	4300	6503	SO:0001819	synonymous_variant	4281				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding	g.chrX:10535150C>T	Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7095	protein-coding gene	gene with protein product	"""Opitz/BBB syndrome"""	300552				9354791, 9425238	Standard	NM_001098624		Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.438G>A	X.37:g.10535150C>T						MID1_uc004ctd.3_5'Flank|MID1_uc004ctg.3_Silent_p.L146L|MID1_uc004cth.3_Silent_p.L146L|MID1_uc004ctk.3_Silent_p.L146L|MID1_uc004cti.3_Silent_p.L146L|MID1_uc004ctj.3_Silent_p.L146L|MID1_uc011mie.1_RNA|MID1_uc004ctm.1_Silent_p.L146L|MID1_uc004ctn.1_Silent_p.L146L|MID1_uc004cto.1_Silent_p.L146L|MID1_uc010ndw.1_5'Flank|MID1_uc004cts.1_5'Flank|MID1_uc004ctt.2_Silent_p.L146L|MID1_uc004ctu.2_Silent_p.L146L|MID1_uc004ctv.2_Silent_p.L146L|MID1_uc004ctw.2_Silent_p.L146L|MID1_uc010ndy.1_Silent_p.L146L|uc010ndz.1_5'Flank|MID1_uc004cty.2_Silent_p.L146L|MID1_uc004ctz.1_5'Flank|MID1_uc004cua.1_RNA|MID1_uc004cub.1_Silent_p.L146L|MID1_uc010nea.1_Intron|MID1_uc004cuc.1_Silent_p.L146L|MID1_uc004cud.1_Silent_p.L146L|MID1_uc004cue.1_Silent_p.L146L|MID1_uc004cuf.1_Silent_p.L146L|MID1_uc004cug.1_Silent_p.L146L	p.L146L	NM_033290	NP_150632	O15344	TRI18_HUMAN			2	629	-			146			B box-type 1.		B2RCG2|O75361|Q9BZX5	Silent	SNP	ENST00000317552.4	37	c.438G>A	CCDS14138.1																																																																																				0.552	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055738.1				38	24	0	0	0	0.004289	0	38	24		
ARHGAP6	395	broad.mit.edu	37	X	11204418	11204418	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:11204418T>C	ENST00000337414.4	-	5	2083	c.1211A>G	c.(1210-1212)aAt>aGt	p.N404S	ARHGAP6_ENST00000303025.6_Missense_Mutation_p.N201S|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.N201S|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.N404S|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.N229S|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.N436S|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.N213S	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	404	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GTAAATAGGATTCAGACTGAG	0.428																																						uc004cup.1		NaN																	0				urinary_tract(1)|lung(1)	2						c.(1210-1212)AAT>AGT		Rho GTPase activating protein 6 isoform 1							160.0	138.0	146.0					X																	11204418		2203	4300	6503	SO:0001583	missense	395				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	g.chrX:11204418T>C	AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.1211A>G	X.37:g.11204418T>C	ENSP00000338967:p.Asn404Ser					ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Missense_Mutation_p.N404S|ARHGAP6_uc004cum.1_Missense_Mutation_p.N201S|ARHGAP6_uc004cun.1_Missense_Mutation_p.N224S|ARHGAP6_uc010neb.1_Missense_Mutation_p.N226S|ARHGAP6_uc011mif.1_Missense_Mutation_p.N201S	p.N404S	NM_013427	NP_038286	O43182	RHG06_HUMAN			5	2084	-			404			Rho-GAP.		B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	ENST00000337414.4	37	c.1211A>G	CCDS14140.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.662562	0.88251	.	.	ENSG00000047648	ENST00000534860;ENST00000380736;ENST00000303025;ENST00000337414;ENST00000380717;ENST00000380718;ENST00000413512;ENST00000380732	T;T;T;T;T;T;T;T	0.24723	1.85;1.86;1.86;1.86;1.85;1.84;1.92;1.95	5.51	5.51	0.81932	Rho GTPase-activating protein domain (1);Rho GTPase activation protein (1);	0.000000	0.56097	D	0.000022	T	0.45776	0.1359	L	0.52266	1.64	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.991;1.0;0.983;1.0	D;P;D;P;D	0.87578	0.994;0.866;0.998;0.884;0.997	T	0.39057	-0.9632	10	0.56958	D	0.05	.	14.6981	0.69136	0.0:0.0:0.0:1.0	.	213;201;404;404;404	B7Z8H7;O43182-5;O43182-2;O43182;A8KAL3	.;.;.;RHG06_HUMAN;.	S	229;201;201;404;240;404;213;436	ENSP00000438135:N229S;ENSP00000370112:N201S;ENSP00000302312:N201S;ENSP00000338967:N404S;ENSP00000370093:N240S;ENSP00000370094:N404S;ENSP00000389394:N213S;ENSP00000370108:N436S	ENSP00000302312:N201S	N	-	2	0	ARHGAP6	11114339	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.762000	0.68809	1.852000	0.53769	0.486000	0.48141	AAT		0.428	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2		NM_013427		110	84	0	0	0	0.01441	0	110	84		
AMELX	265	broad.mit.edu	37	X	11316858	11316858	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:11316858T>C	ENST00000380714.3	+	5	403	c.335T>C	c.(334-336)aTc>aCc	p.I112T	AMELX_ENST00000348912.4_Missense_Mutation_p.I96T|ARHGAP6_ENST00000380736.1_Intron|ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000380732.3_Intron|ARHGAP6_ENST00000337414.4_Intron|ARHGAP6_ENST00000413512.3_Intron|AMELX_ENST00000380712.3_Missense_Mutation_p.I126T	NM_001142.2	NP_001133.1	Q99217	AMELX_HUMAN	amelogenin, X-linked	112					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|enamel mineralization (GO:0070166)|epithelial to mesenchymal transition (GO:0001837)|ion homeostasis (GO:0050801)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of tooth mineralization (GO:0070172)|signal transduction (GO:0007165)|tooth mineralization (GO:0034505)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|hydroxyapatite binding (GO:0046848)|identical protein binding (GO:0042802)|structural constituent of tooth enamel (GO:0030345)			endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						ATGACTCCAATCCAACACCAC	0.642																																						uc004cut.2		NaN																	0					0						c.(334-336)ATC>ACC		amelogenin (X chromosome) isoform 1 precursor							146.0	120.0	129.0					X																	11316858		2203	4300	6503	SO:0001583	missense	265				cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel	g.chrX:11316858T>C		CCDS14144.1, CCDS14145.1, CCDS14146.1	Xp22.31-p22.1	2010-04-20	2010-04-20		ENSG00000125363	ENSG00000125363			461	protein-coding gene	gene with protein product	"""amelogenesis imperfecta 1"""	300391	"""amelogenin (X chromosome, amelogenesis imperfecta 1)"""	AMG, AIH1		1734713	Standard	NM_182680		Approved		uc004cus.3	Q99217	OTTHUMG00000021130	ENST00000380714.3:c.335T>C	X.37:g.11316858T>C	ENSP00000370090:p.Ile112Thr					ARHGAP6_uc004cup.1_Intron|ARHGAP6_uc004cuo.1_Intron|ARHGAP6_uc004cur.1_Intron|ARHGAP6_uc004cun.1_Intron|ARHGAP6_uc011mif.1_Intron|AMELX_uc004cus.2_Missense_Mutation_p.I126T|AMELX_uc004cuu.2_Missense_Mutation_p.I96T	p.I112T	NM_001142	NP_001133	Q99217	AMELX_HUMAN			5	403	+			112					Q96NW6|Q9UCA7	Missense_Mutation	SNP	ENST00000380714.3	37	c.335T>C	CCDS14144.1	.	.	.	.	.	.	.	.	.	.	T	0.134	-1.110371	0.01813	.	.	ENSG00000125363	ENST00000380714;ENST00000380712;ENST00000348912	D;D;D	0.88741	-2.42;-2.42;-2.42	5.15	1.39	0.22231	.	0.214876	0.32671	N	0.005789	T	0.60676	0.2287	N	0.01631	-0.79	0.19945	N	0.999949	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.55749	-0.8092	10	0.02654	T	1	0.3509	1.29	0.02058	0.1537:0.441:0.1461:0.2592	.	96;112;126	Q99217-2;Q99217;Q99217-3	.;AMELX_HUMAN;.	T	112;126;96	ENSP00000370090:I112T;ENSP00000370088:I126T;ENSP00000335312:I96T	ENSP00000335312:I96T	I	+	2	0	AMELX	11226779	0.997000	0.39634	0.959000	0.39883	0.858000	0.48976	0.389000	0.20751	-0.139000	0.11414	-0.485000	0.04761	ATC		0.642	AMELX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055746.1		NM_001142		65	39	0	0	0	0.01441	0	65	39		
RBBP7	5931	broad.mit.edu	37	X	16864054	16864054	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:16864054T>A	ENST00000380087.2	-	11	1466	c.1106A>T	c.(1105-1107)cAt>cTt	p.H369L	RBBP7_ENST00000380084.4_Missense_Mutation_p.H413L|RBBP7_ENST00000404022.1_Missense_Mutation_p.H360L			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	369					cell proliferation (GO:0008283)|cellular heat acclimation (GO:0070370)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	RNA binding (GO:0003723)			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					GTGTCCTCCATGAATAAACTG	0.363																																						uc004cxt.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1105-1107)CAT>CTT		retinoblastoma binding protein 7							64.0	58.0	60.0					X																	16864054		2203	4300	6503	SO:0001583	missense	5931				cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding	g.chrX:16864054T>A	U35143	CCDS14179.1, CCDS56598.1	Xp22.22	2013-01-10	2001-11-28		ENSG00000102054	ENSG00000102054		"""WD repeat domain containing"""	9890	protein-coding gene	gene with protein product	"""G1/S transition control protein-binding protein RbAp46"", ""retinoblastoma-binding protein 7"", ""retinoblastoma-binding protein RbAp46"", ""histone acetyltransferase type B subunit 2"", ""retinoblastoma-binding protein p46"""	300825	"""retinoblastoma-binding protein 7"""			7503932	Standard	NM_002893		Approved	RbAp46	uc004cxs.2	Q16576	OTTHUMG00000021198	ENST00000380087.2:c.1106A>T	X.37:g.16864054T>A	ENSP00000369427:p.His369Leu					RBBP7_uc004cxs.1_Missense_Mutation_p.H413L|RBBP7_uc004cxu.2_Missense_Mutation_p.H360L	p.H369L	NM_002893	NP_002884	Q16576	RBBP7_HUMAN			11	1464	-	Hepatocellular(33;0.0997)		369			WD 6.		Q5JP00	Missense_Mutation	SNP	ENST00000380087.2	37	c.1106A>T	CCDS14179.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.612522	0.87258	.	.	ENSG00000102054	ENST00000425696;ENST00000380087;ENST00000380084;ENST00000404022	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.36	5.36	0.76844	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.69735	0.3144	M	0.79805	2.47	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.995	T	0.74748	-0.3560	10	0.87932	D	0	-41.1206	13.681	0.62484	0.0:0.0:0.0:1.0	.	360;369;413	E9PC52;Q16576;Q5JP00	.;RBBP7_HUMAN;.	L	29;369;413;360	ENSP00000415747:H29L;ENSP00000369427:H369L;ENSP00000369424:H413L;ENSP00000386068:H360L	ENSP00000369424:H413L	H	-	2	0	RBBP7	16773975	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.937000	0.87672	1.894000	0.54839	0.486000	0.48141	CAT		0.363	RBBP7-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055920.2		NM_002893		31	19	0	0	0	0.007291	0	31	19		
DMD	1756	broad.mit.edu	37	X	31947824	31947824	+	Silent	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:31947824G>C	ENST00000357033.4	-	47	7007	c.6801C>G	c.(6799-6801)ctC>ctG	p.L2267L	DMD_ENST00000378707.3_5'UTR|DMD_ENST00000378677.2_Silent_p.L2263L|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000343523.2_5'UTR	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2267					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTAATTGTTTGAGAATTCCCT	0.423																																						uc004dda.1		NaN																	0				ovary(3)|pancreas(2)|large_intestine(1)	6						c.(6799-6801)CTC>CTG		dystrophin Dp427m isoform							137.0	115.0	123.0					X																	31947824		2202	4300	6502	SO:0001819	synonymous_variant	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31947824G>C	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.6801C>G	X.37:g.31947824G>C						DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Silent_p.L923L|DMD_uc004dcx.2_Silent_p.L926L|DMD_uc004dcz.2_Silent_p.L2144L|DMD_uc004dcy.1_Silent_p.L2263L|DMD_uc004ddb.1_Silent_p.L2259L|DMD_uc010ngn.1_Intron	p.L2267L	NM_004006	NP_003997	P11532	DMD_HUMAN			47	7045	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2267			Spectrin 16.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	c.6801C>G	CCDS14233.1																																																																																				0.423	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2		NM_004006		21	31	0	0	0	0.012319	0	21	31		
KDM6A	7403	broad.mit.edu	37	X	44922802	44922802	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:44922802C>T	ENST00000377967.4	+	16	1704	c.1663C>T	c.(1663-1665)Cag>Tag	p.Q555*	KDM6A_ENST00000536777.1_Nonsense_Mutation_p.Q510*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.Q562*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.Q476*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	555	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.0(2)|p.Q555*(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TAGCGTCTCTCAGCCTGGAGT	0.567			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	uc004dge.3		NaN		Rec	yes		X	Xp11.2	7403	D|N|F|S	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			renal|oesophageal SCC|MM		10	Whole gene deletion(6)|Substitution - Nonsense(2)|No detectable mRNA/protein(2)		urinary_tract(2)|haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|breast(2)|pancreas(2)	kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						c.(1663-1665)CAG>TAG		ubiquitously transcribed tetratricopeptide							97.0	65.0	76.0					X																	44922802		2203	4300	6503	SO:0001587	stop_gained	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44922802C>T	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.1663C>T	X.37:g.44922802C>T	ENSP00000367203:p.Gln555*					KDM6A_uc010nhk.2_Nonsense_Mutation_p.Q521*|KDM6A_uc011mkz.1_Nonsense_Mutation_p.Q607*|KDM6A_uc011mla.1_Nonsense_Mutation_p.Q510*|KDM6A_uc011mlb.1_Nonsense_Mutation_p.Q562*|KDM6A_uc011mlc.1_Nonsense_Mutation_p.Q259*|KDM6A_uc011mld.1_Nonsense_Mutation_p.Q194*	p.Q555*	NM_021140	NP_066963	O15550	KDM6A_HUMAN			16	2038	+			555					Q52LL9|Q5JVQ7	Nonsense_Mutation	SNP	ENST00000377967.4	37	c.1663C>T	CCDS14265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	24.7|24.7	4.560972|4.560972	0.86335|0.86335	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216;ENST00000535688|ENST00000414389;ENST00000433797	.|T;T	.|0.23552	.|1.9;1.91	4.71|4.71	4.71|4.71	0.59529|0.59529	.|.	0.200761|.	0.44285|.	D|.	0.000466|.	.|T	.|0.47040	.|0.1424	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.57294	.|-0.7836	.|5	0.38643|0.62326	T|D	0.18|0.03	-5.3391|-5.3391	17.0783|17.0783	0.86591|0.86591	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	252;555;510;562;476;148|152;197	.|ENSP00000405910:S152L;ENSP00000398929:S197L	ENSP00000334340:Q252X|ENSP00000405910:S152L	Q|S	+|+	1|2	0|0	KDM6A|KDM6A	44807746|44807746	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.859000|0.859000	0.49053|0.49053	7.160000|7.160000	0.77495|0.77495	2.039000|2.039000	0.60335|0.60335	0.509000|0.509000	0.49947|0.49947	CAG|TCA		0.567	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1		NM_021140		29	24	0	0	0	0.007291	0	29	24		
CHST7	56548	broad.mit.edu	37	X	46434113	46434113	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:46434113C>T	ENST00000276055.3	+	1	895	c.747C>T	c.(745-747)atC>atT	p.I249I		NM_019886.2	NP_063939.2	Q9NS84	CHST7_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 7	249					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|N-acetylglucosamine metabolic process (GO:0006044)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 6-sulfotransferase activity (GO:0008459)|N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)			breast(3)|endometrium(2)|kidney(1)|lung(2)	8						TGGTGGTCATCAAGGACGTGC	0.682																																						uc004dgt.2		NaN																	0				breast(3)	3						c.(745-747)ATC>ATT		chondroitin 6-sulfotransferase 7							70.0	57.0	61.0					X																	46434113		2201	4300	6501	SO:0001819	synonymous_variant	56548				chondroitin sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity|N-acetylglucosamine 6-O-sulfotransferase activity	g.chrX:46434113C>T	AB040711	CCDS14268.1	Xp11.3	2008-02-05			ENSG00000147119	ENSG00000147119		"""Sulfotransferases, membrane-bound"""	13817	protein-coding gene	gene with protein product		300375				10781596	Standard	NM_019886		Approved	C6ST-2, C6ST2	uc004dgt.3	Q9NS84	OTTHUMG00000021423	ENST00000276055.3:c.747C>T	X.37:g.46434113C>T							p.I249I	NM_019886	NP_063939	Q9NS84	CHST7_HUMAN			1	922	+			249			Lumenal (Potential).		O75667	Silent	SNP	ENST00000276055.3	37	c.747C>T	CCDS14268.1																																																																																				0.682	CHST7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056362.1		NM_019886		12	14	0	0	0	0.010729	0	12	14		
OTUD5	55593	broad.mit.edu	37	X	48780496	48780496	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:48780496C>T	ENST00000156084.4	-	9	1731	c.1671G>A	c.(1669-1671)atG>atA	p.M557I	OTUD5_ENST00000484499.1_5'Flank|OTUD5_ENST00000376488.3_Missense_Mutation_p.M552I|OTUD5_ENST00000428668.2_Missense_Mutation_p.M335I|OTUD5_ENST00000396743.3_Missense_Mutation_p.M552I	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN	OTU deubiquitinase 5	557					innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)	ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						TGTTTTTCTTCATACTGTCTA	0.532																																						uc004dlu.2		NaN																	0				pancreas(1)	1						c.(1669-1671)ATG>ATA		OTU domain containing 5 isoform a							169.0	136.0	147.0					X																	48780496		2203	4300	6503	SO:0001583	missense	55593				negative regulation of type I interferon production		cysteine-type peptidase activity	g.chrX:48780496C>T		CCDS14313.1, CCDS48104.1, CCDS48105.1	Xp11.23	2014-06-09	2014-02-24		ENSG00000068308	ENSG00000068308		"""OTU domain containing"""	25402	protein-coding gene	gene with protein product		300713	"""OTU domain containing 5"""			24143256	Standard	NM_001136157		Approved	DKFZp761A052, DUBA	uc004dlu.3	Q96G74	OTTHUMG00000024130	ENST00000156084.4:c.1671G>A	X.37:g.48780496C>T	ENSP00000156084:p.Met557Ile					OTUD5_uc004dlt.3_Missense_Mutation_p.M552I|OTUD5_uc004dlv.2_Missense_Mutation_p.M552I|OTUD5_uc011mmp.1_Missense_Mutation_p.M335I	p.M557I	NM_017602	NP_060072	Q96G74	OTUD5_HUMAN			9	1732	-			557					B4DGG7|G5E9D7|Q4KMN9|Q8N6T5|Q9H650|Q9H9U0|Q9NT65	Missense_Mutation	SNP	ENST00000156084.4	37	c.1671G>A	CCDS14313.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.210468	0.39102	.	.	ENSG00000068308	ENST00000396743;ENST00000453548;ENST00000455452;ENST00000156084;ENST00000376488;ENST00000428668	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.23410	0.0566	N	0.08118	0	0.50171	D	0.999851	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.11329	0.0;0.003;0.006	T	0.06041	-1.0849	10	0.42905	T	0.14	-15.5109	10.5144	0.44881	0.0:0.9047:0.0:0.0953	.	335;557;552	B4DGG7;Q96G74;G5E9D7	.;OTUD5_HUMAN;.	I	552;528;430;557;552;335	ENSP00000379969:M552I;ENSP00000390767:M430I;ENSP00000156084:M557I;ENSP00000365671:M552I;ENSP00000401629:M335I	ENSP00000156084:M557I	M	-	3	0	OTUD5	48665440	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	3.264000	0.51553	2.426000	0.82243	0.529000	0.55759	ATG		0.532	OTUD5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000060799.1		NM_017602		33	26	0	0	0	0.003271	0	33	26		
GPKOW	27238	broad.mit.edu	37	X	48973498	48973498	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:48973498C>T	ENST00000156109.5	-	6	877	c.799G>A	c.(799-801)Gac>Aac	p.D267N		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	267	KOW 1.					nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						CGAACATTGTCAGGATCAAGG	0.547																																						uc004dmr.2		NaN																	0				ovary(2)	2						c.(799-801)GAC>AAC		G patch domain and KOW motifs							104.0	80.0	88.0					X																	48973498		2203	4300	6503	SO:0001583	missense	27238					nucleus	nucleic acid binding	g.chrX:48973498C>T	U66359	CCDS35251.1	Xp11.23	2013-01-28			ENSG00000068394	ENSG00000068394		"""G patch domain containing"""	30677	protein-coding gene	gene with protein product	"""G patch domain containing 5"""					21880142, 22365833	Standard	NM_015698		Approved	T54, GPATC5, GPATCH5, Spp2	uc004dmr.3	Q92917	OTTHUMG00000021511	ENST00000156109.5:c.799G>A	X.37:g.48973498C>T	ENSP00000156109:p.Asp267Asn						p.D267N	NM_015698	NP_056513	Q92917	GPKOW_HUMAN			6	806	-			267			KOW 1.		Q59EK5|Q9BQA8	Missense_Mutation	SNP	ENST00000156109.5	37	c.799G>A	CCDS35251.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.908185	0.92107	.	.	ENSG00000068394	ENST00000156109	.	.	.	5.25	5.25	0.73442	KOW (2);	0.094329	0.64402	D	0.000001	T	0.66268	0.2772	L	0.28400	0.85	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.68945	-0.5275	9	0.56958	D	0.05	-0.0133	16.8793	0.86059	0.0:1.0:0.0:0.0	.	267	Q92917	GPKOW_HUMAN	N	267	.	ENSP00000156109:D267N	D	-	1	0	GPKOW	48860442	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.531000	0.67148	2.334000	0.79466	0.597000	0.82753	GAC		0.547	GPKOW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056535.2		NM_015698		36	23	0	0	0	0.004878	0	36	23		
IQSEC2	23096	broad.mit.edu	37	X	53268459	53268459	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:53268459C>A	ENST00000375368.5	-	10	3203	c.3003G>T	c.(3001-3003)caG>caT	p.Q1001H	IQSEC2_ENST00000396435.3_Missense_Mutation_p.Q1011H|IQSEC2_ENST00000375365.2_Missense_Mutation_p.Q806H			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	1001	PH.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						TCTTCTTCTTCTGGAAAATTT	0.498											OREG0019800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004dsd.2		NaN																	0				ovary(3)	3						c.(3031-3033)CAG>CAT		IQ motif and Sec7 domain 2 isoform1							78.0	74.0	75.0					X																	53268459		2203	4300	6503	SO:0001583	missense	23096				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chrX:53268459C>A	AB011094	CCDS35298.1, CCDS48130.1	Xp11.23	2014-01-31			ENSG00000124313	ENSG00000124313			29059	protein-coding gene	gene with protein product		300522	"""mental retardation, X-linked 1 (non-dysmorphic)"""	MRX1		9628581, 20473311	Standard	NM_001243197		Approved	KIAA0522	uc004dsd.3	Q5JU85	OTTHUMG00000021608	ENST00000375368.5:c.3003G>T	X.37:g.53268459C>A	ENSP00000364517:p.Gln1001His		OREG0019800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	991	IQSEC2_uc004dsc.2_Missense_Mutation_p.Q806H	p.Q1011H	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN			11	3234	-			1001			PH.		B3KT97|C7SDG1|O60275|Q5JUX1	Missense_Mutation	SNP	ENST00000375368.5	37	c.3033G>T		.	.	.	.	.	.	.	.	.	.	C	20.8	4.053829	0.75960	.	.	ENSG00000124313	ENST00000396435;ENST00000375368;ENST00000375365	T;T;T	0.63580	-0.05;-0.05;-0.05	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.76821	0.4041	M	0.62723	1.935	0.58432	D	0.999998	D;D	0.61080	0.983;0.989	P;D	0.68483	0.794;0.958	T	0.77953	-0.2394	10	0.56958	D	0.05	.	17.3443	0.87306	0.0:1.0:0.0:0.0	.	1011;806	Q5JU85-2;Q5JU85-3	.;.	H	1011;1001;806	ENSP00000379712:Q1011H;ENSP00000364517:Q1001H;ENSP00000364514:Q806H	ENSP00000364514:Q806H	Q	-	3	2	IQSEC2	53285184	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.310000	0.33551	2.363000	0.80096	0.511000	0.50034	CAG		0.498	IQSEC2-201	KNOWN	basic	protein_coding	protein_coding			XM_291345		14	27	1	0	0.000308642	0.003163	0.000319004	14	27		
PFKFB1	5207	broad.mit.edu	37	X	54959877	54959877	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:54959877C>T	ENST00000375006.3	-	14	1445	c.1375G>A	c.(1375-1377)Gaa>Aaa	p.E459K	PFKFB1_ENST00000374992.2_Missense_Mutation_p.E259K|PFKFB1_ENST00000545676.1_Missense_Mutation_p.E394K	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	459	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|intracellular signal transduction (GO:0035556)|organ regeneration (GO:0031100)|positive regulation of glucokinase activity (GO:0033133)|response to cAMP (GO:0051591)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex (GO:0043540)|cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|fructose-6-phosphate binding (GO:0070095)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						TCCTCAGGTTCCCGGGTGATG	0.552																																						uc004dty.1		NaN																	0				ovary(1)	1						c.(1375-1377)GAA>AAA		6-phosphofructo-2-kinase/fructose-2,							128.0	99.0	109.0					X																	54959877		2203	4300	6503	SO:0001583	missense	5207				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	g.chrX:54959877C>T		CCDS14364.1, CCDS65273.1	Xp11.21	2012-07-13			ENSG00000158571	ENSG00000158571	2.7.1.105, 3.1.3.46		8872	protein-coding gene	gene with protein product		311790		PFRX		9119406	Standard	NM_002625		Approved		uc004dty.2	P16118	OTTHUMG00000021643	ENST00000375006.3:c.1375G>A	X.37:g.54959877C>T	ENSP00000364145:p.Glu459Lys					PFKFB1_uc010nkd.1_Missense_Mutation_p.E267K|PFKFB1_uc011mol.1_Missense_Mutation_p.E394K	p.E459K	NM_002625	NP_002616	P16118	F261_HUMAN			14	1446	-			459			Fructose-2,6-bisphosphatase.		B2RA88|B4DUN5|Q5JXS5|Q99951	Missense_Mutation	SNP	ENST00000375006.3	37	c.1375G>A	CCDS14364.1	.	.	.	.	.	.	.	.	.	.	C	6.550	0.469719	0.12461	.	.	ENSG00000158571	ENST00000375006;ENST00000545676;ENST00000374992	.	.	.	4.28	4.28	0.50868	.	0.104282	0.64402	D	0.000005	T	0.28797	0.0714	N	0.12569	0.235	0.49798	D	0.999826	B;B;B	0.12630	0.0;0.006;0.0	B;B;B	0.06405	0.001;0.002;0.0	T	0.10405	-1.0631	9	0.08599	T	0.76	-9.0867	9.6866	0.40103	0.0:0.8924:0.0:0.1076	.	394;259;459	B4DUN5;Q4VBA9;P16118	.;.;F261_HUMAN	K	459;394;259	.	ENSP00000364131:E259K	E	-	1	0	PFKFB1	54976602	0.040000	0.19996	0.998000	0.56505	0.760000	0.43138	0.721000	0.25911	1.889000	0.54706	0.287000	0.19450	GAA		0.552	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056847.1				27	16	0	0	0	0.004656	0	27	16		
APEX2	27301	broad.mit.edu	37	X	55028739	55028739	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:55028739G>A	ENST00000374987.3	+	3	363	c.297G>A	c.(295-297)ctG>ctA	p.L99L	APEX2_ENST00000471758.1_Intron	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	99					base-excision repair (GO:0006284)|cell cycle (GO:0007049)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						AAGAAGGCCTGAGTGGCCTGT	0.552								Other BER factors																														uc004dtz.2		NaN																	0				breast(1)	1						c.(295-297)CTG>CTA	Other_BER_factors	apurinic/apyrimidinic endonuclease 2							90.0	71.0	77.0					X																	55028739		2203	4300	6503	SO:0001819	synonymous_variant	27301				cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding	g.chrX:55028739G>A	AB021260	CCDS14365.1	Xp11.23	2014-02-18			ENSG00000169188	ENSG00000169188	4.2.99.18		17889	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 2"""	300773				11376153	Standard	NM_014481		Approved	APEXL2, APE2, XTH2, ZGRF2	uc004dtz.4	Q9UBZ4	OTTHUMG00000021642	ENST00000374987.3:c.297G>A	X.37:g.55028739G>A						APEX2_uc011mom.1_Intron	p.L99L	NM_014481	NP_055296	Q9UBZ4	APEX2_HUMAN			3	373	+			99					Q9Y5X7	Silent	SNP	ENST00000374987.3	37	c.297G>A	CCDS14365.1																																																																																				0.552	APEX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056845.1				46	20	0	0	0	0.01441	0	46	20		
UBQLN2	29978	broad.mit.edu	37	X	56591246	56591246	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:56591246G>A	ENST00000338222.5	+	1	1221	c.940G>A	c.(940-942)Gat>Aat	p.D314N		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	314					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						AGAAAATCGCGATCCACTACC	0.567																																					Esophageal Squamous(104;218 1492 6022 10838 28884)	uc004dus.2		NaN																	0				ovary(1)|skin(1)	2						c.(940-942)GAT>AAT		ubiquilin 2							61.0	49.0	53.0					X																	56591246		2203	4300	6503	SO:0001583	missense	29978					cytoplasm|nucleus|plasma membrane	binding	g.chrX:56591246G>A	AF189009	CCDS14374.1	Xp11.21	2014-09-17			ENSG00000188021	ENSG00000188021		"""Ubiquilin family"""	12509	protein-coding gene	gene with protein product	"""NEDD4 binding protein 4"""	300264				10675567	Standard	NM_013444		Approved	Chap1, Dsk2, RIHFB2157, LIC-2, CHAP1/DSK2, PLIC-2, N4BP4, PLIC2	uc004dus.3	Q9UHD9	OTTHUMG00000021669	ENST00000338222.5:c.940G>A	X.37:g.56591246G>A	ENSP00000345195:p.Asp314Asn					UBQLN2_uc011moq.1_Missense_Mutation_p.D314N	p.D314N	NM_013444	NP_038472	Q9UHD9	UBQL2_HUMAN			1	1175	+			314					O94798|Q5D027|Q9H3W6|Q9HAZ4	Missense_Mutation	SNP	ENST00000338222.5	37	c.940G>A	CCDS14374.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.072644	0.36566	.	.	ENSG00000188021	ENST00000338222;ENST00000535171	T	0.79940	-1.32	4.93	4.93	0.64822	.	0.000000	0.64402	D	0.000001	T	0.80979	0.4728	N	0.25992	0.78	0.58432	D	0.999993	D;P	0.76494	0.999;0.949	D;B	0.65684	0.937;0.233	T	0.76350	-0.2991	10	0.16896	T	0.51	-11.784	14.6902	0.69080	0.0:0.0:1.0:0.0	.	314;314	B4DZF1;Q9UHD9	.;UBQL2_HUMAN	N	314	ENSP00000345195:D314N	ENSP00000345195:D314N	D	+	1	0	UBQLN2	56607971	1.000000	0.71417	0.979000	0.43373	0.865000	0.49528	8.654000	0.91092	2.440000	0.82611	0.600000	0.82982	GAT		0.567	UBQLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056891.1		NM_013444		27	20	0	0	0	0.005443	0	27	20		
KIAA2022	340533	broad.mit.edu	37	X	73963126	73963126	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:73963126C>T	ENST00000055682.6	-	3	1877	c.1266G>A	c.(1264-1266)aaG>aaA	p.K422K		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	422					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GCTTTGGATTCTTAAGTTGCT	0.428																																						uc004eby.2		NaN																	0				ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(1264-1266)AAG>AAA		hypothetical protein LOC340533							195.0	162.0	173.0					X																	73963126		2203	4300	6503	SO:0001819	synonymous_variant	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73963126C>T		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.1266G>A	X.37:g.73963126C>T							p.K422K	NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN			3	1883	-			422					A7YY87|Q5JUX9|Q8IVE9	Silent	SNP	ENST00000055682.6	37	c.1266G>A	CCDS35337.1																																																																																				0.428	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2		NM_001008537		21	39	0	0	0	0.014323	0	21	39		
MAGEE2	139599	broad.mit.edu	37	X	75003930	75003930	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:75003930G>A	ENST00000373359.2	-	1	1149	c.957C>T	c.(955-957)gtC>gtT	p.V319V		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	319	MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TAGCCAACTGGACCAAATCAT	0.453																																						uc004ecj.1		NaN																	0				ovary(1)|skin(1)	2						c.(955-957)GTC>GTT		melanoma antigen family E, 2							98.0	82.0	87.0					X																	75003930		2203	4300	6503	SO:0001819	synonymous_variant	139599							g.chrX:75003930G>A	AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.957C>T	X.37:g.75003930G>A							p.V319V	NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN			1	1142	-			319			MAGE 2.		Q5JSI5	Silent	SNP	ENST00000373359.2	37	c.957C>T	CCDS14431.1																																																																																				0.453	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057288.1		NM_138703		18	35	0	0	0	0.012319	0	18	35		
TNMD	64102	broad.mit.edu	37	X	99854576	99854576	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:99854576C>T	ENST00000373031.4	+	7	1033	c.816C>T	c.(814-816)ggC>ggT	p.G272G		NM_022144.2	NP_071427.2	Q9H2S6	TNMD_HUMAN	tenomodulin	272					cellular response to BMP stimulus (GO:0071773)|endothelial cell morphogenesis (GO:0001886)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|tendon cell differentiation (GO:0035990)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						GCCGTCGAGGCAACCGCTATT	0.478																																						uc004efy.3		NaN																	0				central_nervous_system(1)	1						c.(814-816)GGC>GGT		tenomodulin							93.0	59.0	70.0					X																	99854576		2203	4300	6503	SO:0001819	synonymous_variant	64102					integral to membrane		g.chrX:99854576C>T	AF191770	CCDS14469.1	Xq21.33-q23	2012-10-10			ENSG00000000005	ENSG00000000005		"""BRICHOS domain containing"""	17757	protein-coding gene	gene with protein product	"""BRICHOS domain containing 4"""	300459					Standard	NM_022144		Approved	myodulin, ChM1L, tendin, TEM, BRICD4	uc004efy.4	Q9H2S6	OTTHUMG00000022001	ENST00000373031.4:c.816C>T	X.37:g.99854576C>T						TNMD_uc004efz.2_3'UTR	p.G272G	NM_022144	NP_071427	Q9H2S6	TNMD_HUMAN			7	1042	+			272			Extracellular (Potential).		Q9HBX0|Q9UJG0	Silent	SNP	ENST00000373031.4	37	c.816C>T	CCDS14469.1																																																																																				0.478	TNMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057481.1		NM_022144		5	16	0	0	0	0.001984	0	5	16		
TSPAN6	7105	broad.mit.edu	37	X	99888412	99888412	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:99888412A>T	ENST00000373020.4	-	5	686	c.575T>A	c.(574-576)gTa>gAa	p.V192E	TSPAN6_ENST00000496771.1_5'UTR	NM_001278740.1|NM_001278741.1|NM_003270.2	NP_001265669.1|NP_001265670.1|NP_003261.1	O43657	TSN6_HUMAN	tetraspanin 6	192					negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of viral-induced cytoplasmic pattern recognition receptor signaling pathway (GO:0039532)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(3)|large_intestine(6)|ovary(1)	12						TTCATTGTTTACTTTGTCTGC	0.303																																						uc004ega.1		NaN																	0				ovary(1)	1						c.(574-576)GTA>GAA		transmembrane 4 superfamily member 6							73.0	69.0	70.0					X																	99888412		2203	4300	6503	SO:0001583	missense	7105				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity	g.chrX:99888412A>T	AF043906	CCDS14470.1, CCDS76001.1	Xq22	2013-02-14	2005-03-21	2005-03-21	ENSG00000000003	ENSG00000000003		"""Tetraspanins"""	11858	protein-coding gene	gene with protein product		300191	"""transmembrane 4 superfamily member 6"""	TM4SF6		9782095	Standard	NM_003270		Approved	T245, TSPAN-6	uc004ega.1	O43657	OTTHUMG00000022002	ENST00000373020.4:c.575T>A	X.37:g.99888412A>T	ENSP00000362111:p.Val192Glu					TSPAN6_uc010nna.1_Missense_Mutation_p.V98E	p.V192E	NM_003270	NP_003261	O43657	TSN6_HUMAN			5	678	-			192			Extracellular (Potential).		Q54A42|Q6IAN9	Missense_Mutation	SNP	ENST00000373020.4	37	c.575T>A	CCDS14470.1	.	.	.	.	.	.	.	.	.	.	A	14.03	2.415108	0.42817	.	.	ENSG00000000003	ENST00000373020;ENST00000431386	T	0.79749	-1.3	4.96	4.96	0.65561	Tetraspanin, EC2 domain (1);	0.920672	0.09185	U	0.836911	D	0.88592	0.6478	M	0.89095	3.005	0.53688	D	0.999975	P	0.41188	0.741	P	0.52424	0.698	D	0.85596	0.1249	9	.	.	.	.	8.3856	0.32499	0.9039:0.0:0.0961:0.0	.	192	O43657	TSN6_HUMAN	E	192;174	ENSP00000362111:V192E	.	V	-	2	0	TSPAN6	99775068	1.000000	0.71417	0.938000	0.37757	0.199000	0.23934	3.949000	0.56668	1.905000	0.55150	0.486000	0.48141	GTA		0.303	TSPAN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057483.1				14	32	0	0	0	0.004007	0	14	32		
MORC4	79710	broad.mit.edu	37	X	106219839	106219839	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:106219839C>T	ENST00000355610.4	-	9	1406	c.1132G>A	c.(1132-1134)Gac>Aac	p.D378N	MORC4_ENST00000535534.1_Missense_Mutation_p.D126N|MORC4_ENST00000255495.7_Missense_Mutation_p.D378N	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	378						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						TACTCAAAGTCTTGTTTGTTG	0.408																																						uc004emu.3		NaN																	0				ovary(1)	1						c.(1132-1134)GAC>AAC		zinc finger, CW type with coiled-coil domain 2							181.0	160.0	167.0					X																	106219839		2203	4300	6503	SO:0001583	missense	79710						ATP binding|zinc ion binding	g.chrX:106219839C>T	AK021627	CCDS14525.2, CCDS48146.1	Xq22.3	2008-02-05	2005-06-15	2005-06-15	ENSG00000133131	ENSG00000133131			23485	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 2"", ""zinc finger, CW type with coiled-coil domain 2"""	ZCWCC2		14607086	Standard	NM_024657		Approved	ZCW4, FLJ11565	uc004emp.4	Q8TE76	OTTHUMG00000022155	ENST00000355610.4:c.1132G>A	X.37:g.106219839C>T	ENSP00000347821:p.Asp378Asn					MORC4_uc004emp.3_Intron|MORC4_uc004emv.3_Missense_Mutation_p.D378N|MORC4_uc004emw.3_Missense_Mutation_p.D126N	p.D378N	NM_024657	NP_078933	Q8TE76	MORC4_HUMAN			9	1375	-			378					A1YR23|A1YR24|H7BXF1|Q5JUK7|Q96MZ2|Q9HAI7	Missense_Mutation	SNP	ENST00000355610.4	37	c.1132G>A	CCDS14525.2	.	.	.	.	.	.	.	.	.	.	C	29.9	5.047881	0.93740	.	.	ENSG00000133131	ENST00000355610;ENST00000535534;ENST00000255495	T;T;T	0.43294	2.34;0.95;2.33	5.06	5.06	0.68205	.	0.240987	0.41605	D	0.000844	T	0.53562	0.1804	M	0.80982	2.52	0.46113	D	0.998871	P;P;P	0.50066	0.877;0.914;0.931	B;B;P	0.47346	0.411;0.439;0.544	T	0.60969	-0.7157	10	0.52906	T	0.07	-10.6559	15.3777	0.74625	0.0:1.0:0.0:0.0	.	126;378;378	A1YR24;A1YR23;Q8TE76	.;.;MORC4_HUMAN	N	378;126;378	ENSP00000347821:D378N;ENSP00000440359:D126N;ENSP00000255495:D378N	ENSP00000255495:D378N	D	-	1	0	MORC4	106106495	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.473000	0.66774	2.441000	0.82636	0.594000	0.82650	GAC		0.408	MORC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057816.3		NM_024657		13	43	0	0	0	0.003163	0	13	43		
MID2	11043	broad.mit.edu	37	X	107084505	107084505	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:107084505A>G	ENST00000262843.6	+	2	1158	c.610A>G	c.(610-612)Aac>Gac	p.N204D	MID2_ENST00000443968.2_Missense_Mutation_p.N204D	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	204					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						TGAGAAAGTGAACATGTACTG	0.507																																						uc004enl.2		NaN																	0				ovary(1)	1						c.(610-612)AAC>GAC		midline 2 isoform 1							96.0	74.0	82.0					X																	107084505		2203	4300	6503	SO:0001583	missense	11043					centrosome|microtubule	ligase activity|zinc ion binding	g.chrX:107084505A>G		CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.610A>G	X.37:g.107084505A>G	ENSP00000262843:p.Asn204Asp					MID2_uc004enk.2_Missense_Mutation_p.N204D	p.N204D	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN			2	1183	+			204			B box-type 2.		A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Missense_Mutation	SNP	ENST00000262843.6	37	c.610A>G	CCDS14532.2	.	.	.	.	.	.	.	.	.	.	A	17.96	3.515844	0.64634	.	.	ENSG00000080561	ENST00000451923;ENST00000262843;ENST00000443968	T;T;T	0.42131	0.98;0.98;0.98	5.94	5.94	0.96194	Zinc finger, B-box (3);	0.000000	0.85682	D	0.000000	T	0.54398	0.1856	M	0.72624	2.21	0.52501	D	0.999955	B;B	0.33000	0.341;0.393	B;P	0.45660	0.397;0.489	T	0.55224	-0.8174	10	0.45353	T	0.12	.	13.0947	0.59184	1.0:0.0:0.0:0.0	.	204;204	Q9UJV3;Q9UJV3-2	TRIM1_HUMAN;.	D	184;204;204	ENSP00000410730:N184D;ENSP00000262843:N204D;ENSP00000413976:N204D	ENSP00000262843:N204D	N	+	1	0	MID2	106971161	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.962000	0.93254	2.001000	0.58596	0.486000	0.48141	AAC		0.507	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057852.2		NM_012216		25	39	0	0	0	0.00333	0	25	39		
WDR44	54521	broad.mit.edu	37	X	117543582	117543582	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:117543582A>G	ENST00000254029.3	+	11	2059	c.1664A>G	c.(1663-1665)aAt>aGt	p.N555S	WDR44_ENST00000371822.5_Missense_Mutation_p.N530S|WDR44_ENST00000371825.3_Missense_Mutation_p.N555S	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	555						endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						ATGAAATACAATACTGAAGGT	0.348																																						uc004eqn.2		NaN																	0				lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5						c.(1663-1665)AAT>AGT		WD repeat domain 44 protein							74.0	73.0	73.0					X																	117543582		2203	4300	6503	SO:0001583	missense	54521					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm		g.chrX:117543582A>G	AK001978	CCDS14572.1, CCDS55482.1, CCDS55483.1	Xq24	2013-01-09			ENSG00000131725	ENSG00000131725		"""WD repeat domain containing"""	30512	protein-coding gene	gene with protein product						12477932	Standard	NM_019045		Approved	DKFZp686L20145, RPH11, RAB11BP	uc004eqn.3	Q5JSH3	OTTHUMG00000022254	ENST00000254029.3:c.1664A>G	X.37:g.117543582A>G	ENSP00000254029:p.Asn555Ser					WDR44_uc004eqo.2_Missense_Mutation_p.N555S|WDR44_uc011mtr.1_Missense_Mutation_p.N530S|WDR44_uc010nqi.2_Missense_Mutation_p.N265S	p.N555S	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN			11	2089	+			555					B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	Missense_Mutation	SNP	ENST00000254029.3	37	c.1664A>G	CCDS14572.1	.	.	.	.	.	.	.	.	.	.	A	18.39	3.613726	0.66672	.	.	ENSG00000131725	ENST00000371822;ENST00000254029;ENST00000371825	T;T;T	0.75154	-0.91;-0.27;-0.15	5.11	5.11	0.69529	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.73729	0.3624	M	0.62723	1.935	0.80722	D	1	B;B;P;B	0.38729	0.094;0.371;0.644;0.376	B;B;B;B	0.40534	0.113;0.178;0.332;0.223	T	0.75074	-0.3446	10	0.46703	T	0.11	-2.7646	14.0966	0.65027	1.0:0.0:0.0:0.0	.	530;555;555;555	F8W913;E9PCI7;Q5JSH3-2;Q5JSH3	.;.;.;WDR44_HUMAN	S	530;555;555	ENSP00000360887:N530S;ENSP00000254029:N555S;ENSP00000360890:N555S	ENSP00000254029:N555S	N	+	2	0	WDR44	117427610	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.260000	0.95568	1.706000	0.51276	0.341000	0.21757	AAT		0.348	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058001.1		NM_019045		19	41	0	0	0	0.007413	0	19	41		
ZCCHC12	170261	broad.mit.edu	37	X	117960326	117960326	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:117960326G>A	ENST00000310164.2	+	4	1626	c.1119G>A	c.(1117-1119)ttG>ttA	p.L373L		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	373					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						TTGAGAATTTGATCATCACTC	0.502																																						uc004equ.2		NaN																	0				ovary(1)	1						c.(1117-1119)TTG>TTA		zinc finger, CCHC domain containing 12							89.0	79.0	83.0					X																	117960326		2203	4300	6503	SO:0001819	synonymous_variant	170261				regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	g.chrX:117960326G>A	AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"""Zinc fingers, CCHC domain containing"", ""Paraneoplastic Ma antigens"""	27273	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 7A"""	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.1119G>A	X.37:g.117960326G>A							p.L373L	NM_173798	NP_776159	Q6PEW1	ZCH12_HUMAN			4	1592	+			373					B3KV48|Q6PID5|Q8N1C1	Silent	SNP	ENST00000310164.2	37	c.1119G>A	CCDS14574.1																																																																																				0.502	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058014.1		NM_173798		16	26	0	0	0	0.00499	0	16	26		
SASH3	54440	broad.mit.edu	37	X	128922525	128922525	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:128922525T>C	ENST00000356892.3	+	3	386	c.272T>C	c.(271-273)aTg>aCg	p.M91T		NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	91					homeostasis of number of cells within a tissue (GO:0048873)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of organ growth (GO:0046622)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tumor necrosis factor production (GO:0032760)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						ATGGGCAAGATGATGGTGAAG	0.572																																						uc011mun.1		NaN																	0				ovary(2)|pancreas(1)	3						c.(271-273)ATG>ACG		SAM and SH3 domain containing 3							107.0	86.0	93.0					X																	128922525		2203	4300	6503	SO:0001583	missense	54440							g.chrX:128922525T>C	BC051881	CCDS14614.1	Xq26	2013-01-10	2008-02-18	2008-02-18	ENSG00000122122	ENSG00000122122		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	15975	protein-coding gene	gene with protein product		300441	"""chromosome X open reading frame 9"""	CXorf9		11470164	Standard	NM_018990		Approved	SLY, 753P9, SH3D6C, HACS2	uc004euu.3	O75995	OTTHUMG00000022372	ENST00000356892.3:c.272T>C	X.37:g.128922525T>C	ENSP00000349359:p.Met91Thr					SASH3_uc004euu.2_Missense_Mutation_p.M91T|SASH3_uc011muo.1_Missense_Mutation_p.M8T	p.M91T	NM_018990	NP_061863	O75995	SASH3_HUMAN			3	454	+			91					A6NCH1|A8K7K8|Q5JZ38	Missense_Mutation	SNP	ENST00000356892.3	37	c.272T>C	CCDS14614.1	.	.	.	.	.	.	.	.	.	.	T	11.28	1.592192	0.28357	.	.	ENSG00000122122	ENST00000443760;ENST00000356892	T	0.41758	0.99	5.56	2.79	0.32731	.	0.216222	0.53938	D	0.000051	T	0.23133	0.0559	N	0.22421	0.69	0.36879	D	0.889301	B;B	0.13145	0.007;0.0	B;B	0.12837	0.008;0.001	T	0.09618	-1.0666	10	0.34782	T	0.22	-28.8544	3.1111	0.06359	0.3484:0.145:0.0:0.5066	.	59;91	B4DKQ0;O75995	.;SASH3_HUMAN	T	59;91	ENSP00000349359:M91T	ENSP00000349359:M91T	M	+	2	0	SASH3	128750206	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.510000	0.35790	0.728000	0.32382	0.430000	0.28490	ATG		0.572	SASH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058208.1		NM_018990		11	23	0	0	0	0.003163	0	11	23		
MAGEA11	4110	broad.mit.edu	37	X	148797576	148797576	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:148797576G>A	ENST00000355220.5	+	5	532	c.430G>A	c.(430-432)Gag>Aag	p.E144K	MAGEA11_ENST00000333104.4_Missense_Mutation_p.E115K	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	144						cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TCTCCAAGCTGAGGAGCAGGA	0.577																																						uc004fdq.2		NaN																	0				ovary(2)	2						c.(430-432)GAG>AAG		melanoma antigen family A, 11 isoform a							44.0	44.0	44.0					X																	148797576		2203	4300	6503	SO:0001583	missense	4110					cytoplasm|nucleus	protein binding	g.chrX:148797576G>A		CCDS48180.1	Xq28	2009-03-13			ENSG00000185247	ENSG00000185247			6798	protein-coding gene	gene with protein product	"""MAGE-11 antigen"", ""melanoma-associated antigen 11"", ""cancer/testis antigen family 1, member 11"""	300344		MAGE11		8575766	Standard	NM_001011544		Approved	MAGE-11, MAGEA-11, MGC10511, CT1.11	uc004fdq.3	P43364	OTTHUMG00000022633	ENST00000355220.5:c.430G>A	X.37:g.148797576G>A	ENSP00000347358:p.Glu144Lys					HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Missense_Mutation_p.E115K	p.E144K	NM_005366	NP_005357	P43364	MAGAB_HUMAN			5	532	+	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		144					Q5ETU4|Q6ZRZ5	Missense_Mutation	SNP	ENST00000355220.5	37	c.430G>A	CCDS48180.1	.	.	.	.	.	.	.	.	.	.	N	11.26	1.584950	0.28268	.	.	ENSG00000185247	ENST00000412632;ENST00000333104;ENST00000355220	T;T;T	0.07021	3.23;3.23;3.23	0.871	-0.159	0.13379	Melanoma associated antigen, MAGE, N-terminal (1);	.	.	.	.	T	0.26629	0.0651	M	0.88031	2.925	0.09310	N	1	D;D	0.58970	0.984;0.977	D;D	0.66716	0.915;0.946	T	0.06006	-1.0851	8	0.39692	T	0.17	.	.	.	.	.	115;144	G5E962;P43364	.;MAGAB_HUMAN	K	115;115;144	ENSP00000391496:E115K;ENSP00000328177:E115K;ENSP00000347358:E144K	ENSP00000328177:E115K	E	+	1	0	MAGEA11	148576829	0.002000	0.14202	0.014000	0.15608	0.005000	0.04900	0.167000	0.16602	-0.120000	0.11809	-0.563000	0.04171	GAG		0.577	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058725.4		NM_005366		10	28	0	0	0	0.008291	0	10	28		
INSRR	3645	broad.mit.edu	37	1	156818798	156818798	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:156818798delC	ENST00000368195.3	-	7	1882	c.1486delG	c.(1486-1488)gcafs	p.A496fs	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	496	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ATGCGGTCTGCCTCCGTCACG	0.682																																						uc010pht.1		NaN																	0				lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20						c.(1486-1488)GCAfs		insulin receptor-related receptor precursor							25.0	27.0	26.0					1																	156818798		2203	4300	6503	SO:0001589	frameshift_variant	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156818798delC	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.1486delG	1.37:g.156818798delC	ENSP00000357178:p.Ala496fs					NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	p.A496fs	NM_014215	NP_055030	P14616	INSRR_HUMAN			7	1740	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		496			Fibronectin type-III 1.		O60724|Q5VZS3	Frame_Shift_Del	DEL	ENST00000368195.3	37	c.1486delG	CCDS1160.1																																																																																				0.682	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1		NM_014215		22	26	NaN	NaN	NaN	NaN	NaN	22	26	---	---
CCNY	219771	broad.mit.edu	37	10	35842099	35842100	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:35842099_35842100delCA	ENST00000374704.4	+	8	912_913	c.732_733delCA	c.(730-735)atcacgfs	p.T245fs	CCNY_ENST00000265375.9_Frame_Shift_Del_p.T191fs|CCNY_ENST00000374706.1_Frame_Shift_Del_p.T191fs|CCNY_ENST00000492478.1_3'UTR|CCNY_ENST00000339497.5_Frame_Shift_Del_p.T220fs	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN	cyclin Y	245	Cyclin N-terminal.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						TGAAAGACATCACGGTGGAGGA	0.515																																						uc001iyw.3		NaN																	0					0						c.(730-735)ATCACGfs		cyclin Y isoform 1																																				SO:0001589	frameshift_variant	219771				cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding	g.chr10:35842099_35842100delCA	AF413522, AY504868	CCDS7189.1, CCDS7190.1, CCDS60513.1	10p11.22	2011-01-25	2007-02-09	2007-02-09	ENSG00000108100	ENSG00000108100			23354	protein-coding gene	gene with protein product		612786	"""chromosome 10 open reading frame 9"""	C10orf9		20441050	Standard	XM_005252388		Approved	CFP1, CBCP1	uc001iyw.4	Q8ND76	OTTHUMG00000017955	ENST00000374704.4:c.732_733delCA	10.37:g.35842099_35842100delCA	ENSP00000363836:p.Thr245fs					CCNY_uc001iyu.3_Frame_Shift_Del_p.I190fs|CCNY_uc001iyv.3_Frame_Shift_Del_p.I190fs|CCNY_uc001iyx.3_Frame_Shift_Del_p.I190fs|CCNY_uc009xmb.2_Frame_Shift_Del_p.I219fs|CCNY_uc010qet.1_Frame_Shift_Del_p.I111fs	p.I244fs	NM_145012	NP_659449	Q8ND76	CCNY_HUMAN			8	912_913	+			244_245			Cyclin N-terminal.		B7ZKX9|D3DRY9|Q2M3V4|Q2TU96|Q6NT86|Q7Z4U7|Q8TEX2|Q8TEX3|Q96M99|Q96P45	Frame_Shift_Del	DEL	ENST00000374704.4	37	c.732_733delCA	CCDS7189.1																																																																																				0.515	CCNY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047568.2		NM_181698		23	58	NaN	NaN	NaN	NaN	NaN	23	58	---	---
P4HA1	5033	broad.mit.edu	37	10	74813169	74813169	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:74813169delC	ENST00000307116.2	-	6	759	c.643delG	c.(643-645)gtafs	p.V215fs	P4HA1_ENST00000373008.2_Frame_Shift_Del_p.V215fs|P4HA1_ENST00000263556.3_Frame_Shift_Del_p.V215fs|P4HA1_ENST00000394890.2_Frame_Shift_Del_p.V215fs|P4HA1_ENST00000440381.1_Frame_Shift_Del_p.V215fs|P4HA1_ENST00000412021.2_Frame_Shift_Del_p.V215fs			P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	215					collagen fibril organization (GO:0030199)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|procollagen-proline 4-dioxygenase complex (GO:0016222)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGCTGATATACCGCATAGCTC	0.413																																					Colon(147;367 2405 2662 52127)	uc010qka.1		NaN																	0				ovary(1)	1						c.(643-645)GTAfs		prolyl 4-hydroxylase, alpha I subunit isoform 2	Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						135.0	132.0	133.0					10																	74813169		2203	4300	6503	SO:0001589	frameshift_variant	5033					endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity	g.chr10:74813169delC		CCDS7320.1, CCDS41537.1, CCDS44432.1	10q21.3-q23.1	2008-12-09	2008-12-09		ENSG00000122884	ENSG00000122884	1.14.11.2		8546	protein-coding gene	gene with protein product	"""collagen prolyl 4-hydroxylase alpha(I)"""	176710	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I"""	P4HA		2556027	Standard	NM_001017962		Approved	C-P4Halpha(I)	uc001jtg.3	P13674	OTTHUMG00000018449	ENST00000307116.2:c.643delG	10.37:g.74813169delC	ENSP00000307318:p.Val215fs					P4HA1_uc001jtg.2_Frame_Shift_Del_p.V215fs|P4HA1_uc001jth.2_Frame_Shift_Del_p.V215fs|P4HA1_uc010qkb.1_Frame_Shift_Del_p.V215fs|P4HA1_uc001jti.2_RNA	p.V215fs	NM_001142595	NP_001136067	P13674	P4HA1_HUMAN			7	977	-	Prostate(51;0.0198)		215			TPR.		C9JL12|Q15082|Q15083|Q5VSQ5	Frame_Shift_Del	DEL	ENST00000307116.2	37	c.643delG																																																																																					0.413	P4HA1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000048601.1		NM_000917		14	68	NaN	NaN	NaN	NaN	NaN	14	68	---	---
KMT2A	4297	broad.mit.edu	37	11	118359411	118359411	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08			A	-	A	A		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:118359411delA	ENST00000389506.5	+	11	4415	c.4415delA	c.(4414-4416)gaafs	p.E1472fs	KMT2A_ENST00000354520.4_Frame_Shift_Del_p.E1434fs|KMT2A_ENST00000534358.1_Frame_Shift_Del_p.E1472fs			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1472					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										GACCAGCTGGAAAATTGGTGT	0.463																																						uc001pta.2		NaN								T|O					MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL		0				lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25						c.(4414-4416)GAAfs		myeloid/lymphoid or mixed-lineage leukemia							122.0	107.0	112.0					11																	118359411		2200	4296	6496	SO:0001589	frameshift_variant	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118359411delA	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.4415delA	11.37:g.118359411delA	ENSP00000374157:p.Glu1472fs					MLL_uc001ptb.2_Frame_Shift_Del_p.E1472fs|MLL_uc001pte.1_RNA	p.E1472fs	NM_005933	NP_005924	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	11	4438	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	1472			PHD-type 1.		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Frame_Shift_Del	DEL	ENST00000389506.5	37	c.4415delA	CCDS31686.1																																																																																				0.463	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2		NM_005933		24	28	NaN	NaN	NaN	NaN	NaN	24	28	---	---
NTS	4922	broad.mit.edu	37	12	86276100	86276112	+	Frame_Shift_Del	DEL	GAGAATAAACCCA	GAGAATAAACCCA	-			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:86276100_86276112delGAGAATAAACCCA	ENST00000256010.6	+	4	567_579	c.460_472delGAGAATAAACCCA	c.(460-474)gagaataaacccagafs	p.ENKPR154fs	NTS_ENST00000551529.1_Frame_Shift_Del_p.ENKPR79fs	NM_006183.4	NP_006174.1	P30990	NEUT_HUMAN	neurotensin	154					regulation of blood vessel size (GO:0050880)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)		p.E154D(1)		large_intestine(2)|lung(6)	8						GCAGCTGTATGAGAATAAACCCAGAAGACCCTA	0.31																																						uc001tag.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(460-474)GAGAATAAACCCAGAfs		neurotensin/neuromedin N preproprotein																																				SO:0001589	frameshift_variant	4922				regulation of blood vessel size|signal transduction	extracellular region|soluble fraction|transport vesicle	neuropeptide hormone activity	g.chr12:86276100_86276112delGAGAATAAACCCA		CCDS9029.1	12q21.31	2013-02-26			ENSG00000133636	ENSG00000133636		"""Endogenous ligands"""	8038	protein-coding gene	gene with protein product	"""neuromedin N"", ""pro-neurotensin/neuromedin"""	162650					Standard	NM_006183		Approved		uc001tag.3	P30990	OTTHUMG00000169832	ENST00000256010.6:c.460_472delGAGAATAAACCCA	12.37:g.86276100_86276112delGAGAATAAACCCA	ENSP00000256010:p.Glu154fs						p.E154fs	NM_006183	NP_006174	P30990	NEUT_HUMAN			4	567_579	+			154_158						Frame_Shift_Del	DEL	ENST00000256010.6	37	c.460_472delGAGAATAAACCCA	CCDS9029.1																																																																																				0.310	NTS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406111.2				10	86	NaN	NaN	NaN	NaN	NaN	10	86	---	---
EFCAB5	374786	broad.mit.edu	37	17	28384744	28384759	+	Frame_Shift_Del	DEL	AGAACTGCCTTCAATG	AGAACTGCCTTCAATG	-	rs547785705|rs552625973		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:28384744_28384759delAGAACTGCCTTCAATG	ENST00000394835.3	+	13	2608_2623	c.2416_2431delAGAACTGCCTTCAATG	c.(2416-2433)agaactgccttcaatggafs	p.RTAFNG806fs	EFCAB5_ENST00000536908.2_Frame_Shift_Del_p.RTAFNG750fs|EFCAB5_ENST00000378738.3_Frame_Shift_Del_p.RTAFNG806fs|EFCAB5_ENST00000541045.1_Frame_Shift_Del_p.RTAFNG463fs|RNY4P13_ENST00000384284.1_RNA|EFCAB5_ENST00000394832.2_Frame_Shift_Del_p.RTAFNG806fs|EFCAB5_ENST00000320856.5_Intron|AC104984.4_ENST00000583250.1_RNA	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	806							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GGTAAAAGGCAGAACTGCCTTCAATGGAGTTTCATT	0.403																																						uc002het.2		NaN																	0				ovary(1)|skin(1)	2						c.(2416-2433)AGAACTGCCTTCAATGGAfs		EF-hand calcium binding domain 5 isoform a																																				SO:0001589	frameshift_variant	374786						calcium ion binding	g.chr17:28384744_28384759delAGAACTGCCTTCAATG	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.2416_2431delAGAACTGCCTTCAATG	17.37:g.28384744_28384759delAGAACTGCCTTCAATG	ENSP00000378312:p.Arg806fs					EFCAB5_uc010wbj.1_Frame_Shift_Del_p.R750fs|EFCAB5_uc010wbk.1_Frame_Shift_Del_p.R463fs|EFCAB5_uc010csd.2_RNA|EFCAB5_uc010cse.2_Intron|EFCAB5_uc010csf.2_Frame_Shift_Del_p.R685fs	p.R806fs	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN			13	2608_2623	+			806_811					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Frame_Shift_Del	DEL	ENST00000394835.3	37	c.2416_2431delAGAACTGCCTTCAATG	CCDS11254.2																																																																																				0.403	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4		NM_198529		10	58	NaN	NaN	NaN	NaN	NaN	10	58	---	---
SOCS7	30837	broad.mit.edu	37	17	36551570	36551570	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:36551570delC	ENST00000577233.1	+	8	1498	c.1498delC	c.(1498-1500)ccafs	p.P500fs	SOCS7_ENST00000331159.5_Frame_Shift_Del_p.P466fs	NM_014598.2	NP_055413.1	O14512	SOCS7_HUMAN	suppressor of cytokine signaling 7	500	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				fat cell differentiation (GO:0045444)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of signal transduction (GO:0009968)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5)	9	Breast(7;3.47e-17)					AGGACTGCCACCAACTCCTGT	0.468																																						uc002hqa.2		NaN																	0				skin(1)	1						c.(1498-1500)CCAfs		suppressor of cytokine signaling 7							94.0	83.0	87.0					17																	36551570		2203	4300	6503	SO:0001589	frameshift_variant	30837				intracellular signal transduction|negative regulation of signal transduction|regulation of growth	cytoplasm|nucleus|plasma membrane	protein binding|SH3 domain binding	g.chr17:36551570delC	AB005216	CCDS32637.1	17q12	2014-08-12			ENSG00000274211	ENSG00000274211		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	29846	protein-coding gene	gene with protein product	"""Nck, Ash and phospholipase C binding protein"", ""NCK-associated protein 4"""	608788				9344857, 12076535	Standard	XM_005257264		Approved	NAP4, NCKAP4	uc002hqa.3	O14512	OTTHUMG00000188546	ENST00000577233.1:c.1498delC	17.37:g.36551570delC	ENSP00000464034:p.Pro500fs					SOCS7_uc010cvl.2_Frame_Shift_Del_p.P466fs|SOCS7_uc002hqb.2_Intron	p.P500fs	NM_014598	NP_055413	O14512	SOCS7_HUMAN			8	1621	+	Breast(7;3.47e-17)		500			SH2.		A2VCU2|Q0IJ63	Frame_Shift_Del	DEL	ENST00000577233.1	37	c.1498delC	CCDS32637.1																																																																																				0.468	SOCS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440486.4		XM_371052		13	31	NaN	NaN	NaN	NaN	NaN	13	31	---	---
ITGA2B	3674	broad.mit.edu	37	17	42462950	42462957	+	Frame_Shift_Del	DEL	GGTGTTCC	GGTGTTCC	-	rs368659500		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:42462950_42462957delGGTGTTCC	ENST00000262407.5	-	4	567_574	c.536_543delGGAACACC	c.(535-543)gggaacaccfs	p.GNT179fs	ITGA2B_ENST00000377068.3_5'Flank|ITGA2B_ENST00000353281.4_Frame_Shift_Del_p.GNT179fs	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	179					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	TGCGGCTCAGGGTGTTCCCGCGACAGGG	0.635																																						uc002igt.1		NaN																	0				ovary(2)|lung(1)	3	GRCh37	CD083325	ITGA2B	D		c.(535-543)GGGAACACCfs		integrin alpha 2b preproprotein	Tirofiban(DB00775)																																			SO:0001589	frameshift_variant	3674				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	g.chr17:42462950_42462957delGGTGTTCC		CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"""CD molecules"", ""Integrins"""	6138	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 93"""	607759	"""integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"""	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.536_543delGGAACACC	17.37:g.42462950_42462957delGGTGTTCC	ENSP00000262407:p.Gly179fs						p.G179fs	NM_000419	NP_000410	P08514	ITA2B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.191)	4	568_575	-		Prostate(33;0.0181)	179_181			Extracellular (Potential).		B2RCY8|O95366|Q14443|Q17R67	Frame_Shift_Del	DEL	ENST00000262407.5	37	c.536_543delGGAACACC	CCDS32665.1																																																																																				0.635	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1				7	8	NaN	NaN	NaN	NaN	NaN	7	8	---	---
SYDE1	85360	broad.mit.edu	37	19	15223296	15223296	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:15223296delC	ENST00000342784.2	+	7	1749	c.1718delC	c.(1717-1719)gccfs	p.A573fs	SYDE1_ENST00000600252.1_Frame_Shift_Del_p.A230fs|SYDE1_ENST00000600440.1_Frame_Shift_Del_p.A506fs	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	573	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				activation of Rho GTPase activity (GO:0032862)|positive regulation of synaptic transmission (GO:0050806)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptonemal complex assembly (GO:0007130)	cerebellar mossy fiber (GO:0044300)|cytosol (GO:0005829)|synaptic membrane (GO:0097060)	Rho GTPase activator activity (GO:0005100)			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						AGGCCTCGTGCCCGCAGCTCC	0.647																																						uc002nah.1		NaN																	0				ovary(1)|pancreas(1)	2						c.(1717-1719)GCCfs		synapse defective 1, Rho GTPase, homolog 1							38.0	31.0	33.0					19																	15223296		2203	4300	6503	SO:0001589	frameshift_variant	85360				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	g.chr19:15223296delC	BC029926	CCDS12324.1, CCDS74299.1	19p13.12	2008-02-05				ENSG00000105137			25824	protein-coding gene	gene with protein product						12477932	Standard	XM_005260126		Approved	7h3, FLJ13511	uc002nah.1	Q6ZW31		ENST00000342784.2:c.1718delC	19.37:g.15223296delC	ENSP00000341489:p.Ala573fs					SYDE1_uc002nai.1_Frame_Shift_Del_p.A506fs|SYDE1_uc002naj.1_Frame_Shift_Del_p.A230fs	p.A573fs	NM_033025	NP_149014	Q6ZW31	SYDE1_HUMAN			7	1749	+			573			Rho-GAP.		Q7L2I8|Q8N6J2|Q9H8K4	Frame_Shift_Del	DEL	ENST00000342784.2	37	c.1718delC	CCDS12324.1																																																																																				0.647	SYDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465666.1		NM_033025		12	14	NaN	NaN	NaN	NaN	NaN	12	14	---	---
HNRNPUL1	11100	broad.mit.edu	37	19	41808719	41808745	+	In_Frame_Del	DEL	GGTGGTGGTGGCTTCCGGGGCCGCGGG	GGTGGTGGTGGCTTCCGGGGCCGCGGG	-	rs567506607		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:41808719_41808745delGGTGGTGGTGGCTTCCGGGGCCGCGGG	ENST00000392006.3	+	12	2010_2036	c.1837_1863delGGTGGTGGTGGCTTCCGGGGCCGCGGG	c.(1837-1863)ggtggtggtggcttccggggccgcgggdel	p.GGGGFRGRG613del	HNRNPUL1_ENST00000263367.3_In_Frame_Del_p.GGGGFRGRG524del|HNRNPUL1_ENST00000593587.1_In_Frame_Del_p.GGGGFRGRG513del|HNRNPUL1_ENST00000595018.1_In_Frame_Del_p.GGGGFRGRG513del|HNRNPUL1_ENST00000378215.4_In_Frame_Del_p.GGGGFRGRG499del|HNRNPUL1_ENST00000352456.3_In_Frame_Del_p.GGGGFRGRG513del|HNRNPUL1_ENST00000602130.1_In_Frame_Del_p.GGGGFRGRG613del	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	613	5 X 3 AA repeats of R-G-G.|Gly-rich.|Necessary for interaction with TP53.|Necessary for transcription repression.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						TGACAACCGAGGTGGTGGTGGCTTCCGGGGCCGCGGGGGTGGTGGTG	0.652																																						uc002oqb.3		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(1837-1863)GGTGGTGGTGGCTTCCGGGGCCGCGGGdel		heterogeneous nuclear ribonucleoprotein U-like 1																																				SO:0001651	inframe_deletion	11100				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding	g.chr19:41808719_41808745delGGTGGTGGTGGCTTCCGGGGCCGCGGG	AJ007509	CCDS12576.1, CCDS12577.1	19q13.2	2013-06-12		2008-04-18	ENSG00000105323	ENSG00000105323			17011	protein-coding gene	gene with protein product	"""E1B 55kDa associated protein 5"""	605800		HNRPUL1		9733834, 12489984	Standard	XM_005258459		Approved	E1B-AP5, E1BAP5, FLJ12944	uc002oqb.4	Q9BUJ2	OTTHUMG00000182740	ENST00000392006.3:c.1837_1863delGGTGGTGGTGGCTTCCGGGGCCGCGGG	19.37:g.41808719_41808745delGGTGGTGGTGGCTTCCGGGGCCGCGGG	ENSP00000375863:p.Gly613_Gly621del					CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_In_Frame_Del_p.GGGGFRGRG513del|HNRNPUL1_uc002oqa.3_In_Frame_Del_p.GGGGFRGRG513del|HNRNPUL1_uc010ehm.2_In_Frame_Del_p.GGGGFRGRG613del|HNRNPUL1_uc002oqc.3_In_Frame_Del_p.GGGGFRGRG499del|HNRNPUL1_uc002oqe.3_Intron|HNRNPUL1_uc002oqd.3_In_Frame_Del_p.GGGGFRGRG513del|HNRNPUL1_uc010ehn.2_In_Frame_Del_p.GGGGFRGRG513del|HNRNPUL1_uc010eho.2_In_Frame_Del_p.GGGGFRGRG513del|HNRNPUL1_uc010xvy.1_In_Frame_Del_p.GGGGFRGRG513del|HNRNPUL1_uc010ehp.2_In_Frame_Del_p.GGGGFRGRG469del|HNRNPUL1_uc002oqf.3_In_Frame_Del_p.GGGGFRGRG137del	p.GGGGFRGRG613del	NM_007040	NP_008971	Q9BUJ2	HNRL1_HUMAN			12	2126_2152	+			613_621			Necessary for transcription repression.|Necessary for interaction with TP53.|Gly-rich.|1-2.|5 X 3 AA repeats of R-G-G.		B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	In_Frame_Del	DEL	ENST00000392006.3	37	c.1837_1863delGGTGGTGGTGGCTTCCGGGGCCGCGGG	CCDS12576.1																																																																																				0.652	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463406.1		NM_144732, NM_007040		10	47	NaN	NaN	NaN	NaN	NaN	10	47	---	---
ZNF513	130557	broad.mit.edu	37	2	27601758	27601758	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:27601758delC	ENST00000323703.6	-	3	573	c.375delG	c.(373-375)gggfs	p.G125fs	ZNF513_ENST00000491924.1_5'UTR|ZNF513_ENST00000407879.1_Frame_Shift_Del_p.G63fs	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	125	Gly-rich.				regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCTGTCGGCCCCCCACACA	0.706																																						uc002rkk.2		NaN																	0				ovary(1)	1						c.(373-375)GGGfs		zinc finger protein 513							8.0	10.0	9.0					2																	27601758		2172	4270	6442	SO:0001589	frameshift_variant	130557				regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr2:27601758delC	AL833946	CCDS1751.1, CCDS56114.1	2p23.3	2014-01-28			ENSG00000163795	ENSG00000163795		"""Zinc fingers, C2H2-type"""	26498	protein-coding gene	gene with protein product		613598				12477932	Standard	NM_001201459		Approved	FLJ32203, RP58	uc002rkk.3	Q8N8E2	OTTHUMG00000097783	ENST00000323703.6:c.375delG	2.37:g.27601758delC	ENSP00000318373:p.Gly125fs					ZNF513_uc002rkj.2_Frame_Shift_Del_p.G63fs	p.G125fs	NM_144631	NP_653232	Q8N8E2	ZN513_HUMAN			3	575	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		125			Gly-rich.		A8K3S5|B7WP71|Q3ZCU1|Q68CJ1|Q86UZ3|Q8NDL8|Q96ML3	Frame_Shift_Del	DEL	ENST00000323703.6	37	c.375delG	CCDS1751.1																																																																																				0.706	ZNF513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215026.2		NM_144631		6	9	NaN	NaN	NaN	NaN	NaN	6	9	---	---
COL6A3	1293	broad.mit.edu	37	2	238277474	238277475	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:238277474_238277475delCA	ENST00000295550.4	-	10	5083_5084	c.4631_4632delTG	c.(4630-4632)ctgfs	p.L1544fs	COL6A3_ENST00000353578.4_Frame_Shift_Del_p.L1338fs|COL6A3_ENST00000347401.3_Frame_Shift_Del_p.L1343fs|COL6A3_ENST00000346358.4_Frame_Shift_Del_p.L1344fs|COL6A3_ENST00000472056.1_Frame_Shift_Del_p.L937fs|COL6A3_ENST00000409809.1_Frame_Shift_Del_p.L1338fs	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1544	Nonhelical region.|VWFA 8. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGACCAGGACCAGGTGTTGGGG	0.569																																						uc002vwl.2		NaN																	0				ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(4630-4632)CTGfs		alpha 3 type VI collagen isoform 1 precursor																																				SO:0001589	frameshift_variant	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238277474_238277475delCA	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.4631_4632delTG	2.37:g.238277474_238277475delCA	ENSP00000295550:p.Leu1544fs					COL6A3_uc002vwo.2_Frame_Shift_Del_p.L1338fs|COL6A3_uc010znj.1_Frame_Shift_Del_p.L937fs	p.L1544fs	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	10	4916_4917	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1544			VWFA 8.|Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Frame_Shift_Del	DEL	ENST00000295550.4	37	c.4631_4632delTG	CCDS33412.1																																																																																				0.569	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2		NM_004369		23	125	NaN	NaN	NaN	NaN	NaN	23	125	---	---
RTCB	51493	broad.mit.edu	37	22	32797844	32797858	+	In_Frame_Del	DEL	GGTTCTTAGCAAGCG	GGTTCTTAGCAAGCG	-			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr22:32797844_32797858delGGTTCTTAGCAAGCG	ENST00000216038.5	-	5	471_485	c.373_387delCGCTTGCTAAGAACC	c.(373-387)cgcttgctaagaaccdel	p.RLLRT125del	RTCB_ENST00000476619.1_5'UTR|RTCB_ENST00000451746.2_In_Frame_Del_p.RLLRT125del	NM_014306.4	NP_055121.1			RNA 2',3'-cyclic phosphate and 5'-OH ligase																		CATCTAAATTGGTTCTTAGCAAGCGGACACCACAG	0.465																																						uc003amm.2		NaN																	0					0						c.(373-387)CGCTTGCTAAGAACCdel		hypothetical protein LOC51493																																				SO:0001651	inframe_deletion	51493				cell-matrix adhesion|substrate adhesion-dependent cell spreading|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|tRNA-splicing ligase complex	ATP binding|metal ion binding|RNA ligase (ATP) activity|vinculin binding	g.chr22:32797844_32797858delGGTTCTTAGCAAGCG	BC016707	CCDS13905.1	22q12.3	2013-05-22	2013-05-22	2013-05-22	ENSG00000100220	ENSG00000100220	6.5.1.3		26935	protein-coding gene	gene with protein product	"""focal adhesion-associated protein"""	613901	"""chromosome 22 open reading frame 28"""	C22orf28		11042152, 21209330, 21311021	Standard	NM_014306		Approved	HSPC117, FAAP		Q9Y3I0	OTTHUMG00000030300	ENST00000216038.5:c.373_387delCGCTTGCTAAGAACC	22.37:g.32797844_32797858delGGTTCTTAGCAAGCG	ENSP00000216038:p.Arg125_Thr129del					C22orf28_uc011ama.1_RNA	p.RLLRT125del	NM_014306	NP_055121	Q9Y3I0	RTCB_HUMAN			5	504_518	-			125_129						In_Frame_Del	DEL	ENST00000216038.5	37	c.373_387delCGCTTGCTAAGAACC	CCDS13905.1																																																																																				0.465	RTCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075188.3		NM_014306		10	36	NaN	NaN	NaN	NaN	NaN	10	36	---	---
PLXNB2	23654	broad.mit.edu	37	22	50719219	50719220	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr22:50719219_50719220insG	ENST00000449103.1	-	24	4086_4087	c.3946_3947insC	c.(3946-3948)ctcfs	p.L1316fs	PLXNB2_ENST00000359337.4_Frame_Shift_Ins_p.L1316fs|PLXNB2_ENST00000496720.1_5'Flank			O15031	PLXB2_HUMAN	plexin B2	1316					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GAACTGGTAGAGGGCCTGCTCC	0.653																																						uc003bkv.3		NaN																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(3946-3948)CTCfs		plexin B2 precursor																																				SO:0001589	frameshift_variant	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50719219_50719220insG		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.3947dupC	22.37:g.50719222_50719222dupG	ENSP00000409171:p.Leu1316fs					PLXNB2_uc003bkt.1_Frame_Shift_Ins_p.L108fs|PLXNB2_uc003bku.1_Frame_Shift_Ins_p.L301fs	p.L1316fs	NM_012401	NP_036533	O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	24	4052_4053	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1316			Cytoplasmic (Potential).		A6QRH0|Q7KZU3|Q9BSU7	Frame_Shift_Ins	INS	ENST00000449103.1	37	c.3946_3947insC	CCDS43035.1																																																																																				0.653	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3		NM_012401		9	36	NaN	NaN	NaN	NaN	NaN	9	36	---	---
ULK4	54986	broad.mit.edu	37	3	41860995	41860995	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:41860995delC	ENST00000301831.4	-	19	2230	c.1768delG	c.(1768-1770)gaafs	p.E590fs		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	590					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TTTTTTTTTTCTTCCTAAAAT	0.438																																						uc003ckv.3		NaN																	0					0						c.(1768-1770)GAAfs		unc-51-like kinase 4							55.0	56.0	56.0					3																	41860995		1853	4088	5941	SO:0001589	frameshift_variant	54986						ATP binding|protein serine/threonine kinase activity	g.chr3:41860995delC	AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"""unc-51-like kinase 4 (C. elegans)"""			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.1768delG	3.37:g.41860995delC	ENSP00000301831:p.Glu590fs					ULK4_uc003ckw.2_Frame_Shift_Del_p.E590fs	p.E590fs	NM_017886	NP_060356	Q96C45	ULK4_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	19	1969	-			590					A6NF15|Q8IW79|Q9NWV6|Q9UF96	Frame_Shift_Del	DEL	ENST00000301831.4	37	c.1768delG	CCDS43071.1																																																																																				0.438	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1		XM_929989		24	82	NaN	NaN	NaN	NaN	NaN	24	82	---	---
MINA	84864	broad.mit.edu	37	3	97686358	97686359	+	In_Frame_Ins	INS	-	-	CTGCTT			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:97686358_97686359insCTGCTT	ENST00000333396.7	-	2	661_662	c.79_80insAAGCAG	c.(79-81)gct>gAAGCAGct	p.26_27insEA	MINA_ENST00000360258.4_In_Frame_Ins_p.26_27insEA|MINA_ENST00000394198.2_In_Frame_Ins_p.26_27insEA|MINA_ENST00000330299.2_In_Frame_Ins_p.26_27insEA	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						AGGCCCCCCAGCTGCTTCTAAC	0.48																																						uc003drz.1		NaN																	0				ovary(1)	1						c.(79-81)GCT>GAAGCAGCT		MYC induced nuclear antigen isoform a																																				SO:0001652	inframe_insertion	84864				ribosome biogenesis	cytoplasm|nucleolus		g.chr3:97686358_97686359insCTGCTT	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.74_79dupAAGCAG	3.37:g.97686359_97686364dupCTGCTT	ENSP00000328251:p.Glu25_Ala26dup					MINA_uc003dsa.1_In_Frame_Ins_p.26_27insEA|MINA_uc003dsb.1_In_Frame_Ins_p.26_27insEA|MINA_uc003dsc.1_In_Frame_Ins_p.26_27insEA|MINA_uc010hpa.1_RNA|MINA_uc010hpb.1_Intron	p.26_27insEA	NM_001042533	NP_001035998	Q8IUF8	MINA_HUMAN			2	585_586	-			26_27						In_Frame_Ins	INS	ENST00000333396.7	37	c.79_80insAAGCAG	CCDS43114.1																																																																																				0.480	MINA-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359244.3		NM_032778		9	73	NaN	NaN	NaN	NaN	NaN	9	73	---	---
NFE2L3	9603	broad.mit.edu	37	7	26223328	26223340	+	Frame_Shift_Del	DEL	TGAATGGGACAGA	TGAATGGGACAGA	-	rs150480522		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:26223328_26223340delTGAATGGGACAGA	ENST00000056233.3	+	3	1017_1029	c.758_770delTGAATGGGACAGA	c.(757-771)ctgaatgggacagatfs	p.LNGTD253fs		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	253					transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						CAGAGACATCTGAATGGGACAGATACTTCTTTC	0.394																																						uc003sxq.2		NaN																	0				skin(3)|ovary(1)	4						c.(757-771)CTGAATGGGACAGATfs		nuclear factor erythroid 2-like 3																																				SO:0001589	frameshift_variant	9603				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr7:26223328_26223340delTGAATGGGACAGA	AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"""basic leucine zipper proteins"""	7783	protein-coding gene	gene with protein product		604135	"""nuclear factor (erythroid-derived 2)-like 3"""			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.758_770delTGAATGGGACAGA	7.37:g.26223328_26223340delTGAATGGGACAGA	ENSP00000056233:p.Leu253fs						p.L253fs	NM_004289	NP_004280	Q9Y4A8	NF2L3_HUMAN			3	1030_1042	+			253_257					Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Frame_Shift_Del	DEL	ENST00000056233.3	37	c.758_770delTGAATGGGACAGA	CCDS5396.1																																																																																				0.394	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1				11	69	NaN	NaN	NaN	NaN	NaN	11	69	---	---
SFRP4	6424	broad.mit.edu	37	7	37947153	37947153	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:37947153delG	ENST00000436072.2	-	6	1346	c.969delC	c.(967-969)cccfs	p.P323fs	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	323					brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TGGCTGGTTTGGGAGCAGGAG	0.512																																						uc003tfo.3		NaN																	0				lung(1)	1						c.(967-969)CCCfs		secreted frizzled-related  protein 4 precursor							147.0	144.0	145.0					7																	37947153		2203	4300	6503	SO:0001589	frameshift_variant	6424				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr7:37947153delG	AF026692	CCDS5453.1	7p14.1	2008-07-18			ENSG00000106483	ENSG00000106483		"""Secreted frizzled-related proteins"""	10778	protein-coding gene	gene with protein product		606570				10211996	Standard	NM_003014		Approved	frpHE, FRP-4, FRPHE	uc003tfo.4	Q6FHJ7	OTTHUMG00000023026	ENST00000436072.2:c.969delC	7.37:g.37947153delG	ENSP00000410715:p.Pro323fs						p.P323fs	NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN			6	1355	-			323					B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Frame_Shift_Del	DEL	ENST00000436072.2	37	c.969delC	CCDS5453.1																																																																																				0.512	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220017.2		NM_003014		45	121	NaN	NaN	NaN	NaN	NaN	45	121	---	---
USP9X	8239	broad.mit.edu	37	X	41047370	41047371	+	Splice_Site	INS	-	-	GT			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:41047370_41047371insGT	ENST00000324545.8	+	25	4443	c.3810_3810insGT	c.(3811-3813)acc>acGTc	p.T1271fs	USP9X_ENST00000378308.2_Splice_Site_p.T1271fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1271					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TTTATGAGAAGGTAAGAATTAT	0.297																																					Ovarian(172;1807 2695 35459 49286)	uc004dfb.2		NaN																	0				lung(3)|breast(2)|ovary(1)	6						c.e25+1		ubiquitin specific protease 9, X-linked isoform																																				SO:0001630	splice_region_variant	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41047370_41047371insGT	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.3810+1->GT	X.37:g.41047371_41047372dupGT						USP9X_uc004dfc.2_Splice_Site_p.K1270_splice	p.K1270_splice	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN			25	4443	+								O75550|Q8WWT3|Q8WX12	Splice_Site	INS	ENST00000324545.8	37	c.3810_splice	CCDS43930.1																																																																																				0.297	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4		NM_004652	Frame_Shift_Ins	19	15	NaN	NaN	NaN	NaN	NaN	19	15	---	---
