#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
NADK	65220	broad.mit.edu	37	1	1685647	1685647	+	Splice_Site	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:1685647C>T	ENST00000341426.5	-	10	1165	c.944G>A	c.(943-945)gGa>gAa	p.G315E	NADK_ENST00000344463.4_Splice_Site_p.G460E|NADK_ENST00000492768.1_5'Flank|NADK_ENST00000378625.1_Splice_Site_p.G460E|NADK_ENST00000342348.5_Splice_Site_p.G283E|NADK_ENST00000341991.3_Splice_Site_p.G315E	NM_023018.4	NP_075394.3	O95544	NADK_HUMAN	NAD kinase	315					ATP metabolic process (GO:0046034)|NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		CACGATCACTCCTGACAGGGA	0.701																																						uc009vkw.2		NaN																	0					0						c.(943-945)GGA>GAA		NAD kinase							38.0	42.0	40.0					1																	1685647		2202	4298	6500	SO:0001630	splice_region_variant	65220				ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding	g.chr1:1685647C>T	BC001709	CCDS30565.1, CCDS55561.1, CCDS55562.1	1p36.33	2013-04-29			ENSG00000008130	ENSG00000008130	2.7.1.23		29831	protein-coding gene	gene with protein product		611616				11594753	Standard	NM_023018		Approved	FLJ13052	uc001aie.3	O95544	OTTHUMG00000000942	ENST00000341426.5:c.944-1G>A	1.37:g.1685647C>T						NADK_uc001aic.2_Missense_Mutation_p.G315E|NADK_uc001aid.3_Missense_Mutation_p.G315E|NADK_uc001aie.2_Missense_Mutation_p.G460E|NADK_uc010nyv.1_Missense_Mutation_p.G283E|NADK_uc009vkx.1_3'UTR	p.G315E	NM_023018	NP_075394	O95544	NADK_HUMAN		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)	10	1065	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	315					A6NNN3|A8K296|B7Z434|F5GXR5|Q5QPS4|Q9H2P2|Q9H931	Missense_Mutation	SNP	ENST00000341426.5	37	c.944G>A	CCDS30565.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.247896	0.80024	.	.	ENSG00000008130	ENST00000341426;ENST00000341991;ENST00000378625;ENST00000344463;ENST00000342348	D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32	4.44	4.44	0.53790	ATP-NAD kinase, PpnK-type, all-beta (1);ATP-NAD kinase, PpnK-type (1);	0.000000	0.85682	D	0.000000	D	0.96178	0.8754	H	0.98314	4.2	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	D	0.98041	1.0382	10	0.87932	D	0	.	16.0017	0.80297	0.0:1.0:0.0:0.0	.	283;460;315	F5GXR5;Q5QPS4;O95544	.;.;NADK_HUMAN	E	315;315;460;460;283	ENSP00000341679:G315E;ENSP00000344340:G315E;ENSP00000367890:G460E;ENSP00000340925:G460E;ENSP00000339727:G283E	ENSP00000341679:G315E	G	-	2	0	NADK	1675507	1.000000	0.71417	0.994000	0.49952	0.976000	0.68499	7.183000	0.77697	2.168000	0.68352	0.561000	0.74099	GGA		0.701	NADK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002769.1		NM_023018	Missense_Mutation	25	37	0	0	0	0.027356	0	25	37		
NPHP4	261734	broad.mit.edu	37	1	5926434	5926434	+	Splice_Site	SNP	A	A	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:5926434A>G	ENST00000378156.4	-	26	3908	c.3643T>C	c.(3643-3645)Tcg>Ccg	p.S1215P	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	1215					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		TGCACTTACGAGTAAATGATG	0.597																																						uc001alq.1		NaN																	0				pancreas(1)	1						c.(3643-3645)TCG>CCG		nephroretinin							38.0	41.0	40.0					1																	5926434		1941	4136	6077	SO:0001630	splice_region_variant	261734				actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	g.chr1:5926434A>G	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.3644+1T>C	1.37:g.5926434A>G						NPHP4_uc001alr.1_Missense_Mutation_p.S157P	p.S1215P	NM_015102	NP_055917	O75161	NPHP4_HUMAN		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	26	3909	-	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	1215					Q8IWC0	Missense_Mutation	SNP	ENST00000378156.4	37	c.3643T>C	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	A	15.35	2.807930	0.50421	.	.	ENSG00000131697	ENST00000378156	T	0.74632	-0.86	5.13	-1.19	0.09585	.	0.936522	0.08823	N	0.888539	T	0.63450	0.2512	N	0.19112	0.55	0.09310	N	0.999998	D;P	0.59357	0.985;0.666	P;B	0.52217	0.693;0.135	T	0.54377	-0.8303	10	0.42905	T	0.14	.	3.7434	0.08539	0.2195:0.2553:0.0:0.5252	.	157;1215	Q6ZSL3;O75161	.;NPHP4_HUMAN	P	1215	ENSP00000367398:S1215P	ENSP00000367398:S1215P	S	-	1	0	NPHP4	5849021	0.007000	0.16637	0.006000	0.13384	0.416000	0.31233	0.175000	0.16762	-0.091000	0.12440	0.402000	0.26972	TCG		0.597	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			Missense_Mutation	4	21	0	0	0	0.014758	0	4	21		
USP48	84196	broad.mit.edu	37	1	22033020	22033020	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:22033020C>G	ENST00000308271.9	-	17	2799	c.2151G>C	c.(2149-2151)aaG>aaC	p.K717N	USP48_ENST00000529637.1_Missense_Mutation_p.K729N|USP48_ENST00000374732.3_Missense_Mutation_p.K255N|USP48_ENST00000400301.1_Missense_Mutation_p.K717N	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	717	DUSP 3. {ECO:0000255|PROSITE- ProRule:PRU00613}.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		GGAGAGAAGTCTTTTGCTCGT	0.388																																						uc001bfb.2		NaN																	0				ovary(1)|lung(1)	2						c.(2149-2151)AAG>AAC		ubiquitin specific protease 48 isoform a							131.0	133.0	132.0					1																	22033020		2203	4300	6503	SO:0001583	missense	84196				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:22033020C>G	AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"""Ubiquitin-specific peptidases"""	18533	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"", ""ubiquitin specific protease 48"""	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.2151G>C	1.37:g.22033020C>G	ENSP00000309262:p.Lys717Asn					USP48_uc001bfa.2_Missense_Mutation_p.K255N|USP48_uc010odq.1_Missense_Mutation_p.K729N|USP48_uc009vqc.2_Missense_Mutation_p.K651N|USP48_uc001bfc.2_Missense_Mutation_p.K717N|USP48_uc001bfd.1_5'Flank	p.K717N	NM_032236	NP_115612	Q86UV5	UBP48_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)	17	2389	-		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	717			DUSP 3.		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000308271.9	37	c.2151G>C	CCDS30623.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.675845	0.67928	.	.	ENSG00000090686	ENST00000400301;ENST00000308271;ENST00000374732;ENST00000529637	T;T;T	0.11821	2.9;2.92;2.74	5.79	1.32	0.21799	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (1);	0.000000	0.85682	D	0.000000	T	0.34366	0.0895	M	0.77103	2.36	0.58432	D	0.999996	D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;1.0	D;D;D;D;D	0.91635	0.994;0.958;0.999;0.957;0.997	T	0.10965	-1.0607	10	0.72032	D	0.01	.	11.0142	0.47679	0.0:0.6995:0.0:0.3005	.	729;717;717;717;255	B7ZKS7;B7ZKS3;Q86UV5-2;Q86UV5;Q86UV5-5	.;.;.;UBP48_HUMAN;.	N	717;717;255;729	ENSP00000383157:K717N;ENSP00000309262:K717N;ENSP00000431949:K729N	ENSP00000309262:K717N	K	-	3	2	USP48	21905607	0.994000	0.37717	1.000000	0.80357	0.995000	0.86356	0.337000	0.19841	0.382000	0.24878	0.557000	0.71058	AAG		0.388	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021372.1		NM_032236		71	143	0	0	0	0.01441	0	71	143		
HSPG2	3339	broad.mit.edu	37	1	22191497	22191497	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:22191497C>G	ENST00000374695.3	-	36	4544	c.4465G>C	c.(4465-4467)Gat>Cat	p.D1489H		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1489	Laminin IV type A 3. {ECO:0000255|PROSITE-ProRule:PRU00458}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	AGGAGCTCATCCAGGTCGGCC	0.711																																						uc001bfj.2		NaN																	0				ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9						c.(4465-4467)GAT>CAT		heparan sulfate proteoglycan 2 precursor	Becaplermin(DB00102)|Palifermin(DB00039)						15.0	17.0	16.0					1																	22191497		2191	4278	6469	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22191497C>G	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.4465G>C	1.37:g.22191497C>G	ENSP00000363827:p.Asp1489His					HSPG2_uc009vqd.2_Missense_Mutation_p.D1490H	p.D1489H	NM_005529	NP_005520	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	36	4505	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	1489			Laminin IV type A 3.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.4465G>C	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.896940	0.72639	.	.	ENSG00000142798	ENST00000374695	T	0.40225	1.04	5.31	5.31	0.75309	Laminin B type IV (2);Laminin B, subgroup (1);	0.000000	0.39759	N	0.001266	T	0.59729	0.2215	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.61922	-0.6963	10	0.87932	D	0	.	16.4647	0.84074	0.0:1.0:0.0:0.0	.	1489	P98160	PGBM_HUMAN	H	1489	ENSP00000363827:D1489H	ENSP00000363827:D1489H	D	-	1	0	HSPG2	22064084	1.000000	0.71417	1.000000	0.80357	0.245000	0.25701	7.224000	0.78042	2.507000	0.84556	0.467000	0.42956	GAT		0.711	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1		NM_005529		4	4	0	0	0	0.014758	0	4	4		
EPHB2	2048	broad.mit.edu	37	1	23111208	23111208	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:23111208G>A	ENST00000400191.3	+	3	468	c.450G>A	c.(448-450)gtG>gtA	p.V150V	EPHB2_ENST00000544305.1_Silent_p.V150V|EPHB2_ENST00000374627.1_Silent_p.V144V|EPHB2_ENST00000374632.3_Silent_p.V150V|EPHB2_ENST00000374630.3_Silent_p.V150V	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	150	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		TCTCCCAGGTGGACCTGGGTG	0.597																																						uc009vqj.1		NaN																	0				ovary(3)|lung(1)|pancreas(1)	5						c.(448-450)GTG>GTA		ephrin receptor EphB2 isoform 1 precursor							42.0	42.0	42.0					1																	23111208		2203	4300	6503	SO:0001819	synonymous_variant	2048	Hereditary_Prostate_Cancer			axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23111208G>A	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.450G>A	1.37:g.23111208G>A						EPHB2_uc001bge.2_Silent_p.V150V|EPHB2_uc001bgf.2_Silent_p.V150V|EPHB2_uc010odu.1_Silent_p.V150V	p.V150V	NM_017449	NP_059145	P29323	EPHB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	3	595	+		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)	150			Extracellular (Potential).		O43477|Q5T0U6|Q5T0U7|Q5T0U8	Silent	SNP	ENST00000400191.3	37	c.450G>A																																																																																					0.597	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2		NM_017449		6	47	0	0	0	0.001984	0	6	47		
KDM1A	23028	broad.mit.edu	37	1	23380296	23380296	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:23380296G>A	ENST00000356634.3	+	4	843	c.694G>A	c.(694-696)Gag>Aag	p.E232K	KDM1A_ENST00000400181.4_Missense_Mutation_p.E252K|RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000542151.1_Missense_Mutation_p.E252K	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	232	SWIRM. {ECO:0000255|PROSITE- ProRule:PRU00247}.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|histone H3-K4 demethylation (GO:0034720)|histone H3-K9 demethylation (GO:0033169)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of DNA binding (GO:0043392)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein demethylation (GO:0006482)|regulation of primitive erythrocyte differentiation (GO:0010725)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|demethylase activity (GO:0032451)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-K4 specific) (GO:0032453)|histone demethylase activity (H3-K9 specific) (GO:0032454)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|MRF binding (GO:0043426)|oxidoreductase activity (GO:0016491)|p53 binding (GO:0002039)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GCTGACATTTGAGGCTACTCT	0.333																																						uc001bgi.2		NaN																	0				ovary(1)|lung(1)	2						c.(694-696)GAG>AAG		lysine-specific histone demethylase 1 isoform b							94.0	86.0	88.0					1																	23380296		2203	4300	6503	SO:0001583	missense	23028				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding	g.chr1:23380296G>A	AL031428	CCDS30627.1, CCDS53278.1	1p36.12	2011-07-01	2009-09-29	2009-09-29	ENSG00000004487	ENSG00000004487		"""Chromatin-modifying enzymes / K-demethylases"""	29079	protein-coding gene	gene with protein product		609132	"""amine oxidase (flavin containing) domain 2"", ""lysine (K)-specific demethylase 1"""	AOF2, KDM1		9628581, 12493763	Standard	NM_015013		Approved	KIAA0601, BHC110, LSD1	uc001bgj.2	O60341	OTTHUMG00000003220	ENST00000356634.3:c.694G>A	1.37:g.23380296G>A	ENSP00000349049:p.Glu232Lys					KDM1A_uc001bgj.2_Missense_Mutation_p.E252K	p.E232K	NM_015013	NP_055828	O60341	KDM1A_HUMAN			4	843	+			232			SWIRM.		A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Missense_Mutation	SNP	ENST00000356634.3	37	c.694G>A	CCDS30627.1	.	.	.	.	.	.	.	.	.	.	G	36	5.730818	0.96856	.	.	ENSG00000004487	ENST00000356634;ENST00000400181;ENST00000542151	T;T;T	0.37058	1.24;1.22;1.22	6.02	6.02	0.97574	Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);SWIRM (2);	0.000000	0.85682	D	0.000000	T	0.53481	0.1799	M	0.82517	2.595	0.80722	D	1	P;P	0.48162	0.885;0.906	P;P	0.47075	0.536;0.471	T	0.57347	-0.7827	10	0.52906	T	0.07	-30.5017	19.5289	0.95219	0.0:0.0:1.0:0.0	.	252;232	O60341-2;O60341	.;KDM1A_HUMAN	K	232;252;252	ENSP00000349049:E232K;ENSP00000383042:E252K;ENSP00000439072:E252K	ENSP00000349049:E232K	E	+	1	0	KDM1A	23252883	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.736000	0.98828	2.865000	0.98341	0.655000	0.94253	GAG		0.333	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008880.3		NM_015013		13	62	0	0	0	0.024245	0	13	62		
RCAN3	11123	broad.mit.edu	37	1	24857725	24857725	+	Silent	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:24857725C>G	ENST00000374395.4	+	3	526	c.213C>G	c.(211-213)ctC>ctG	p.L71L	RCAN3_ENST00000374393.2_Intron|RCAN3_ENST00000436717.2_Silent_p.L71L|RCAN3_ENST00000538532.1_Intron|RCAN3_ENST00000412742.2_Silent_p.L71L|RN7SL857P_ENST00000580228.1_RNA	NM_001251978.1|NM_001251979.1|NM_001251984.1	NP_001238907.1|NP_001238908.1|NP_001238913.1	Q9UKA8	RCAN3_HUMAN	RCAN family member 3	71					anatomical structure morphogenesis (GO:0009653)|calcium-mediated signaling (GO:0019722)		RNA binding (GO:0003723)|troponin I binding (GO:0031013)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)		TTGAAGCACTCTTCACCATCT	0.388																																						uc001bjj.2		NaN																	0					0						c.(211-213)CTC>CTG		Down syndrome critical region gene 1-like 2							69.0	73.0	72.0					1																	24857725		2203	4300	6503	SO:0001819	synonymous_variant	11123				anatomical structure morphogenesis|calcium-mediated signaling		nucleotide binding|RNA binding|troponin I binding	g.chr1:24857725C>G		CCDS254.1, CCDS57980.1, CCDS57981.1, CCDS57982.1, CCDS72730.1	1p35.3-p33	2008-02-05	2007-06-26	2007-06-26	ENSG00000117602	ENSG00000117602			3042	protein-coding gene	gene with protein product		605860	"""Down syndrome critical region gene 1-like 2"""	DSCR1L2		10756093	Standard	NM_001251984		Approved		uc001bjj.3	Q9UKA8	OTTHUMG00000003298	ENST00000374395.4:c.213C>G	1.37:g.24857725C>G						RCAN3_uc009vrd.2_Silent_p.L71L|RCAN3_uc009vre.2_Intron|RCAN3_uc009vrf.2_Silent_p.L71L|RCAN3_uc009vrg.2_Intron	p.L71L	NM_013441	NP_038469	Q9UKA8	RCAN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)	3	526	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	71					A4GU14|A4LA69|E3VWE2|E5L4P0|E5L4P7|E7ENV1|E7EWD8|G1FI66|G1FLF0|Q5ECL3|Q5TGC6|Q9NUC8|Q9UKA7	Silent	SNP	ENST00000374395.4	37	c.213C>G	CCDS254.1																																																																																				0.388	RCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009176.2				14	171	0	0	0	0.024245	0	14	171		
RHCE	6006	broad.mit.edu	37	1	25729100	25729100	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:25729100C>T	ENST00000294413.7	-	3	531	c.473G>A	c.(472-474)aGt>aAt	p.S158N	RHCE_ENST00000243186.6_Missense_Mutation_p.S158N|RHCE_ENST00000455194.1_Missense_Mutation_p.S158N|RHCE_ENST00000374352.2_Missense_Mutation_p.S142N|RHCE_ENST00000425135.1_Missense_Mutation_p.S158N|RHCE_ENST00000346452.4_Missense_Mutation_p.S158N|RHCE_ENST00000340849.4_Missense_Mutation_p.S158N|RHCE_ENST00000413854.1_Missense_Mutation_p.S158N|RHCE_ENST00000349438.4_Missense_Mutation_p.S158N|RHCE_ENST00000495048.1_5'UTR|RHCE_ENST00000349320.3_Missense_Mutation_p.S142N	NM_020485.4	NP_065231	P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	158						integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)			endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGATATTACTGATGACCAT	0.532																																						uc001bkf.2		NaN																	0					0						c.(472-474)AGT>AAT		Rhesus blood group, CcEe antigens isoform 1							195.0	166.0	176.0					1																	25729100		2203	4300	6503	SO:0001583	missense	6006					integral to plasma membrane		g.chr1:25729100C>T	BC075081	CCDS30634.1, CCDS30635.1, CCDS30636.1, CCDS30637.1	1p36.11	2014-09-17	2006-02-23		ENSG00000188672	ENSG00000188672		"""CD molecules"", ""Blood group antigens"""	10008	protein-coding gene	gene with protein product		111700	"""Rhesus blood group, CcEe antigens"""	RH		8220426	Standard	NM_138618		Approved	CD240CE	uc001bkf.3	P18577	OTTHUMG00000007650	ENST00000294413.7:c.473G>A	1.37:g.25729100C>T	ENSP00000294413:p.Ser158Asn					RHCE_uc001bkg.2_Missense_Mutation_p.S158N|RHCE_uc001bkh.2_Missense_Mutation_p.S158N|RHCE_uc001bki.2_Missense_Mutation_p.S158N|RHCE_uc001bkj.2_Missense_Mutation_p.S142N	p.S158N	NM_020485	NP_065231	P18577	RHCE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)	3	559	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	158					A7DW68|B7UDF3|B7UDF4|B7UDF5|B7UDF6|B7UDF7|B7UDF8|B7UDF9|B7UDG0|B7UDG1|B7UDG2|B7UDG3|Q02163|Q02164|Q02165|Q16160|Q2MJW0|Q2VC86|Q3LTM6|Q6AZX5|Q6J2U3|Q7RU06|Q8IZT2|Q8IZT3|Q8IZT4|Q8IZT5|Q9UD13|Q9UD14|Q9UD15|Q9UD16|Q9UD73|Q9UD74|Q9UEC2|Q9UEC3|Q9UPN0	Missense_Mutation	SNP	ENST00000294413.7	37	c.473G>A	CCDS30635.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.678|0.678	-0.799422|-0.799422	0.02841|0.02841	.|.	.|.	ENSG00000188672|ENSG00000188672	ENST00000413854;ENST00000539650;ENST00000455194;ENST00000374352;ENST00000243186;ENST00000425135;ENST00000340849;ENST00000349320;ENST00000346452;ENST00000294413;ENST00000447203;ENST00000349438|ENST00000527747	T;T;T;T;T;T;T;T;T;T|.	0.24723|.	2.14;1.89;2.02;2.14;2.1;1.86;2.02;2.34;2.19;1.84|.	4.26|4.26	-8.52|-8.52	0.00920|0.00920	Ammonium transporter AmtB-like (3);|.	1.750800|.	0.02638|.	N|.	0.105038|.	T|T	0.09335|0.09335	0.0230|0.0230	N|N	0.01352|0.01352	-0.895|-0.895	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.21147|.	0.0;0.026;0.052;0.0;0.002|.	B;B;B;B;B|.	0.21708|.	0.006;0.036;0.03;0.005;0.009|.	T|T	0.20472|0.20472	-1.0274|-1.0274	10|5	0.12430|.	T|.	0.62|.	2.6368|2.6368	7.139|7.139	0.25546|0.25546	0.1814:0.6083:0.0915:0.1188|0.1814:0.6083:0.0915:0.1188	.|.	142;158;158;158;158|.	Q5VSJ9;E7EQ47;Q5VSJ7;Q5VSJ8;P18577|.	.;.;.;.;RHCE_HUMAN|.	N|I	158;158;158;142;158;158;158;142;158;158;158;158|32	ENSP00000415417:S158N;ENSP00000416275:S158N;ENSP00000363472:S142N;ENSP00000243186:S158N;ENSP00000392809:S158N;ENSP00000345084:S158N;ENSP00000311185:S142N;ENSP00000344485:S158N;ENSP00000294413:S158N;ENSP00000334570:S158N|.	ENSP00000243186:S158N|.	S|V	-|-	2|1	0|0	RHCE|RHCE	25601687|25601687	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-2.582000|-2.582000	0.00905|0.00905	-3.844000|-3.844000	0.00100|0.00100	-1.610000|-1.610000	0.00802|0.00802	AGT|GTA		0.532	RHCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020312.2		NM_020485		35	178	0	0	0	0.021022	0	35	178		
MAN1C1	57134	broad.mit.edu	37	1	26073233	26073233	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:26073233G>T	ENST00000374332.4	+	3	1042	c.712G>T	c.(712-714)Gag>Tag	p.E238*	MAN1C1_ENST00000263979.3_Nonsense_Mutation_p.E58*|MAN1C1_ENST00000374329.1_Nonsense_Mutation_p.E9*|MAN1C1_ENST00000473891.1_3'UTR	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	238					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		GGAGTTCCAGGAGGCCAAGGC	0.642																																						uc001bkm.2		NaN																	0				skin(1)	1						c.(712-714)GAG>TAG		mannosidase, alpha, class 1C, member 1							71.0	58.0	63.0					1																	26073233		2203	4300	6503	SO:0001587	stop_gained	57134				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr1:26073233G>T	AF261655	CCDS265.1	1p35	2008-02-05			ENSG00000117643	ENSG00000117643			19080	protein-coding gene	gene with protein product						10915796	Standard	XM_005245945		Approved	HMIC	uc001bkm.2	Q9NR34	OTTHUMG00000004417	ENST00000374332.4:c.712G>T	1.37:g.26073233G>T	ENSP00000363452:p.Glu238*					MAN1C1_uc009vry.1_Nonsense_Mutation_p.E58*	p.E238*	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)	3	1042	+		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)	238			Lumenal (Potential).		A6NNE2|B2RNP2|Q9Y545	Nonsense_Mutation	SNP	ENST00000374332.4	37	c.712G>T	CCDS265.1	.	.	.	.	.	.	.	.	.	.	G	42	9.308712	0.99132	.	.	ENSG00000117643	ENST00000374332;ENST00000374331;ENST00000263979;ENST00000374329	.	.	.	4.93	4.93	0.64822	.	0.053747	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	16.3004	0.82807	0.0:0.0:1.0:0.0	.	.	.	.	X	238;58;58;9	.	ENSP00000263979:E58X	E	+	1	0	MAN1C1	25945820	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.691000	0.68249	2.448000	0.82819	0.462000	0.41574	GAG		0.642	MAN1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012828.3		NM_020379		23	35	1	0	2.44723e-14	0.024334	2.63928e-14	23	35		
ZBTB8A	653121	broad.mit.edu	37	1	33058581	33058581	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:33058581C>T	ENST00000373510.4	+	3	278	c.49C>T	c.(49-51)Cag>Tag	p.Q17*	RP1-27O5.3_ENST00000480336.1_3'UTR|ZBTB8A_ENST00000316459.4_Nonsense_Mutation_p.Q17*	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	17					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(2)|large_intestine(2)|lung(2)|prostate(1)	7						ACTGAACGAGCAGCGCAGGCA	0.418																																						uc001bvn.2		NaN																	0					0						c.(49-51)CAG>TAG		zinc finger and BTB domain containing 8A							65.0	59.0	61.0					1																	33058581		2203	4300	6503	SO:0001587	stop_gained	653121				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:33058581C>T	AF548353	CCDS30664.1	1p34.3	2013-01-08	2009-03-25	2009-03-25	ENSG00000160062	ENSG00000160062		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24172	protein-coding gene	gene with protein product			"""zinc finger and BTB domain containing 8"""	ZBTB8		12477932	Standard	NM_001040441		Approved	BOZF1, FLJ90065, ZNF916A	uc001bvn.3	Q96BR9	OTTHUMG00000007855	ENST00000373510.4:c.49C>T	1.37:g.33058581C>T	ENSP00000362609:p.Gln17*					ZBTB8A_uc001bvk.2_RNA|ZBTB8A_uc001bvm.2_Nonsense_Mutation_p.Q17*	p.Q17*	NM_001040441	NP_001035531	Q96BR9	ZBT8A_HUMAN			3	534	+			17					Q8IUL5|Q8IWR9|Q8N2Y5|Q96BX0	Nonsense_Mutation	SNP	ENST00000373510.4	37	c.49C>T	CCDS30664.1	.	.	.	.	.	.	.	.	.	.	C	37	6.019552	0.97205	.	.	ENSG00000160062	ENST00000373510;ENST00000316459	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.3468	18.3637	0.90384	0.0:1.0:0.0:0.0	.	.	.	.	X	17	.	ENSP00000317561:Q17X	Q	+	1	0	ZBTB8A	32831168	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.487000	0.81328	2.651000	0.90000	0.585000	0.79938	CAG		0.418	ZBTB8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021665.2		NM_144621		25	36	0	0	0	0.021523	0	25	36		
YARS	8565	broad.mit.edu	37	1	33272134	33272134	+	Silent	SNP	T	T	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:33272134T>A	ENST00000373477.4	-	4	1367	c.459A>T	c.(457-459)gtA>gtT	p.V153V		NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	153			Missing (in CMTDIC). {ECO:0000269|PubMed:16429158}.		apoptotic process (GO:0006915)|gene expression (GO:0010467)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)|tyrosyl-tRNA aminoacylation (GO:0006437)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|interleukin-8 receptor binding (GO:0005153)|poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)|tRNA binding (GO:0000049)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	CCACCTGCTTTACCACCTCAG	0.542																																						uc001bvy.1		NaN																	0				skin(2)	2						c.(457-459)GTA>GTT		tyrosyl-tRNA synthetase	L-Tyrosine(DB00135)						177.0	163.0	167.0					1																	33272134		2203	4300	6503	SO:0001819	synonymous_variant	8565				apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity	g.chr1:33272134T>A	U89436	CCDS368.1	1p35.1	2014-09-17			ENSG00000134684	ENSG00000134684	6.1.1.1	"""Aminoacyl tRNA synthetases / Class I"""	12840	protein-coding gene	gene with protein product	"""tyrosine tRNA ligase 1, cytoplasmic"""	603623				8552597, 9162081	Standard	NM_003680		Approved	YTS, YRS, tyrRS	uc001bvy.1	P54577	OTTHUMG00000003933	ENST00000373477.4:c.459A>T	1.37:g.33272134T>A							p.V153V	NM_003680	NP_003671	P54577	SYYC_HUMAN			4	1247	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	153		Missing (in CMTDIC).			B3KWK4|D3DPQ4|O43276|Q53EN1	Silent	SNP	ENST00000373477.4	37	c.459A>T	CCDS368.1																																																																																				0.542	YARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011225.1		NM_003680		29	141	0	0	0	0.009535	0	29	141		
NT5C1A	84618	broad.mit.edu	37	1	40131908	40131908	+	Splice_Site	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:40131908G>A	ENST00000235628.1	-	2	135	c.136C>T	c.(136-138)Ccc>Tcc	p.P46S		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	46					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|purine nucleobase metabolic process (GO:0006144)|purine nucleoside monophosphate catabolic process (GO:0009128)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TGAGGCTTGGGCTGCAGAGGT	0.582																																						uc001cdq.1		NaN																	0				ovary(1)	1						c.(136-138)CCC>TCC		5'-nucleotidase, cytosolic IA							65.0	58.0	60.0					1																	40131908		2203	4300	6503	SO:0001630	splice_region_variant	84618				purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding	g.chr1:40131908G>A	AF331801	CCDS440.1	1p34.3-p33	2008-07-18			ENSG00000116981	ENSG00000116981			17819	protein-coding gene	gene with protein product	"""cytosolic 5' nucleotidase, type 1A"", ""AMP-specific 5'-NT"", ""cytosolic 5'-nucleotidase IA"""	610525				11133996, 11690631	Standard	NM_032526		Approved	CN-I, CN-IA, CN1A, CN1, MGC119199, MGC119201	uc001cdq.1	Q9BXI3	OTTHUMG00000009244	ENST00000235628.1:c.136-1C>T	1.37:g.40131908G>A							p.P46S	NM_032526	NP_115915	Q9BXI3	5NT1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		2	136	-	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	46					Q3SYB9|Q5TG98|Q9BWT8	Missense_Mutation	SNP	ENST00000235628.1	37	c.136C>T	CCDS440.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.821766	0.90873	.	.	ENSG00000116981	ENST00000235628	.	.	.	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.66479	0.2793	L	0.37750	1.13	0.80722	D	1	D	0.64830	0.994	P	0.62435	0.902	T	0.69079	-0.5240	9	0.56958	D	0.05	-7.4357	18.3461	0.90322	0.0:0.0:1.0:0.0	.	46	Q9BXI3	5NT1A_HUMAN	S	46	.	ENSP00000235628:P46S	P	-	1	0	NT5C1A	39904495	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	9.869000	0.99810	2.413000	0.81919	0.650000	0.86243	CCC		0.582	NT5C1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025626.1		NM_032526	Missense_Mutation	5	93	0	0	0	0.014758	0	5	93		
STIL	6491	broad.mit.edu	37	1	47716863	47716863	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:47716863G>A	ENST00000360380.3	-	18	4172	c.3809C>T	c.(3808-3810)tCa>tTa	p.S1270L	STIL_ENST00000396221.2_Missense_Mutation_p.S1253L|STIL_ENST00000337817.5_Missense_Mutation_p.S1270L|STIL_ENST00000371877.3_Missense_Mutation_p.S1271L|STIL_ENST00000243182.6_Missense_Mutation_p.S1270L	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	1270					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				GGTGCCTACTGAATTCATGCT	0.383																																						uc001crc.1		NaN																	0				lung(2)|skin(1)	3						c.(3808-3810)TCA>TTA		SCL/TAL1 interrupting locus isoform 2							110.0	107.0	108.0					1																	47716863		2203	4300	6503	SO:0001583	missense	6491				cell proliferation|multicellular organismal development	centrosome|cytosol		g.chr1:47716863G>A	M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"""TAL1 (SCL) interrupting locus"""	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.3809C>T	1.37:g.47716863G>A	ENSP00000353544:p.Ser1270Leu					TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.S1224L|STIL_uc010omo.1_Missense_Mutation_p.S1253L|STIL_uc001crd.1_Missense_Mutation_p.S1271L|STIL_uc001cre.1_Missense_Mutation_p.S1270L	p.S1270L	NM_003035	NP_003026	Q15468	STIL_HUMAN			17	3964	-		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)	1270					Q5T0C5|Q68CN9	Missense_Mutation	SNP	ENST00000360380.3	37	c.3809C>T	CCDS548.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.969350	0.92855	.	.	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182	T;T;T;T;T	0.28895	1.62;1.62;1.62;1.59;1.62	6.07	6.07	0.98685	.	0.060496	0.64402	D	0.000001	T	0.58163	0.2103	M	0.66939	2.045	0.53688	D	0.999972	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.56288	-0.8004	10	0.87932	D	0	-17.8158	20.6525	0.99598	0.0:0.0:1.0:0.0	.	1253;1271;1270	E9PSF2;Q15468-2;Q15468	.;.;STIL_HUMAN	L	1270;1270;1271;1253;1270	ENSP00000353544:S1270L;ENSP00000337367:S1270L;ENSP00000360944:S1271L;ENSP00000379523:S1253L;ENSP00000243182:S1270L	ENSP00000243182:S1270L	S	-	2	0	STIL	47489450	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.555000	0.82223	2.890000	0.99128	0.585000	0.79938	TCA		0.383	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2		NM_003035		82	70	0	0	0	0.01441	0	82	70		
ZNHIT6	54680	broad.mit.edu	37	1	86172186	86172186	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:86172186C>G	ENST00000370574.3	-	2	794	c.661G>C	c.(661-663)Gag>Cag	p.E221Q	ZNHIT6_ENST00000431532.2_Missense_Mutation_p.E182Q			Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	221					box C/D snoRNP assembly (GO:0000492)|ribosome biogenesis (GO:0042254)	extracellular vesicular exosome (GO:0070062)|pre-snoRNP complex (GO:0070761)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						CCACAAGTCTCACACCTACAA	0.328																																						uc001dlh.2		NaN																	0				large_intestine(1)	1						c.(661-663)GAG>CAG		zinc finger, HIT type 6							120.0	117.0	118.0					1																	86172186		2203	4300	6503	SO:0001583	missense	54680				box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding	g.chr1:86172186C>G	AL442074	CCDS707.1, CCDS53338.1	1p22.3	2013-01-17	2010-09-15	2008-06-23	ENSG00000117174	ENSG00000117174		"""Zinc fingers, HIT-type"""	26089	protein-coding gene	gene with protein product	"""box C/D snoRNA essential 1 homolog (S. cerevisiae)"""		"""chromosome 1 open reading frame 181"", ""zinc finger, HIT type 6"""	C1orf181		12747765	Standard	NM_017953		Approved	FLJ20729, NY-BR-75, BCD1	uc001dlh.3	Q9NWK9	OTTHUMG00000010576	ENST00000370574.3:c.661G>C	1.37:g.86172186C>G	ENSP00000359606:p.Glu221Gln					ZNHIT6_uc010osc.1_Missense_Mutation_p.E182Q	p.E221Q	NM_017953	NP_060423	Q9NWK9	BCD1_HUMAN			2	795	-			221			HIT-type.		B2RBA1|B4DP13|D3DT20|Q9H278|Q9H3X3|Q9NWN0	Missense_Mutation	SNP	ENST00000370574.3	37	c.661G>C	CCDS707.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.541154	0.65085	.	.	ENSG00000117174	ENST00000431532;ENST00000370574	T;T	0.43688	0.94;0.94	5.03	5.03	0.67393	Zinc finger, HIT-type (2);	0.173313	0.50627	D	0.000118	T	0.46073	0.1374	L	0.33753	1.03	0.42409	D	0.99259	P;D	0.76494	0.87;0.999	P;D	0.70935	0.699;0.971	T	0.27434	-1.0074	10	0.37606	T	0.19	-15.1173	19.2615	0.93970	0.0:1.0:0.0:0.0	.	182;221	B4DP13;Q9NWK9	.;BCD1_HUMAN	Q	182;221	ENSP00000414344:E182Q;ENSP00000359606:E221Q	ENSP00000359606:E221Q	E	-	1	0	ZNHIT6	85944774	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.454000	0.60068	2.724000	0.93272	0.650000	0.86243	GAG		0.328	ZNHIT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029186.1		NM_017953		64	115	0	0	0	0.01441	0	64	115		
BRDT	676	broad.mit.edu	37	1	92441909	92441909	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:92441909C>A	ENST00000362005.3	+	6	950	c.532C>A	c.(532-534)Cct>Act	p.P178T	BRDT_ENST00000399546.2_Missense_Mutation_p.P178T|BRDT_ENST00000370389.2_Missense_Mutation_p.P105T|BRDT_ENST00000394530.3_Missense_Mutation_p.P132T|BRDT_ENST00000402388.1_Missense_Mutation_p.P178T	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	178					cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GCAAGAAATTCCTTCTGTATT	0.403																																						uc001dok.3		NaN																	0				stomach(2)|ovary(1)|lung(1)	4						c.(532-534)CCT>ACT		testis-specific bromodomain protein							85.0	83.0	84.0					1																	92441909		2203	4300	6503	SO:0001583	missense	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92441909C>A	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.532C>A	1.37:g.92441909C>A	ENSP00000354568:p.Pro178Thr					BRDT_uc001dol.3_Missense_Mutation_p.P178T|BRDT_uc010osz.1_Missense_Mutation_p.P182T|BRDT_uc009wdf.2_Missense_Mutation_p.P105T|BRDT_uc010ota.1_Missense_Mutation_p.P132T|BRDT_uc010otb.1_Missense_Mutation_p.P132T|BRDT_uc001dom.3_Missense_Mutation_p.P178T	p.P178T	NM_207189	NP_997072	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	5	881	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	178					A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Missense_Mutation	SNP	ENST00000362005.3	37	c.532C>A	CCDS735.1	.	.	.	.	.	.	.	.	.	.	C	6.762	0.509463	0.12883	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000539070;ENST00000394530;ENST00000440509;ENST00000426141;ENST00000402388	T;T;T;T;T;T;T	0.18960	3.11;3.14;3.11;3.15;2.18;2.8;3.11	5.08	0.747	0.18371	.	0.399625	0.23688	N	0.045541	T	0.06416	0.0165	M	0.69823	2.125	0.09310	N	1	B;B;B;P	0.39282	0.437;0.068;0.002;0.666	B;B;B;B	0.30401	0.081;0.006;0.005;0.115	T	0.20405	-1.0276	10	0.45353	T	0.12	-1.0967	3.8669	0.09019	0.1666:0.5562:0.0:0.2772	.	132;132;182;178	B7ZAX7;B7Z811;B7Z890;Q58F21	.;.;.;BRDT_HUMAN	T	178;105;178;178;132;178;178;178	ENSP00000354568:P178T;ENSP00000359416:P105T;ENSP00000387822:P178T;ENSP00000378038:P132T;ENSP00000416714:P178T;ENSP00000404969:P178T;ENSP00000384051:P178T	ENSP00000354568:P178T	P	+	1	0	BRDT	92214497	0.001000	0.12720	0.014000	0.15608	0.119000	0.20118	0.032000	0.13732	0.250000	0.21479	0.555000	0.69702	CCT		0.403	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2		NM_207189		12	83	1	0	4.36969e-10	0.016723	4.60926e-10	12	83		
BCAR3	8412	broad.mit.edu	37	1	94027918	94027918	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:94027918C>G	ENST00000370244.1	-	14	2646	c.2358G>C	c.(2356-2358)ttG>ttC	p.L786F	BCAR3_ENST00000539242.1_Missense_Mutation_p.L462F|BCAR3_ENST00000370247.3_Missense_Mutation_p.L695F|BCAR3_ENST00000370243.1_Missense_Mutation_p.L786F|BCAR3_ENST00000260502.6_Missense_Mutation_p.L786F	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	786	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		TGCCCCATAGCAATCGCATTT	0.388																																						uc001dpz.2		NaN																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(2356-2358)TTG>TTC		breast cancer antiestrogen resistance 3							147.0	140.0	142.0					1																	94027918		2203	4300	6503	SO:0001583	missense	8412				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:94027918C>G	U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"""SH2 domain containing"""	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.2358G>C	1.37:g.94027918C>G	ENSP00000359264:p.Leu786Phe					BCAR3_uc001dqa.2_Missense_Mutation_p.L786F|BCAR3_uc001dqb.2_Missense_Mutation_p.L786F|BCAR3_uc001dpx.3_Missense_Mutation_p.L462F|BCAR3_uc001dpy.2_Missense_Mutation_p.L695F	p.L786F	NM_003567	NP_003558	O75815	BCAR3_HUMAN		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)	12	2633	-		all_lung(203;0.00145)|Lung NSC(277;0.00662)	786			Ras-GEF.		D3DT43|Q5TEW3|Q6UW40|Q9BR50	Missense_Mutation	SNP	ENST00000370244.1	37	c.2358G>C	CCDS745.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.703904	0.68501	.	.	ENSG00000137936	ENST00000370247;ENST00000260502;ENST00000370244;ENST00000370243;ENST00000539242	T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8	5.45	4.54	0.55810	Guanine-nucleotide dissociation stimulator CDC25 (2);	0.068131	0.64402	D	0.000017	T	0.43523	0.1251	L	0.42245	1.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.35773	-0.9775	10	0.22109	T	0.4	-26.4017	9.6612	0.39956	0.0:0.7847:0.1411:0.0742	.	786;695	O75815;Q5TEW3	BCAR3_HUMAN;.	F	695;786;786;786;462	ENSP00000359267:L695F;ENSP00000260502:L786F;ENSP00000359264:L786F;ENSP00000359263:L786F;ENSP00000441343:L462F	ENSP00000260502:L786F	L	-	3	2	BCAR3	93800506	1.000000	0.71417	0.965000	0.40720	0.995000	0.86356	3.736000	0.55052	1.304000	0.44892	0.561000	0.74099	TTG		0.388	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028420.1				74	72	0	0	0	0.01441	0	74	72		
CSF1	1435	broad.mit.edu	37	1	110456967	110456967	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:110456967G>A	ENST00000329608.6	+	2	517	c.126G>A	c.(124-126)atG>atA	p.M42I	CSF1_ENST00000344188.5_Missense_Mutation_p.M42I|CSF1_ENST00000369801.1_Missense_Mutation_p.M42I|CSF1_ENST00000369802.3_Missense_Mutation_p.M42I|CSF1_ENST00000420111.2_Missense_Mutation_p.M42I	NM_000757.5|NM_172211.3	NP_000748|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	42					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|developmental process involved in reproduction (GO:0003006)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary duct terminal end bud growth (GO:0060763)|mammary gland fat development (GO:0060611)|monocyte activation (GO:0042117)|odontogenesis (GO:0042476)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|osteoclast proliferation (GO:0002158)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of macrophage derived foam cell differentiation (GO:0010743)|regulation of ossification (GO:0030278)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|macrophage colony-stimulating factor receptor binding (GO:0005157)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		GTAGCCACATGATTGGGAGTG	0.582																																						uc001dyu.2		NaN																	0				ovary(1)	1						c.(124-126)ATG>ATA		colony stimulating factor 1 isoform a precursor							154.0	141.0	146.0					1																	110456967		2203	4300	6503	SO:0001583	missense	1435				cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity	g.chr1:110456967G>A	BC021117	CCDS816.1, CCDS817.1, CCDS30797.1	1p13.3	2012-09-20			ENSG00000184371	ENSG00000184371			2432	protein-coding gene	gene with protein product		120420				1540160	Standard	NM_172210		Approved	M-CSF, MCSF, MGC31930	uc001dyw.4	P09603	OTTHUMG00000011646	ENST00000329608.6:c.126G>A	1.37:g.110456967G>A	ENSP00000327513:p.Met42Ile					CSF1_uc001dyt.2_Missense_Mutation_p.M42I|CSF1_uc001dyv.3_Missense_Mutation_p.M42I|CSF1_uc001dyw.3_Missense_Mutation_p.M42I	p.M42I	NM_172212	NP_757351	P09603	CSF1_HUMAN		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)	2	539	+		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)	42			Lumenal (Potential).		A8K6J5|Q13130|Q14086|Q14806|Q5VVF3|Q5VVF4|Q9UQR8	Missense_Mutation	SNP	ENST00000329608.6	37	c.126G>A	CCDS816.1	.	.	.	.	.	.	.	.	.	.	G	6.968	0.548647	0.13312	.	.	ENSG00000184371	ENST00000527192;ENST00000525659;ENST00000357302;ENST00000344188;ENST00000329608;ENST00000369802;ENST00000420111;ENST00000369801	T;T;T;T;T;T;T;T	0.12147	2.71;2.71;2.71;2.71;2.71;2.71;2.71;2.71	5.0	-0.77	0.11005	Four-helical cytokine-like, core (1);	0.379069	0.25922	N	0.027425	T	0.02230	0.0069	L	0.39898	1.24	0.09310	N	0.999994	B;B;B	0.12013	0.004;0.005;0.004	B;B;B	0.12837	0.008;0.008;0.004	T	0.45293	-0.9271	10	0.13108	T	0.6	.	4.2953	0.10899	0.0916:0.4377:0.3216:0.1491	.	42;42;42	P09603-3;P09603;P09603-2	.;CSF1_HUMAN;.	I	49;1;42;42;42;42;42;42	ENSP00000434527:M49I;ENSP00000431547:M1I;ENSP00000349854:M42I;ENSP00000342718:M42I;ENSP00000327513:M42I;ENSP00000358817:M42I;ENSP00000407317:M42I;ENSP00000358816:M42I	ENSP00000327513:M42I	M	+	3	0	CSF1	110258490	0.969000	0.33509	0.813000	0.32504	0.784000	0.44337	-0.143000	0.10296	0.207000	0.20607	0.603000	0.83216	ATG		0.582	CSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032208.1		NM_000757		13	54	0	0	0	0.013537	0	13	54		
RAP1A	5906	broad.mit.edu	37	1	112246033	112246033	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:112246033C>A	ENST00000369709.3	+	5	438	c.259C>A	c.(259-261)Cag>Aag	p.Q87K	RAP1A_ENST00000356415.1_Missense_Mutation_p.Q87K|RAP1A_ENST00000545460.1_Missense_Mutation_p.Q87K|RAP1A_ENST00000494982.1_3'UTR|RAP1A_ENST00000436150.2_Missense_Mutation_p.Q87K	NM_002884.2	NP_002875.1	P62834	RAP1A_HUMAN	RAP1A, member of RAS oncogene family	87					activation of MAPKK activity (GO:0000186)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of vasculogenesis (GO:2001214)|protein transport (GO:0015031)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|guanyl-nucleotide exchange factor complex (GO:0032045)|late endosome (GO:0005770)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(81;6.79e-06)|all_epithelial(167;2.42e-05)|all_lung(203;0.000105)|Lung NSC(277;0.00021)		Lung(183;0.0183)|Colorectal(144;0.0418)|LUSC - Lung squamous cell carcinoma(189;0.0966)|all cancers(265;0.098)|Epithelial(280;0.0981)|COAD - Colon adenocarcinoma(174;0.141)		TATTACAGCTCAGTCCACGTT	0.368																																						uc001ebi.2		NaN																	0					0						c.(259-261)CAG>AAG		RAP1A, member of RAS oncogene family precursor							93.0	97.0	96.0					1																	112246033		2203	4300	6503	SO:0001583	missense	5906				activation of MAPKK activity|blood coagulation|energy reserve metabolic process|nerve growth factor receptor signaling pathway|regulation of insulin secretion	cytosol|plasma membrane	GTP binding|GTPase activity	g.chr1:112246033C>A	BC014086	CCDS840.1	1p13.3	2014-05-09			ENSG00000116473	ENSG00000116473			9855	protein-coding gene	gene with protein product		179520				3143720	Standard	XM_006710803		Approved	KREV-1, SMGP21	uc001ebl.3	P62834	OTTHUMG00000011959	ENST00000369709.3:c.259C>A	1.37:g.112246033C>A	ENSP00000358723:p.Gln87Lys					RAP1A_uc001ebk.2_Missense_Mutation_p.Q87K|RAP1A_uc001ebl.2_Missense_Mutation_p.Q87K|RAP1A_uc001ebm.2_RNA	p.Q87K	NM_002884	NP_002875	P62834	RAP1A_HUMAN		Lung(183;0.0183)|Colorectal(144;0.0418)|LUSC - Lung squamous cell carcinoma(189;0.0966)|all cancers(265;0.098)|Epithelial(280;0.0981)|COAD - Colon adenocarcinoma(174;0.141)	5	363	+		all_cancers(81;6.79e-06)|all_epithelial(167;2.42e-05)|all_lung(203;0.000105)|Lung NSC(277;0.00021)	87					P10113	Missense_Mutation	SNP	ENST00000369709.3	37	c.259C>A	CCDS840.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.048917	0.93740	.	.	ENSG00000116473	ENST00000356415;ENST00000433097;ENST00000369709;ENST00000436150;ENST00000545460	T;T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97;-0.97	5.77	5.77	0.91146	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.54775	0.1879	N	0.02334	-0.595	0.80722	D	1	P	0.46220	0.874	P	0.51415	0.669	T	0.67260	-0.5715	10	0.39692	T	0.17	.	19.5932	0.95523	0.0:1.0:0.0:0.0	.	87	P62834	RAP1A_HUMAN	K	87	ENSP00000348786:Q87K;ENSP00000396741:Q87K;ENSP00000358723:Q87K;ENSP00000394318:Q87K;ENSP00000443009:Q87K	ENSP00000348786:Q87K	Q	+	1	0	RAP1A	112047556	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.729000	0.93468	0.655000	0.94253	CAG		0.368	RAP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033071.1		NM_002884		23	93	1	0	8.24728e-16	0.024334	8.95473e-16	23	93		
FCGR1B	2210	broad.mit.edu	37	1	120930097	120930097	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:120930097G>A	ENST00000369384.4	-	4	546	c.504C>T	c.(502-504)tgC>tgT	p.C168C	RP11-439A17.9_ENST00000457996.1_RNA|FCGR1B_ENST00000369383.4_Silent_p.C76C|RP11-439A17.10_ENST00000426275.1_RNA|FCGR1B_ENST00000472543.1_5'UTR	NM_001017986.3	NP_001017986.1	Q92637	FCGRB_HUMAN	Fc fragment of IgG, high affinity Ib, receptor (CD64)	168	Ig-like C2-type 2.				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)|cytokine-mediated signaling pathway (GO:0019221)|Fc receptor signaling pathway (GO:0038093)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	immunoglobulin receptor activity (GO:0019763)			breast(1)|endometrium(1)|lung(2)	4	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)		Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19)	Intravenous Immunoglobulin(DB00028)	CCATGCCTGAGCAATGGTAGG	0.418																																						uc001eip.2		NaN																	0					0						c.(502-504)TGC>TGT		Fc fragment of IgG, high affinity Ib, receptor							109.0	98.0	101.0					1																	120930097		2203	4298	6501	SO:0001819	synonymous_variant	2210				interferon-gamma-mediated signaling pathway	integral to membrane|plasma membrane	IgG binding|immunoglobulin receptor activity	g.chr1:120930097G>A		CCDS72844.1, CCDS72845.1, CCDS72846.1	1p11.2	2013-01-11	2005-02-02		ENSG00000198019	ENSG00000198019		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3614	protein-coding gene	gene with protein product		601502	"""Fc fragment of IgG, high affinity Ib, receptor for (CD64)"""			8697799, 9763663	Standard	NM_001017986		Approved	CD64b	uc001eip.3	Q92637	OTTHUMG00000040903	ENST00000369384.4:c.504C>T	1.37:g.120930097G>A						FCGR1B_uc001eiq.2_Silent_p.C76C|FCGR1B_uc010oxl.1_RNA|FCGR1B_uc009whr.2_Silent_p.C168C|FCGR1B_uc009whs.2_Silent_p.C169C	p.C168C	NM_001017986	NP_001017986	Q92637	FCGRB_HUMAN		Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19)	4	554	-	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)	168			Extracellular (Potential).|Ig-like C2-type 2.		Q7KZ13|Q92638	Silent	SNP	ENST00000369384.4	37	c.504C>T	CCDS30821.1	.	.	.	.	.	.	.	.	.	.	G	0.079	-1.187972	0.01607	.	.	ENSG00000198019	ENST00000369178	.	.	.	2.16	1.22	0.21188	.	.	.	.	.	T	0.35711	0.0941	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21348	-1.0248	4	.	.	.	.	4.7453	0.13035	0.1893:0.0:0.8107:0.0	.	.	.	.	F	153	.	.	L	-	1	0	FCGR1B	120731620	1.000000	0.71417	0.948000	0.38648	0.089000	0.18198	0.874000	0.28065	0.477000	0.27464	0.184000	0.17185	CTC		0.418	FCGR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098241.1				37	230	0	0	0	0.01441	0	37	230		
HORMAD1	84072	broad.mit.edu	37	1	150676596	150676596	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:150676596G>A	ENST00000361824.2	-	12	1051	c.946C>T	c.(946-948)Cag>Tag	p.Q316*	RNU6-1042P_ENST00000384204.1_RNA|HORMAD1_ENST00000368995.4_Nonsense_Mutation_p.Q236*|HORMAD1_ENST00000368993.2_Nonsense_Mutation_p.Q316*|HORMAD1_ENST00000322343.7_Nonsense_Mutation_p.Q309*	NM_032132.4	NP_115508.2	Q86X24	HORM1_HUMAN	HORMA domain containing 1	316					blastocyst development (GO:0001824)|meiotic DNA double-strand break formation (GO:0042138)|meiotic nuclear division (GO:0007126)|meiotic recombination checkpoint (GO:0051598)|meiotic sister chromatid cohesion (GO:0051177)|oogenesis (GO:0048477)|regulation of homologous chromosome segregation (GO:0060629)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			GTTTATACCTGAGAATGAGAA	0.299																																						uc001evk.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(946-948)CAG>TAG		HORMA domain containing 1							25.0	27.0	26.0					1																	150676596		2199	4291	6490	SO:0001587	stop_gained	84072				blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus		g.chr1:150676596G>A	AL136755	CCDS967.1, CCDS55633.1	1q21.2	2009-03-09			ENSG00000143452	ENSG00000143452			25245	protein-coding gene	gene with protein product	"""cancer/testis antigen 46"""	609824				11230166, 15999985	Standard	NM_032132		Approved	DKFZP434A1315, CT46	uc001evk.2	Q86X24	OTTHUMG00000035005	ENST00000361824.2:c.946C>T	1.37:g.150676596G>A	ENSP00000355167:p.Gln316*					HORMAD1_uc001evl.1_Nonsense_Mutation_p.Q309*|HORMAD1_uc001evm.1_Nonsense_Mutation_p.Q236*	p.Q316*	NM_032132	NP_115508	Q86X24	HORM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)		12	1052	-	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		316					A6NMK2|B3KUK1|Q4G114|Q5T5I3|Q5T5I4|Q5T5I5|Q6FIC1|Q9H0K8	Nonsense_Mutation	SNP	ENST00000361824.2	37	c.946C>T	CCDS967.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.823869	0.90873	.	.	ENSG00000143452	ENST00000368995;ENST00000368993;ENST00000368992;ENST00000540570;ENST00000322343;ENST00000361824	.	.	.	5.36	4.42	0.53409	.	0.159096	0.44483	D	0.000458	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-0.859	12.2518	0.54601	0.0:0.0:0.8297:0.1703	.	.	.	.	X	236;316;245;236;309;316	.	ENSP00000326489:Q309X	Q	-	1	0	HORMAD1	148943220	1.000000	0.71417	0.999000	0.59377	0.560000	0.35617	4.056000	0.57448	1.214000	0.43395	0.650000	0.86243	CAG		0.299	HORMAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084722.1		NM_032132		5	77	0	0	0	0.021553	0	5	77		
IVL	3713	broad.mit.edu	37	1	152882824	152882824	+	Missense_Mutation	SNP	A	A	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:152882824A>T	ENST00000368764.3	+	2	615	c.551A>T	c.(550-552)gAg>gTg	p.E184V	IVL_ENST00000392667.2_Missense_Mutation_p.E38V			P07476	INVO_HUMAN	involucrin	184	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			gggcagctggagctcccagag	0.672																																						uc001fau.2		NaN																	0				ovary(3)	3						c.(550-552)GAG>GTG		involucrin							9.0	10.0	10.0					1																	152882824		2186	4274	6460	SO:0001583	missense	3713				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	g.chr1:152882824A>T	BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.551A>T	1.37:g.152882824A>T	ENSP00000357753:p.Glu184Val						p.E184V	NM_005547	NP_005538	P07476	INVO_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	597	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		184			39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].|4.		Q5T7P4	Missense_Mutation	SNP	ENST00000368764.3	37	c.551A>T	CCDS1030.1	.	.	.	.	.	.	.	.	.	.	A	10.30	1.312726	0.23908	.	.	ENSG00000163207	ENST00000368764;ENST00000392667	T;T	0.10477	3.06;2.87	3.68	-1.71	0.08133	.	.	.	.	.	T	0.03136	0.0092	M	0.64997	1.995	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.42732	-0.9434	9	0.30078	T	0.28	.	4.4035	0.11399	0.4227:0.1337:0.0:0.4436	.	184	P07476	INVO_HUMAN	V	184;38	ENSP00000357753:E184V;ENSP00000376435:E38V	ENSP00000357753:E184V	E	+	2	0	IVL	151149448	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.354000	0.07681	-0.101000	0.12219	0.358000	0.22013	GAG		0.672	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034664.1		NM_005547		3	7	0	0	0	0.004672	0	3	7		
SLC27A3	11000	broad.mit.edu	37	1	153744827	153744827	+	5'Flank	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:153744827C>G	ENST00000368661.3	+	0	0				SLC27A3_ENST00000271857.2_5'Flank|INTS3_ENST00000512605.1_Missense_Mutation_p.S705C|INTS3_ENST00000318967.2_Missense_Mutation_p.S911C|INTS3_ENST00000435409.2_Missense_Mutation_p.S911C|INTS3_ENST00000456435.1_Missense_Mutation_p.S705C|INTS3_ENST00000476843.1_3'UTR	NM_024330.1	NP_077306.1	Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3						fatty acid metabolic process (GO:0006631)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA synthase activity (GO:0004321)|ligase activity (GO:0016874)|nucleotide binding (GO:0000166)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTGAGGAGCTCTAGCAGCAAG	0.592											OREG0013827	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc009wom.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(2731-2733)TCT>TGT		integrator complex subunit 3							82.0	79.0	80.0					1																	153744827		2203	4300	6503	SO:0001631	upstream_gene_variant	65123				DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding	g.chr1:153744827C>G	BC009916	CCDS1053.1	1q21.1	2013-05-22			ENSG00000143554	ENSG00000143554		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10997	protein-coding gene	gene with protein product		604193				9671728	Standard	NM_024330		Approved	FATP3, MGC4365, ACSVL3	uc001fcz.3	Q5K4L6	OTTHUMG00000037155		1.37:g.153744827C>G	Exception_encountered		OREG0013827	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1757	INTS3_uc001fct.2_Missense_Mutation_p.S911C|INTS3_uc001fcu.2_Missense_Mutation_p.S603C|INTS3_uc001fcv.2_Missense_Mutation_p.S705C|INTS3_uc010peb.1_Missense_Mutation_p.S705C|INTS3_uc001fcw.2_Missense_Mutation_p.S424C|INTS3_uc010pec.1_Missense_Mutation_p.S424C|INTS3_uc001fcy.2_Missense_Mutation_p.S208C|INTS3_uc001fcx.2_Missense_Mutation_p.S208C	p.S911C	NM_023015	NP_075391	Q68E01	INT3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		28	2953	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		912					Q5VUQ7|Q5VUQ8|Q5VUR3|Q6ZV16|Q8N2X7|Q8TEJ0|Q96SW5|Q9BTJ5|Q9BTY5	Missense_Mutation	SNP	ENST00000368661.3	37	c.2732C>G	CCDS1053.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.191207	0.58017	.	.	ENSG00000143624	ENST00000318967;ENST00000456435;ENST00000435409;ENST00000512605	.	.	.	4.66	4.66	0.58398	.	0.063541	0.64402	D	0.000004	T	0.62024	0.2394	L	0.43152	1.355	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.997;0.999	D;D;D	0.81914	0.995;0.971;0.987	T	0.65043	-0.6264	9	0.59425	D	0.04	.	15.0958	0.72232	0.0:1.0:0.0:0.0	.	705;912;911	Q68E01-3;Q68E01;Q68E01-2	.;INT3_HUMAN;.	C	911;705;911;705	.	ENSP00000318641:S911C	S	+	2	0	INTS3	152011451	1.000000	0.71417	0.989000	0.46669	0.866000	0.49608	6.635000	0.74295	2.422000	0.82143	0.591000	0.81541	TCT		0.592	SLC27A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_024330		13	101	0	0	0	0.020292	0	13	101		
DENND4B	9909	broad.mit.edu	37	1	153906649	153906649	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:153906649C>T	ENST00000361217.4	-	19	3321	c.2903G>A	c.(2902-2904)cGa>cAa	p.R968Q	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	968					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTGTGCCCCTCGGGCACTGCC	0.642																																						uc001fdd.1		NaN																	0				ovary(1)	1						c.(2902-2904)CGA>CAA		DENN/MADD domain containing 4B							11.0	12.0	12.0					1																	153906649		1861	4085	5946	SO:0001583	missense	9909							g.chr1:153906649C>T	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2903G>A	1.37:g.153906649C>T	ENSP00000354597:p.Arg968Gln					uc001fdc.1_Intron	p.R968Q	NM_014856	NP_055671	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		19	3304	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		968					Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	37	c.2903G>A	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	C	11.61	1.689526	0.29962	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.06608	3.28;3.28	4.76	-0.624	0.11552	.	0.854175	0.10179	N	0.706099	T	0.00998	0.0033	N	0.24115	0.695	0.25101	N	0.990789	B	0.06786	0.001	B	0.04013	0.001	T	0.47661	-0.9100	10	0.07175	T	0.84	0.1754	8.5555	0.33478	0.0:0.5395:0.0:0.4605	.	968	O75064	DEN4B_HUMAN	Q	968;979	ENSP00000354597:R968Q;ENSP00000357635:R979Q	ENSP00000354597:R968Q	R	-	2	0	DENND4B	152173273	0.043000	0.20138	0.801000	0.32222	0.997000	0.91878	0.074000	0.14662	-0.275000	0.09219	0.462000	0.41574	CGA		0.642	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2		XM_375806		4	10	0	0	0	0.009096	0	4	10		
DENND4B	9909	broad.mit.edu	37	1	153910053	153910053	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:153910053C>G	ENST00000361217.4	-	15	2561	c.2143G>C	c.(2143-2145)Gag>Cag	p.E715Q		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	715					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGAAGAGACTCAAACAACTCA	0.607																																						uc001fdd.1		NaN																	0				ovary(1)	1						c.(2143-2145)GAG>CAG		DENN/MADD domain containing 4B							44.0	48.0	47.0					1																	153910053		1962	4143	6105	SO:0001583	missense	9909							g.chr1:153910053C>G	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2143G>C	1.37:g.153910053C>G	ENSP00000354597:p.Glu715Gln						p.E715Q	NM_014856	NP_055671	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		15	2544	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		715					Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	37	c.2143G>C	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.682276	0.68042	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.07216	3.21;3.21	4.59	4.59	0.56863	.	0.261182	0.36134	N	0.002775	T	0.06234	0.0161	N	0.21194	0.64	0.53688	D	0.999978	D	0.62365	0.991	P	0.58013	0.831	T	0.48258	-0.9051	10	0.11794	T	0.64	-20.5095	16.3429	0.83101	0.0:1.0:0.0:0.0	.	715	O75064	DEN4B_HUMAN	Q	715;726	ENSP00000354597:E715Q;ENSP00000357635:E726Q	ENSP00000354597:E715Q	E	-	1	0	DENND4B	152176677	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.061000	0.76699	2.366000	0.80165	0.563000	0.77884	GAG		0.607	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2		XM_375806		7	32	0	0	0	0.001984	0	7	32		
DENND4B	9909	broad.mit.edu	37	1	153910278	153910278	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:153910278C>T	ENST00000361217.4	-	14	2445	c.2027G>A	c.(2026-2028)gGa>gAa	p.G676E		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	676					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GAGCTCACTTCCTGACAGCTC	0.542																																						uc001fdd.1		NaN																	0				ovary(1)	1						c.(2026-2028)GGA>GAA		DENN/MADD domain containing 4B							129.0	129.0	129.0					1																	153910278		1997	4191	6188	SO:0001583	missense	9909							g.chr1:153910278C>T	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2027G>A	1.37:g.153910278C>T	ENSP00000354597:p.Gly676Glu						p.G676E	NM_014856	NP_055671	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		14	2428	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		676					Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	37	c.2027G>A	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.432377	0.43224	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.05786	3.39;3.39	5.18	5.18	0.71444	.	0.294134	0.37348	N	0.002126	T	0.03608	0.0103	L	0.36672	1.1	0.36028	D	0.839212	P	0.47762	0.9	P	0.44518	0.452	T	0.54669	-0.8259	10	0.14252	T	0.57	-11.1357	17.6181	0.88073	0.0:1.0:0.0:0.0	.	676	O75064	DEN4B_HUMAN	E	676;687	ENSP00000354597:G676E;ENSP00000357635:G687E	ENSP00000354597:G676E	G	-	2	0	DENND4B	152176902	0.173000	0.23056	0.982000	0.44146	0.969000	0.65631	3.783000	0.55409	2.679000	0.91253	0.655000	0.94253	GGA		0.542	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2		XM_375806		28	177	0	0	0	0.027356	0	28	177		
MEX3A	92312	broad.mit.edu	37	1	156047421	156047421	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:156047421C>T	ENST00000532414.2	-	2	506	c.507G>A	c.(505-507)ccG>ccA	p.P169P	AL355388.1_ENST00000410679.1_RNA|MEX3A_ENST00000442784.1_5'UTR	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	169	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					CGCCCCTCACCGGTGTCTTGA	0.587																																						uc001fnd.3		NaN																	0					0						c.(505-507)CCG>CCA		MEX3A protein							36.0	39.0	38.0					1																	156047421		2128	4260	6388	SO:0001819	synonymous_variant	92312					cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding	g.chr1:156047421C>T	AK024097	CCDS53377.1	1q22	2013-09-24	2013-08-21	2007-07-18	ENSG00000254726	ENSG00000254726		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	33482	protein-coding gene	gene with protein product		611007	"""ring finger and KH domain containing 4"", ""mex-3 homolog A (C. elegans)"""	RKHD4		17267406	Standard	NM_001093725		Approved		uc001fnd.4	A1L020	OTTHUMG00000017465	ENST00000532414.2:c.507G>A	1.37:g.156047421C>T							p.P169P	NM_001093725	NP_001087194	A1L020	MEX3A_HUMAN			2	507	-	Hepatocellular(266;0.158)|all_neural(408;0.195)		169			KH 1.			Silent	SNP	ENST00000532414.2	37	c.507G>A	CCDS53377.1																																																																																				0.587	MEX3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046218.3		NM_001093725		10	16	0	0	0	0.008291	0	10	16		
IQGAP3	128239	broad.mit.edu	37	1	156521553	156521553	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:156521553G>A	ENST00000361170.2	-	15	1688	c.1678C>T	c.(1678-1680)Cct>Tct	p.P560S		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	560					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGGGCGACAGGGAGGCTGACA	0.572																																						uc001fpf.2		NaN																	0				ovary(5)|skin(1)	6						c.(1678-1680)CCT>TCT		IQ motif containing GTPase activating protein 3							75.0	66.0	69.0					1																	156521553		2203	4300	6503	SO:0001583	missense	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156521553G>A	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.1678C>T	1.37:g.156521553G>A	ENSP00000354451:p.Pro560Ser					IQGAP3_uc009wsb.1_Missense_Mutation_p.P517S	p.P560S	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN			15	1753	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		560					Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	37	c.1678C>T	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	G	5.026	0.190530	0.09547	.	.	ENSG00000183856	ENST00000361170	T	0.05513	3.43	4.76	1.62	0.23740	.	0.386809	0.26136	N	0.026134	T	0.01092	0.0036	L	0.27053	0.805	0.20563	N	0.999883	B	0.09022	0.002	B	0.08055	0.003	T	0.48536	-0.9027	10	0.16896	T	0.51	-1.2315	4.9208	0.13869	0.0841:0.1475:0.6162:0.1522	.	560	Q86VI3	IQGA3_HUMAN	S	560	ENSP00000354451:P560S	ENSP00000354451:P560S	P	-	1	0	IQGAP3	154788177	0.446000	0.25665	0.541000	0.28102	0.778000	0.44026	1.075000	0.30716	0.436000	0.26393	0.491000	0.48974	CCT		0.572	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1		NM_178229		25	49	0	0	0	0.027356	0	25	49		
PRRC2C	23215	broad.mit.edu	37	1	171506532	171506532	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:171506532G>A	ENST00000338920.4	+	15	2655	c.2418G>A	c.(2416-2418)ctG>ctA	p.L806L	PRRC2C_ENST00000367742.3_Silent_p.L808L|PRRC2C_ENST00000392078.3_Silent_p.L808L|PRRC2C_ENST00000426496.2_Silent_p.L806L	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	806					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										CTCGTATGCTGTGGGGGTCAG	0.458																																						uc010pmg.1		NaN																	0					0						c.(2416-2418)CTG>CTA		HBxAg transactivated protein 2							62.0	50.0	54.0					1																	171506532		2203	4300	6503	SO:0001819	synonymous_variant	23215						protein C-terminus binding	g.chr1:171506532G>A	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.2418G>A	1.37:g.171506532G>A						BAT2L2_uc010pmh.1_5'Flank	p.L806L	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN			15	2684	+			806					Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Silent	SNP	ENST00000338920.4	37	c.2418G>A	CCDS1296.2																																																																																				0.458	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4		NM_015172		5	31	0	0	0	0.014758	0	5	31		
PIGC	5279	broad.mit.edu	37	1	172410895	172410895	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:172410895C>T	ENST00000367728.1	-	1	2331	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K	PIGC_ENST00000258324.1_Missense_Mutation_p.E290K|PIGC_ENST00000484368.1_Intron|C1orf105_ENST00000367727.4_Intron|PIGC_ENST00000344529.4_Missense_Mutation_p.E290K			Q92535	PIGC_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class C	290					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)|phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						GACAAGTCTTCCTTGATTTCA	0.388																																						uc001gil.2		NaN																	0				lung(1)	1						c.(868-870)GAA>AAA		phosphatidylinositol glycan, class C							118.0	127.0	124.0					1																	172410895		2203	4300	6503	SO:0001583	missense	5279				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity	g.chr1:172410895C>T	BC006539	CCDS1302.1	1q23-q25	2013-02-26	2006-06-28		ENSG00000135845	ENSG00000135845	2.4.1.198	"""Phosphatidylinositol glycan anchor biosynthesis"""	8960	protein-coding gene	gene with protein product	"""phosphatidylinositol N-acetylglucosaminyltransferase"""	601730	"""phosphatidylinositol glycan, class C"""			8806613, 9325057	Standard	NM_153747		Approved		uc001gio.3	Q92535	OTTHUMG00000034751	ENST00000367728.1:c.868G>A	1.37:g.172410895C>T	ENSP00000356702:p.Glu290Lys					PIGC_uc001gii.1_Intron|PIGC_uc001gij.1_Intron|C1orf105_uc001gik.2_Intron|PIGC_uc001gin.2_Missense_Mutation_p.E290K|PIGC_uc001gio.2_Missense_Mutation_p.E290K	p.E290K	NM_153747	NP_714969	Q92535	PIGC_HUMAN			2	1149	-			290					O14491	Missense_Mutation	SNP	ENST00000367728.1	37	c.868G>A	CCDS1302.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.926975	0.73327	.	.	ENSG00000135845	ENST00000344529;ENST00000367728;ENST00000258324	T;T;T	0.43688	0.94;0.94;0.94	5.4	5.4	0.78164	.	0.053180	0.64402	D	0.000001	T	0.21509	0.0518	L	0.44542	1.39	0.80722	D	1	B	0.17667	0.023	B	0.18871	0.023	T	0.08785	-1.0705	10	0.12766	T	0.61	-3.5601	17.7521	0.88438	0.0:1.0:0.0:0.0	.	290	Q92535	PIGC_HUMAN	K	290	ENSP00000356701:E290K;ENSP00000356702:E290K;ENSP00000258324:E290K	ENSP00000258324:E290K	E	-	1	0	PIGC	170677518	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.149000	0.77396	2.510000	0.84645	0.655000	0.94253	GAA		0.388	PIGC-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084068.1		NM_153747		49	543	0	0	0	0.01441	0	49	543		
RABGAP1L	9910	broad.mit.edu	37	1	174247872	174247872	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:174247872C>G	ENST00000251507.4	+	10	1452	c.1278C>G	c.(1276-1278)ttC>ttG	p.F426L	RABGAP1L_ENST00000367689.3_Missense_Mutation_p.F73L|RABGAP1L_ENST00000357444.6_Missense_Mutation_p.F389L	NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	0										NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						TTTGGTATTTCAGCAGAAAGA	0.423																																						uc001gjx.2		NaN																	0				ovary(2)|lung(1)|kidney(1)	4						c.(1276-1278)TTC>TTG		RAB GTPase activating protein 1-like isoform A							149.0	153.0	152.0					1																	174247872		2203	4300	6503	SO:0001583	missense	9910				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity	g.chr1:174247872C>G	AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000251507.4:c.1278C>G	1.37:g.174247872C>G	ENSP00000251507:p.Phe426Leu					RABGAP1L_uc009wwq.1_Missense_Mutation_p.F438L|RABGAP1L_uc001gjw.2_Missense_Mutation_p.F389L|RABGAP1L_uc001gjy.2_Missense_Mutation_p.F94L|RABGAP1L_uc001gjz.2_Missense_Mutation_p.F73L	p.F426L	NM_014857	NP_055672	Q5R372	RBG1L_HUMAN			10	1473	+			426					B7ZAA4	Missense_Mutation	SNP	ENST00000251507.4	37	c.1278C>G	CCDS1314.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.080964	0.76528	.	.	ENSG00000152061	ENST00000357444;ENST00000367689;ENST00000251507;ENST00000457696;ENST00000367692	T;T;T	0.46819	0.86;3.49;0.86	5.2	3.34	0.38264	.	0.000000	0.85682	D	0.000000	T	0.61085	0.2319	L	0.58969	1.84	0.80722	D	1	D;D;P;P;D	0.71674	0.998;0.982;0.751;0.751;0.998	D;D;B;B;D	0.76071	0.98;0.952;0.411;0.411;0.987	T	0.57248	-0.7844	10	0.38643	T	0.18	.	11.3319	0.49482	0.0:0.8524:0.0:0.1476	.	438;73;426;426;389	B7WPG6;Q5JZA9;F1LJ00;Q5R372;Q5R372-2	.;.;.;RBG1L_HUMAN;.	L	389;73;426;438;438	ENSP00000350027:F389L;ENSP00000251507:F426L;ENSP00000403136:F438L	ENSP00000251507:F426L	F	+	3	2	RABGAP1L	172514495	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.996000	0.40776	0.603000	0.29913	0.305000	0.20034	TTC		0.423	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084497.1		NM_001243765		148	320	0	0	0	0.01441	0	148	320		
FAM129A	116496	broad.mit.edu	37	1	184792404	184792404	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:184792404C>G	ENST00000367511.3	-	8	1075	c.882G>C	c.(880-882)ttG>ttC	p.L294F	RNU7-13P_ENST00000516413.1_RNA|FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	294					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						ATTCCTCCTTCAAGGCACTTA	0.458																																						uc001gra.2		NaN																	0				ovary(3)|skin(1)	4						c.(880-882)TTG>TTC		niban protein isoform 2							104.0	92.0	96.0					1																	184792404		2203	4300	6503	SO:0001583	missense	116496				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		g.chr1:184792404C>G	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.882G>C	1.37:g.184792404C>G	ENSP00000356481:p.Leu294Phe					FAM129A_uc001grb.1_Missense_Mutation_p.L57F|FAM129A_uc009wyh.1_Missense_Mutation_p.L122F|FAM129A_uc009wyi.1_Missense_Mutation_p.L92F	p.L294F	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN			8	1076	-			294					Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	ENST00000367511.3	37	c.882G>C	CCDS1364.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.580353	0.86645	.	.	ENSG00000135842	ENST00000367511	T	0.17691	2.26	5.59	4.68	0.58851	.	0.071523	0.64402	D	0.000019	T	0.34629	0.0904	L	0.52126	1.63	0.52501	D	0.999958	D	0.89917	1.0	D	0.91635	0.999	T	0.03268	-1.1054	10	0.48119	T	0.1	-15.3597	12.7684	0.57405	0.0:0.9244:0.0:0.0756	.	294	Q9BZQ8	NIBAN_HUMAN	F	294	ENSP00000356481:L294F	ENSP00000356481:L294F	L	-	3	2	FAM129A	183059027	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.909000	0.56363	1.363000	0.46019	0.655000	0.94253	TTG		0.458	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1				15	242	0	0	0	0.020292	0	15	242		
ADORA1	134	broad.mit.edu	37	1	203134960	203134960	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:203134960G>A	ENST00000367236.4	+	3	1834	c.913G>A	c.(913-915)Gac>Aac	p.D305N	ADORA1_ENST00000337894.4_Missense_Mutation_p.D305N|ADORA1_ENST00000367235.1_3'UTR|ADORA1_ENST00000309502.3_Missense_Mutation_p.D305N|ADORA1_ENST00000472535.1_3'UTR	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	305					activation of MAPKK activity (GO:0000186)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cognition (GO:0050890)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood pressure (GO:0045776)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of heart contraction (GO:0045822)|negative regulation of hormone secretion (GO:0046888)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of mucus secretion (GO:0070256)|negative regulation of neurotrophin production (GO:0032900)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of vasodilation (GO:0045908)|nervous system development (GO:0007399)|phagocytosis (GO:0006909)|positive regulation of blood pressure (GO:0045777)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of nucleoside transport (GO:0032244)|positive regulation of peptide secretion (GO:0002793)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of protein dephosphorylation (GO:0035307)|protein targeting to membrane (GO:0006612)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of glomerular filtration (GO:0003093)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|relaxation of vascular smooth muscle (GO:0060087)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|temperature homeostasis (GO:0001659)	asymmetric synapse (GO:0032279)|axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled adenosine receptor activity (GO:0001609)|phospholipase C activity (GO:0004629)|purine nucleoside binding (GO:0001883)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Adenosine(DB00640)|Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Gabapentin(DB00996)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Theobromine(DB01412)|Theophylline(DB00277)	GATTTGGAATGACCATTTCCG	0.572																																						uc001gze.1		NaN																	0				large_intestine(1)	1						c.(913-915)GAC>AAC		adenosine A1 receptor	Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)						155.0	116.0	129.0					1																	203134960		2203	4300	6503	SO:0001583	missense	134				induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane		g.chr1:203134960G>A	BC026340	CCDS1434.1	1q32.1	2012-08-08			ENSG00000163485	ENSG00000163485		"""GPCR / Class A : Adenosine receptors"""	262	protein-coding gene	gene with protein product		102775				1662665, 2541503	Standard	NM_001048230		Approved	RDC7	uc001gzf.1	P30542	OTTHUMG00000042125	ENST00000367236.4:c.913G>A	1.37:g.203134960G>A	ENSP00000356205:p.Asp305Asn					FMOD_uc010pqi.1_Intron|ADORA1_uc001gzf.1_Missense_Mutation_p.D305N|ADORA1_uc010pqg.1_Missense_Mutation_p.D237N|ADORA1_uc009xak.1_3'UTR|ADORA1_uc010pqh.1_Missense_Mutation_p.D338N	p.D305N	NM_000674	NP_000665	P30542	AA1R_HUMAN			4	1346	+			305			Cytoplasmic (Potential).		A6NFY5|A6NGP4|A8K1L3|B3KXQ4|D2CGD0|Q6FHK3|Q8TAM8	Missense_Mutation	SNP	ENST00000367236.4	37	c.913G>A	CCDS1434.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.311584	0.40895	.	.	ENSG00000163485	ENST00000309502;ENST00000367236;ENST00000337894	T;T;T	0.36340	1.26;1.26;1.26	5.37	4.41	0.53225	.	0.315125	0.35585	N	0.003113	T	0.19127	0.0459	N	0.22421	0.69	0.35758	D	0.819969	B;P;B	0.35174	0.304;0.488;0.088	B;B;B	0.28709	0.05;0.093;0.028	T	0.17319	-1.0373	10	0.15499	T	0.54	-49.7693	9.5258	0.39162	0.0904:0.2134:0.6961:0.0	.	338;237;305	B7Z379;B7Z1L9;P30542	.;.;AA1R_HUMAN	N	305	ENSP00000308549:D305N;ENSP00000356205:D305N;ENSP00000338435:D305N	ENSP00000308549:D305N	D	+	1	0	ADORA1	201401583	0.995000	0.38212	0.961000	0.40146	0.960000	0.62799	2.798000	0.47884	2.505000	0.84491	0.655000	0.94253	GAC		0.572	ADORA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100273.1		NM_000674		16	38	0	0	0	0.004007	0	16	38		
PLXNA2	5362	broad.mit.edu	37	1	208227794	208227794	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:208227794G>C	ENST00000367033.3	-	14	3585	c.2828C>G	c.(2827-2829)aCg>aGg	p.T943R		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	943	IPT/TIG 1.				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)		ATGGGACTTCGTCATGAACTC	0.592																																						uc001hgz.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(2827-2829)ACG>AGG		plexin A2 precursor							106.0	84.0	91.0					1																	208227794		2203	4300	6503	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208227794G>C	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.2828C>G	1.37:g.208227794G>C	ENSP00000356000:p.Thr943Arg						p.T943R	NM_025179	NP_079455	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	14	3586	-			943			Extracellular (Potential).|IPT/TIG 1.		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.2828C>G	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	G	32	5.114986	0.94339	.	.	ENSG00000076356	ENST00000367033	T	0.75821	-0.97	5.38	5.38	0.77491	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.096346	0.64402	D	0.000001	T	0.76183	0.3952	L	0.31578	0.945	0.50813	D	0.999899	P	0.49307	0.922	P	0.53450	0.726	T	0.78127	-0.2325	10	0.56958	D	0.05	.	19.1515	0.93491	0.0:0.0:1.0:0.0	.	943	O75051	PLXA2_HUMAN	R	943	ENSP00000356000:T943R	ENSP00000356000:T943R	T	-	2	0	PLXNA2	206294417	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.060000	0.93907	2.514000	0.84764	0.655000	0.94253	ACG		0.592	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6		NM_025179		18	55	0	0	0	0.00499	0	18	55		
USH2A	7399	broad.mit.edu	37	1	216348659	216348659	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:216348659C>T	ENST00000307340.3	-	21	4948	c.4562G>A	c.(4561-4563)cGt>cAt	p.R1521H	USH2A_ENST00000366943.2_Missense_Mutation_p.R1521H|USH2A_ENST00000366942.3_Missense_Mutation_p.R1521H	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1521	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)		TCCTATGAAACGGATTCCTTT	0.428										HNSCC(13;0.011)																												uc001hku.1		NaN																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(4561-4563)CGT>CAT		usherin isoform B							104.0	80.0	88.0					1																	216348659		2203	4300	6503	SO:0001583	missense	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.chr1:216348659C>T	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.4562G>A	1.37:g.216348659C>T	ENSP00000305941:p.Arg1521His	HNSCC(13;0.011)				USH2A_uc001hkv.2_Missense_Mutation_p.R1521H	p.R1521H	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	21	4949	-			1521			Laminin G-like 1.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.4562G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.828464	0.90955	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.79653	-1.29;-1.29;2.01	5.62	4.71	0.59529	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (1);	0.149427	0.31102	N	0.008248	D	0.82412	0.5031	L	0.61036	1.89	0.51767	D	0.999937	D;P	0.63046	0.992;0.647	P;B	0.49561	0.615;0.07	D	0.83371	0.0007	10	0.49607	T	0.09	.	14.6939	0.69107	0.0:0.9302:0.0:0.0698	.	1521;1521	O75445-2;O75445	.;USH2A_HUMAN	H	1521	ENSP00000305941:R1521H;ENSP00000355910:R1521H;ENSP00000355909:R1521H	ENSP00000305941:R1521H	R	-	2	0	USH2A	214415282	1.000000	0.71417	0.058000	0.19502	0.609000	0.37215	3.930000	0.56522	1.361000	0.45981	-0.170000	0.13304	CGT		0.428	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1		NM_007123		17	48	0	0	0	0.00499	0	17	48		
HHIPL2	79802	broad.mit.edu	37	1	222696178	222696178	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:222696178G>A	ENST00000343410.6	-	9	1998	c.1940C>T	c.(1939-1941)tCt>tTt	p.S647F	HHIPL2_ENST00000473144.1_5'UTR	NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	647					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TGCACTGGAAGATTTTCTAGC	0.433																																						uc001hnh.1		NaN																	0				ovary(1)	1						c.(1939-1941)TCT>TTT		HHIP-like 2 precursor							99.0	103.0	102.0					1																	222696178		2203	4300	6503	SO:0001583	missense	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222696178G>A	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.1940C>T	1.37:g.222696178G>A	ENSP00000342118:p.Ser647Phe						p.S647F	NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	9	1998	-			647					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	ENST00000343410.6	37	c.1940C>T	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	G	1.508	-0.550139	0.03996	.	.	ENSG00000143512	ENST00000343410	T	0.14893	2.47	5.5	0.561	0.17285	.	2.408150	0.01541	N	0.019227	T	0.11707	0.0285	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.31251	-0.9950	10	0.51188	T	0.08	10.1625	7.7321	0.28793	0.3982:0.0:0.6018:0.0	.	647	Q6UWX4	HIPL2_HUMAN	F	647	ENSP00000342118:S647F	ENSP00000342118:S647F	S	-	2	0	HHIPL2	220762801	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	0.074000	0.14662	0.050000	0.15949	-0.793000	0.03317	TCT		0.433	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2		NM_024746		22	150	0	0	0	0.014323	0	22	150		
OBSCN	84033	broad.mit.edu	37	1	228464926	228464926	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:228464926C>T	ENST00000422127.1	+	24	6710	c.6666C>T	c.(6664-6666)ctC>ctT	p.L2222L	RP5-1139B12.3_ENST00000602947.1_RNA|RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.L2222L|OBSCN_ENST00000359599.6_Silent_p.L1069L|OBSCN_ENST00000570156.2_Silent_p.L2597L|OBSCN_ENST00000366709.4_5'UTR|RP5-1139B12.2_ENST00000602517.1_RNA	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2222	Ig-like 22.				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)				GCAGGAGCCTCACCATTTACC	0.637																																						uc009xez.1		NaN																	0				stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(6664-6666)CTC>CTT		obscurin, cytoskeletal calmodulin and							66.0	84.0	78.0					1																	228464926		2173	4265	6438	SO:0001819	synonymous_variant	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.chr1:228464926C>T	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.6666C>T	1.37:g.228464926C>T						OBSCN_uc001hsn.2_Silent_p.L2222L|OBSCN_uc001hsp.1_5'Flank	p.L2222L	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			24	6710	+		Prostate(94;0.0405)	2222			Ig-like 22.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.6666C>T	CCDS58065.1																																																																																				0.637	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_052843		6	7	0	0	0	0.001984	0	6	7		
OR2C3	81472	broad.mit.edu	37	1	247694861	247694861	+	Missense_Mutation	SNP	G	G	A	rs147306837		TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:247694861G>A	ENST00000366487.3	-	2	1314	c.953C>T	c.(952-954)gCg>gTg	p.A318V	GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366490.3_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	318						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A317V(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			CTAAATTTGCGCCAGCTTGCC	0.512																																						uc009xgy.2		NaN																	1	Substitution - Missense(1)		endometrium(1)	ovary(1)|skin(1)	2						c.(952-954)GCG>GTG		olfactory receptor, family 2, subfamily C,							56.0	53.0	54.0					1																	247694861		2203	4300	6503	SO:0001583	missense	81472				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247694861G>A	BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"""GPCR / Class A : Olfactory receptors"""	15005	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily C, member 4"""	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.953C>T	1.37:g.247694861G>A	ENSP00000355443:p.Ala318Val					C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank	p.A318V	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0241)		2	1315	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	318			Cytoplasmic (Potential).		Q5JQS4|Q6IEZ1|Q8NGW7	Missense_Mutation	SNP	ENST00000366487.3	37	c.953C>T	CCDS1634.2	.	.	.	.	.	.	.	.	.	.	G	11.01	1.514533	0.27123	.	.	ENSG00000196242	ENST00000366487	T	0.00472	7.19	3.56	-2.08	0.07254	.	.	.	.	.	T	0.00178	0.0005	N	0.08118	0	0.09310	N	1	B	0.17465	0.022	B	0.06405	0.002	T	0.27571	-1.0070	9	0.16896	T	0.51	.	0.5934	0.00731	0.1689:0.3067:0.1824:0.342	.	318	Q8N628	OR2C3_HUMAN	V	318	ENSP00000355443:A318V	ENSP00000355443:A318V	A	-	2	0	OR2C3	245761484	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.285000	0.08410	-0.627000	0.05589	-0.867000	0.03001	GCG		0.512	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2		NM_198074		16	42	0	0	0	0.004007	0	16	42		
AKR1E2	83592	broad.mit.edu	37	10	4889679	4889679	+	Splice_Site	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr10:4889679G>A	ENST00000298375.7	+	10	991		c.e10-1		AKR1E2_ENST00000334019.4_Splice_Site|AKR1E2_ENST00000345253.5_Splice_Site	NM_001040177.2	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	1,5-anhydro-D-fructose reductase activity (GO:0050571)			NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						CTGTTTTTCAGAACTAAAAAT	0.343																																					NSCLC(43;343 1097 20371 28813 45509)	uc001ihi.2		NaN																	0					0						c.e10-1		aldo-keto reductase family 1, member E2							88.0	85.0	86.0					10																	4889679		2203	4300	6503	SO:0001630	splice_region_variant	83592					cytoplasm	1,5-anhydro-D-fructose reductase activity	g.chr10:4889679G>A	AB040820	CCDS31134.1, CCDS59210.1, CCDS59209.1	10p15.2	2009-09-09	2009-09-09	2009-09-09	ENSG00000165568	ENSG00000165568		"""Aldo-keto reductases"""	23437	protein-coding gene	gene with protein product			"""aldo-keto reductase family 1, member C-like 2"""	AKRDC1, AKR1CL2			Standard	NM_001271021		Approved	MGC10612	uc001ihi.4	Q96JD6	OTTHUMG00000017577	ENST00000298375.7:c.921-1G>A	10.37:g.4889679G>A						AKR1E2_uc001ihl.1_Intron|AKR1E2_uc009xhw.2_Splice_Site_p.I209_splice|AKR1E2_uc001ihj.2_Splice_Site|AKR1E2_uc001ihk.2_Splice_Site_p.I250_splice	p.I307_splice	NM_001040177	NP_001035267	Q96JD6	AKCL2_HUMAN			10	1036	+								Q86Z16|Q86Z17|Q86Z18|Q9BU71	Splice_Site	SNP	ENST00000298375.7	37	c.921_splice	CCDS31134.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.217029	0.58560	.	.	ENSG00000165568	ENST00000298375;ENST00000334019;ENST00000345253	.	.	.	4.36	4.36	0.52297	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7932	0.69857	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AKR1E2	4879679	1.000000	0.71417	0.977000	0.42913	0.818000	0.46254	4.830000	0.62745	2.430000	0.82344	0.561000	0.74099	.		0.343	AKR1E2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046520.4		NM_031436	Intron	14	106	0	0	0	0.024245	0	14	106		
PFKFB3	5209	broad.mit.edu	37	10	6262698	6262698	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr10:6262698G>T	ENST00000379775.4	+	8	1031	c.701G>T	c.(700-702)cGc>cTc	p.R234L	PFKFB3_ENST00000317350.4_Missense_Mutation_p.R234L|PFKFB3_ENST00000379782.3_Missense_Mutation_p.R234L|PFKFB3_ENST00000379789.4_Missense_Mutation_p.R214L|PFKFB3_ENST00000379785.1_Missense_Mutation_p.R234L|PFKFB3_ENST00000540253.1_Missense_Mutation_p.R248L|PFKFB3_ENST00000360521.2_Missense_Mutation_p.R234L|PFKFB3_ENST00000536985.1_3'UTR	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	234	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						ATCCAGAGCCGCATCGTGTAC	0.622																																						uc001ije.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(700-702)CGC>CTC		6-phosphofructo-2-kinase/fructose-2,							159.0	130.0	140.0					10																	6262698		2203	4300	6503	SO:0001583	missense	5209				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	g.chr10:6262698G>T		CCDS7078.1, CCDS44353.1, CCDS60479.1	10p15.1	2008-05-14			ENSG00000170525	ENSG00000170525			8874	protein-coding gene	gene with protein product		605319				9146922, 10072580	Standard	NM_004566		Approved		uc001ije.3	Q16875	OTTHUMG00000017621	ENST00000379775.4:c.701G>T	10.37:g.6262698G>T	ENSP00000369100:p.Arg234Leu					PFKFB3_uc001ijd.2_Missense_Mutation_p.R214L|PFKFB3_uc009xii.2_RNA|PFKFB3_uc010qaw.1_Missense_Mutation_p.R248L|PFKFB3_uc001ijf.2_Missense_Mutation_p.R234L	p.R234L	NM_004566	NP_004557	Q16875	F263_HUMAN			8	1085	+			234			6-phosphofructo-2-kinase.		B7Z955|O43622|O75902|Q5VX15|Q5VX18|Q5VX19	Missense_Mutation	SNP	ENST00000379775.4	37	c.701G>T	CCDS7078.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.301760	0.81136	.	.	ENSG00000170525	ENST00000379789;ENST00000540253;ENST00000317350;ENST00000379785;ENST00000379782;ENST00000360521;ENST00000379775;ENST00000358499	.	.	.	5.93	4.09	0.47781	6-phosphofructo-2-kinase (1);	0.146989	0.53938	D	0.000046	T	0.79958	0.4536	M	0.88704	2.975	0.58432	D	0.999992	P;P;D;P	0.76494	0.948;0.951;0.999;0.92	P;B;D;B	0.79784	0.747;0.379;0.993;0.247	T	0.81389	-0.0955	9	0.87932	D	0	-1.4741	9.7731	0.40603	0.2085:0.0:0.7915:0.0	.	248;234;234;214	B7Z955;Q16875-2;Q16875;Q5VX15	.;.;F263_HUMAN;.	L	214;248;234;234;234;234;234;234	.	ENSP00000369105:R234L	R	+	2	0	PFKFB3	6302704	1.000000	0.71417	0.919000	0.36401	0.998000	0.95712	4.809000	0.62591	0.851000	0.35264	0.561000	0.74099	CGC		0.622	PFKFB3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046647.1				16	115	1	0	2.35188e-11	0.006122	2.49175e-11	16	115		
FAM171A1	221061	broad.mit.edu	37	10	15325988	15325988	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr10:15325988C>T	ENST00000378116.4	-	2	220	c.214G>A	c.(214-216)Ggc>Agc	p.G72S		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	72						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						AAGGCGACGCCATCAGTCCCC	0.577																																						uc001iob.2		NaN																	0				ovary(2)|breast(1)|skin(1)	4						c.(214-216)GGC>AGC		hypothetical protein LOC221061 precursor							83.0	73.0	76.0					10																	15325988		2203	4300	6503	SO:0001583	missense	221061					integral to membrane		g.chr10:15325988C>T	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.214G>A	10.37:g.15325988C>T	ENSP00000367356:p.Gly72Ser						p.G72S	NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN			2	221	-			72			Extracellular (Potential).		D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	ENST00000378116.4	37	c.214G>A	CCDS31154.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.022386	0.75275	.	.	ENSG00000148468	ENST00000378116;ENST00000378114;ENST00000396781;ENST00000455654	T;T	0.65178	-0.14;-0.14	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.81088	0.4750	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83835	0.0254	10	0.87932	D	0	-31.4098	18.806	0.92037	0.0:1.0:0.0:0.0	.	72	Q5VUB5	F1711_HUMAN	S	72;72;73;72	ENSP00000367356:G72S;ENSP00000407796:G72S	ENSP00000367354:G72S	G	-	1	0	FAM171A1	15365994	1.000000	0.71417	0.993000	0.49108	0.077000	0.17291	7.410000	0.80065	2.510000	0.84645	0.591000	0.81541	GGC		0.577	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1		XM_167709		29	21	0	0	0	0.027356	0	29	21		
ZNF33B	7582	broad.mit.edu	37	10	43088814	43088815	+	Missense_Mutation	DNP	AT	AT	TA	rs149558146		TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr10:43088814_43088815AT>TA	ENST00000359467.3	-	5	1697_1698	c.1583_1584AT>TA	c.(1582-1584)tAT>tTA	p.Y528L	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	528					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						TCCCACATTCATAACATTCATA	0.411																																					Melanoma(137;1247 1767 16772 25727 43810)	uc001jaf.1		NaN																	0					0						c.(1582-1584)TAT>TTA		zinc finger protein 33B																																				SO:0001583	missense	7582					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:43088814_43088815AT>TA	X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"""Zinc fingers, C2H2-type"", ""-"""	13097	protein-coding gene	gene with protein product		194522	"""zinc finger protein 33b (KOX 31)"", ""zinc finger protein 11B"""	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.1583_1584delinsTA	10.37:g.43088814_43088815delinsTA	ENSP00000352444:p.Tyr528Leu					ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.Y416L|ZNF33B_uc001jad.2_Intron	p.Y528L	NM_006955	NP_008886	Q06732	ZN33B_HUMAN			5	1698_1699	-			528			C2H2-type 8.		Q06731|Q32MA2|Q86XY8|Q8NDW3	Missense_Mutation	DNP	ENST00000359467.3	37	c.1583_1584AT>TA	CCDS7198.1																																																																																				0.411	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_006955		49	104	0	0	0	0.004672	0	49	104		
PPA1	5464	broad.mit.edu	37	10	71978536	71978536	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr10:71978536G>C	ENST00000373232.3	-	3	260	c.161C>G	c.(160-162)tCt>tGt	p.S54C	PPA1_ENST00000495346.1_5'UTR|PPA1_ENST00000608321.1_Missense_Mutation_p.S54C	NM_021129.3	NP_066952.1	Q15181	IPYR_HUMAN	pyrophosphatase (inorganic) 1	54					diphosphate metabolic process (GO:0071344)|gene expression (GO:0010467)|phosphate-containing compound metabolic process (GO:0006796)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	inorganic diphosphatase activity (GO:0004427)|magnesium ion binding (GO:0000287)			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(2)	10						TTTTGCATTAGACCAGCGTGG	0.403																																						uc001jqv.1		NaN																	0				breast(1)	1						c.(160-162)TCT>TGT		pyrophosphatase 1							103.0	86.0	92.0					10																	71978536		2203	4300	6503	SO:0001583	missense	5464				diphosphate metabolic process|tRNA aminoacylation for protein translation	cytosol	inorganic diphosphatase activity|magnesium ion binding	g.chr10:71978536G>C	AF154065	CCDS7299.1	10q11.1-q24	2012-10-02	2005-10-07	2005-10-07	ENSG00000180817	ENSG00000180817	3.6.1.1		9226	protein-coding gene	gene with protein product	"""cytosolic inorganic pyrophosphatase"", ""inorganic pyrophosphatase 1"", ""pyrophosphate phospho-hydrolase"""	179030	"""pyrophosphatase (inorganic)"""	PP		10542310, 975879	Standard	NM_021129		Approved	SID6-8061, Ppase, IOPPP, PP1	uc001jqv.1	Q15181	OTTHUMG00000018399	ENST00000373232.3:c.161C>G	10.37:g.71978536G>C	ENSP00000362329:p.Ser54Cys						p.S54C	NM_021129	NP_066952	Q15181	IPYR_HUMAN			3	268	-			54					Q2M348|Q5SQT7|Q6P7P4|Q9UQJ5|Q9Y5B1	Missense_Mutation	SNP	ENST00000373232.3	37	c.161C>G	CCDS7299.1	.	.	.	.	.	.	.	.	.	.	G	31	5.091612	0.94149	.	.	ENSG00000180817	ENST00000373232;ENST00000373230	T;T	0.52754	0.65;0.65	6.06	6.06	0.98353	.	0.096322	0.64402	D	0.000001	T	0.72953	0.3525	M	0.85630	2.765	0.50632	D	0.99988	D	0.67145	0.996	D	0.67231	0.95	T	0.75789	-0.3194	10	0.87932	D	0	-24.5353	19.1847	0.93639	0.0:0.0:1.0:0.0	.	54	Q15181	IPYR_HUMAN	C	54	ENSP00000362329:S54C;ENSP00000362327:S54C	ENSP00000362327:S54C	S	-	2	0	PPA1	71648542	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	7.650000	0.83521	2.882000	0.98803	0.655000	0.94253	TCT		0.403	PPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048490.2		NM_021129		12	16	0	0	0	0.016723	0	12	16		
OIT3	170392	broad.mit.edu	37	10	74692170	74692170	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr10:74692170G>T	ENST00000334011.5	+	9	1744	c.1526G>T	c.(1525-1527)tGt>tTt	p.C509F		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	509	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					CGTTCCCGCTGTGCCCAGGGT	0.577																																					Colon(7;19 345 13446 17537)	uc001jte.1		NaN																	0				ovary(2)	2						c.(1525-1527)TGT>TTT		oncoprotein-induced transcript 3 precursor							106.0	109.0	108.0					10																	74692170		2203	4300	6503	SO:0001583	missense	170392					nuclear envelope	calcium ion binding	g.chr10:74692170G>T		CCDS7318.1	10q22.2-q22.3	2004-04-21			ENSG00000138315	ENSG00000138315			29953	protein-coding gene	gene with protein product		609330				12975309, 12939600	Standard	NM_152635		Approved	LZP, FLJ39116	uc001jte.1	Q8WWZ8	OTTHUMG00000018444	ENST00000334011.5:c.1526G>T	10.37:g.74692170G>T	ENSP00000333900:p.Cys509Phe					OIT3_uc009xqs.1_RNA	p.C509F	NM_152635	NP_689848	Q8WWZ8	OIT3_HUMAN			9	1744	+	Prostate(51;0.0198)		509			ZP.		A0AVP3|Q8N1M8	Missense_Mutation	SNP	ENST00000334011.5	37	c.1526G>T	CCDS7318.1	.	.	.	.	.	.	.	.	.	.	G	32	5.141209	0.94560	.	.	ENSG00000138315	ENST00000334011	D	0.89746	-2.56	6.06	6.06	0.98353	Zona pellucida sperm-binding protein (3);	0.000000	0.64402	D	0.000007	D	0.95449	0.8522	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95143	0.8265	10	0.87932	D	0	-15.4634	20.6208	0.99490	0.0:0.0:1.0:0.0	.	509	Q8WWZ8	OIT3_HUMAN	F	509	ENSP00000333900:C509F	ENSP00000333900:C509F	C	+	2	0	OIT3	74362176	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.585000	0.90802	2.882000	0.98803	0.655000	0.94253	TGT		0.577	OIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048596.1		NM_152635		38	93	1	0	3.38236e-24	0.027894	3.73145e-24	38	93		
ZMIZ1	57178	broad.mit.edu	37	10	81050724	81050724	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr10:81050724G>A	ENST00000334512.5	+	10	1121	c.549G>A	c.(547-549)ggG>ggA	p.G183G	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	183					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			AGGTCCTTGGGAACCCTATGG	0.567																																						uc001kaf.2		NaN																	0				ovary(2)|breast(1)|skin(1)	4						c.(547-549)GGG>GGA		retinoic acid induced 17							102.0	86.0	92.0					10																	81050724		2203	4300	6503	SO:0001819	synonymous_variant	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81050724G>A	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.549G>A	10.37:g.81050724G>A						ZMIZ1_uc001kag.2_Silent_p.G59G|ZMIZ1_uc001kah.1_Silent_p.G59G	p.G183G	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		10	1121	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		183					Q5JSH9|Q7Z7E6	Silent	SNP	ENST00000334512.5	37	c.549G>A	CCDS7357.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.378501	0.24944	.	.	ENSG00000108175	ENST00000372347	.	.	.	5.67	3.56	0.40772	.	.	.	.	.	T	0.29588	0.0738	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20107	-1.0285	5	0.08599	T	0.76	-9.8981	2.9554	0.05875	0.23:0.2808:0.4892:0.0	.	.	.	.	K	115	.	ENSP00000361422:E115K	E	+	1	0	ZMIZ1	80720730	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.716000	0.47219	2.681000	0.91329	0.655000	0.94253	GAA		0.567	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2		NM_020338		15	39	0	0	0	0.020292	0	15	39		
RNLS	55328	broad.mit.edu	37	10	90342026	90342026	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr10:90342026G>T	ENST00000331772.4	-	2	179	c.157C>A	c.(157-159)Cag>Aag	p.Q53K	RNLS_ENST00000466945.1_5'UTR|RNLS_ENST00000437752.1_Intron|RNLS_ENST00000371947.3_Missense_Mutation_p.Q53K	NM_001031709.2	NP_001026879.2	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	53					cardiac left ventricle morphogenesis (GO:0003214)|dopamine metabolic process (GO:0042417)|epinephrine metabolic process (GO:0042414)|heart contraction (GO:0060047)|norepinephrine metabolic process (GO:0042415)|phosphate ion homeostasis (GO:0055062)|regulation of systemic arterial blood pressure (GO:0003073)|response to epinephrine (GO:0071871)|response to ischemia (GO:0002931)|response to norepinephrine (GO:0071873)|response to salt (GO:1902074)	extracellular space (GO:0005615)	oxidoreductase activity (GO:0016491)			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						GCTGTGCACTGAGGATTATGA	0.433																																						uc001kfe.2		NaN																	0				ovary(1)	1						c.(157-159)CAG>AAG		renalase isoform 1							213.0	176.0	188.0					10																	90342026		2203	4300	6503	SO:0001583	missense	55328					extracellular region	oxidoreductase activity	g.chr10:90342026G>T	BC005364	CCDS7388.1, CCDS31239.1	10q23.31	2009-04-22	2009-04-22	2009-04-22	ENSG00000184719	ENSG00000184719			25641	protein-coding gene	gene with protein product		609360	"""chromosome 10 open reading frame 59"""	C10orf59		15841207, 17565281	Standard	NM_001031709		Approved	FLJ11218, renalase	uc001kfe.3	Q5VYX0	OTTHUMG00000018692	ENST00000331772.4:c.157C>A	10.37:g.90342026G>T	ENSP00000332530:p.Gln53Lys					RNLS_uc010qms.1_Intron|RNLS_uc001kfd.2_Missense_Mutation_p.Q53K	p.Q53K	NM_001031709	NP_001026879	Q5VYX0	RNLS_HUMAN			2	292	-			53					Q9BS33|Q9NUP8	Missense_Mutation	SNP	ENST00000331772.4	37	c.157C>A	CCDS31239.1	.	.	.	.	.	.	.	.	.	.	G	2.920	-0.223342	0.06061	.	.	ENSG00000184719	ENST00000371947;ENST00000331772	T;D	0.95853	3.12;-3.83	5.63	4.72	0.59763	.	0.666360	0.15697	N	0.249106	D	0.88433	0.6435	N	0.17082	0.46	0.23070	N	0.99835	B;B	0.10296	0.002;0.003	B;B	0.06405	0.002;0.001	T	0.72649	-0.4229	10	0.06757	T	0.87	.	10.6336	0.45551	0.0:0.1438:0.707:0.1492	.	53;53	Q5VYX0;Q5VYX0-2	RNLS_HUMAN;.	K	53	ENSP00000361015:Q53K;ENSP00000332530:Q53K	ENSP00000332530:Q53K	Q	-	1	0	RNLS	90332006	0.026000	0.19158	0.082000	0.20525	0.986000	0.74619	2.132000	0.42083	1.373000	0.46208	0.591000	0.81541	CAG		0.433	RNLS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049250.1		NM_018363		11	18	1	0	2.80697e-09	0.010729	2.94794e-09	11	18		
NPM3	10360	broad.mit.edu	37	10	103542092	103542092	+	Missense_Mutation	SNP	A	A	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr10:103542092A>C	ENST00000370110.5	-	4	363	c.341T>G	c.(340-342)tTc>tGc	p.F114C	NPM3_ENST00000474993.1_5'UTR	NM_006993.2	NP_008924.1	O75607	NPM3_HUMAN	nucleophosmin/nucleoplasmin 3	114					rRNA processing (GO:0006364)|rRNA transcription (GO:0009303)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			large_intestine(3)|lung(1)|skin(1)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		TTGGAGCTGGAAGTCATCCAG	0.597																																						uc001ktt.2		NaN																	0					0						c.(340-342)TTC>TGC		nucleophosmin/nucleoplasmin 3							81.0	82.0	82.0					10																	103542092		2203	4300	6503	SO:0001583	missense	10360						nucleic acid binding	g.chr10:103542092A>C	AY049737	CCDS7519.1	10q24.31	2009-08-27	2009-08-27		ENSG00000107833	ENSG00000107833			7931	protein-coding gene	gene with protein product		606456				11722795	Standard	NM_006993		Approved		uc001ktt.3	O75607	OTTHUMG00000018942	ENST00000370110.5:c.341T>G	10.37:g.103542092A>C	ENSP00000359128:p.Phe114Cys						p.F114C	NM_006993	NP_008924	O75607	NPM3_HUMAN		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)	4	364	-		Colorectal(252;0.122)	114					Q9UNY6	Missense_Mutation	SNP	ENST00000370110.5	37	c.341T>G	CCDS7519.1	.	.	.	.	.	.	.	.	.	.	A	19.81	3.896839	0.72639	.	.	ENSG00000107833	ENST00000370110	T	0.50548	0.74	5.47	5.47	0.80525	Nucleoplasmin core (2);	0.000000	0.85682	D	0.000000	T	0.70868	0.3273	M	0.84511	2.7	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	T	0.76121	-0.3075	10	0.72032	D	0.01	-20.1969	13.2922	0.60276	1.0:0.0:0.0:0.0	.	114	O75607	NPM3_HUMAN	C	114	ENSP00000359128:F114C	ENSP00000359128:F114C	F	-	2	0	NPM3	103532082	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	7.487000	0.81328	2.079000	0.62486	0.459000	0.35465	TTC		0.597	NPM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050003.2		NM_006993		3	10	0	0	0	0.004672	0	3	10		
CFAP43	80217	broad.mit.edu	37	10	105942272	105942272	+	Splice_Site	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr10:105942272C>T	ENST00000278064.2	-	17	2260		c.e17-1		WDR96_ENST00000428666.1_Splice_Site|WDR96_ENST00000357060.3_Splice_Site																NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TCCAAATCGCCTATATTAATA	0.323																																						uc001kxw.2		NaN																	0					0						c.e17-1		hypothetical protein LOC80217							63.0	61.0	62.0					10																	105942272		2203	4300	6503	SO:0001630	splice_region_variant	80217							g.chr10:105942272C>T																												ENST00000278064.2:c.1935-1G>A	10.37:g.105942272C>T						C10orf79_uc009xxq.2_Splice_Site_p.K22_splice|C10orf79_uc001kxx.3_Splice_Site_p.K715_splice	p.K714_splice	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)	17	2258	-		Colorectal(252;0.178)							Splice_Site	SNP	ENST00000278064.2	37	c.2142_splice		.	.	.	.	.	.	.	.	.	.	C	17.47	3.398396	0.62177	.	.	ENSG00000197748	ENST00000357060;ENST00000428666;ENST00000434629;ENST00000278064	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1703	0.65506	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	WDR96	105932262	0.893000	0.30496	0.590000	0.28732	0.483000	0.33249	3.439000	0.52878	2.490000	0.84030	0.557000	0.71058	.		0.323	WDR96-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050200.1			Intron	10	37	0	0	0	0.008291	0	10	37		
RAB11FIP2	22841	broad.mit.edu	37	10	119799755	119799755	+	Silent	SNP	C	C	A	rs138355819		TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr10:119799755C>A	ENST00000355624.3	-	2	1114	c.675G>T	c.(673-675)gcG>gcT	p.A225A	RP11-354M20.3_ENST00000451610.2_RNA|RAB11FIP2_ENST00000369199.3_Silent_p.A225A|RP11-354M20.3_ENST00000417968.4_RNA	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	225					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)		ACATTGAATGCGCTGACGAGA	0.443																																						uc001ldj.1		NaN																	0					0						c.(673-675)GCG>GCT		RAB11 family interacting protein 2							164.0	166.0	165.0					10																	119799755		2203	4299	6502	SO:0001819	synonymous_variant	22841				protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity	g.chr10:119799755C>A	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.675G>T	10.37:g.119799755C>A						RAB11FIP2_uc009xyz.1_Silent_p.A225A	p.A225A	NM_014904	NP_055719	Q7L804	RFIP2_HUMAN		all cancers(201;0.0238)	2	1115	-		Colorectal(252;0.235)	225					A6NEI4|Q3I768|Q9Y2F0	Silent	SNP	ENST00000355624.3	37	c.675G>T	CCDS7602.1																																																																																				0.443	RAB11FIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050583.1		NM_014904		36	134	1	0	4.34086e-07	0.023175	4.50962e-07	36	134		
DMBT1	1755	broad.mit.edu	37	10	124339407	124339407	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr10:124339407C>T	ENST00000338354.3	+	10	1099	c.993C>T	c.(991-993)gtC>gtT	p.V331V	DMBT1_ENST00000368955.3_Silent_p.V331V|DMBT1_ENST00000368909.3_Silent_p.V331V|DMBT1_ENST00000368956.2_Silent_p.V331V|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Silent_p.V331V|DMBT1_ENST00000344338.3_Silent_p.V331V			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	331	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ACGCTGGTGTCATCTGCTCAG	0.527																																					Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1		NaN																	0				central_nervous_system(7)	7						c.(991-993)GTC>GTT		deleted in malignant brain tumors 1 isoform b							76.0	76.0	76.0					10																	124339407		1904	4143	6047	SO:0001819	synonymous_variant	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124339407C>T		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.993C>T	10.37:g.124339407C>T						DMBT1_uc001lgl.1_Silent_p.V331V|DMBT1_uc001lgm.1_Silent_p.V331V|DMBT1_uc009xzz.1_Silent_p.V331V|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Silent_p.V183V	p.V331V	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			10	1099	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	331			SRCR 2.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Silent	SNP	ENST00000338354.3	37	c.993C>T																																																																																					0.527	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2		NM_004406		14	60	0	0	0	0.020292	0	14	60		
EDRF1	26098	broad.mit.edu	37	10	127414265	127414265	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr10:127414265G>T	ENST00000356792.4	+	6	882	c.650G>T	c.(649-651)gGa>gTa	p.G217V	C10orf137_ENST00000337623.3_Missense_Mutation_p.G217V	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		217					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AATGGTGATGGAGCCGCTCAG	0.453																																						uc001liq.1		NaN																	0				ovary(5)|large_intestine(3)|lung(2)	10						c.(649-651)GGA>GTA		erythroid differentiation-related factor 1							66.0	61.0	63.0					10																	127414265		2203	4300	6503	SO:0001583	missense	26098				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	g.chr10:127414265G>T																												ENST00000356792.4:c.650G>T	10.37:g.127414265G>T	ENSP00000349244:p.Gly217Val					C10orf137_uc001lin.2_Missense_Mutation_p.G217V|C10orf137_uc001lio.1_Missense_Mutation_p.G217V|C10orf137_uc001lip.1_5'UTR	p.G217V	NM_015608	NP_056423	Q3B7T1	EDRF1_HUMAN			6	943	+		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	217					B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Missense_Mutation	SNP	ENST00000356792.4	37	c.650G>T	CCDS55733.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.451969	0.63290	.	.	ENSG00000107938	ENST00000356792;ENST00000392732;ENST00000337623	.	.	.	4.85	3.92	0.45320	.	0.108806	0.64402	D	0.000006	T	0.55737	0.1939	L	0.39245	1.2	0.80722	D	1	D;P;D	0.61080	0.989;0.587;0.989	P;B;P	0.61201	0.885;0.369;0.885	T	0.57159	-0.7859	9	0.62326	D	0.03	.	6.5228	0.22285	0.1535:0.1552:0.6914:0.0	.	217;217;217	Q3B7T1;Q3B7T1-5;Q3B7T1-3	EDRF1_HUMAN;.;.	V	217	.	ENSP00000336727:G217V	G	+	2	0	C10orf137	127404255	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.383000	0.52471	1.367000	0.46095	0.650000	0.86243	GGA		0.453	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1				12	38	1	0	9.31168e-06	0.016723	9.61141e-06	12	38		
ANO9	338440	broad.mit.edu	37	11	433382	433382	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:433382G>A	ENST00000332826.6	-	4	366	c.282C>T	c.(280-282)ctC>ctT	p.L94L		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	94					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CAGGCTCCAGGAGGAAAGTGC	0.647																																						uc001lpi.2		NaN																	0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(280-282)CTC>CTT		tumor protein p53 inducible protein 5							103.0	107.0	106.0					11																	433382		2203	4299	6502	SO:0001819	synonymous_variant	338440					chloride channel complex	chloride channel activity	g.chr11:433382G>A	U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	20679	protein-coding gene	gene with protein product			"""tumor protein p53 inducible protein 5"", ""transmembrane protein 16J"""	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.282C>T	11.37:g.433382G>A						ANO9_uc010qvv.1_5'UTR	p.L94L	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN			4	367	-			94			Cytoplasmic (Potential).		B3KUC4|B4E134|Q8TEN4	Silent	SNP	ENST00000332826.6	37	c.282C>T	CCDS31326.1																																																																																				0.647	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384116.1		NM_001012302		19	75	0	0	0	0.007413	0	19	75		
CTSD	1509	broad.mit.edu	37	11	1782618	1782618	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:1782618C>T	ENST00000236671.2	-	2	281	c.149G>A	c.(148-150)gGc>gAc	p.G50D	AC068580.6_ENST00000449248.1_RNA|AC068580.1_ENST00000580120.1_RNA|RP11-295K3.1_ENST00000427721.1_5'Flank|AC068580.5_ENST00000446489.1_RNA	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	50					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic vacuole assembly (GO:0000045)|cell death (GO:0008219)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|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;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TGAGACGGGGCCTTTGGCAAT	0.622																																						uc001luc.1		NaN																	0					0						c.(148-150)GGC>GAC		cathepsin D preproprotein	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						68.0	67.0	67.0					11																	1782618		2202	4299	6501	SO:0001583	missense	1509				cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity	g.chr11:1782618C>T	M11233	CCDS7725.1	11p15.5	2009-06-26	2006-12-05		ENSG00000117984	ENSG00000117984	3.4.23.5	"""Cathepsins"""	2529	protein-coding gene	gene with protein product	"""ceroid-lipofuscinosis, neuronal 10"""	116840	"""cathepsin D (lysosomal aspartyl protease)"""	CPSD		3927292	Standard	NM_001909		Approved	CLN10	uc001luc.2	P07339	OTTHUMG00000044760	ENST00000236671.2:c.149G>A	11.37:g.1782618C>T	ENSP00000236671:p.Gly50Asp					CTSD_uc009yda.1_RNA	p.G50D	NM_001909	NP_001900	P07339	CATD_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	2	282	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	50					Q6IB57	Missense_Mutation	SNP	ENST00000236671.2	37	c.149G>A	CCDS7725.1	.	.	.	.	.	.	.	.	.	.	c	9.366	1.069141	0.20147	.	.	ENSG00000117984	ENST00000236671;ENST00000438213;ENST00000367196	T;T;T	0.63255	0.64;0.87;-0.03	3.71	1.78	0.24846	Peptidase aspartic (1);	0.659654	0.14100	N	0.341428	T	0.37348	0.1000	N	0.16478	0.41	0.09310	N	1	B	0.11235	0.004	B	0.12837	0.008	T	0.18808	-1.0325	10	0.11794	T	0.64	.	4.5017	0.11867	0.0:0.4306:0.362:0.2074	.	50	P07339	CATD_HUMAN	D	50;35;15	ENSP00000236671:G50D;ENSP00000415036:G35D;ENSP00000356164:G15D	ENSP00000236671:G50D	G	-	2	0	CTSD	1739194	0.000000	0.05858	0.023000	0.16930	0.024000	0.10985	0.133000	0.15912	0.364000	0.24374	0.561000	0.74099	GGC		0.622	CTSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104272.5		NM_001909		15	43	0	0	0	0.024245	0	15	43		
OSBPL5	114879	broad.mit.edu	37	11	3111839	3111839	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:3111839C>G	ENST00000263650.7	-	20	2506	c.2347G>C	c.(2347-2349)Gag>Cag	p.E783Q	OSBPL5_ENST00000542243.1_Missense_Mutation_p.E414Q|OSBPL5_ENST00000389989.3_Missense_Mutation_p.E715Q|OSBPL5_ENST00000525498.1_Missense_Mutation_p.E694Q|OSBPL5_ENST00000478260.1_Missense_Mutation_p.E237Q|OSBPL5_ENST00000348039.5_Missense_Mutation_p.E715Q	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	783					cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|Golgi to plasma membrane transport (GO:0006893)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|oxysterol binding (GO:0008142)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GGGCAGGACTCAGGCGTGGAT	0.667																																						uc001lxk.2		NaN																	0				large_intestine(2)|central_nervous_system(1)	3						c.(2347-2349)GAG>CAG		oxysterol-binding protein-like protein 5 isoform							61.0	60.0	61.0					11																	3111839		2201	4298	6499	SO:0001583	missense	114879				cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding	g.chr11:3111839C>G	AF392453	CCDS31343.1, CCDS31344.1	11p15.4	2013-01-10			ENSG00000021762	ENSG00000021762		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16392	protein-coding gene	gene with protein product		606733					Standard	NM_145638		Approved	KIAA1534, ORP5	uc001lxk.2	Q9H0X9	OTTHUMG00000011702	ENST00000263650.7:c.2347G>C	11.37:g.3111839C>G	ENSP00000263650:p.Glu783Gln					OSBPL5_uc010qxq.1_Missense_Mutation_p.E694Q|OSBPL5_uc009ydw.2_Missense_Mutation_p.E715Q|OSBPL5_uc001lxl.2_Missense_Mutation_p.E715Q|OSBPL5_uc001lxj.2_Missense_Mutation_p.E237Q	p.E783Q	NM_020896	NP_065947	Q9H0X9	OSBL5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)	20	2505	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	783					A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Missense_Mutation	SNP	ENST00000263650.7	37	c.2347G>C	CCDS31344.1	.	.	.	.	.	.	.	.	.	.	C	10.79	1.449390	0.26074	.	.	ENSG00000021762	ENST00000478260;ENST00000263650;ENST00000389989;ENST00000534454;ENST00000525498;ENST00000542243;ENST00000348039;ENST00000357352	T;T;T;T;T;T;T	0.49432	0.78;1.4;1.42;0.82;1.42;0.8;1.42	3.81	3.81	0.43845	.	5.211120	0.00988	N	0.003496	T	0.62539	0.2436	L	0.61218	1.895	0.49051	D	0.999749	P;B;P	0.49862	0.865;0.135;0.929	P;B;P	0.54590	0.653;0.156;0.756	T	0.55023	-0.8205	10	0.14252	T	0.57	-16.6694	13.5001	0.61449	0.0:1.0:0.0:0.0	.	694;715;783	B4DVB0;Q8N596;Q9H0X9	.;.;OSBL5_HUMAN	Q	237;783;715;336;694;414;715;402	ENSP00000437141:E237Q;ENSP00000263650:E783Q;ENSP00000374639:E715Q;ENSP00000431412:E336Q;ENSP00000433342:E694Q;ENSP00000441551:E414Q;ENSP00000302872:E715Q	ENSP00000263650:E783Q	E	-	1	0	OSBPL5	3068415	1.000000	0.71417	0.987000	0.45799	0.359000	0.29487	5.497000	0.66924	1.657000	0.50732	0.549000	0.68633	GAG		0.667	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032332.2				4	34	0	0	0	0.009096	0	4	34		
RRM1	6240	broad.mit.edu	37	11	4127384	4127384	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:4127384G>C	ENST00000300738.5	+	3	421	c.217G>C	c.(217-219)Gac>Cac	p.D73H	RRM1_ENST00000423050.2_Intron	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	73	ATP-cone. {ECO:0000255|PROSITE- ProRule:PRU00492}.				cell proliferation in forebrain (GO:0021846)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|male gonad development (GO:0008584)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|pyrimidine nucleobase metabolic process (GO:0006206)|response to ionizing radiation (GO:0010212)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	TAAGCACCCTGACTATGCTAT	0.448																																					NSCLC(45;1345 1376 6258 22925)|Ovarian(34;894 1053 6175 12768)	uc001lyw.3		NaN																	0				skin(1)	1						c.(217-219)GAC>CAC		ribonucleoside-diphosphate reductase M1 chain	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)						86.0	72.0	77.0					11																	4127384		2201	4298	6499	SO:0001583	missense	6240				deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity	g.chr11:4127384G>C	X59543	CCDS7750.1	11p15.5	2009-07-10	2008-03-11		ENSG00000167325	ENSG00000167325	1.17.14.1		10451	protein-coding gene	gene with protein product		180410	"""ribonucleotide reductase M1 polypeptide"""			7557993	Standard	NM_001033		Approved		uc001lyw.4	P23921	OTTHUMG00000133361	ENST00000300738.5:c.217G>C	11.37:g.4127384G>C	ENSP00000300738:p.Asp73His					RRM1_uc009yeh.1_Intron|RRM1_uc009yei.2_Missense_Mutation_p.D33H|RRM1_uc010qyc.1_Intron	p.D73H	NM_001033	NP_001024	P23921	RIR1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	3	536	+		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)	73			ATP-cone.		Q9UNN2	Missense_Mutation	SNP	ENST00000300738.5	37	c.217G>C	CCDS7750.1	.	.	.	.	.	.	.	.	.	.	G	34	5.332647	0.95733	.	.	ENSG00000167325	ENST00000300738	T	0.36520	1.25	5.77	5.77	0.91146	Ribonucleotide reductase R1 subunit, N-terminal (1);ATP-cone (2);	0.000000	0.85682	D	0.000000	T	0.69780	0.3149	H	0.96489	3.83	0.80722	D	1	D	0.67145	0.996	P	0.58210	0.835	T	0.79640	-0.1719	10	0.72032	D	0.01	-20.4357	18.9257	0.92544	0.0:0.0:1.0:0.0	.	73	P23921	RIR1_HUMAN	H	73	ENSP00000300738:D73H	ENSP00000300738:D73H	D	+	1	0	RRM1	4083960	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.342000	0.97044	2.885000	0.99019	0.655000	0.94253	GAC		0.448	RRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257197.1		NM_001033		18	41	0	0	0	0.008871	0	18	41		
DNHD1	144132	broad.mit.edu	37	11	6588563	6588563	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:6588563C>G	ENST00000527990.2	+	34	11824	c.11824C>G	c.(11824-11826)Ctg>Gtg	p.L3942V	DNHD1_ENST00000254579.6_Missense_Mutation_p.L3942V			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3942					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CGCTTTGGCTCTGCTGCAAGC	0.597																																						uc001mdw.3		NaN																	0				ovary(2)	2						c.(11824-11826)CTG>GTG		dynein heavy chain domain 1 isoform 1							51.0	59.0	56.0					11																	6588563		2089	4210	6299	SO:0001583	missense	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6588563C>G	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.11824C>G	11.37:g.6588563C>G	ENSP00000436180:p.Leu3942Val					DNHD1_uc001mea.3_Missense_Mutation_p.L211V|DNHD1_uc001meb.2_Missense_Mutation_p.L210V|DNHD1_uc001mec.2_Missense_Mutation_p.L210V|DNHD1_uc010rao.1_Missense_Mutation_p.L200V|DNHD1_uc009yfg.2_5'Flank	p.L3942V	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	36	12388	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	3942					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	c.11824C>G	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	C	8.769	0.925455	0.18056	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000525883;ENST00000530197	T;T	0.29655	1.56;1.56	4.54	2.57	0.30868	.	0.299519	0.22690	N	0.056839	T	0.19485	0.0468	L	0.29908	0.895	0.21355	N	0.999719	B;B;B	0.30068	0.079;0.267;0.079	B;B;B	0.27380	0.021;0.079;0.021	T	0.13202	-1.0518	10	0.34782	T	0.22	-1.6479	8.3195	0.32121	0.3198:0.5342:0.146:0.0	.	3030;210;3942	B0I1S4;D3DQT9;Q96M86	.;.;DNHD1_HUMAN	V	3942;3942;210;210	ENSP00000254579:L3942V;ENSP00000436180:L3942V	ENSP00000254579:L3942V	L	+	1	2	DNHD1	6545139	0.966000	0.33281	0.993000	0.49108	0.918000	0.54935	0.088000	0.14979	0.475000	0.27415	-0.305000	0.09177	CTG		0.597	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2		NM_144666		17	47	0	0	0	0.00499	0	17	47		
ABCC8	6833	broad.mit.edu	37	11	17464306	17464306	+	Missense_Mutation	SNP	T	T	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:17464306T>A	ENST00000389817.3	-	10	1659	c.1591A>T	c.(1591-1593)Acc>Tcc	p.T531S	ABCC8_ENST00000528202.1_5'UTR|ABCC8_ENST00000302539.4_Missense_Mutation_p.T531S			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	531	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	CTGAGGCTGGTCATCTCCTTC	0.607																																						uc001mnc.2		NaN																	0				ovary(1)	1						c.(1591-1593)ACC>TCC		ATP-binding cassette, sub-family C, member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						101.0	88.0	92.0					11																	17464306		2200	4293	6493	SO:0001583	missense	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17464306T>A	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.1591A>T	11.37:g.17464306T>A	ENSP00000374467:p.Thr531Ser					ABCC8_uc010rcy.1_Missense_Mutation_p.T530S	p.T531S	NM_000352	NP_000343	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	10	1717	-			531			Cytoplasmic (By similarity).|ABC transmembrane type-1 1.		A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	c.1591A>T	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	T	15.87	2.961673	0.53400	.	.	ENSG00000006071	ENST00000389817;ENST00000302539;ENST00000379493	D;D	0.94138	-3.36;-3.36	6.02	6.02	0.97574	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.87055	0.6082	N	0.20328	0.56	0.49051	D	0.999744	B;B	0.16166	0.016;0.009	B;B	0.22152	0.021;0.038	T	0.82289	-0.0531	10	0.06494	T	0.89	.	16.5446	0.84426	0.0:0.0:0.0:1.0	.	530;531	B7Z4N0;Q09428	.;ABCC8_HUMAN	S	531;531;545	ENSP00000374467:T531S;ENSP00000303960:T531S	ENSP00000303960:T531S	T	-	1	0	ABCC8	17420882	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.175000	0.71949	2.311000	0.77944	0.533000	0.62120	ACC		0.607	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1		NM_000352		13	65	0	0	0	0.013537	0	13	65		
KIF18A	81930	broad.mit.edu	37	11	28057955	28057955	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:28057955G>A	ENST00000263181.6	-	14	2495	c.2205C>T	c.(2203-2205)atC>atT	p.I735I		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	735			I -> V (in dbSNP:rs10458896). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:15878648}.		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						TGTTTGAGCTGATAGCCTGAA	0.353																																						uc001msc.2		NaN																	0				ovary(2)	2						c.(2203-2205)ATC>ATT		kinesin family member 18A							139.0	138.0	138.0					11																	28057955		2202	4298	6500	SO:0001819	synonymous_variant	81930				blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding	g.chr11:28057955G>A	AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"""Kinesins"""	29441	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 99"""	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.2205C>T	11.37:g.28057955G>A							p.I735I	NM_031217	NP_112494	Q8NI77	KI18A_HUMAN			14	2387	-			735					Q4VPE3|Q86VS5|Q9H0F3	Silent	SNP	ENST00000263181.6	37	c.2205C>T	CCDS7867.1																																																																																				0.353	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388328.3		NM_031217		56	153	0	0	0	0.01441	0	56	153		
EXT2	2132	broad.mit.edu	37	11	44129413	44129413	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:44129413G>T	ENST00000343631.3	+	2	280	c.151G>T	c.(151-153)Gag>Tag	p.E51*	EXT2_ENST00000395673.3_Nonsense_Mutation_p.E84*|EXT2_ENST00000358681.4_Nonsense_Mutation_p.E51*|EXT2_ENST00000533608.1_Nonsense_Mutation_p.E51*			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	51					carbohydrate metabolic process (GO:0005975)|cell differentiation (GO:0030154)|cellular polysaccharide biosynthetic process (GO:0033692)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm formation (GO:0001707)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						CCATTCTATCGAGTCCTCAAA	0.532			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses																													uc001mxz.2		NaN	yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	2132	Mis|N|F|S	multiple exostoses type 2 gene			M		exostoses|osteosarcoma			0				lung(2)|breast(2)|skin(1)	5	GRCh37	CM000142	EXT2	M		c.(151-153)GAG>TAG		exostosin 2 isoform 2							147.0	149.0	148.0					11																	44129413		2203	4300	6503	SO:0001587	stop_gained	2132	Hereditary_Multiple_Exostoses	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity	g.chr11:44129413G>T		CCDS7908.1, CCDS53618.1, CCDS53619.1	11p12-p11	2014-09-17	2013-03-01		ENSG00000151348	ENSG00000151348	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3513	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608210	"""exostoses (multiple) 2"", ""exostosin 2"""			8162019, 9576285	Standard	NM_000401		Approved	SOTV	uc001mya.3	Q93063	OTTHUMG00000166498	ENST00000343631.3:c.151G>T	11.37:g.44129413G>T	ENSP00000342656:p.Glu51*					EXT2_uc010rfo.1_Nonsense_Mutation_p.E79*|EXT2_uc001mxy.2_Nonsense_Mutation_p.E64*|EXT2_uc009ykt.2_Nonsense_Mutation_p.E51*|EXT2_uc001mya.2_Nonsense_Mutation_p.E84*	p.E51*	NM_207122	NP_997005	Q93063	EXT2_HUMAN			2	485	+			51			Lumenal (Potential).		B2R5Z6|C9JU51|J3KPT2|O15288	Nonsense_Mutation	SNP	ENST00000343631.3	37	c.151G>T	CCDS7908.1	.	.	.	.	.	.	.	.	.	.	G	36	5.622007	0.96660	.	.	ENSG00000151348	ENST00000533608;ENST00000527014;ENST00000358681;ENST00000395673;ENST00000343631	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-0.3125	19.302	0.94148	0.0:0.0:1.0:0.0	.	.	.	.	X	51;51;51;84;51	.	ENSP00000342656:E51X	E	+	1	0	EXT2	44085989	1.000000	0.71417	0.997000	0.53966	0.817000	0.46193	9.338000	0.96553	2.568000	0.86640	0.650000	0.86243	GAG		0.532	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390074.1		NM_000401		12	207	1	0	3.07112e-06	0.010729	3.17679e-06	12	207		
MAPK8IP1	9479	broad.mit.edu	37	11	45924345	45924345	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:45924345G>C	ENST00000241014.2	+	5	1197	c.1027G>C	c.(1027-1029)Gag>Cag	p.E343Q	MAPK8IP1_ENST00000395629.2_Missense_Mutation_p.E333Q	NM_005456.3	NP_005447.1	Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	343	Interaction with MAP3K7.				JUN phosphorylation (GO:0007258)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|positive regulation of signal transduction (GO:0009967)|regulation of JNK cascade (GO:0046328)|regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic growth cone (GO:0044294)|dentate gyrus mossy fiber (GO:0044302)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase inhibitor activity (GO:0004860)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		GTCGTCCCCAGAGCGGGCTGA	0.721																																						uc001nbr.2		NaN																	0				ovary(2)|breast(1)|skin(1)	4						c.(1027-1029)GAG>CAG		mitogen-activated protein kinase 8 interacting							9.0	11.0	10.0					11																	45924345		2193	4284	6477	SO:0001583	missense	9479				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity	g.chr11:45924345G>C		CCDS7916.1	11p11.2	2009-07-24			ENSG00000121653	ENSG00000121653			6882	protein-coding gene	gene with protein product		604641		PRKM8IP		9235893, 9442013	Standard	NM_005456		Approved	IB1, JIP-1, JIP1	uc001nbr.3	Q9UQF2	OTTHUMG00000134324	ENST00000241014.2:c.1027G>C	11.37:g.45924345G>C	ENSP00000241014:p.Glu343Gln						p.E343Q	NM_005456	NP_005447	Q9UQF2	JIP1_HUMAN		GBM - Glioblastoma multiforme(35;0.231)	5	1197	+			343					D3DQP4|O43407	Missense_Mutation	SNP	ENST00000241014.2	37	c.1027G>C	CCDS7916.1	.	.	.	.	.	.	.	.	.	.	G	19.82	3.899127	0.72754	.	.	ENSG00000121653	ENST00000241014;ENST00000395629	T;T	0.23754	1.89;1.89	4.88	4.88	0.63580	.	0.222920	0.39407	N	0.001368	T	0.16171	0.0389	N	0.14661	0.345	0.40557	D	0.981179	P	0.39391	0.671	B	0.32289	0.143	T	0.08411	-1.0723	10	0.46703	T	0.11	-18.6145	18.2065	0.89857	0.0:0.0:1.0:0.0	.	343	Q9UQF2	JIP1_HUMAN	Q	343;333	ENSP00000241014:E343Q;ENSP00000378991:E333Q	ENSP00000241014:E343Q	E	+	1	0	MAPK8IP1	45880921	1.000000	0.71417	0.995000	0.50966	0.975000	0.68041	4.459000	0.60102	2.541000	0.85698	0.561000	0.74099	GAG		0.721	MAPK8IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259405.1		NM_005456		4	12	0	0	0	0.009096	0	4	12		
ACP2	53	broad.mit.edu	37	11	47267305	47267305	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:47267305C>T	ENST00000256997.3	-	4	494	c.378G>A	c.(376-378)ggG>ggA	p.G126G	ACP2_ENST00000525230.1_5'Flank|ACP2_ENST00000537863.1_5'UTR|ACP2_ENST00000529444.1_Silent_p.G126G|ACP2_ENST00000533929.1_Silent_p.G98G|ACP2_ENST00000527256.1_Silent_p.G94G|ACP2_ENST00000444355.2_Silent_p.G126G|ACP2_ENST00000530453.1_Silent_p.G126G	NM_001610.2	NP_001601.1	P11117	PPAL_HUMAN	acid phosphatase 2, lysosomal	126					dephosphorylation (GO:0016311)|lysosome organization (GO:0007040)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)	acid phosphatase activity (GO:0003993)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10						AGCGCTGCATCCCGTTGGGAG	0.572																																					Melanoma(90;262 1440 11488 44828 48531)	uc001nei.2		NaN																	0				ovary(1)	1						c.(376-378)GGG>GGA		acid phosphatase 2, lysosomal isoform 1							103.0	92.0	96.0					11																	47267305		2201	4298	6499	SO:0001819	synonymous_variant	53					integral to membrane|lysosomal lumen|lysosomal membrane	acid phosphatase activity	g.chr11:47267305C>T	X15525	CCDS7928.1, CCDS44583.1	11p11.2	2008-02-05			ENSG00000134575	ENSG00000134575	3.1.3.2		123	protein-coding gene	gene with protein product		171650				975882	Standard	NM_001610		Approved		uc001nei.3	P11117	OTTHUMG00000166949	ENST00000256997.3:c.378G>A	11.37:g.47267305C>T						ACP2_uc010rhe.1_Silent_p.G98G|ACP2_uc009ylj.2_Silent_p.G54G|ACP2_uc010rhf.1_Silent_p.G94G|ACP2_uc010rhg.1_Silent_p.G126G|ACP2_uc010rhh.1_5'UTR|ACP2_uc010rhi.1_5'UTR|ACP2_uc009ylk.2_Silent_p.G126G|ACP2_uc010rhj.1_Silent_p.G126G|NR1H3_uc009yll.1_5'Flank|NR1H3_uc010rhk.1_5'Flank	p.G126G	NM_001610	NP_001601	P11117	PPAL_HUMAN			4	495	-			126			Lumenal (Potential).		E9PCI1|Q561W5|Q9BTU7	Silent	SNP	ENST00000256997.3	37	c.378G>A	CCDS7928.1																																																																																				0.572	ACP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392022.2		NM_001610		16	127	0	0	0	0.007413	0	16	127		
OR4A5	81318	broad.mit.edu	37	11	51411989	51411989	+	Missense_Mutation	SNP	C	C	T	rs183275782	byFrequency	TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:51411989C>T	ENST00000319760.6	-	1	459	c.407G>A	c.(406-408)cGa>cAa	p.R136Q		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	136						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R136L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				GCAAACCTGTCGATTCATGAT	0.478													.|||	3	0.000599042	0.0	0.0	5008	,	,		21413	0.003		0.0	False		,,,				2504	0.0					uc001nhi.1		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(406-408)CGA>CAA		olfactory receptor, family 4, subfamily A,							78.0	74.0	75.0					11																	51411989		2201	4294	6495	SO:0001583	missense	81318				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51411989C>T	AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"""GPCR / Class A : Olfactory receptors"""	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.407G>A	11.37:g.51411989C>T	ENSP00000367664:p.Arg136Gln						p.R136Q	NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN			1	407	-		all_lung(304;0.236)	136			Cytoplasmic (Potential).		Q6IF84	Missense_Mutation	SNP	ENST00000319760.6	37	c.407G>A	CCDS31497.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	.	0.090	-1.169170	0.01660	.	.	ENSG00000221840	ENST00000319760	T	0.01347	4.99	1.93	-3.0	0.05480	GPCR, rhodopsin-like superfamily (1);	0.930208	0.08798	N	0.892243	T	0.01061	0.0035	N	0.17922	0.545	0.09310	N	1	B	0.21381	0.055	B	0.14023	0.01	T	0.47407	-0.9120	10	0.22706	T	0.39	.	7.7014	0.28625	0.0:0.3386:0.0:0.6614	.	136	Q8NH83	OR4A5_HUMAN	Q	136	ENSP00000367664:R136Q	ENSP00000367664:R136Q	R	-	2	0	OR4A5	51268565	.	.	0.009000	0.14445	0.336000	0.28762	.	.	-0.877000	0.04012	0.162000	0.16502	CGA		0.478	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1		NM_001005272		13	89	0	0	0	0.016723	0	13	89		
OR8H3	390152	broad.mit.edu	37	11	55889867	55889867	+	Missense_Mutation	SNP	G	G	A	rs148197076		TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:55889867G>A	ENST00000313472.3	+	1	19	c.19G>A	c.(19-21)Gac>Aac	p.D7N		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	7						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TAGAAGGAATGACACAAATGT	0.458																																						uc001nii.1		NaN																	0				ovary(2)	2						c.(19-21)GAC>AAC		olfactory receptor, family 8, subfamily H,							165.0	157.0	160.0					11																	55889867		2201	4296	6497	SO:0001583	missense	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55889867G>A	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"""GPCR / Class A : Olfactory receptors"""	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.19G>A	11.37:g.55889867G>A	ENSP00000323928:p.Asp7Asn						p.D7N	NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN			1	19	+	Esophageal squamous(21;0.00693)		7			Extracellular (Potential).		Q6IFB7	Missense_Mutation	SNP	ENST00000313472.3	37	c.19G>A	CCDS31519.1	.	.	.	.	.	.	.	.	.	.	G	8.059	0.767741	0.15983	.	.	ENSG00000181761	ENST00000313472	T	0.00505	6.93	3.43	-6.87	0.01671	.	1.169330	0.06223	N	0.687064	T	0.00210	0.0006	N	0.05441	-0.05	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40553	-0.9557	10	0.21014	T	0.42	.	1.2084	0.01899	0.4089:0.2615:0.0968:0.2328	.	7	Q8N146	OR8H3_HUMAN	N	7	ENSP00000323928:D7N	ENSP00000323928:D7N	D	+	1	0	OR8H3	55646443	0.000000	0.05858	0.002000	0.10522	0.039000	0.13416	-0.448000	0.06820	-0.525000	0.06391	-1.252000	0.01501	GAC		0.458	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1		NM_001005201		45	187	0	0	0	0.01441	0	45	187		
OR4D9	390199	broad.mit.edu	37	11	59283252	59283252	+	Silent	SNP	G	G	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:59283252G>T	ENST00000329328.3	+	1	867	c.867G>T	c.(865-867)ctG>ctT	p.L289L		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	289						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						TTTACACGCTGAGGAATCAGG	0.453																																						uc010rkv.1		NaN																	0					0						c.(865-867)CTG>CTT		olfactory receptor, family 4, subfamily D,							95.0	96.0	96.0					11																	59283252		2201	4295	6496	SO:0001819	synonymous_variant	390199				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59283252G>T	AB065861	CCDS31564.1	11q12.1	2012-08-09	2003-12-15		ENSG00000172742	ENSG00000172742		"""GPCR / Class A : Olfactory receptors"""	15178	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily D, member 9 pseudogene"""				Standard	NM_001004711		Approved		uc010rkv.2	Q8NGE8	OTTHUMG00000167343	ENST00000329328.3:c.867G>T	11.37:g.59283252G>T							p.L289L	NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN			1	867	+			289			Helical; Name=7; (Potential).		Q6IFF3	Silent	SNP	ENST00000329328.3	37	c.867G>T	CCDS31564.1																																																																																				0.453	OR4D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394237.1		NM_001004711		27	188	1	0	6.32553e-13	0.024334	6.7463e-13	27	188		
OR4D9	390199	broad.mit.edu	37	11	59283288	59283288	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:59283288G>A	ENST00000329328.3	+	1	903	c.903G>A	c.(901-903)ctG>ctA	p.L301L		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	301						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						TGAGGAAACTGAAGAGACGGC	0.388																																						uc010rkv.1		NaN																	0					0						c.(901-903)CTG>CTA		olfactory receptor, family 4, subfamily D,							64.0	66.0	65.0					11																	59283288		2201	4295	6496	SO:0001819	synonymous_variant	390199				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59283288G>A	AB065861	CCDS31564.1	11q12.1	2012-08-09	2003-12-15		ENSG00000172742	ENSG00000172742		"""GPCR / Class A : Olfactory receptors"""	15178	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily D, member 9 pseudogene"""				Standard	NM_001004711		Approved		uc010rkv.2	Q8NGE8	OTTHUMG00000167343	ENST00000329328.3:c.903G>A	11.37:g.59283288G>A							p.L301L	NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN			1	903	+			301			Cytoplasmic (Potential).		Q6IFF3	Silent	SNP	ENST00000329328.3	37	c.903G>A	CCDS31564.1																																																																																				0.388	OR4D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394237.1		NM_001004711		21	132	0	0	0	0.010504	0	21	132		
VPS37C	55048	broad.mit.edu	37	11	60901556	60901556	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:60901556C>G	ENST00000301765.5	-	3	449	c.217G>C	c.(217-219)Gag>Cag	p.E73Q		NM_017966.4	NP_060436.4	A5D8V6	VP37C_HUMAN	vacuolar protein sorting 37 homolog C (S. cerevisiae)	73					endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)		p.E73K(1)		breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						TTCCGGAGCTCCTGGTATCTA	0.622																																						uc001nqv.1		NaN																	1	Substitution - Missense(1)		breast(1)		0						c.(217-219)GAG>CAG		vacuolar protein sorting 37C							70.0	72.0	71.0					11																	60901556		2203	4299	6502	SO:0001583	missense	55048				cellular membrane organization|endosome transport|protein transport	late endosome membrane		g.chr11:60901556C>G	AK097326	CCDS31573.1	11q12.2	2008-02-05	2006-04-04			ENSG00000167987			26097	protein-coding gene	gene with protein product		610038	"""vacuolar protein sorting 37C (yeast)"""			15509564	Standard	XM_005274077		Approved	FLJ20847	uc001nqv.1	A5D8V6		ENST00000301765.5:c.217G>C	11.37:g.60901556C>G	ENSP00000301765:p.Glu73Gln					VPS37C_uc001nqw.1_Missense_Mutation_p.E73Q	p.E73Q	NM_017966	NP_060436	A5D8V6	VP37C_HUMAN			3	277	-			73					Q8N3K4	Missense_Mutation	SNP	ENST00000301765.5	37	c.217G>C	CCDS31573.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.924692	0.73213	.	.	ENSG00000167987	ENST00000301765;ENST00000540084;ENST00000538036	T;T	0.79141	-1.24;-1.24	5.3	5.3	0.74995	Modifier of rudimentary, Modr (1);	0.120952	0.56097	D	0.000035	D	0.84732	0.5537	L	0.50993	1.605	0.46701	D	0.999164	D;D	0.89917	0.957;1.0	P;D	0.79784	0.86;0.993	T	0.83310	-0.0023	10	0.36615	T	0.2	-21.7846	17.1334	0.86732	0.0:1.0:0.0:0.0	.	73;73	B4DYD9;A5D8V6	.;VP37C_HUMAN	Q	73	ENSP00000301765:E73Q;ENSP00000446013:E73Q	ENSP00000301765:E73Q	E	-	1	0	VPS37C	60658132	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	3.449000	0.52950	2.496000	0.84212	0.491000	0.48974	GAG		0.622	VPS37C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396467.1		NM_017966		43	120	0	0	0	0.013114	0	43	120		
TRPT1	83707	broad.mit.edu	37	11	63991404	63991404	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:63991404C>G	ENST00000317459.6	-	8	874	c.706G>C	c.(706-708)Gag>Cag	p.E236Q	TRPT1_ENST00000546089.1_Missense_Mutation_p.E150Q|TRPT1_ENST00000394547.3_Missense_Mutation_p.E187Q|TRPT1_ENST00000541278.1_Missense_Mutation_p.E199Q|NUDT22_ENST00000441250.2_5'Flank|NUDT22_ENST00000279206.3_5'Flank|TRPT1_ENST00000546133.1_Missense_Mutation_p.E94Q|TRPT1_ENST00000540472.1_5'Flank|TRPT1_ENST00000394546.2_Missense_Mutation_p.E238Q			Q86TN4	TRPT1_HUMAN	tRNA phosphotransferase 1	236					regulation of protein kinase activity (GO:0045859)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)		tRNA 2'-phosphotransferase activity (GO:0000215)			lung(2)|skin(1)	3						CTCTGACACTCTGTCTCTTCA	0.403																																						uc001nyo.2		NaN																	0					0						c.(706-708)GAG>CAG		tRNA phosphotransferase 1 isoform 1							75.0	76.0	76.0					11																	63991404		2201	4297	6498	SO:0001583	missense	83707						tRNA 2'-phosphotransferase activity	g.chr11:63991404C>G		CCDS31595.1, CCDS44639.1, CCDS53652.1, CCDS53653.1	11q13	2012-05-03			ENSG00000149743	ENSG00000149743			20316	protein-coding gene	gene with protein product	"""tRNA splicing 2' phosphotransferase 1"""	610470				14504659	Standard	NM_001160389		Approved	MGC11134	uc010rnc.2	Q86TN4	OTTHUMG00000167844	ENST00000317459.6:c.706G>C	11.37:g.63991404C>G	ENSP00000314073:p.Glu236Gln					TRPT1_uc010rnc.1_Missense_Mutation_p.E237Q|TRPT1_uc010rnd.1_Missense_Mutation_p.E238Q|TRPT1_uc001nyn.2_Missense_Mutation_p.E187Q|TRPT1_uc010rne.1_Missense_Mutation_p.E199Q|TRPT1_uc010rnf.1_Missense_Mutation_p.E236Q|NUDT22_uc009ypd.2_5'Flank|NUDT22_uc001nyp.3_5'Flank|NUDT22_uc009ype.2_5'Flank|NUDT22_uc001nyq.3_5'Flank	p.E236Q	NM_001033678	NP_001028850	Q86TN4	TRPT1_HUMAN			8	920	-			236					A8MU17|A8MYC9|F5H2B2|Q9BSB9	Missense_Mutation	SNP	ENST00000317459.6	37	c.706G>C	CCDS31595.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.386613	0.25031	.	.	ENSG00000149743	ENST00000394547;ENST00000394546;ENST00000541278;ENST00000546133;ENST00000317459;ENST00000546089	T;T;T;T;T;T	0.52983	1.45;1.86;1.19;1.34;1.86;0.64	4.62	3.71	0.42584	.	0.398408	0.21376	N	0.075550	T	0.45296	0.1335	L	0.32530	0.975	0.09310	N	0.999999	B;P;P;P	0.47409	0.056;0.534;0.882;0.895	B;B;P;P	0.51701	0.052;0.188;0.677;0.502	T	0.25779	-1.0122	10	0.52906	T	0.07	-11.7065	8.7709	0.34731	0.0:0.8967:0.0:0.1033	.	199;238;187;236	F5H2B2;A8MU17;Q86TN4-2;Q86TN4	.;.;.;TRPT1_HUMAN	Q	187;238;199;94;236;150	ENSP00000378051:E187Q;ENSP00000378050:E238Q;ENSP00000438683:E199Q;ENSP00000439586:E94Q;ENSP00000314073:E236Q;ENSP00000437741:E150Q	ENSP00000314073:E236Q	E	-	1	0	TRPT1	63747980	0.003000	0.15002	0.492000	0.27490	0.729000	0.41735	1.141000	0.31528	1.327000	0.45338	0.561000	0.74099	GAG		0.403	TRPT1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396579.1		NM_031472		13	116	0	0	0	0.016723	0	13	116		
FKBP2	2286	broad.mit.edu	37	11	64010754	64010754	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:64010754C>T	ENST00000394540.3	+	3	725	c.255C>T	c.(253-255)gtC>gtT	p.V85V	RP11-783K16.5_ENST00000544553.1_RNA|FKBP2_ENST00000309366.4_Silent_p.V85V|FKBP2_ENST00000449942.2_Silent_p.V85V	NM_057092.2	NP_476433.1	P26885	FKBP2_HUMAN	FK506 binding protein 2, 13kDa	85	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			endometrium(2)|lung(3)	5						CAGGCCAGGTCATCAAGGGCT	0.622																																						uc001nyy.2		NaN																	0					0						c.(253-255)GTC>GTT		FK506 binding protein 2, 13kDa precursor							39.0	41.0	40.0					11																	64010754		2201	4297	6498	SO:0001819	synonymous_variant	2286				protein folding	endoplasmic reticulum membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding	g.chr11:64010754C>T	M75099	CCDS8063.1	11q13.1-q13.3	2008-07-18	2002-08-29			ENSG00000173486			3718	protein-coding gene	gene with protein product	"""FK506 binding protein 2 (13kD)"", ""peptidyl-prolyl cis-trans isomerase"", ""rapamycin-binding protein"", ""proline isomerase"""	186946	"""FK506-binding protein 2 (13kD)"""			1713687	Standard	NM_004470		Approved	FKBP-13, PPIase	uc001nyy.3	P26885		ENST00000394540.3:c.255C>T	11.37:g.64010754C>T						FKBP2_uc010rnh.1_Silent_p.V85V|FKBP2_uc001nyz.2_Silent_p.V85V	p.V85V	NM_004470	NP_004461	P26885	FKBP2_HUMAN			3	451	+			85			PPIase FKBP-type.		Q5BJH9|Q9BTS7	Silent	SNP	ENST00000394540.3	37	c.255C>T	CCDS8063.1																																																																																				0.622	FKBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396401.2		NM_004470		17	57	0	0	0	0.004007	0	17	57		
PLCB3	5331	broad.mit.edu	37	11	64033975	64033975	+	Missense_Mutation	SNP	C	C	G	rs575846795		TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:64033975C>G	ENST00000540288.1	+	29	3468	c.3365C>G	c.(3364-3366)aCg>aGg	p.T1122R	PLCB3_ENST00000325234.5_Missense_Mutation_p.T1055R|PLCB3_ENST00000279230.6_Missense_Mutation_p.T1122R	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	1122					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						AGGGAACTGACGGAGATTAAC	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		19041	0.0		0.0	False		,,,				2504	0.001					uc001nzb.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(3364-3366)ACG>AGG		phospholipase C beta 3							103.0	94.0	97.0					11																	64033975		2201	4297	6498	SO:0001583	missense	5331				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr11:64033975C>G	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.3365C>G	11.37:g.64033975C>G	ENSP00000443631:p.Thr1122Arg					PLCB3_uc009ypg.1_Missense_Mutation_p.T1122R|PLCB3_uc009yph.1_Missense_Mutation_p.T1055R|PLCB3_uc009ypi.2_Missense_Mutation_p.T1122R	p.T1122R	NM_000932	NP_000923	Q01970	PLCB3_HUMAN			29	3365	+			1122					A5PKZ6|G5E960|Q8N1A4	Missense_Mutation	SNP	ENST00000540288.1	37	c.3365C>G	CCDS8064.1	.	.	.	.	.	.	.	.	.	.	C	8.608	0.888438	0.17540	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	T;T;T	0.35421	1.31;1.31;1.31	4.83	3.87	0.44632	PLC-beta, C-terminal (1);	0.366938	0.29152	N	0.012997	T	0.46347	0.1388	L	0.53249	1.67	0.45718	D	0.998621	D;B	0.76494	0.999;0.448	D;B	0.65684	0.937;0.24	T	0.38222	-0.9671	10	0.02654	T	1	.	14.1436	0.65336	0.0:0.8493:0.1507:0.0	.	1055;1122	G5E960;Q01970	.;PLCB3_HUMAN	R	1122;1122;1055	ENSP00000279230:T1122R;ENSP00000443631:T1122R;ENSP00000324660:T1055R	ENSP00000279230:T1122R	T	+	2	0	PLCB3	63790551	0.956000	0.32656	0.989000	0.46669	0.970000	0.65996	2.132000	0.42083	2.523000	0.85059	0.555000	0.69702	ACG		0.652	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1				9	66	0	0	0	0.008291	0	9	66		
SLC22A12	116085	broad.mit.edu	37	11	64360326	64360326	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:64360326G>A	ENST00000377574.1	+	2	1225	c.478G>A	c.(478-480)Gct>Act	p.A160T	SLC22A12_ENST00000473690.1_De_novo_Start_InFrame|SLC22A12_ENST00000377567.2_Missense_Mutation_p.A160T|SLC22A12_ENST00000336464.7_Missense_Mutation_p.A160T|SLC22A12_ENST00000377572.1_Missense_Mutation_p.A160T	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	160					cellular homeostasis (GO:0019725)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|urate transmembrane transporter activity (GO:0015143)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27					Losartan(DB00678)|Probenecid(DB01032)	TCTGGTGGGAGCTGCTGCGTG	0.632																																						uc001oam.1		NaN																	0				ovary(1)	1						c.(478-480)GCT>ACT		urate anion exchanger 1 isoform a							116.0	99.0	104.0					11																	64360326		2201	4297	6498	SO:0001583	missense	116085				cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity	g.chr11:64360326G>A	AB071863	CCDS8075.1, CCDS60835.1, CCDS60836.1	11q13.1	2013-05-22	2008-01-11		ENSG00000197891	ENSG00000197891		"""Solute carriers"""	17989	protein-coding gene	gene with protein product		607096	"""solute carrier family 22 (organic anion/cation transporter), member 12"""			12024214	Standard	NM_144585		Approved	OAT4L, RST, URAT1	uc009yps.2	Q96S37	OTTHUMG00000045213	ENST00000377574.1:c.478G>A	11.37:g.64360326G>A	ENSP00000366797:p.Ala160Thr					SLC22A12_uc009ypr.1_Missense_Mutation_p.A160T|SLC22A12_uc001oal.1_5'UTR|SLC22A12_uc009yps.1_Missense_Mutation_p.A160T|SLC22A12_uc001oan.1_Missense_Mutation_p.A160T|SLC22A12_uc009ypt.2_5'Flank	p.A160T	NM_144585	NP_653186	Q96S37	S22AC_HUMAN			2	1225	+			160			Helical; (Potential).		B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2	Missense_Mutation	SNP	ENST00000377574.1	37	c.478G>A	CCDS8075.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.088726	0.76756	.	.	ENSG00000197891	ENST00000377567;ENST00000377574;ENST00000377572;ENST00000336464	T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34	4.71	2.82	0.32997	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.121727	0.53938	D	0.000050	D	0.86826	0.6026	M	0.85041	2.73	0.26220	N	0.979171	D;D;P;D	0.63880	0.993;0.987;0.864;0.987	P;P;P;P	0.60236	0.871;0.843;0.514;0.843	T	0.78386	-0.2224	10	0.59425	D	0.04	.	7.9395	0.29950	0.2013:0.0:0.7987:0.0	.	160;160;160;160	B5ME56;B3KV05;Q96S37-2;Q96S37	.;.;.;S22AC_HUMAN	T	160	ENSP00000366790:A160T;ENSP00000366797:A160T;ENSP00000366795:A160T;ENSP00000336836:A160T	ENSP00000336836:A160T	A	+	1	0	SLC22A12	64116902	0.967000	0.33354	0.828000	0.32881	0.577000	0.36160	3.083000	0.50136	0.966000	0.38159	0.561000	0.74099	GCT		0.632	SLC22A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104966.2		NM_144585		21	105	0	0	0	0.014323	0	21	105		
ATG2A	23130	broad.mit.edu	37	11	64665359	64665359	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:64665359C>T	ENST00000377264.3	-	35	5058	c.4946G>A	c.(4945-4947)gGa>gAa	p.G1649E	ATG2A_ENST00000421419.2_Missense_Mutation_p.G1651E	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1649					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						GTGTCCACCTCCTGGGGCCTC	0.697																																						uc001obx.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(4945-4947)GGA>GAA		autophagy related 2A							30.0	35.0	33.0					11																	64665359		2200	4297	6497	SO:0001583	missense	23130						protein binding	g.chr11:64665359C>T		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.4946G>A	11.37:g.64665359C>T	ENSP00000366475:p.Gly1649Glu					ATG2A_uc001obw.2_Missense_Mutation_p.G414E	p.G1649E	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN			35	5061	-			1649					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	c.4946G>A	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	C	8.439	0.850488	0.17034	.	.	ENSG00000110046	ENST00000421419;ENST00000377264	T;T	0.05786	3.39;3.39	4.38	2.35	0.29111	.	0.427833	0.24130	N	0.041267	T	0.03739	0.0106	L	0.31664	0.95	0.09310	N	1	P;P	0.47910	0.842;0.902	B;B	0.43301	0.236;0.415	T	0.16335	-1.0406	10	0.02654	T	1	.	4.6206	0.12447	0.2176:0.6699:0.0:0.1125	.	1649;1651	Q2TAZ0;Q2TAZ0-3	ATG2A_HUMAN;.	E	1651;1649	ENSP00000410522:G1651E;ENSP00000366475:G1649E	ENSP00000366475:G1649E	G	-	2	0	ATG2A	64421935	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	0.517000	0.22832	1.194000	0.43101	0.561000	0.74099	GGA		0.697	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1		NM_015104		7	49	0	0	0	0.004482	0	7	49		
PPP2R5B	5526	broad.mit.edu	37	11	64699064	64699064	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:64699064A>G	ENST00000164133.2	+	10	1601	c.979A>G	c.(979-981)Acc>Gcc	p.T327A		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	327					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						CTGGCCAAAAACCTGCACCCA	0.587																																						uc001oby.2		NaN																	0				ovary(2)	2						c.(979-981)ACC>GCC		beta isoform of regulatory subunit B56, protein							40.0	38.0	39.0					11																	64699064		2201	4297	6498	SO:0001583	missense	5526				signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr11:64699064A>G	L42374	CCDS8085.1	11q12	2010-06-18	2010-04-14		ENSG00000068971	ENSG00000068971		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9310	protein-coding gene	gene with protein product	"""PP2A, B subunit, B' beta isoform"", ""PP2A, B subunit, B56 beta isoform"", ""PP2A, B subunit, PR61 beta isoform"", ""PP2A, B subunit, R5 beta isoform"", ""serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, beta isoform"""	601644	"""protein phosphatase 2, regulatory subunit B (B56), beta isoform"", ""protein phosphatase 2, regulatory subunit B', beta isoform"""			7592815	Standard	NM_006244		Approved	FLJ35411, B56B, PR61B	uc001oby.3	Q15173	OTTHUMG00000150043	ENST00000164133.2:c.979A>G	11.37:g.64699064A>G	ENSP00000164133:p.Thr327Ala					PPP2R5B_uc001obz.2_Missense_Mutation_p.T327A	p.T327A	NM_006244	NP_006235	Q15173	2A5B_HUMAN			10	1564	+			327					Q13853	Missense_Mutation	SNP	ENST00000164133.2	37	c.979A>G	CCDS8085.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.2|24.2	4.503680|4.503680	0.85176|0.85176	.|.	.|.	ENSG00000068971|ENSG00000068971	ENST00000359279|ENST00000164133;ENST00000527441	.|.	.|.	.|.	4.53|4.53	4.53|4.53	0.55603|0.55603	.|Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.79161|0.79161	0.4399|0.4399	M|M	0.89715|0.89715	3.055|3.055	0.80722|0.80722	D|D	1|1	.|P	.|0.51653	.|0.947	.|P	.|0.59171	.|0.853	D|D	0.83661|0.83661	0.0161|0.0161	6|9	0.46703|0.87932	T|D	0.11|0	-27.8238|-27.8238	12.1357|12.1357	0.53970|0.53970	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|327	.|Q15173	.|2A5B_HUMAN	S|A	352|327	.|.	ENSP00000352225:N352S|ENSP00000164133:T327A	N|T	+|+	2|1	0|0	PPP2R5B|PPP2R5B	64455640|64455640	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	8.647000|8.647000	0.91057|0.91057	2.030000|2.030000	0.59900|0.59900	0.379000|0.379000	0.24179|0.24179	AAC|ACC		0.587	PPP2R5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385465.1		NM_006244		3	16	0	0	0	0.004672	0	3	16		
PPFIA1	8500	broad.mit.edu	37	11	70201868	70201868	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:70201868G>A	ENST00000253925.7	+	18	2654	c.2439G>A	c.(2437-2439)aaG>aaA	p.K813K	AP000487.6_ENST00000528607.1_RNA|AP000487.4_ENST00000324630.5_RNA|PPFIA1_ENST00000389547.3_Silent_p.K813K	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	813					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TGTTTGGCAAGAAAGAAAAGG	0.547																																						uc001opo.2		NaN																	0				lung(2)|ovary(1)	3						c.(2437-2439)AAG>AAA		PTPRF interacting protein alpha 1 isoform b							95.0	97.0	96.0					11																	70201868		2200	4294	6494	SO:0001819	synonymous_variant	8500				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70201868G>A	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.2439G>A	11.37:g.70201868G>A						PPFIA1_uc001opn.1_Silent_p.K813K|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_RNA	p.K813K	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		18	2637	+			813					A6NLE3|Q13135|Q14567|Q8N4I2	Silent	SNP	ENST00000253925.7	37	c.2439G>A	CCDS31627.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.567|9.567	1.120029|1.120029	0.20877|0.20877	.|.	.|.	ENSG00000131626|ENSG00000131626	ENST00000530798|ENST00000528750	.|.	.|.	.|.	5.3|5.3	3.44|3.44	0.39384|0.39384	.|.	.|.	.|.	.|.	.|.	T|T	0.58750|0.58750	0.2144|0.2144	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.53486|0.53486	-0.8432|-0.8432	4|4	.|.	.|.	.|.	.|.	9.2005|9.2005	0.37256|0.37256	0.2211:0.0:0.7789:0.0|0.2211:0.0:0.7789:0.0	.|.	.|.	.|.	.|.	K|K	206|256	.|.	.|.	E|R	+|+	1|2	0|0	PPFIA1|PPFIA1	69879516|69879516	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.878000|0.878000	0.50629|0.50629	3.901000|3.901000	0.56303|0.56303	0.743000|0.743000	0.32719|0.32719	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.547	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1		NM_003626		27	62	0	0	0	0.007291	0	27	62		
RNF121	55298	broad.mit.edu	37	11	71668300	71668300	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:71668300G>C	ENST00000361756.3	+	2	452	c.91G>C	c.(91-93)Gag>Cag	p.E31Q	RNF121_ENST00000545854.1_Intron|RNF121_ENST00000490867.1_3'UTR|RNF121_ENST00000530137.1_Intron|RNF121_ENST00000393713.3_Intron|RNF121_ENST00000533380.1_Intron	NM_018320.4	NP_060790.2	Q9H920	RN121_HUMAN	ring finger protein 121	31						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.E31Q(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						CTCTCCAGAAGAGCAATGGAG	0.443																																						uc001ora.2		NaN																	1	Substitution - Missense(1)		lung(1)		0						c.(91-93)GAG>CAG		ring finger protein 121							171.0	162.0	165.0					11																	71668300		2200	4293	6493	SO:0001583	missense	55298					integral to membrane	zinc ion binding	g.chr11:71668300G>C	AK001961	CCDS8203.1, CCDS73343.1	11q13.3	2008-02-05			ENSG00000137522	ENSG00000137522		"""RING-type (C3HC4) zinc fingers"""	21070	protein-coding gene	gene with protein product							Standard	NM_018320		Approved	FLJ11099	uc001ora.3	Q9H920	OTTHUMG00000157023	ENST00000361756.3:c.91G>C	11.37:g.71668300G>C	ENSP00000354571:p.Glu31Gln					RNF121_uc001ord.2_Intron|RNF121_uc001orb.2_Intron|RNF121_uc009yst.2_Intron	p.E31Q	NM_018320	NP_060790	Q9H920	RN121_HUMAN			2	431	+			31					B3KSW8|Q6IA57|Q6P449|Q96DB4	Missense_Mutation	SNP	ENST00000361756.3	37	c.91G>C	CCDS8203.1	.	.	.	.	.	.	.	.	.	.	G	18.94	3.729309	0.69074	.	.	ENSG00000137522	ENST00000361756	T	0.43294	0.95	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.53932	0.1827	M	0.63843	1.955	0.80722	D	1	D	0.59357	0.985	P	0.54590	0.756	T	0.52997	-0.8500	10	0.40728	T	0.16	.	15.4411	0.75184	0.0:0.0:1.0:0.0	.	31	Q9H920	RN121_HUMAN	Q	31	ENSP00000354571:E31Q	ENSP00000354571:E31Q	E	+	1	0	RNF121	71345948	1.000000	0.71417	1.000000	0.80357	0.660000	0.38997	8.201000	0.89735	2.506000	0.84524	0.467000	0.42956	GAG		0.443	RNF121-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347132.1		NM_018320		21	103	0	0	0	0.024334	0	21	103		
KDM4D	55693	broad.mit.edu	37	11	94731431	94731431	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:94731431C>T	ENST00000335080.5	+	3	1727	c.895C>T	c.(895-897)Cga>Tga	p.R299*	KDM4D_ENST00000536741.1_Nonsense_Mutation_p.R299*	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	299	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TGCCACTCCGCGATGGATTGA	0.537																																						uc001pfe.2		NaN																	0					0						c.(895-897)CGA>TGA		jumonji domain containing 2D							66.0	68.0	67.0					11																	94731431		2201	4298	6499	SO:0001587	stop_gained	55693				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:94731431C>T	AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280		"""Chromatin-modifying enzymes / K-demethylases"""	25498	protein-coding gene	gene with protein product		609766	"""jumonji domain containing 2D"""	JMJD2D		15138608	Standard	NM_018039		Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838	ENST00000335080.5:c.895C>T	11.37:g.94731431C>T	ENSP00000334181:p.Arg299*						p.R299*	NM_018039	NP_060509	Q6B0I6	KDM4D_HUMAN			3	1727	+			299			JmjC.		B3KPC4|Q0VF39|Q9NT41|Q9NW76	Nonsense_Mutation	SNP	ENST00000335080.5	37	c.895C>T	CCDS8302.1	.	.	.	.	.	.	.	.	.	.	C	37	6.442254	0.97572	.	.	ENSG00000186280	ENST00000335080	.	.	.	3.73	1.73	0.24493	.	0.000000	0.64402	U	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.942	9.4971	0.38995	0.5811:0.4189:0.0:0.0	.	.	.	.	X	299	.	ENSP00000334181:R299X	R	+	1	2	KDM4D	94371079	0.850000	0.29656	0.023000	0.16930	0.275000	0.26752	1.648000	0.37271	0.493000	0.27837	0.462000	0.41574	CGA		0.537	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396558.2		NM_018039		19	81	0	0	0	0.007413	0	19	81		
MMP10	4319	broad.mit.edu	37	11	102645984	102645984	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:102645984G>C	ENST00000279441.4	-	7	1037	c.1001C>G	c.(1000-1002)tCt>tGt	p.S334C		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	334					collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	Marimastat(DB00786)	TGATGGAAGAGAGGGCCAAAA	0.353																																						uc001phg.1		NaN																	0				kidney(1)|lung(1)|breast(1)|central_nervous_system(1)	4						c.(1000-1002)TCT>TGT		matrix metalloproteinase 10 preproprotein							69.0	70.0	70.0					11																	102645984		2203	4299	6502	SO:0001583	missense	4319				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102645984G>C	X07820	CCDS8321.1	11q22.3	2008-02-05	2005-08-08		ENSG00000166670	ENSG00000166670	3.4.24.22		7156	protein-coding gene	gene with protein product		185260	"""matrix metalloproteinase 10 (stromelysin 2)"""	STMY2			Standard	NM_002425		Approved		uc001phg.2	P09238	OTTHUMG00000168083	ENST00000279441.4:c.1001C>G	11.37:g.102645984G>C	ENSP00000279441:p.Ser334Cys						p.S334C	NM_002425	NP_002416	P09238	MMP10_HUMAN	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	7	1023	-	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	334			Hemopexin-like 1.		B2R9X9|Q53HH9	Missense_Mutation	SNP	ENST00000279441.4	37	c.1001C>G	CCDS8321.1	.	.	.	.	.	.	.	.	.	.	G	9.209	1.030502	0.19512	.	.	ENSG00000166670	ENST00000279441	T	0.02763	4.17	4.23	3.32	0.38043	Hemopexin/matrixin, conserved site (1);Hemopexin/matrixin (2);	0.723751	0.12799	N	0.438173	T	0.14743	0.0356	M	0.90252	3.1	0.09310	N	0.999999	D	0.71674	0.998	D	0.65573	0.936	T	0.10132	-1.0643	10	0.72032	D	0.01	.	5.3887	0.16231	0.229:0.1623:0.6087:0.0	.	334	P09238	MMP10_HUMAN	C	334	ENSP00000279441:S334C	ENSP00000279441:S334C	S	-	2	0	MMP10	102151194	0.000000	0.05858	0.954000	0.39281	0.121000	0.20230	0.655000	0.24933	1.117000	0.41842	0.650000	0.86243	TCT		0.353	MMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398014.1				15	74	0	0	0	0.004007	0	15	74		
ARHGAP20	57569	broad.mit.edu	37	11	110582896	110582896	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:110582896G>C	ENST00000260283.4	-	2	343	c.59C>G	c.(58-60)tCc>tGc	p.S20C	ARHGAP20_ENST00000528829.1_Intron|ARHGAP20_ENST00000527598.1_Intron|ARHGAP20_ENST00000524756.1_5'Flank|ARHGAP20_ENST00000533353.1_Intron	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	20					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TCCTGTCAGGGAAGAGGAGCG	0.662																																						uc001pkz.1		NaN																	0				ovary(3)|kidney(2)	5						c.(58-60)TCC>TGC		Rho GTPase activating protein 20							7.0	9.0	8.0					11																	110582896		2172	4269	6441	SO:0001583	missense	57569				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:110582896G>C	AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"""Rho GTPase activating proteins"""	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.59C>G	11.37:g.110582896G>C	ENSP00000260283:p.Ser20Cys					ARHGAP20_uc001pky.1_5'Flank|ARHGAP20_uc009yyb.1_Intron|ARHGAP20_uc001pla.1_Intron	p.S20C	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)	2	344	-		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	20					A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	ENST00000260283.4	37	c.59C>G	CCDS31673.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688871	0.68271	.	.	ENSG00000137727	ENST00000260283	T	0.12255	2.7	3.78	3.78	0.43462	.	0.106561	0.37053	N	0.002277	T	0.23289	0.0563	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.01621	-1.1310	10	0.66056	D	0.02	.	11.1468	0.48434	0.0:0.0:1.0:0.0	.	20	Q9P2F6	RHG20_HUMAN	C	20	ENSP00000260283:S20C	ENSP00000260283:S20C	S	-	2	0	ARHGAP20	110088106	1.000000	0.71417	0.999000	0.59377	0.887000	0.51463	2.337000	0.43947	1.656000	0.50722	0.455000	0.32223	TCC		0.662	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1		NM_020809		6	6	0	0	0	0.001984	0	6	6		
TTC36	143941	broad.mit.edu	37	11	118399370	118399370	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:118399370G>C	ENST00000302783.4	+	2	194	c.171G>C	c.(169-171)caG>caC	p.Q57H	RP11-770J1.3_ENST00000528578.1_RNA|TMEM25_ENST00000442938.2_5'Flank|TMEM25_ENST00000313236.5_5'Flank|TTC36_ENST00000539546.1_5'UTR|TMEM25_ENST00000544878.1_5'Flank|TMEM25_ENST00000533102.1_5'Flank|RP11-770J1.3_ENST00000532597.1_RNA|RP11-770J1.3_ENST00000556583.1_RNA|TMEM25_ENST00000524725.1_5'Flank|RP11-770J1.3_ENST00000525992.2_RNA|TMEM25_ENST00000354284.4_5'Flank|TMEM25_ENST00000359862.4_5'Flank|TMEM25_ENST00000354064.7_5'Flank|RP11-770J1.3_ENST00000554407.1_RNA|TMEM25_ENST00000411589.2_5'Flank	NM_001080441.1	NP_001073910.1	A6NLP5	TTC36_HUMAN	tetratricopeptide repeat domain 36	57										lung(2)	2						TGGAGCTGCAGGGGGTGATGG	0.607																																						uc001ptg.1		NaN																	0					0						c.(169-171)CAG>CAC		tetratricopeptide repeat domain 36							61.0	61.0	61.0					11																	118399370		2200	4295	6495	SO:0001583	missense	143941						binding	g.chr11:118399370G>C	EU489483	CCDS31687.1	11q23.3	2013-01-10			ENSG00000172425	ENSG00000172425		"""Tetratricopeptide (TTC) repeat domain containing"""	33708	protein-coding gene	gene with protein product	"""HSP70 binding protein 21"""						Standard	NM_001080441		Approved	HBP21	uc001ptg.1	A6NLP5	OTTHUMG00000166338	ENST00000302783.4:c.171G>C	11.37:g.118399370G>C	ENSP00000307640:p.Gln57His					TTC36_uc010ryb.1_RNA|TTC36_uc010ryc.1_5'UTR|TMEM25_uc010ryd.1_5'Flank|TMEM25_uc001ptk.3_5'Flank|TMEM25_uc010rye.1_5'Flank|TMEM25_uc001pth.2_5'Flank|TMEM25_uc009zad.2_5'Flank|TMEM25_uc001pti.2_5'Flank|TMEM25_uc010ryf.1_5'Flank|TMEM25_uc001ptl.2_5'Flank|TMEM25_uc001ptm.2_5'Flank	p.Q57H	NM_001080441	NP_001073910	A6NLP5	TTC36_HUMAN			2	171	+			57			TPR 1.		B7ZW72|B9EJD8	Missense_Mutation	SNP	ENST00000302783.4	37	c.171G>C	CCDS31687.1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.627497	0.66901	.	.	ENSG00000172425	ENST00000302783	T	0.60299	0.2	5.16	2.25	0.28309	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.182059	0.51477	D	0.000093	T	0.63331	0.2502	L	0.54323	1.7	0.80722	D	1	D	0.63880	0.993	D	0.64321	0.924	T	0.60752	-0.7201	10	0.72032	D	0.01	-11.8734	5.0963	0.14735	0.229:0.0:0.6284:0.1426	.	57	A6NLP5	TTC36_HUMAN	H	57	ENSP00000307640:Q57H	ENSP00000307640:Q57H	Q	+	3	2	TTC36	117904580	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.687000	0.54692	0.191000	0.20236	0.561000	0.74099	CAG		0.607	TTC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389241.2		NM_001080441		14	77	0	0	0	0.020292	0	14	77		
OR8D1	283159	broad.mit.edu	37	11	124180599	124180599	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:124180599C>T	ENST00000357821.2	-	1	134	c.64G>A	c.(64-66)Gag>Aag	p.E22K		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		AGCTGGAGCTCTGCTTGCTGT	0.453																																						uc010sag.1		NaN																	0				ovary(2)|skin(1)	3						c.(64-66)GAG>AAG		olfactory receptor, family 8, subfamily D,							86.0	89.0	88.0					11																	124180599		2201	4299	6500	SO:0001583	missense	283159				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124180599C>T	AF238489	CCDS31706.1	11q25	2012-08-09			ENSG00000196341	ENSG00000196341		"""GPCR / Class A : Olfactory receptors"""	8481	protein-coding gene	gene with protein product				OR8D3			Standard	NM_001002917		Approved	OST004	uc010sag.2	Q8WZ84	OTTHUMG00000165977	ENST00000357821.2:c.64G>A	11.37:g.124180599C>T	ENSP00000350474:p.Glu22Lys						p.E22K	NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)	1	64	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	22			Extracellular (Potential).		B2RNL4|Q6IEW1|Q8NGH0	Missense_Mutation	SNP	ENST00000357821.2	37	c.64G>A	CCDS31706.1	.	.	.	.	.	.	.	.	.	.	c	10.56	1.383715	0.25031	.	.	ENSG00000196341	ENST00000357821	T	0.00441	7.41	4.09	1.08	0.20341	.	0.000000	0.37261	U	0.002175	T	0.00356	0.0011	L	0.49571	1.57	0.19300	N	0.999972	P	0.48998	0.918	P	0.45660	0.489	T	0.53251	-0.8465	10	0.56958	D	0.05	.	5.4458	0.16535	0.0:0.5936:0.1446:0.2618	.	22	Q8WZ84	OR8D1_HUMAN	K	22	ENSP00000350474:E22K	ENSP00000350474:E22K	E	-	1	0	OR8D1	123685809	0.152000	0.22762	0.968000	0.41197	0.028000	0.11728	2.555000	0.45854	0.136000	0.18733	0.603000	0.83216	GAG		0.453	OR8D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387285.1		NM_001002917		61	132	0	0	0	0.01441	0	61	132		
HYLS1	219844	broad.mit.edu	37	11	125769668	125769668	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:125769668G>A	ENST00000425380.2	+	3	1186	c.405G>A	c.(403-405)ctG>ctA	p.L135L	HYLS1_ENST00000356438.3_Silent_p.L135L|PUS3_ENST00000227474.3_Intron|HYLS1_ENST00000526028.1_Silent_p.L135L	NM_001134793.1	NP_001128265.1	Q96M11	HYLS1_HUMAN	hydrolethalus syndrome 1	135						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|skin(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)		GACAAAGGCTGATGAATGTAC	0.383																																					Esophageal Squamous(172;2590 2636 8884 10471)	uc009zbv.2		NaN																	0				upper_aerodigestive_tract(1)	1						c.(403-405)CTG>CTA		hydrolethalus syndrome 1							99.0	99.0	99.0					11																	125769668		2201	4299	6500	SO:0001819	synonymous_variant	219844					centrosome|nucleus		g.chr11:125769668G>A	AK057477	CCDS8467.1	11q24	2014-06-18				ENSG00000198331			26558	protein-coding gene	gene with protein product		610693				15843405	Standard	NM_145014		Approved	FLJ32915	uc009zbv.3	Q96M11		ENST00000425380.2:c.405G>A	11.37:g.125769668G>A						HYLS1_uc001qcx.3_Silent_p.L135L|PUS3_uc001qcy.2_Intron	p.L135L	NM_145014	NP_659451	Q96M11	HYLS1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)	4	939	+	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)	135					B3KXI8|Q96BX9	Silent	SNP	ENST00000425380.2	37	c.405G>A	CCDS8467.1																																																																																				0.383	HYLS1-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386733.1		NM_145014		52	118	0	0	0	0.01441	0	52	118		
NTM	50863	broad.mit.edu	37	11	132016342	132016342	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:132016342C>A	ENST00000374786.1	+	2	813	c.334C>A	c.(334-336)Cct>Act	p.P112T	NTM_ENST00000374784.1_Missense_Mutation_p.P112T|NTM_ENST00000539799.1_Missense_Mutation_p.P112T|NTM_ENST00000425719.2_Missense_Mutation_p.P112T|NTM_ENST00000374791.3_Missense_Mutation_p.P112T|NTM_ENST00000427481.2_Missense_Mutation_p.P103T	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	112	Ig-like C2-type 1.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						TGACGAGGGCCCTTACACCTG	0.577																																						uc001qgp.2		NaN																	0		p.P112H(1)		ovary(4)|central_nervous_system(1)|skin(1)	6						c.(334-336)CCT>ACT		neurotrimin isoform 1							167.0	115.0	133.0					11																	132016342		2201	4297	6498	SO:0001583	missense	50863				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		g.chr11:132016342C>A	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.334C>A	11.37:g.132016342C>A	ENSP00000363918:p.Pro112Thr					NTM_uc001qgm.2_Missense_Mutation_p.P112T|NTM_uc010sch.1_Missense_Mutation_p.P103T|NTM_uc010sci.1_Missense_Mutation_p.P112T|NTM_uc010scj.1_Missense_Mutation_p.P71T|NTM_uc001qgo.2_Missense_Mutation_p.P112T|NTM_uc001qgq.2_Missense_Mutation_p.P112T	p.P112T	NM_016522	NP_057606	Q9P121	NTRI_HUMAN			2	998	+			112			Ig-like C2-type 1.		A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation	SNP	ENST00000374786.1	37	c.334C>A	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124295	0.56613	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000550167;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	T;T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21	5.58	5.58	0.84498	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.051205	0.85682	D	0.000000	T	0.66819	0.2828	N	0.16656	0.425	0.58432	D	0.99999	D;B;B;B;P;B	0.52996	0.957;0.347;0.168;0.347;0.547;0.313	P;P;B;P;B;B	0.58266	0.836;0.67;0.137;0.589;0.287;0.193	T	0.62732	-0.6792	10	0.20519	T	0.43	-17.1243	19.5604	0.95369	0.0:1.0:0.0:0.0	.	112;103;112;112;112;112	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2	.;.;.;NTRI_HUMAN;.;.	T	112;112;103;103;112;112;112	ENSP00000363923:P112T;ENSP00000437668:P112T;ENSP00000448104:P103T;ENSP00000416320:P103T;ENSP00000363918:P112T;ENSP00000396722:P112T;ENSP00000363916:P112T	ENSP00000363916:P112T	P	+	1	0	NTM	131521552	1.000000	0.71417	0.989000	0.46669	0.953000	0.61014	6.062000	0.71155	2.631000	0.89168	0.655000	0.94253	CCT		0.577	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1		NM_016522		12	88	1	0	1.49906e-05	0.020292	1.544e-05	12	88		
KLRB1	3820	broad.mit.edu	37	12	9752379	9752379	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:9752379G>T	ENST00000229402.3	-	3	289	c.243C>A	c.(241-243)agC>agA	p.S81R		NM_002258.2	NP_002249.1	Q12918	KLRB1_HUMAN	killer cell lectin-like receptor subfamily B, member 1	81					cell surface receptor signaling pathway (GO:0007166)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|large_intestine(6)|lung(4)	12						TTTTATTCCTGCTCTGTTGAA	0.318																																						uc010sgt.1		NaN																	0					0						c.(241-243)AGC>AGA		killer cell lectin-like receptor subfamily B,							228.0	210.0	216.0					12																	9752379		2203	4300	6503	SO:0001583	missense	3820				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:9752379G>T	U11276	CCDS8601.1	12p13	2014-05-22			ENSG00000111796	ENSG00000111796		"""Killer cell lectin-like receptors"", ""CD molecules"", ""C-type lectin domain containing"""	6373	protein-coding gene	gene with protein product		602890		NKR		8077657	Standard	NM_002258		Approved	CD161, NKR-P1, NKR-P1A, hNKR-P1A, CLEC5B	uc010sgt.2	Q12918	OTTHUMG00000168581	ENST00000229402.3:c.243C>A	12.37:g.9752379G>T	ENSP00000229402:p.Ser81Arg						p.S81R	NM_002258	NP_002249	Q12918	KLRB1_HUMAN			3	305	-			81			Extracellular (Potential).		Q24K24	Missense_Mutation	SNP	ENST00000229402.3	37	c.243C>A	CCDS8601.1	.	.	.	.	.	.	.	.	.	.	G	8.126	0.781912	0.16189	.	.	ENSG00000111796	ENST00000229402	T	0.35236	1.32	3.55	0.531	0.17108	C-type lectin fold (1);	0.831477	0.10341	N	0.686266	T	0.24122	0.0584	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23154	-1.0196	10	0.51188	T	0.08	-1.5125	6.1127	0.20110	0.0:0.1856:0.4406:0.3738	.	81	Q12918	KLRB1_HUMAN	R	81	ENSP00000229402:S81R	ENSP00000229402:S81R	S	-	3	2	KLRB1	9643646	0.000000	0.05858	0.001000	0.08648	0.067000	0.16453	-0.622000	0.05553	0.099000	0.17552	0.655000	0.94253	AGC		0.318	KLRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400280.1		NM_002258		42	127	1	0	5.73435e-26	0.01441	6.34074e-26	42	127		
WBP11	51729	broad.mit.edu	37	12	14949871	14949871	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:14949871C>T	ENST00000261167.2	-	5	490	c.257G>A	c.(256-258)cGt>cAt	p.R86H		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	86					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein phosphatase type 1 regulator activity (GO:0008599)|single-stranded DNA binding (GO:0003697)|WW domain binding (GO:0050699)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						AAAGGTTTCACGCAGCTTTTT	0.338																																						uc001rci.2		NaN																	0				ovary(1)|lung(1)	2						c.(256-258)CGT>CAT		WW domain binding protein 11							123.0	115.0	118.0					12																	14949871		2203	4298	6501	SO:0001583	missense	51729				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding	g.chr12:14949871C>T	AB029309	CCDS8666.1	12p12.3	2014-06-13			ENSG00000084463	ENSG00000084463			16461	protein-coding gene	gene with protein product	"""splicing factor, PQBP1 and PP1 interacting"", ""protein phosphatase 1, regulatory subunit 165"""					10593949	Standard	NM_016312		Approved	NPWBP, SIPP1, PPP1R165	uc001rci.3	Q9Y2W2	OTTHUMG00000168737	ENST00000261167.2:c.257G>A	12.37:g.14949871C>T	ENSP00000261167:p.Arg86His						p.R86H	NM_016312	NP_057396	Q9Y2W2	WBP11_HUMAN			5	418	-			86			Potential.		Q96AY8	Missense_Mutation	SNP	ENST00000261167.2	37	c.257G>A	CCDS8666.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.836926	0.91117	.	.	ENSG00000084463	ENST00000261167;ENST00000537574	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.76557	0.4004	M	0.66939	2.045	0.54753	D	0.999986	D	0.76494	0.999	D	0.63703	0.917	T	0.78720	-0.2094	9	0.87932	D	0	-8.2868	17.0292	0.86456	0.0:1.0:0.0:0.0	.	86	Q9Y2W2	WBP11_HUMAN	H	86	.	ENSP00000261167:R86H	R	-	2	0	WBP11	14841138	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.855000	0.69510	2.635000	0.89317	0.650000	0.86243	CGT		0.338	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400850.1		NM_016312		24	98	0	0	0	0.01892	0	24	98		
RECQL	5965	broad.mit.edu	37	12	21624414	21624414	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:21624414G>C	ENST00000444129.2	-	13	2083	c.1615C>G	c.(1615-1617)Cgt>Ggt	p.R539G	RECQL_ENST00000421138.2_Missense_Mutation_p.R539G	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	539					DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						AGATCTTCACGAGGAAGTGTG	0.388								Other identified genes with known or suspected DNA repair function																														uc001rex.2		NaN																	0				ovary(1)|lung(1)	2						c.(1615-1617)CGT>GGT	Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function	RecQ protein-like							117.0	106.0	109.0					12																	21624414		2203	4300	6503	SO:0001583	missense	5965				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding	g.chr12:21624414G>C	D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"""DNA helicase Q1-like"""	600537	"""RecQ protein-like (DNA helicase Q1-like)"""			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.1615C>G	12.37:g.21624414G>C	ENSP00000416739:p.Arg539Gly					RECQL_uc001rey.2_Missense_Mutation_p.R539G	p.R539G	NM_032941	NP_116559	P46063	RECQ1_HUMAN			14	1963	-			539					A8K6G2	Missense_Mutation	SNP	ENST00000444129.2	37	c.1615C>G	CCDS31756.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.590322	0.86851	.	.	ENSG00000004700	ENST00000444129;ENST00000421138	T;T	0.49139	0.79;0.79	5.52	5.52	0.82312	RQC domain (1);	0.000000	0.85682	D	0.000000	T	0.61426	0.2346	M	0.86953	2.85	0.80722	D	1	P	0.40066	0.701	B	0.41510	0.359	T	0.68903	-0.5286	10	0.72032	D	0.01	-7.3751	19.6361	0.95733	0.0:0.0:1.0:0.0	.	539	P46063	RECQ1_HUMAN	G	539	ENSP00000416739:R539G;ENSP00000395449:R539G	ENSP00000395449:R539G	R	-	1	0	RECQL	21515681	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.292000	0.65673	2.878000	0.98634	0.650000	0.86243	CGT		0.388	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402371.1		NM_002907		26	133	0	0	0	0.007291	0	26	133		
ITPR2	3709	broad.mit.edu	37	12	26709193	26709193	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:26709193C>A	ENST00000381340.3	-	36	5353	c.4937G>T	c.(4936-4938)aGa>aTa	p.R1646I		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1646					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	ACATCTTATTCTTGCATCGCT	0.458																																						uc001rhg.2		NaN																	0				kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14						c.(4936-4938)AGA>ATA		inositol 1,4,5-triphosphate receptor, type 2							177.0	174.0	175.0					12																	26709193		2016	4178	6194	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26709193C>A	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.4937G>T	12.37:g.26709193C>A	ENSP00000370744:p.Arg1646Ile						p.R1646I	NM_002223	NP_002214	Q14571	ITPR2_HUMAN			36	5354	-	Colorectal(261;0.0847)		1646			Cytoplasmic (Potential).		O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.4937G>T	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297067	0.60086	.	.	ENSG00000123104	ENST00000381340	T	0.67345	-0.26	5.17	5.17	0.71159	.	0.156949	0.56097	D	0.000033	T	0.71426	0.3338	M	0.79614	2.46	0.80722	D	1	B	0.28933	0.228	B	0.32090	0.14	T	0.73004	-0.4119	10	0.56958	D	0.05	.	18.6621	0.91474	0.0:1.0:0.0:0.0	.	1646	Q14571	ITPR2_HUMAN	I	1646	ENSP00000370744:R1646I	ENSP00000370744:R1646I	R	-	2	0	ITPR2	26600460	1.000000	0.71417	0.751000	0.31187	0.993000	0.82548	4.504000	0.60414	2.404000	0.81709	0.491000	0.48974	AGA		0.458	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1		NM_002223		59	134	1	0	1.14856e-27	0.01441	1.27295e-27	59	134		
ITPR2	3709	broad.mit.edu	37	12	26709224	26709224	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:26709224C>T	ENST00000381340.3	-	36	5322	c.4906G>A	c.(4906-4908)Gaa>Aaa	p.E1636K		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1636					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	AACAGCAGTTCTGGACTGTAC	0.473																																						uc001rhg.2		NaN																	0				kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14						c.(4906-4908)GAA>AAA		inositol 1,4,5-triphosphate receptor, type 2							161.0	156.0	158.0					12																	26709224		2013	4173	6186	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26709224C>T	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.4906G>A	12.37:g.26709224C>T	ENSP00000370744:p.Glu1636Lys						p.E1636K	NM_002223	NP_002214	Q14571	ITPR2_HUMAN			36	5323	-	Colorectal(261;0.0847)		1636			Cytoplasmic (Potential).		O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.4906G>A	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	32	5.153105	0.94645	.	.	ENSG00000123104	ENST00000381340	T	0.66638	-0.22	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.78874	0.4352	M	0.83774	2.66	0.80722	D	1	P	0.39282	0.666	P	0.48089	0.566	T	0.82108	-0.0620	10	0.72032	D	0.01	.	18.6621	0.91474	0.0:1.0:0.0:0.0	.	1636	Q14571	ITPR2_HUMAN	K	1636	ENSP00000370744:E1636K	ENSP00000370744:E1636K	E	-	1	0	ITPR2	26600491	1.000000	0.71417	0.906000	0.35671	0.869000	0.49853	7.375000	0.79646	2.404000	0.81709	0.491000	0.48974	GAA		0.473	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1		NM_002223		46	111	0	0	0	0.01441	0	46	111		
OVCH1	341350	broad.mit.edu	37	12	29598224	29598224	+	Silent	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:29598224G>C	ENST00000318184.5	-	23	2867	c.2868C>G	c.(2866-2868)gtC>gtG	p.V956V	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	956	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					GGACTTTCAAGACAATATAGC	0.353																																						uc001rix.1		NaN																	0				ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10						c.(2866-2868)GTC>GTG		ovochymase 1 precursor							96.0	91.0	93.0					12																	29598224		1837	4088	5925	SO:0001819	synonymous_variant	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29598224G>C	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.2868C>G	12.37:g.29598224G>C							p.V956V	NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN			23	2868	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		956			CUB 3.			Silent	SNP	ENST00000318184.5	37	c.2868C>G																																																																																					0.353	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2		NM_183378		40	97	0	0	0	0.007835	0	40	97		
KIAA1551	55196	broad.mit.edu	37	12	32133998	32133998	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:32133998C>G	ENST00000312561.4	+	4	523	c.109C>G	c.(109-111)Cag>Gag	p.Q37E	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	37																	CACAACATCTCAGAGTTCTTT	0.393																																						uc001rks.2		NaN																	0				ovary(1)|skin(1)	2						c.(109-111)CAG>GAG		hypothetical protein LOC55196							101.0	92.0	95.0					12																	32133998		2203	4300	6503	SO:0001583	missense	55196							g.chr12:32133998C>G	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.109C>G	12.37:g.32133998C>G	ENSP00000310338:p.Gln37Glu						p.Q37E	NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0114)		4	523	+	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		37					B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	c.109C>G	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	C	8.295	0.818557	0.16607	.	.	ENSG00000174718	ENST00000312561;ENST00000381054	T;T	0.08008	3.14;3.14	5.39	4.5	0.54988	.	0.901673	0.09364	N	0.812376	T	0.08358	0.0208	L	0.32530	0.975	0.09310	N	1	B	0.34290	0.447	B	0.36378	0.223	T	0.37911	-0.9685	9	.	.	.	.	8.3326	0.32195	0.1536:0.7655:0.0:0.0809	.	37	Q9HCM1	CL035_HUMAN	E	37	ENSP00000310338:Q37E;ENSP00000370442:Q37E	.	Q	+	1	0	C12orf35	32025265	0.955000	0.32602	0.012000	0.15200	0.002000	0.02628	1.769000	0.38522	1.262000	0.44165	-0.145000	0.13849	CAG		0.393	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2		NM_018169		23	120	0	0	0	0.012319	0	23	120		
ATG101	60673	broad.mit.edu	37	12	52470629	52470629	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:52470629G>A	ENST00000336854.4	+	4	790	c.312G>A	c.(310-312)caG>caA	p.Q104Q	OR7E47P_ENST00000546390.1_RNA|RP11-1100L3.7_ENST00000550301.1_RNA	NM_001098673.1|NM_021934.4	NP_001092143.1|NP_068753.2	Q9BSB4	ATGA1_HUMAN		104					autophagic vacuole assembly (GO:0000045)	pre-autophagosomal structure (GO:0000407)	identical protein binding (GO:0042802)|protein complex binding (GO:0032403)			endometrium(1)|lung(2)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(357;0.0978)		AGTTCTACCAGAAGAAGAAGT	0.592																																						uc001rzu.3		NaN																	0					0						c.(310-312)CAG>CAA		Atg13-interacting protein							102.0	90.0	94.0					12																	52470629		2203	4300	6503	SO:0001819	synonymous_variant	60673				autophagic vacuole assembly	pre-autophagosomal structure	identical protein binding|protein complex binding	g.chr12:52470629G>A																												ENST00000336854.4:c.312G>A	12.37:g.52470629G>A						C12orf44_uc009zmd.2_Silent_p.Q104Q|uc009zme.1_5'Flank	p.Q104Q	NM_021934	NP_068753	Q9BSB4	ATGA1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0978)	4	787	+			104					Q9HAE2|Q9HBN1	Silent	SNP	ENST00000336854.4	37	c.312G>A	CCDS8820.1																																																																																				0.592	C12orf44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405063.1				28	53	0	0	0	0.00632	0	28	53		
KRT79	338785	broad.mit.edu	37	12	53216964	53216964	+	Silent	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:53216964G>C	ENST00000330553.5	-	7	1237	c.1203C>G	c.(1201-1203)ctC>ctG	p.L401L		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	401	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GAGCATCCTTGAGTGCCAGCT	0.617																																						uc001sbb.2		NaN																	0				ovary(2)|skin(2)	4						c.(1201-1203)CTC>CTG		keratin 6L							94.0	86.0	89.0					12																	53216964		2203	4300	6503	SO:0001819	synonymous_variant	338785					keratin filament	structural molecule activity	g.chr12:53216964G>C	AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28930	protein-coding gene	gene with protein product	"""keratin 6-like"""	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.1203C>G	12.37:g.53216964G>C						KRT79_uc001sba.2_Silent_p.L172L	p.L401L	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN			7	1236	-			401			Rod.|Coil 2.		Q6P465|Q7Z793	Silent	SNP	ENST00000330553.5	37	c.1203C>G	CCDS8839.1																																																																																				0.617	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1		NM_175834		24	43	0	0	0	0.016522	0	24	43		
MFSD5	84975	broad.mit.edu	37	12	53646663	53646663	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:53646663C>A	ENST00000329548.4	+	2	235	c.44C>A	c.(43-45)tCc>tAc	p.S15Y	MFSD5_ENST00000534842.1_Missense_Mutation_p.S122Y	NM_032889.4	NP_116278.3	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	15					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						CTCCTGGCCTCCTGCCTGGGG	0.592																																						uc001sci.1		NaN																	0				skin(2)|ovary(1)	3						c.(43-45)TCC>TAC		major facilitator superfamily domain containing							69.0	75.0	73.0					12																	53646663		2203	4300	6503	SO:0001583	missense	84975				transport	integral to membrane		g.chr12:53646663C>A	AK097576	CCDS8851.1, CCDS53796.1	12q13.13	2012-03-09			ENSG00000182544	ENSG00000182544			28156	protein-coding gene	gene with protein product							Standard	NM_032889		Approved	MGC11308	uc001sch.2	Q6N075	OTTHUMG00000170028	ENST00000329548.4:c.44C>A	12.37:g.53646663C>A	ENSP00000332624:p.Ser15Tyr					MFSD5_uc001sch.1_Missense_Mutation_p.S122Y	p.S15Y	NM_032889	NP_116278	Q6N075	MFSD5_HUMAN			2	235	+			15			Helical; (Potential).		G3V1N7|Q6NW04|Q8N7W8|Q8NCK0|Q96IA5	Missense_Mutation	SNP	ENST00000329548.4	37	c.44C>A	CCDS8851.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.947070	0.34377	.	.	ENSG00000182544	ENST00000551660;ENST00000534842;ENST00000328704;ENST00000329548	.	.	.	4.3	2.47	0.30058	.	0.235779	0.32231	N	0.006398	T	0.19087	0.0458	N	0.19112	0.55	0.32447	N	0.545983	B;P	0.34546	0.29;0.456	B;B	0.32211	0.086;0.142	T	0.30504	-0.9976	9	0.05959	T	0.93	-9.0844	5.8323	0.18586	0.0:0.587:0.0:0.4129	.	15;122	Q6N075;G3V1N7	MFSD5_HUMAN;.	Y	122;122;122;15	.	ENSP00000331231:S122Y	S	+	2	0	MFSD5	51932930	0.990000	0.36364	0.997000	0.53966	0.965000	0.64279	2.014000	0.40951	0.472000	0.27344	0.561000	0.74099	TCC		0.592	MFSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406896.1		NM_032889		42	65	1	0	8.16277e-20	0.027894	8.96414e-20	42	65		
NCKAP1L	3071	broad.mit.edu	37	12	54902260	54902260	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:54902260C>T	ENST00000293373.6	+	5	530	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R101W	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	151					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GATTGAAGATCGGCGGATACT	0.423																																						uc001sgc.3		NaN																	0				ovary(3)|central_nervous_system(1)	4						c.(451-453)CGG>TGG		NCK-associated protein 1-like							265.0	245.0	252.0					12																	54902260		2203	4300	6503	SO:0001583	missense	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54902260C>T	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.451C>T	12.37:g.54902260C>T	ENSP00000293373:p.Arg151Trp					NCKAP1L_uc010sox.1_5'UTR|NCKAP1L_uc010soy.1_Missense_Mutation_p.R101W	p.R151W	NM_005337	NP_005328	P55160	NCKPL_HUMAN			5	530	+			151					B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	c.451C>T	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182095	0.78677	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.57752	0.38;0.38	6.07	5.17	0.71159	.	0.062618	0.64402	D	0.000010	T	0.68604	0.3019	M	0.68952	2.095	0.46901	D	0.999245	D	0.89917	1.0	D	0.71870	0.975	T	0.72050	-0.4407	10	0.87932	D	0	-5.4134	12.1811	0.54211	0.3105:0.6895:0.0:0.0	.	151	P55160	NCKPL_HUMAN	W	151;101	ENSP00000293373:R151W;ENSP00000445596:R101W	ENSP00000293373:R151W	R	+	1	2	NCKAP1L	53188527	0.684000	0.27642	0.973000	0.42090	0.987000	0.75469	1.613000	0.36900	1.535000	0.49220	0.655000	0.94253	CGG		0.423	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1		NM_005337		136	259	0	0	0	0.01441	0	136	259		
NAB2	4665	broad.mit.edu	37	12	57485457	57485457	+	Silent	SNP	T	T	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:57485457T>C	ENST00000300131.3	+	2	1011	c.633T>C	c.(631-633)ccT>ccC	p.P211P	NAB2_ENST00000357680.4_Silent_p.P211P|NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000342556.6_Silent_p.P211P	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	211					cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.P211P(3)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						TCTCCCCCCCTGCAGGGGGAG	0.711																																						uc001smz.2		NaN																	3	Substitution - coding silent(3)		prostate(1)|lung(1)|kidney(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(631-633)CCT>CCC		NGFI-A binding protein 2																																				SO:0001819	synonymous_variant	4665				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	g.chr12:57485457T>C	BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.633T>C	12.37:g.57485457T>C							p.P211P	NM_005967	NP_005958	Q15742	NAB2_HUMAN			2	1011	+			211					B2RAK3|O76006|Q14797	Silent	SNP	ENST00000300131.3	37	c.633T>C	CCDS8930.1																																																																																				0.711	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412222.1		NM_005967		7	28	0	0	0	0.020292	0	7	28		
PTPRB	5787	broad.mit.edu	37	12	70963557	70963557	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:70963557C>G	ENST00000261266.5	-	12	2907	c.2878G>C	c.(2878-2880)Gag>Cag	p.E960Q	PTPRB_ENST00000451516.2_Missense_Mutation_p.E870Q|PTPRB_ENST00000334414.6_Missense_Mutation_p.E1178Q|PTPRB_ENST00000550358.1_Missense_Mutation_p.E1090Q|PTPRB_ENST00000551525.1_Missense_Mutation_p.E1177Q|PTPRB_ENST00000550857.1_Missense_Mutation_p.E870Q|PTPRB_ENST00000538708.1_Missense_Mutation_p.E960Q	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	960	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AACGTGTGCTCAAAGACGTGC	0.542																																						uc001swb.3		NaN																	0				lung(2)|skin(1)	3						c.(2878-2880)GAG>CAG		protein tyrosine phosphatase, receptor type, B							91.0	93.0	92.0					12																	70963557		2114	4232	6346	SO:0001583	missense	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70963557C>G	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.2878G>C	12.37:g.70963557C>G	ENSP00000261266:p.Glu960Gln					PTPRB_uc010sto.1_Missense_Mutation_p.E960Q|PTPRB_uc010stp.1_Missense_Mutation_p.E870Q|PTPRB_uc001swc.3_Missense_Mutation_p.E1178Q|PTPRB_uc001swa.3_Missense_Mutation_p.E1090Q|PTPRB_uc001swd.3_Missense_Mutation_p.E1177Q|PTPRB_uc009zrr.1_Missense_Mutation_p.E1057Q	p.E960Q	NM_002837	NP_002828	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		12	2908	-	Renal(347;0.236)		960			Fibronectin type-III 11.|Extracellular (Potential).		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.2878G>C	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	C	5.670	0.308242	0.10733	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41	5.45	5.45	0.79879	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.106321	0.64402	D	0.000005	T	0.63721	0.2535	M	0.77103	2.36	0.54753	D	0.999984	B;B;B;B;P;B;B	0.35383	0.105;0.053;0.066;0.338;0.498;0.128;0.2	B;B;B;B;B;B;B	0.41917	0.172;0.172;0.37;0.209;0.255;0.264;0.255	T	0.64398	-0.6417	10	0.45353	T	0.12	.	19.6569	0.95845	0.0:1.0:0.0:0.0	.	870;960;1057;1177;1178;960;1090	P23467-2;F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;PTPRB_HUMAN;.	Q	1178;870;1090;960;870;960;1177;1057	ENSP00000334928:E1178Q;ENSP00000393028:E870Q;ENSP00000448058:E1090Q;ENSP00000438927:E960Q;ENSP00000447302:E870Q;ENSP00000261266:E960Q;ENSP00000448349:E1177Q;ENSP00000446982:E1057Q	ENSP00000261266:E960Q	E	-	1	0	PTPRB	69249824	1.000000	0.71417	0.916000	0.36221	0.181000	0.23173	7.219000	0.78000	2.711000	0.92665	0.544000	0.68410	GAG		0.542	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1				19	58	0	0	0	0.012319	0	19	58		
PPP1R12A	4659	broad.mit.edu	37	12	80200075	80200075	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:80200075G>C	ENST00000450142.2	-	13	1960	c.1694C>G	c.(1693-1695)tCt>tGt	p.S565C	AC073569.1_ENST00000598624.1_Intron|PPP1R12A_ENST00000437004.2_Missense_Mutation_p.S565C|PPP1R12A_ENST00000261207.5_Missense_Mutation_p.S565C|PPP1R12A_ENST00000550107.1_Intron|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.S478C	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	565	Ser/Thr-rich.				centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)|regulation of nucleocytoplasmic transport (GO:0046822)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|PTW/PP1 phosphatase complex (GO:0072357)	14-3-3 protein binding (GO:0071889)|enzyme inhibitor activity (GO:0004857)|phosphatase regulator activity (GO:0019208)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						TGGAACACTAGAACTAATCAA	0.388																																						uc001syz.2		NaN																	0				ovary(2)|breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(1693-1695)TCT>TGT		protein phosphatase 1, regulatory (inhibitor)							215.0	215.0	215.0					12																	80200075		1943	4140	6083	SO:0001583	missense	4659					contractile fiber	protein binding|signal transducer activity	g.chr12:80200075G>C	D87930	CCDS44947.1, CCDS44948.1, CCDS58259.1, CCDS58260.1	12q15-q21	2013-01-18	2011-10-04	2001-08-10	ENSG00000058272	ENSG00000058272		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7618	protein-coding gene	gene with protein product	"""myosin phosphatase-targeting subunit 1"", ""myosin binding subunit"""	602021	"""protein phosphatase 1, regulatory (inhibitor) subunit 12A"""	MYPT1		9286714	Standard	NM_002480		Approved	MBS, M130	uc001syz.3	O14974	OTTHUMG00000170100	ENST00000450142.2:c.1694C>G	12.37:g.80200075G>C	ENSP00000389168:p.Ser565Cys					PPP1R12A_uc010suc.1_Missense_Mutation_p.S478C|PPP1R12A_uc001sza.2_Intron|PPP1R12A_uc010sud.1_Missense_Mutation_p.S565C|PPP1R12A_uc001szb.2_Missense_Mutation_p.S565C|PPP1R12A_uc001szc.2_Missense_Mutation_p.S565C	p.S565C	NM_002480	NP_002471	O14974	MYPT1_HUMAN			13	1961	-			565			Ser/Thr-rich.		B4DZ09|F8VWB4|Q2NKL4|Q569H0|Q86WU3|Q8NFR6|Q9BYH0	Missense_Mutation	SNP	ENST00000450142.2	37	c.1694C>G	CCDS44947.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.52|10.52	1.372630|1.372630	0.24857|0.24857	.|.	.|.	ENSG00000058272|ENSG00000058272	ENST00000553081|ENST00000261207;ENST00000546189;ENST00000360825;ENST00000312727;ENST00000450142;ENST00000437004;ENST00000546369;ENST00000547330	.|T;T;T;T;T	.|0.40225	.|1.12;1.12;1.12;1.14;1.04	5.31|5.31	4.4|4.4	0.53042|0.53042	.|.	.|0.217945	.|0.49916	.|N	.|0.000122	T|T	0.38401|0.38401	0.1039|0.1039	L|L	0.45581|0.45581	1.43|1.43	0.38670|0.38670	D|D	0.952299|0.952299	.|B;B;B	.|0.06786	.|0.001;0.0;0.0	.|B;B;B	.|0.06405	.|0.002;0.0;0.0	T|T	0.28996|0.28996	-1.0026|-1.0026	5|10	.|0.48119	.|T	.|0.1	.|.	14.8584|14.8584	0.70359|0.70359	0.0:0.2824:0.7176:0.0|0.0:0.2824:0.7176:0.0	.|.	.|565;565;565	.|F8W8Q6;O14974-2;O14974	.|.;.;MYPT1_HUMAN	V|C	157|565;565;565;565;565;565;478;565	.|ENSP00000261207:S565C;ENSP00000389168:S565C;ENSP00000416769:S565C;ENSP00000449514:S478C;ENSP00000446816:S565C	.|ENSP00000261207:S565C	L|S	-|-	1|2	2|0	PPP1R12A|PPP1R12A	78724206|78724206	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.517000|4.517000	0.60503|0.60503	1.201000|1.201000	0.43203|0.43203	0.591000|0.591000	0.81541|0.81541	CTA|TCT		0.388	PPP1R12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407254.2		NM_002480		50	281	0	0	0	0.01441	0	50	281		
PPFIA2	8499	broad.mit.edu	37	12	81746948	81746948	+	Silent	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:81746948C>G	ENST00000549396.1	-	17	2104	c.1944G>C	c.(1942-1944)acG>acC	p.T648T	PPFIA2_ENST00000550584.2_Silent_p.T648T|PPFIA2_ENST00000407050.4_Silent_p.T574T|PPFIA2_ENST00000548586.1_Silent_p.T648T|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000333447.7_Silent_p.T630T|PPFIA2_ENST00000550359.2_Silent_p.T495T|PPFIA2_ENST00000443686.3_Silent_p.T549T|PPFIA2_ENST00000552948.1_Silent_p.T648T|PPFIA2_ENST00000541570.2_Silent_p.T215T|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549325.1_Silent_p.T630T	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	648					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						TCATGGCTAGCGTCTGGGCAT	0.383																																						uc001szo.1		NaN																	0				ovary(3)|lung(2)|pancreas(1)	6						c.(1942-1944)ACG>ACC		PTPRF interacting protein alpha 2							143.0	137.0	139.0					12																	81746948		1955	4172	6127	SO:0001819	synonymous_variant	8499							g.chr12:81746948C>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.1944G>C	12.37:g.81746948C>G						PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA	p.T648T	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN			17	2105	-			574					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Silent	SNP	ENST00000549396.1	37	c.1944G>C	CCDS55857.1																																																																																				0.383	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1				33	112	0	0	0	0.019004	0	33	112		
IKBIP	121457	broad.mit.edu	37	12	99028127	99028127	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:99028127C>G	ENST00000342502.2	-	2	655	c.244G>C	c.(244-246)Gaa>Caa	p.E82Q	IKBIP_ENST00000420861.1_Intron|IKBIP_ENST00000393042.3_Intron|IKBIP_ENST00000299157.4_Missense_Mutation_p.E82Q	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	82					response to X-ray (GO:0010165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						TCATTGGTTTCTAGTTTCAGT	0.328																																						uc001tfv.2		NaN																	0					0						c.(244-246)GAA>CAA		IKK interacting protein isoform 2							165.0	153.0	157.0					12																	99028127		2203	4300	6503	SO:0001583	missense	121457				induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr12:99028127C>G	AJ539425	CCDS9067.1, CCDS9068.1, CCDS41822.1	12q23.1	2010-02-17			ENSG00000166130	ENSG00000166130			26430	protein-coding gene	gene with protein product	"""I kappa B kinase interacting protein"""	609861				15389287	Standard	NM_153687		Approved	FLJ31051, IKIP	uc001tfx.4	Q70UQ0	OTTHUMG00000170213	ENST00000342502.2:c.244G>C	12.37:g.99028127C>G	ENSP00000343471:p.Glu82Gln					IKBIP_uc001tfw.2_Intron|IKBIP_uc001tfx.2_Missense_Mutation_p.E82Q	p.E82Q	NM_201612	NP_963906	Q70UQ0	IKIP_HUMAN			2	354	-			82					Q6ZWH4|Q70UP9|Q86V91|Q96ND2	Missense_Mutation	SNP	ENST00000342502.2	37	c.244G>C	CCDS9067.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.214332	0.39102	.	.	ENSG00000166130	ENST00000342502;ENST00000299157	T;T	0.53640	0.69;0.61	5.97	4.07	0.47477	.	0.278863	0.36409	N	0.002617	T	0.45397	0.1340	L	0.58101	1.795	0.80722	D	1	P;P	0.45827	0.719;0.867	B;B	0.44085	0.44;0.44	T	0.44483	-0.9325	10	0.49607	T	0.09	-18.0109	8.9785	0.35950	0.0:0.7694:0.0:0.2306	.	82;82	Q70UQ0-4;Q70UQ0	.;IKIP_HUMAN	Q	82	ENSP00000343471:E82Q;ENSP00000299157:E82Q	ENSP00000299157:E82Q	E	-	1	0	IKBIP	97552258	0.996000	0.38824	0.892000	0.35008	0.043000	0.13939	1.351000	0.34022	1.444000	0.47605	-0.345000	0.07892	GAA		0.328	IKBIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000408003.2		NM_153687		9	55	0	0	0	0.004482	0	9	55		
MMAB	326625	broad.mit.edu	37	12	110002954	110002954	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:110002954C>T	ENST00000545712.2	-	4	711	c.318G>A	c.(316-318)aaG>aaA	p.K106K	MMAB_ENST00000540016.1_Silent_p.K54K|MMAB_ENST00000266839.5_Silent_p.K15K|RNU4-32P_ENST00000363404.1_RNA	NM_052845.3	NP_443077.1	Q96EY8	MMAB_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblB type	106					cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|cob(I)yrinic acid a,c-diamide adenosyltransferase activity (GO:0008817)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATGTATGGCCCTTTTCTGTGA	0.463																																						uc001tou.2		NaN																	0					0						c.(316-318)AAG>AAA		cob(I)alamin adenosyltransferase precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						180.0	169.0	172.0					12																	110002954		2203	4300	6503	SO:0001819	synonymous_variant	326625				cobalamin biosynthetic process	mitochondrion	ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity	g.chr12:110002954C>T	AF550404	CCDS9131.1	12q24	2014-07-18	2005-07-11		ENSG00000139428	ENSG00000139428			19331	protein-coding gene	gene with protein product	"""ATP:cob(I)alamin adenosyltransferase"", ""cilia and flagella associated protein 23"""	607568	"""methylmalonic aciduria (cobalamin deficiency) type B"""			12471062, 12514191	Standard	NM_052845		Approved	cblB, CFAP23	uc001tou.3	Q96EY8	OTTHUMG00000169255	ENST00000545712.2:c.318G>A	12.37:g.110002954C>T						MMAB_uc001tov.2_RNA|MMAB_uc001tow.2_RNA|MMAB_uc010sxq.1_Silent_p.K15K|MMAB_uc001tox.2_Silent_p.K54K	p.K106K	NM_052845	NP_443077	Q96EY8	MMAB_HUMAN			4	391	-			106					C5HU05|Q9BSH0	Silent	SNP	ENST00000545712.2	37	c.318G>A	CCDS9131.1																																																																																				0.463	MMAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403128.2				38	120	0	0	0	0.027894	0	38	120		
TBX5	6910	broad.mit.edu	37	12	114793706	114793706	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:114793706G>A	ENST00000310346.4	-	9	1854	c.1188C>T	c.(1186-1188)atC>atT	p.I396I	TBX5_ENST00000405440.2_Silent_p.I396I|TBX5_ENST00000349716.5_Silent_p.I346I	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	396					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TGTTGCAGCTGATGTCCTCTA	0.632																																					NSCLC(152;1358 1980 4050 23898 40356)	uc001tvo.2		NaN																	0				ovary(6)|pancreas(1)|skin(1)	8						c.(1186-1188)ATC>ATT		T-box 5 isoform 1							66.0	57.0	60.0					12																	114793706		2203	4300	6503	SO:0001819	synonymous_variant	6910				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr12:114793706G>A	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.1188C>T	12.37:g.114793706G>A						TBX5_uc001tvp.2_Silent_p.I396I|TBX5_uc001tvq.2_Silent_p.I346I	p.I396I	NM_181486	NP_852259	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	9	1683	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		396					A6ND77|O15301|Q96TB0|Q9Y4I2	Silent	SNP	ENST00000310346.4	37	c.1188C>T	CCDS9173.1																																																																																				0.632	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1		NM_080717		15	72	0	0	0	0.00499	0	15	72		
C12orf49	79794	broad.mit.edu	37	12	117175649	117175649	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:117175649G>A	ENST00000261318.3	-	1	217	c.57C>T	c.(55-57)ctC>ctT	p.L19L	RNFT2_ENST00000257575.4_5'Flank|RNFT2_ENST00000392549.2_5'Flank|RNFT2_ENST00000407967.3_5'Flank|RNFT2_ENST00000319176.7_5'Flank|C12orf49_ENST00000536380.1_Missense_Mutation_p.R42C	NM_024738.1	NP_079014.1	Q9H741	CL049_HUMAN	chromosome 12 open reading frame 49	19						extracellular region (GO:0005576)				endometrium(1)|lung(1)|ovary(1)|skin(1)	4	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0281)		AGACCAGGGCGAGCACCCACC	0.697																																						uc001tvz.1		NaN																	0				ovary(1)	1						c.(55-57)CTC>CTT		hypothetical protein LOC79794 precursor							51.0	36.0	41.0					12																	117175649		2202	4299	6501	SO:0001819	synonymous_variant	79794					extracellular region		g.chr12:117175649G>A	AK025068	CCDS9179.1	12q24.22	2012-05-30			ENSG00000111412	ENSG00000111412			26128	protein-coding gene	gene with protein product						12477932	Standard	NM_024738		Approved	FLJ21415	uc001tvz.1	Q9H741	OTTHUMG00000169392	ENST00000261318.3:c.57C>T	12.37:g.117175649G>A						RNFT2_uc009zwn.2_5'Flank|RNFT2_uc001twb.3_5'Flank|RNFT2_uc001twa.3_5'Flank|C12orf49_uc009zwm.1_Missense_Mutation_p.R42C	p.L19L	NM_024738	NP_079014	Q9H741	CL049_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0281)	1	195	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		19					Q53GE8	Silent	SNP	ENST00000261318.3	37	c.57C>T	CCDS9179.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.117263	0.56505	.	.	ENSG00000111412	ENST00000536380	.	.	.	4.64	1.81	0.25067	.	.	.	.	.	T	0.36717	0.0977	.	.	.	0.31727	N	0.637588	B	0.10296	0.003	B	0.08055	0.003	T	0.38436	-0.9661	7	0.87932	D	0	-19.9525	7.6749	0.28480	0.2629:0.0:0.7371:0.0	.	42	F5H6Y2	.	C	42	.	ENSP00000442947:R42C	R	-	1	0	C12orf49	115660032	0.999000	0.42202	1.000000	0.80357	0.990000	0.78478	0.370000	0.20433	0.201000	0.20466	0.655000	0.94253	CGC		0.697	C12orf49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403847.1		NM_024738		7	30	0	0	0	0.004482	0	7	30		
SBNO1	55206	broad.mit.edu	37	12	123830066	123830066	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:123830066G>T	ENST00000602398.1	-	4	416	c.289C>A	c.(289-291)Cca>Aca	p.P97T	SBNO1_ENST00000267176.4_Missense_Mutation_p.P96T|SBNO1_ENST00000420886.2_Missense_Mutation_p.P97T|SBNO1_ENST00000602750.1_Missense_Mutation_p.P96T			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	97					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CCCAAGGGTGGAAGATGATTT	0.378																																						uc010tap.1		NaN																	0				breast(5)|skin(2)|ovary(1)|kidney(1)	9						c.(289-291)CCA>ACA		sno, strawberry notch homolog 1							172.0	156.0	161.0					12																	123830066		2203	4300	6503	SO:0001583	missense	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123830066G>T	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.289C>A	12.37:g.123830066G>T	ENSP00000473665:p.Pro97Thr					SBNO1_uc010tao.1_Missense_Mutation_p.P96T|SBNO1_uc010taq.1_Intron|SBNO1_uc001uet.2_Missense_Mutation_p.P97T|SBNO1_uc001ueu.2_Missense_Mutation_p.P96T|SBNO1_uc001uev.2_Missense_Mutation_p.P95T|SBNO1_uc009zxy.1_Missense_Mutation_p.P62T	p.P97T	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	3	289	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		97					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	c.289C>A	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.153418	0.57259	.	.	ENSG00000139697	ENST00000420886;ENST00000267176;ENST00000442601	T;T	0.33654	1.41;1.4	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.49643	0.1569	L	0.29908	0.895	0.58432	D	0.999994	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.80764	0.981;0.991;0.994	T	0.39542	-0.9609	10	0.41790	T	0.15	-13.0253	18.1163	0.89556	0.0:0.0:1.0:0.0	.	97;96;95	A3KN83;A3KN83-2;A3KN83-3	SBNO1_HUMAN;.;.	T	97;96;96	ENSP00000387361:P97T;ENSP00000267176:P96T	ENSP00000267176:P96T	P	-	1	0	SBNO1	122396019	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	9.035000	0.93752	2.715000	0.92844	0.655000	0.94253	CCA		0.378	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1		NM_018183		14	69	1	0	1.05317e-09	0.020292	1.10848e-09	14	69		
CHFR	55743	broad.mit.edu	37	12	133420656	133420656	+	Silent	SNP	C	C	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:133420656C>A	ENST00000432561.2	-	16	1909	c.1836G>T	c.(1834-1836)ctG>ctT	p.L612L	CHFR_ENST00000541341.1_Silent_p.L39L|CHFR_ENST00000315585.7_Silent_p.L571L|CHFR_ENST00000443047.2_Silent_p.L520L|CHFR_ENST00000537522.1_Silent_p.L234L|CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000450056.2_Silent_p.L600L|CHFR_ENST00000266880.7_Silent_p.L611L			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	612					mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|modification-dependent protein catabolic process (GO:0019941)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)|PML body (GO:0016605)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		ACTGATAGGTCAGCTCACGGA	0.542																																						uc001ulf.2		NaN																	0				skin(1)	1						c.(1834-1836)CTG>CTT		checkpoint with forkhead and ring finger domains							120.0	97.0	105.0					12																	133420656		2203	4300	6503	SO:0001819	synonymous_variant	55743				cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:133420656C>A	AK001658	CCDS31937.1, CCDS53847.1, CCDS53848.1, CCDS53849.1	12q24.33	2012-02-23	2012-02-23			ENSG00000072609		"""RING-type (C3HC4) zinc fingers"""	20455	protein-coding gene	gene with protein product		605209	"""checkpoint with forkhead and ring finger domains"""			10935642, 11807090	Standard	NM_001161344		Approved	FLJ10796, RNF196	uc001ulf.2	Q96EP1		ENST00000432561.2:c.1836G>T	12.37:g.133420656C>A						CHFR_uc001ulc.1_RNA|CHFR_uc001ule.2_Silent_p.L600L|CHFR_uc010tbs.1_Silent_p.L611L|CHFR_uc001uld.2_Silent_p.L571L|CHFR_uc010tbt.1_Silent_p.L520L	p.L612L	NM_001161344	NP_001154816	Q96EP1	CHFR_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)	16	1920	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)	612					A6NEN5|B4DZ77|B4E2L6|Q96SL3|Q9NRT4|Q9NT32|Q9NVD5	Silent	SNP	ENST00000432561.2	37	c.1836G>T	CCDS53849.1																																																																																				0.542	CHFR-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397130.2				28	31	1	0	1.80694e-10	0.009535	1.9102e-10	28	31		
AMER2	219287	broad.mit.edu	37	13	25744470	25744470	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr13:25744470C>G	ENST00000515384.1	-	1	1955	c.1288G>C	c.(1288-1290)Gag>Cag	p.E430Q	AMER2_ENST00000381853.3_Missense_Mutation_p.E311Q|AMER2_ENST00000357816.2_Missense_Mutation_p.E311Q|AMER2-AS1_ENST00000413501.1_lincRNA			Q8N7J2	AMER2_HUMAN	APC membrane recruitment protein 2	430					ectoderm development (GO:0007398)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)										TCGTCCACCTCGTCCGGGCTG	0.652																																						uc001uqb.2		NaN																	0				ovary(2)|large_intestine(1)|lung(1)	4						c.(1288-1290)GAG>CAG		hypothetical protein LOC219287 isoform 1							33.0	28.0	30.0					13																	25744470		2203	4300	6503	SO:0001583	missense	219287							g.chr13:25744470C>G	AK055049	CCDS9312.1, CCDS53859.1	13q12.13	2013-10-11	2012-12-03	2012-12-03	ENSG00000165566	ENSG00000165566		"""-"""	26360	protein-coding gene	gene with protein product		614659	"""family with sequence similarity 123A"""	FAM123A		20843316	Standard	XM_005266279		Approved	FLJ25477	uc001uqb.3	Q8N7J2	OTTHUMG00000016602	ENST00000515384.1:c.1288G>C	13.37:g.25744470C>G	ENSP00000426528:p.Glu430Gln					FAM123A_uc001uqa.2_Missense_Mutation_p.E311Q|FAM123A_uc001uqc.2_Missense_Mutation_p.E311Q	p.E430Q	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	1388	-		Lung SC(185;0.0225)|Breast(139;0.0602)	430					Q5RL80|Q5VX56|Q8N593|Q96NN5	Missense_Mutation	SNP	ENST00000515384.1	37	c.1288G>C	CCDS53859.1	.	.	.	.	.	.	.	.	.	.	C	7.970	0.748873	0.15710	.	.	ENSG00000165566	ENST00000357816;ENST00000381853;ENST00000515384	T;T;T	0.17213	2.29;2.29;2.29	4.42	2.63	0.31362	.	0.495838	0.22301	N	0.061875	T	0.09598	0.0236	N	0.12569	0.235	0.09310	N	1	B;B	0.14438	0.01;0.004	B;B	0.16722	0.016;0.009	T	0.31364	-0.9946	10	0.12430	T	0.62	-27.2714	14.4343	0.67270	0.0:0.4095:0.5905:0.0	.	430;311	Q8N7J2;Q8N7J2-2	F123A_HUMAN;.	Q	311;311;430	ENSP00000350469:E311Q;ENSP00000371277:E311Q;ENSP00000426528:E430Q	ENSP00000350469:E311Q	E	-	1	0	FAM123A	24642470	0.993000	0.37304	0.425000	0.26659	0.960000	0.62799	2.926000	0.48892	0.445000	0.26639	0.561000	0.74099	GAG		0.652	AMER2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370229.1		NM_152704		9	22	0	0	0	0.006214	0	9	22		
WASF3	10810	broad.mit.edu	37	13	27216530	27216530	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr13:27216530G>A	ENST00000335327.5	+	3	301	c.123G>A	c.(121-123)ctG>ctA	p.L41L	WASF3-AS1_ENST00000585599.1_RNA|WASF3_ENST00000496788.1_3'UTR|WASF3-AS1_ENST00000586418.1_RNA|WASF3-AS1_ENST00000413063.1_RNA|WASF3_ENST00000361042.4_Silent_p.L41L	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	41					actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		TACGCCAGCTGAGCAGTCTGA	0.418																																						uc001uqv.2		NaN																	0				pancreas(1)	1						c.(121-123)CTG>CTA		WAS protein family, member 3							141.0	136.0	138.0					13																	27216530		2203	4300	6503	SO:0001819	synonymous_variant	10810				actin filament polymerization	cytoplasm|cytoskeleton	actin binding	g.chr13:27216530G>A	AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.123G>A	13.37:g.27216530G>A						WASF3_uc001uqw.2_Silent_p.L41L	p.L41L	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)	3	348	+	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)	41					O94974|Q86VQ2	Silent	SNP	ENST00000335327.5	37	c.123G>A	CCDS9318.1																																																																																				0.418	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044258.1				69	140	0	0	0	0.01441	0	69	140		
FLT1	2321	broad.mit.edu	37	13	28880827	28880827	+	Missense_Mutation	SNP	G	G	A	rs368266056		TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr13:28880827G>A	ENST00000282397.4	-	29	4054	c.3803C>T	c.(3802-3804)tCg>tTg	p.S1268L	FLT1_ENST00000543394.1_Missense_Mutation_p.S291L|FLT1_ENST00000540678.1_Missense_Mutation_p.S486L	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1268					blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AATCTTGAGCGAGGCCTTGGG	0.532																																						uc001usb.3		NaN																	0				lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24						c.(3802-3804)TCG>TTG		fms-related tyrosine kinase 1 isoform 1	Sunitinib(DB01268)						92.0	86.0	88.0					13																	28880827		2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:28880827G>A	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.3803C>T	13.37:g.28880827G>A	ENSP00000282397:p.Ser1268Leu					FLT1_uc010aap.2_Missense_Mutation_p.S273L|FLT1_uc010aaq.2_Missense_Mutation_p.S393L|FLT1_uc001usa.3_Missense_Mutation_p.S486L	p.S1268L	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	29	4088	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	1268			Cytoplasmic (Potential).		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.3803C>T	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.849954	0.32699	.	.	ENSG00000102755	ENST00000282397;ENST00000543394;ENST00000540678	T;T;T	0.77358	-0.87;-1.07;-1.09	5.53	3.79	0.43588	.	0.385353	0.25065	N	0.033417	T	0.64778	0.2629	L	0.38175	1.15	0.20489	N	0.999893	B	0.28880	0.226	B	0.20184	0.028	T	0.54814	-0.8237	10	0.34782	T	0.22	.	9.8174	0.40860	0.1642:0.0:0.8358:0.0	.	1268	P17948	VGFR1_HUMAN	L	1268;291;486	ENSP00000282397:S1268L;ENSP00000437841:S291L;ENSP00000443311:S486L	ENSP00000282397:S1268L	S	-	2	0	FLT1	27778827	0.973000	0.33851	0.331000	0.25455	0.179000	0.23085	4.821000	0.62679	1.342000	0.45619	-0.142000	0.14014	TCG		0.532	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1				22	45	0	0	0	0.012319	0	22	45		
DCLK1	9201	broad.mit.edu	37	13	36445432	36445432	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr13:36445432G>A	ENST00000360631.3	-	5	1080	c.869C>T	c.(868-870)tCa>tTa	p.S290L	DCLK1_ENST00000379892.4_Missense_Mutation_p.S290L|DCLK1_ENST00000255448.4_Missense_Mutation_p.S290L			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	290	Pro/Ser-rich.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CCTGCGGGATGATGAAGCTAT	0.507																																						uc001uvf.2		NaN																	0				stomach(6)|ovary(2)|skin(1)	9						c.(868-870)TCA>TTA		doublecortin-like kinase 1							252.0	242.0	245.0					13																	36445432		2203	4300	6503	SO:0001583	missense	9201				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr13:36445432G>A	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.869C>T	13.37:g.36445432G>A	ENSP00000353846:p.Ser290Leu					uc001uvi.1_Intron	p.S290L	NM_004734	NP_004725	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	5	1102	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	290			Pro/Ser-rich.		B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	ENST00000360631.3	37	c.869C>T		.	.	.	.	.	.	.	.	.	.	G	12.01	1.809453	0.31961	.	.	ENSG00000133083	ENST00000255448;ENST00000360631;ENST00000539451;ENST00000379892	T;T;T	0.68181	-0.31;-0.31;1.86	5.28	5.28	0.74379	.	0.408437	0.24438	N	0.038526	T	0.47600	0.1454	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.34477	-0.9827	10	0.46703	T	0.11	.	9.4563	0.38756	0.0786:0.1559:0.7655:0.0	.	290	O15075-2	.	L	290	ENSP00000255448:S290L;ENSP00000353846:S290L;ENSP00000369222:S290L	ENSP00000255448:S290L	S	-	2	0	DCLK1	35343432	0.710000	0.27896	0.525000	0.27900	0.915000	0.54546	2.692000	0.47018	2.617000	0.88574	0.655000	0.94253	TCA		0.507	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1		NM_004734		75	106	0	0	0	0.01441	0	75	106		
ENOX1	55068	broad.mit.edu	37	13	43872592	43872592	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr13:43872592C>T	ENST00000261488.6	-	12	1913	c.1336G>A	c.(1336-1338)Gag>Aag	p.E446K	ENOX1_ENST00000412891.1_Missense_Mutation_p.E446K	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	446					rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		AGCTCCACCTCATTCCTGTAG	0.522																																						uc001uza.3		NaN																	0				pancreas(1)|skin(1)	2						c.(1336-1338)GAG>AAG		ecto-NOX disulfide-thiol exchanger 1							163.0	142.0	149.0					13																	43872592		2203	4300	6503	SO:0001583	missense	55068				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	g.chr13:43872592C>T	EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"""RNA binding motif (RRM) containing"""	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.1336G>A	13.37:g.43872592C>T	ENSP00000261488:p.Glu446Lys					ENOX1_uc001uzb.3_Missense_Mutation_p.E446K|ENOX1_uc001uzc.3_Missense_Mutation_p.E446K|ENOX1_uc001uyz.3_Missense_Mutation_p.E55K	p.E446K	NM_001127615	NP_001121087	Q8TC92	ENOX1_HUMAN		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)	12	1636	-		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)	446			Potential.		A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Missense_Mutation	SNP	ENST00000261488.6	37	c.1336G>A	CCDS9389.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.907950	0.92107	.	.	ENSG00000120658	ENST00000261488;ENST00000412891	T;T	0.58060	0.36;0.36	5.64	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.72447	0.3461	M	0.76574	2.34	0.80722	D	1	D	0.63880	0.993	D	0.72625	0.978	T	0.76580	-0.2907	10	0.66056	D	0.02	-12.776	16.557	0.84487	0.0:0.8694:0.1306:0.0	.	446	Q8TC92	ENOX1_HUMAN	K	446	ENSP00000261488:E446K;ENSP00000415054:E446K	ENSP00000261488:E446K	E	-	1	0	ENOX1	42770592	1.000000	0.71417	0.904000	0.35570	0.989000	0.77384	5.771000	0.68881	1.373000	0.46208	0.655000	0.94253	GAG		0.522	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044717.2		NM_017993		13	151	0	0	0	0.016723	0	13	151		
ZC3H13	23091	broad.mit.edu	37	13	46543642	46543642	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr13:46543642C>T	ENST00000242848.4	-	14	3385	c.3037G>A	c.(3037-3039)Gat>Aat	p.D1013N	ZC3H13_ENST00000282007.3_Missense_Mutation_p.D1013N|ZC3H13_ENST00000378921.2_5'UTR			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1013	Lys-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		ATATCAGAATCACCTTTGGAT	0.373																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	uc010tfw.1		NaN																	0				ovary(1)|lung(1)	2						c.(3037-3039)GAT>AAT		zinc finger CCCH-type containing 13							104.0	103.0	103.0					13																	46543642		2203	4300	6503	SO:0001583	missense	23091						nucleic acid binding|zinc ion binding	g.chr13:46543642C>T	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.3037G>A	13.37:g.46543642C>T	ENSP00000242848:p.Asp1013Asn					ZC3H13_uc001vaq.2_5'Flank|ZC3H13_uc001vas.1_Missense_Mutation_p.D1013N|ZC3H13_uc001vat.1_Missense_Mutation_p.D1013N	p.D1013N	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	13	3043	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	1013			Lys-rich.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37	c.3037G>A		.	.	.	.	.	.	.	.	.	.	C	15.65	2.896711	0.52121	.	.	ENSG00000123200	ENST00000242848;ENST00000282007	T;T	0.38887	2.13;1.11	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000003	T	0.64170	0.2574	M	0.63428	1.95	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.69479	0.922;0.964	T	0.61898	-0.6968	10	0.59425	D	0.04	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	1013;1013	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	N	1013	ENSP00000242848:D1013N;ENSP00000282007:D1013N	ENSP00000242848:D1013N	D	-	1	0	ZC3H13	45441643	0.954000	0.32549	1.000000	0.80357	0.995000	0.86356	7.252000	0.78309	2.941000	0.99782	0.655000	0.94253	GAT		0.373	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1		NM_015070		10	64	0	0	0	0.008291	0	10	64		
UCHL3	7347	broad.mit.edu	37	13	76124114	76124114	+	Silent	SNP	C	C	T	rs569027565		TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr13:76124114C>T	ENST00000377595.3	+	2	75	c.45C>T	c.(43-45)gtC>gtT	p.V15V	RP11-29G8.3_ENST00000563635.1_RNA|COMMD6_ENST00000460675.1_5'Flank	NM_001270952.1|NM_006002.4	NP_001257881.1|NP_005993.1	P15374	UCHL3_HUMAN	ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)	15					protein catabolic process (GO:0030163)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			kidney(1)|large_intestine(2)|lung(3)|skin(1)	7				GBM - Glioblastoma multiforme(99;0.0125)		GTTTTCAGGTCACCAACCAGG	0.622											OREG0022446	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0	0.0014	5008	,	,		15763	0.0		0.0	False		,,,				2504	0.0					uc001vjq.2		NaN																	0					0						c.(43-45)GTC>GTT		ubiquitin carboxyl-terminal esterase L3							189.0	189.0	189.0					13																	76124114		2203	4300	6503	SO:0001819	synonymous_variant	7347				ubiquitin-dependent protein catabolic process	cytoplasm	cysteine-type peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity	g.chr13:76124114C>T	M30496	CCDS9453.1, CCDS73586.1	13q21.33	2008-02-05			ENSG00000118939	ENSG00000118939	3.2.1.15		12515	protein-coding gene	gene with protein product		603090				2530630	Standard	NM_001270952		Approved		uc001vjq.4	P15374	OTTHUMG00000017090	ENST00000377595.3:c.45C>T	13.37:g.76124114C>T			OREG0022446	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1165		p.V15V	NM_006002	NP_005993	P15374	UCHL3_HUMAN		GBM - Glioblastoma multiforme(99;0.0125)	2	75	+			15					B2R970|Q5TBK8|Q6IBE9	Silent	SNP	ENST00000377595.3	37	c.45C>T	CCDS9453.1																																																																																				0.622	UCHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045292.2		NM_006002		84	119	0	0	0	0.01441	0	84	119		
SLITRK1	114798	broad.mit.edu	37	13	84453946	84453946	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr13:84453946C>T	ENST00000377084.2	-	1	2582	c.1697G>A	c.(1696-1698)aGa>aAa	p.R566K		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	566	LRRCT 2.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GAAATCCTTTCTAAAGAAGTT	0.517																																						uc001vlk.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(1696-1698)AGA>AAA		slit and trk like 1 protein precursor							68.0	60.0	63.0					13																	84453946		2203	4300	6503	SO:0001583	missense	114798					integral to membrane		g.chr13:84453946C>T	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1697G>A	13.37:g.84453946C>T	ENSP00000366288:p.Arg566Lys						p.R566K	NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	2583	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	566			LRRCT 2.|Extracellular (Potential).		Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	c.1697G>A	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	C	0.575	-0.839592	0.02692	.	.	ENSG00000178235	ENST00000377084	T	0.51817	0.69	5.22	4.35	0.52113	Cysteine-rich flanking region, C-terminal (1);	0.164538	0.51477	D	0.000086	T	0.17746	0.0426	N	0.01109	-1.01	0.26099	N	0.980846	B	0.02656	0.0	B	0.01281	0.0	T	0.12218	-1.0556	10	0.19590	T	0.45	-8.5681	11.0124	0.47669	0.0:0.8615:0.0:0.1385	.	566	Q96PX8	SLIK1_HUMAN	K	566	ENSP00000366288:R566K	ENSP00000366288:R566K	R	-	2	0	SLITRK1	83351947	0.817000	0.29147	0.985000	0.45067	0.999000	0.98932	2.312000	0.43726	2.603000	0.88011	0.655000	0.94253	AGA		0.517	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1		NM_052910		8	41	0	0	0	0.004482	0	8	41		
MYO16	23026	broad.mit.edu	37	13	109777464	109777464	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr13:109777464C>G	ENST00000357550.2	+	29	3515	c.3474C>G	c.(3472-3474)atC>atG	p.I1158M	MYO16_ENST00000457511.2_Missense_Mutation_p.I670M|MYO16_ENST00000356711.2_Missense_Mutation_p.I1158M	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TAAAAGTTATCAGAGGATTTT	0.383																																						uc001vqt.1		NaN																	0				ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10						c.(3472-3474)ATC>ATG		myosin heavy chain Myr 8							47.0	48.0	47.0					13																	109777464		2203	4300	6503	SO:0001583	missense	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109777464C>G		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.3474C>G	13.37:g.109777464C>G	ENSP00000350160:p.Ile1158Met					MYO16_uc010agk.1_Missense_Mutation_p.I1180M|MYO16_uc010tjh.1_Missense_Mutation_p.I670M	p.I1158M	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		30	3600	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		1158			IQ.			Missense_Mutation	SNP	ENST00000357550.2	37	c.3474C>G	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	C	8.582	0.882454	0.17467	.	.	ENSG00000041515	ENST00000356711;ENST00000357550;ENST00000457511	D;D;D	0.95482	-3.72;-3.72;-3.72	5.75	-1.23	0.09465	.	0.382141	0.19212	U	0.119910	D	0.88551	0.6467	N	0.12182	0.205	0.29779	N	0.83413	B;B	0.28233	0.204;0.061	B;B	0.33521	0.165;0.033	T	0.78645	-0.2123	9	.	.	.	.	12.6409	0.56709	0.3254:0.6101:0.0644:0.0	.	670;1158	F8W883;Q9Y6X6	.;MYO16_HUMAN	M	1158;1158;670	ENSP00000349145:I1158M;ENSP00000350160:I1158M;ENSP00000401633:I670M	.	I	+	3	3	MYO16	108575465	0.531000	0.26338	0.679000	0.29978	0.962000	0.63368	-0.251000	0.08818	-0.426000	0.07360	0.655000	0.94253	ATC		0.383	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1		NM_015011		17	45	0	0	0	0.007413	0	17	45		
MCF2L	23263	broad.mit.edu	37	13	113718683	113718683	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr13:113718683C>A	ENST00000375608.3	+	7	703	c.645C>A	c.(643-645)gaC>gaA	p.D215E	MCF2L_ENST00000397030.1_Missense_Mutation_p.D218E|MCF2L_ENST00000442652.2_Missense_Mutation_p.D215E|MCF2L_ENST00000434480.2_Missense_Mutation_p.D191E|MCF2L_ENST00000375597.4_Missense_Mutation_p.D183E|MCF2L_ENST00000375604.2_Missense_Mutation_p.D242E|MCF2L_ENST00000421756.1_Missense_Mutation_p.D189E|MCF2L_ENST00000375601.3_Missense_Mutation_p.D189E|MCF2L_ENST00000423482.2_Missense_Mutation_p.D183E|MCF2L_ENST00000535094.2_Missense_Mutation_p.D185E			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	215	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				TGACCGAGGACCTGGGTGGGA	0.612																																						uc001vsu.2		NaN																	0				ovary(1)|kidney(1)	2						c.(724-726)GAC>GAA		MCF.2 cell line derived transforming							97.0	78.0	84.0					13																	113718683		2203	4300	6503	SO:0001583	missense	23263				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr13:113718683C>A	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.645C>A	13.37:g.113718683C>A	ENSP00000364758:p.Asp215Glu					MCF2L_uc001vsq.2_Missense_Mutation_p.D242E|MCF2L_uc010tjr.1_Missense_Mutation_p.D185E|MCF2L_uc001vsr.2_Missense_Mutation_p.D189E|MCF2L_uc001vss.3_Missense_Mutation_p.D183E|MCF2L_uc010tjs.1_Missense_Mutation_p.D183E|MCF2L_uc001vst.1_Missense_Mutation_p.D147E	p.D242E	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN			6	748	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)	215			CRAL-TRIO.		A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	ENST00000375608.3	37	c.726C>A		.	.	.	.	.	.	.	.	.	.	C	2.101	-0.406141	0.04832	.	.	ENSG00000126217	ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000430480;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000375597;ENST00000423251;ENST00000440749	T;T;T;T;T;T;T;T;T;T;T	0.12255	2.7;2.7;2.7;2.7;2.7;2.7;2.7;2.7;2.7;2.7;2.7	5.02	2.82	0.32997	Cellular retinaldehyde-binding/triple function, C-terminal (3);	0.104691	0.64402	D	0.000005	T	0.05731	0.0150	N	0.12569	0.235	0.30232	N	0.795787	B;B;B;B;B;B	0.18013	0.02;0.02;0.02;0.025;0.008;0.025	B;B;B;B;B;B	0.26969	0.028;0.028;0.028;0.047;0.075;0.047	T	0.38457	-0.9660	10	0.02654	T	1	.	6.1313	0.20207	0.0:0.5627:0.0:0.4373	.	183;185;242;147;183;215	E9PDN8;O15068-9;G5E9A1;E2QRA2;O15068-4;O15068	.;.;.;.;.;MCF2L_HUMAN	E	215;215;242;218;185;185;189;189;191;183;183;105;26	ENSP00000364758:D215E;ENSP00000401422:D215E;ENSP00000364754:D242E;ENSP00000380225:D218E;ENSP00000440374:D185E;ENSP00000397285:D189E;ENSP00000364751:D189E;ENSP00000407722:D191E;ENSP00000405639:D183E;ENSP00000364747:D183E;ENSP00000405996:D105E	ENSP00000364747:D183E	D	+	3	2	MCF2L	112766684	0.271000	0.24162	1.000000	0.80357	0.499000	0.33736	-0.482000	0.06544	1.051000	0.40369	0.555000	0.69702	GAC		0.612	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4				9	73	1	0	0.00621372	0.006214	0.00627899	9	73		
CMTM5	116173	broad.mit.edu	37	14	23846484	23846484	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr14:23846484G>A	ENST00000339180.4	+	1	240	c.24G>A	c.(22-24)cgG>cgA	p.R8R	CMTM5_ENST00000555731.1_Silent_p.R8R|CMTM5_ENST00000359320.3_Silent_p.R8R|CMTM5_ENST00000397227.3_Silent_p.R8R|CMTM5_ENST00000342473.4_Silent_p.R8R|CMTM5_ENST00000382809.2_Silent_p.R8R			Q96DZ9	CKLF5_HUMAN	CKLF-like MARVEL transmembrane domain containing 5	8					chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		GAGATCGCCGGGACCGGCACC	0.612																																						uc010akm.2		NaN																	0					0						c.(22-24)CGG>CGA		chemokine-like factor superfamily 5 isoform a							72.0	77.0	75.0					14																	23846484		2203	4300	6503	SO:0001819	synonymous_variant	116173				chemotaxis	extracellular space|integral to membrane	cytokine activity	g.chr14:23846484G>A	BC013109	CCDS9598.1, CCDS32050.1, CCDS73617.1, CCDS73618.1, CCDS73619.1	14q11.2	2005-11-08	2005-11-08	2005-11-08	ENSG00000166091	ENSG00000166091			19176	protein-coding gene	gene with protein product		607888	"""chemokine-like factor super family 5"", ""chemokine-like factor superfamily 5"""	CKLFSF5			Standard	NM_138460		Approved	FLJ37521	uc001wjs.3	Q96DZ9	OTTHUMG00000028751	ENST00000339180.4:c.24G>A	14.37:g.23846484G>A						CMTM5_uc001wjs.2_Silent_p.R8R|CMTM5_uc001wjt.2_Silent_p.R8R|CMTM5_uc010akn.2_Silent_p.R8R|CMTM5_uc001wju.2_Silent_p.R8R|CMTM5_uc010ako.2_RNA	p.R8R	NM_138460	NP_612469	Q96DZ9	CKLF5_HUMAN		GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)	1	468	+	all_cancers(95;2e-05)		8					E9PH91|Q5PY48	Silent	SNP	ENST00000339180.4	37	c.24G>A																																																																																					0.612	CMTM5-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000133708.2				9	54	0	0	0	0.008291	0	9	54		
IRF9	10379	broad.mit.edu	37	14	24635333	24635333	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr14:24635333G>A	ENST00000396864.3	+	9	1397	c.1110G>A	c.(1108-1110)atG>atA	p.M370I	IRF9_ENST00000557894.1_Missense_Mutation_p.G311R|RP11-468E2.4_ENST00000558468.1_3'UTR	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	370					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		CAATACAGATGGAGCAGGCCT	0.592																																						uc001wmq.2		NaN																	0				ovary(1)	1						c.(1108-1110)ATG>ATA		interferon-stimulated transcription factor 3,							59.0	56.0	57.0					14																	24635333		2203	4300	6503	SO:0001583	missense	10379				interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity	g.chr14:24635333G>A	M87503	CCDS9615.1	14q11.2	2007-07-06	2007-07-06	2007-07-06	ENSG00000213928	ENSG00000213928			6131	protein-coding gene	gene with protein product		147574	"""interferon-stimulated transcription factor 3, gamma (48kD)"", ""interferon-stimulated transcription factor 3, gamma 48kDa"""	ISGF3G		1630447, 10199920	Standard	NM_006084		Approved		uc001wmq.3	Q00978	OTTHUMG00000028799	ENST00000396864.3:c.1110G>A	14.37:g.24635333G>A	ENSP00000380073:p.Met370Ile					RNF31_uc001wmp.2_RNA|IRF9_uc010alj.2_Missense_Mutation_p.M154I	p.M370I	NM_006084	NP_006075	Q00978	IRF9_HUMAN		GBM - Glioblastoma multiforme(265;0.00853)	9	1237	+			370					D3DS61	Missense_Mutation	SNP	ENST00000396864.3	37	c.1110G>A	CCDS9615.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.940196	0.34283	.	.	ENSG00000213928	ENST00000396864;ENST00000324076	D;D	0.92647	-3.08;-3.08	5.02	4.13	0.48395	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.322809	0.22148	U	0.063949	D	0.86360	0.5914	L	0.37897	1.145	0.28714	N	0.903375	B	0.24882	0.113	B	0.27262	0.078	T	0.74396	-0.3679	10	0.13853	T	0.58	-23.8107	11.2545	0.49045	0.0885:0.0:0.9115:0.0	.	370	Q00978	IRF9_HUMAN	I	370;186	ENSP00000380073:M370I;ENSP00000313529:M186I	ENSP00000313529:M186I	M	+	3	0	IRF9	23705173	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	4.667000	0.61561	1.346000	0.45694	-0.258000	0.10820	ATG		0.592	IRF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071927.2				13	23	0	0	0	0.020292	0	13	23		
NYNRIN	57523	broad.mit.edu	37	14	24878489	24878489	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr14:24878489G>A	ENST00000382554.3	+	4	1807	c.1489G>A	c.(1489-1491)Gat>Aat	p.D497N		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	497					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TGAGCCGGGGGATCAAGGGAG	0.572																																						uc001wpf.3		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1489-1491)GAT>AAT		hypothetical protein LOC57523							42.0	44.0	43.0					14																	24878489		1901	4109	6010	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24878489G>A	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.1489G>A	14.37:g.24878489G>A	ENSP00000371994:p.Asp497Asn						p.D497N	NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN			4	1807	+			497					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.1489G>A	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.848834	0.32699	.	.	ENSG00000205978	ENST00000382554	T	0.12984	2.63	4.79	-0.156	0.13391	.	.	.	.	.	T	0.08492	0.0211	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33854	-0.9852	9	0.87932	D	0	.	3.6941	0.08357	0.3545:0.0:0.4809:0.1646	.	497	Q9P2P1	NYNRI_HUMAN	N	497	ENSP00000371994:D497N	ENSP00000371994:D497N	D	+	1	0	NYNRIN	23948329	0.688000	0.27680	0.002000	0.10522	0.017000	0.09413	1.285000	0.33261	-0.027000	0.13873	-0.150000	0.13652	GAT		0.572	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1				9	37	0	0	0	0.008291	0	9	37		
PCNX	22990	broad.mit.edu	37	14	71374675	71374675	+	Silent	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr14:71374675C>G	ENST00000304743.2	+	1	554	c.108C>G	c.(106-108)ctC>ctG	p.L36L	PCNX_ENST00000238570.5_Silent_p.L36L|PCNX_ENST00000439984.3_Silent_p.L36L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	36						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CGCTGCACCTCTACCTGTGGC	0.687																																						uc001xmo.2		NaN																	0				ovary(1)	1						c.(106-108)CTC>CTG		pecanex-like 1							66.0	45.0	52.0					14																	71374675		2202	4300	6502	SO:0001819	synonymous_variant	22990					integral to membrane		g.chr14:71374675C>G	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.108C>G	14.37:g.71374675C>G						PCNX_uc001xmn.3_Silent_p.L36L|PCNX_uc010are.1_Silent_p.L36L	p.L36L	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	1	554	+			36			Helical; (Potential).		B2RTR6|O94897|Q96AI7|Q9Y2J9	Silent	SNP	ENST00000304743.2	37	c.108C>G	CCDS9806.1																																																																																				0.687	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1		NM_014982		6	12	0	0	0	0.004482	0	6	12		
HEATR4	399671	broad.mit.edu	37	14	73967257	73967257	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr14:73967257C>G	ENST00000553558.1	-	12	2604	c.2283G>C	c.(2281-2283)aaG>aaC	p.K761N	HEATR4_ENST00000334988.2_Missense_Mutation_p.K761N|HEATR4_ENST00000560393.1_Missense_Mutation_p.K714N	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	761										breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		GACTCACCATCTTGTCGCGGA	0.532																																						uc010tub.1		NaN																	0				ovary(1)	1						c.(2281-2283)AAG>AAC		HEAT repeat containing 4							75.0	73.0	74.0					14																	73967257		2203	4300	6503	SO:0001583	missense	399671							g.chr14:73967257C>G	BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.2283G>C	14.37:g.73967257C>G	ENSP00000450444:p.Lys761Asn					HEATR4_uc010tua.1_Missense_Mutation_p.K714N	p.K761N	NM_203309	NP_976054				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)	12	2605	-								B7Z7V9|E9KL41	Missense_Mutation	SNP	ENST00000553558.1	37	c.2283G>C	CCDS9815.2	.	.	.	.	.	.	.	.	.	.	C	10.19	1.281167	0.23392	.	.	ENSG00000187105	ENST00000553558;ENST00000334988	T	0.17528	2.27	5.33	0.796	0.18648	Armadillo-like helical (1);Armadillo-type fold (1);	0.945961	0.08811	N	0.890222	T	0.05273	0.0140	N	0.02539	-0.55	0.09310	N	0.999991	B	0.12630	0.006	B	0.08055	0.003	T	0.40534	-0.9558	10	0.22706	T	0.39	-2.8767	1.0272	0.01530	0.2587:0.317:0.2535:0.1709	.	761	Q86WZ0	HEAT4_HUMAN	N	761;714	ENSP00000450444:K761N	ENSP00000335447:K714N	K	-	3	2	HEATR4	73037010	0.006000	0.16342	0.577000	0.28562	0.978000	0.69477	-0.873000	0.04214	0.283000	0.22279	0.542000	0.68232	AAG		0.532	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414422.2		NM_203309		41	35	0	0	0	0.013114	0	41	35		
CCDC176	80127	broad.mit.edu	37	14	74523874	74523874	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr14:74523874C>T	ENST00000394009.3	+	11	1614	c.1491C>T	c.(1489-1491)atC>atT	p.I497I	ALDH6A1_ENST00000553458.1_3'UTR|AC005484.5_ENST00000492026.1_RNA|CCDC176_ENST00000553773.1_Silent_p.I222I|CCDC176_ENST00000492247.2_Silent_p.I41I	NM_025057.2	NP_079333.2	Q8ND07	BBOF1_HUMAN	coiled-coil domain containing 176	497					motile cilium assembly (GO:0044458)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)											AAGATAAAATCTTCATCACCC	0.398																																						uc010tup.1		NaN																	0					0						c.(1489-1491)ATC>ATT		hypothetical protein LOC80127							78.0	78.0	78.0					14																	74523874		2203	4300	6503	SO:0001819	synonymous_variant	80127							g.chr14:74523874C>T	BI457605	CCDS32119.2	14q24.3	2013-01-04	2012-09-25	2012-09-25	ENSG00000119636	ENSG00000119636			19855	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 45"""	C14orf45			Standard	NM_025057		Approved		uc010tup.2	Q8ND07	OTTHUMG00000152786	ENST00000394009.3:c.1491C>T	14.37:g.74523874C>T						C14orf45_uc001xpm.1_RNA	p.I497I	NM_025057	NP_079333	Q8ND07	CN045_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00351)	11	1614	+			497					Q0P604|Q9H5P8	Silent	SNP	ENST00000394009.3	37	c.1491C>T	CCDS32119.2																																																																																				0.398	CCDC176-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327863.1		NM_025057		22	77	0	0	0	0.007291	0	22	77		
DICER1	23405	broad.mit.edu	37	14	95569761	95569761	+	Silent	SNP	C	C	T	rs45562437	byFrequency	TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr14:95569761C>T	ENST00000526495.1	-	23	4263	c.3972G>A	c.(3970-3972)aaG>aaA	p.K1324K	DICER1_ENST00000541352.1_Silent_p.K1324K|DICER1_ENST00000393063.1_Silent_p.K1324K|DICER1_ENST00000527414.1_Silent_p.K1324K|DICER1_ENST00000556045.1_Silent_p.K222K|DICER1_ENST00000343455.3_Silent_p.K1324K			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1324	RNase III 1. {ECO:0000255|PROSITE- ProRule:PRU00177}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)	p.K1324K(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TGATGGCATGCTTTAAAAAGG	0.428			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				C|||	3	0.000599042	0.0	0.0	5008	,	,		19246	0.0		0.0	False		,,,				2504	0.0031					uc001ydw.2		NaN	yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	Mis F|N	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma			1	Substitution - coding silent(1)		endometrium(1)	skin(2)|ovary(1)|pancreas(1)|lung(1)	5						c.(3970-3972)AAG>AAA		dicer1		C	,,	3,4403	6.2+/-15.9	0,3,2200	63.0	67.0	66.0		3972,3972,3972	5.3	1.0	14	dbSNP_127	66	23,8577	15.3+/-51.7	0,23,4277	no	coding-synonymous,coding-synonymous,coding-synonymous	DICER1	NM_001195573.1,NM_030621.3,NM_177438.2	,,	0,26,6477	TT,TC,CC		0.2674,0.0681,0.1999	,,	1324/1830,1324/1923,1324/1923	95569761	26,12980	2203	4300	6503	SO:0001819	synonymous_variant	23405	DICER_1_syndrome_|Familial_Multinodular_Goiter_	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95569761C>T	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.3972G>A	14.37:g.95569761C>T						DICER1_uc010avh.1_Silent_p.K222K|DICER1_uc001ydv.2_Silent_p.K1314K|DICER1_uc001ydx.2_Silent_p.K1324K|DICER1_uc001ydy.1_Silent_p.K176K	p.K1324K	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	22	4154	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	1324			RNase III 1.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Silent	SNP	ENST00000526495.1	37	c.3972G>A	CCDS9931.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	8.616	0.890233	0.17613	6.81E-4	0.002674	ENSG00000100697	ENST00000532939	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	T	0.64438	0.2598	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62483	-0.6845	4	.	.	.	-23.3933	12.3726	0.55263	0.0:0.9225:0.0:0.0775	rs45562437	.	.	.	T	3	.	.	A	-	1	0	DICER1	94639514	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	3.137000	0.50562	2.495000	0.84180	0.491000	0.48974	GCA		0.428	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1				4	63	0	0	0	0.014758	0	4	63		
UBE3A	7337	broad.mit.edu	37	15	25585264	25585264	+	Missense_Mutation	SNP	C	C	T	rs587781238		TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr15:25585264C>T	ENST00000397954.2	-	10	2474	c.2475G>A	c.(2473-2475)atG>atA	p.M825I	UBE3A_ENST00000566215.1_Missense_Mutation_p.M802I|UBE3A_ENST00000438097.1_Missense_Mutation_p.M802I|UBE3A_ENST00000428984.2_Missense_Mutation_p.M802I|SNHG14_ENST00000554726.1_RNA|SNHG14_ENST00000452731.1_RNA|UBE3A_ENST00000232165.3_Missense_Mutation_p.M822I			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	825	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		TGGCTATAATCATCTTTAATT	0.393																																						uc001zaq.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3						c.(2473-2475)ATG>ATA		ubiquitin protein ligase E3A isoform 2							136.0	126.0	130.0					15																	25585264		2203	4300	6503	SO:0001583	missense	7337				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr15:25585264C>T	AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"""Angelman syndrome"""	601623	"""human papilloma virus E6-associated protein"""	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.2475G>A	15.37:g.25585264C>T	ENSP00000381045:p.Met825Ile					uc001zae.2_Intron|UBE3A_uc001zar.2_Missense_Mutation_p.M802I|UBE3A_uc001zas.2_Missense_Mutation_p.M822I|UBE3A_uc001zat.2_Missense_Mutation_p.M802I	p.M825I	NM_000462	NP_000453	Q05086	UBE3A_HUMAN		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)	10	2475	-		all_cancers(20;3.47e-21)|Breast(32;0.00123)	825			HECT.		A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Missense_Mutation	SNP	ENST00000397954.2	37	c.2475G>A	CCDS45192.1	.	.	.	.	.	.	.	.	.	.	C	34	5.367671	0.95900	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	5.51	5.51	0.81932	HECT (4);	0.000000	0.85682	D	0.000000	T	0.40932	0.1137	N	0.11023	0.085	0.80722	D	1	P;D	0.55605	0.814;0.972	B;P	0.55260	0.376;0.772	T	0.18524	-1.0334	10	0.02654	T	1	.	19.415	0.94690	0.0:1.0:0.0:0.0	.	822;825	Q05086-3;Q05086	.;UBE3A_HUMAN	I	822;822;825;802;802	ENSP00000232165:M822I;ENSP00000381045:M825I;ENSP00000411258:M802I;ENSP00000401265:M802I	ENSP00000232165:M822I	M	-	3	0	UBE3A	23136357	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.569000	0.86673	0.591000	0.81541	ATG		0.393	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1		NM_000462		22	88	0	0	0	0.014323	0	22	88		
RYR3	6263	broad.mit.edu	37	15	33927868	33927868	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr15:33927868G>A	ENST00000389232.4	+	26	3299	c.3229G>A	c.(3229-3231)Gag>Aag	p.E1077K	RYR3_ENST00000415757.3_Missense_Mutation_p.E1077K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1077	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTTCCGGGTAGAGCGATCTTA	0.522																																						uc001zhi.2		NaN																	0				ovary(5)|central_nervous_system(4)|lung(1)	10						c.(3229-3231)GAG>AAG		ryanodine receptor 3							70.0	71.0	71.0					15																	33927868		2063	4235	6298	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33927868G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.3229G>A	15.37:g.33927868G>A	ENSP00000373884:p.Glu1077Lys					RYR3_uc010bar.2_Missense_Mutation_p.E1077K	p.E1077K	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	26	3299	+		all_lung(180;7.18e-09)	1077			B30.2/SPRY 2.|Cytoplasmic (By similarity).|4 X approximate repeats.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.3229G>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	31	5.077500	0.94000	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.96774	-4.12;-4.12	5.32	4.38	0.52667	B30.2/SPRY domain (1);	0.059648	0.64402	D	0.000003	D	0.95680	0.8595	M	0.84326	2.69	0.80722	D	1	P;P	0.45531	0.86;0.78	B;B	0.38264	0.269;0.138	D	0.95546	0.8616	10	0.62326	D	0.03	.	15.9035	0.79400	0.0:0.1355:0.8645:0.0	.	1077;1077	Q15413-2;Q15413	.;RYR3_HUMAN	K	1077	ENSP00000373884:E1077K;ENSP00000399610:E1077K	ENSP00000354735:E1077K	E	+	1	0	RYR3	31715160	1.000000	0.71417	0.995000	0.50966	0.967000	0.64934	7.664000	0.83830	1.430000	0.47334	0.655000	0.94253	GAG		0.522	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1				14	31	0	0	0	0.004007	0	14	31		
ITPKA	3706	broad.mit.edu	37	15	41793928	41793928	+	Missense_Mutation	SNP	C	C	T	rs569555910	byFrequency	TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr15:41793928C>T	ENST00000260386.5	+	3	735	c.682C>T	c.(682-684)Cgc>Tgc	p.R228C		NM_002220.2	NP_002211.1	P23677	IP3KA_HUMAN	inositol-trisphosphate 3-kinase A	228					actin cytoskeleton organization (GO:0030036)|dendritic spine maintenance (GO:0097062)|inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|positive regulation of dendritic spine morphogenesis (GO:0061003)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendritic spine (GO:0043197)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			kidney(1)|lung(3)|skin(1)	5		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;7.63e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		TGACGCGCTGCGCGGCTGCGT	0.682													C|||	3	0.000599042	0.0	0.0	5008	,	,		9991	0.003		0.0	False		,,,				2504	0.0					uc001znz.2		NaN																	0					0						c.(682-684)CGC>TGC		1D-myo-inositol-trisphosphate 3-kinase A							22.0	23.0	23.0					15																	41793928		2201	4297	6498	SO:0001583	missense	3706				signal transduction		ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr15:41793928C>T	X54938	CCDS10076.1	15q15.1	2011-04-28	2011-04-28		ENSG00000137825	ENSG00000137825	2.7.1.127		6178	protein-coding gene	gene with protein product		147521	"""inositol 1,4,5-trisphosphate 3-kinase A"""			1330886, 2175886	Standard	NM_002220		Approved	IP3KA, IP3-3KA	uc001znz.3	P23677	OTTHUMG00000130343	ENST00000260386.5:c.682C>T	15.37:g.41793928C>T	ENSP00000260386:p.Arg228Cys						p.R228C	NM_002220	NP_002211	P23677	IP3KA_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;7.63e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)	3	693	+		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)	228					Q8TAN3	Missense_Mutation	SNP	ENST00000260386.5	37	c.682C>T	CCDS10076.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.671919	0.88348	.	.	ENSG00000137825	ENST00000425927;ENST00000260386	T;T	0.15256	2.44;2.44	5.14	5.14	0.70334	.	0.297262	0.35936	N	0.002897	T	0.34919	0.0914	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	P	0.60345	0.873	T	0.04427	-1.0952	10	0.59425	D	0.04	-8.969	14.2438	0.65975	0.0:0.8509:0.1491:0.0	.	228	P23677	IP3KA_HUMAN	C	123;228	ENSP00000396560:R123C;ENSP00000260386:R228C	ENSP00000260386:R228C	R	+	1	0	ITPKA	39581220	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.581000	0.46077	2.398000	0.81561	0.462000	0.41574	CGC		0.682	ITPKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252695.3		NM_002220		5	13	0	0	0	0.014758	0	5	13		
SPTBN5	51332	broad.mit.edu	37	15	42143103	42143103	+	Missense_Mutation	SNP	G	G	A	rs377294977		TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr15:42143103G>A	ENST00000320955.6	-	66	11097	c.10870C>T	c.(10870-10872)Ccg>Tcg	p.P3624S	RNA5SP393_ENST00000363423.1_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3624	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TCTTCGGACGGTGCTGCAAAC	0.682																																						uc001zos.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(10765-10767)CCG>TCG		spectrin, beta, non-erythrocytic 5		G	SER/PRO	0,4318		0,0,2159	24.0	29.0	27.0		10765	1.7	0.0	15		27	1,8537		0,1,4268	no	missense	SPTBN5	NM_016642.2	74	0,1,6427	AA,AG,GG		0.0117,0.0,0.0078	benign	3589/3640	42143103	1,12855	2159	4269	6428	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42143103G>A	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.10870C>T	15.37:g.42143103G>A	ENSP00000317790:p.Pro3624Ser						p.P3589S	NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	66	11098	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	3624			PH.			Missense_Mutation	SNP	ENST00000320955.6	37	c.10765C>T		.	.	.	.	.	.	.	.	.	.	.	11.90	1.776631	0.31411	0.0	1.17E-4	ENSG00000137877	ENST00000320955	T	0.28454	1.61	3.66	1.72	0.24424	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.349225	0.22228	N	0.062845	T	0.29423	0.0733	M	0.66939	2.045	0.09310	N	1	B	0.23058	0.079	B	0.24701	0.055	T	0.23190	-1.0195	10	0.46703	T	0.11	.	7.9059	0.29761	0.2075:0.0:0.7925:0.0	.	3624	Q9NRC6	SPTN5_HUMAN	S	3624	ENSP00000317790:P3624S	ENSP00000317790:P3624S	P	-	1	0	SPTBN5	39930395	0.263000	0.24083	0.007000	0.13788	0.105000	0.19272	1.427000	0.34881	0.512000	0.28257	0.561000	0.74099	CCG		0.682	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1		NM_016642		7	7	0	0	0	0.004482	0	7	7		
TP53BP1	7158	broad.mit.edu	37	15	43784619	43784619	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr15:43784619G>A	ENST00000263801.3	-	2	292	c.40C>T	c.(40-42)Cag>Tag	p.Q14*	TP53BP1_ENST00000382044.4_Nonsense_Mutation_p.Q19*|TP53BP1_ENST00000450115.2_Nonsense_Mutation_p.Q19*|TP53BP1_ENST00000382039.3_Nonsense_Mutation_p.Q19*	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	14					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GTATCTTGCTGAGAGAAATCT	0.453								Other conserved DNA damage response genes																														uc001zrs.2		NaN																	0				ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7						c.(40-42)CAG>TAG	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	tumor protein p53 binding protein 1 isoform 3							133.0	129.0	130.0					15																	43784619		2201	4298	6499	SO:0001587	stop_gained	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43784619G>A	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.40C>T	15.37:g.43784619G>A	ENSP00000263801:p.Gln14*					TP53BP1_uc010udp.1_Nonsense_Mutation_p.Q14*|TP53BP1_uc001zrq.3_Nonsense_Mutation_p.Q19*|TP53BP1_uc001zrr.3_Nonsense_Mutation_p.Q19*|TP53BP1_uc010udq.1_Nonsense_Mutation_p.Q19*	p.Q14*	NM_005657	NP_005648	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	2	188	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	14					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Nonsense_Mutation	SNP	ENST00000263801.3	37	c.40C>T	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.430503	0.83776	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	.	.	.	4.27	4.27	0.50696	.	0.078079	0.52532	D	0.000067	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-7.6522	14.5908	0.68362	0.0:0.0:1.0:0.0	.	.	.	.	X	14;19;19;19;19	.	ENSP00000263801:Q14X	Q	-	1	0	TP53BP1	41571911	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	6.631000	0.74277	2.407000	0.81776	0.430000	0.28490	CAG		0.453	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3				43	153	0	0	0	0.009718	0	43	153		
MAP1A	4130	broad.mit.edu	37	15	43816516	43816516	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr15:43816516G>C	ENST00000300231.5	+	4	3295	c.2845G>C	c.(2845-2847)Gag>Cag	p.E949Q	MAP1A_ENST00000399453.1_Missense_Mutation_p.E949Q|MAP1A_ENST00000382031.1_Missense_Mutation_p.E1187Q			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	949					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AGCAAACGTAGAGATGTCTGA	0.517																																						uc001zrt.2		NaN																	0				ovary(3)|breast(3)|pancreas(2)|skin(1)	9						c.(2845-2847)GAG>CAG		microtubule-associated protein 1A	Estramustine(DB01196)						102.0	105.0	104.0					15																	43816516		2026	4183	6209	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43816516G>C	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.2845G>C	15.37:g.43816516G>C	ENSP00000300231:p.Glu949Gln						p.E949Q	NM_002373	NP_002364	P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	4	3312	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	949					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.2845G>C	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.505172	0.00992	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01495	4.83;4.83;4.83	5.1	-0.171	0.13331	.	.	.	.	.	T	0.01905	0.0060	L	0.49640	1.575	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.46400	-0.9194	9	0.25751	T	0.34	0.354	4.4308	0.11525	0.1356:0.383:0.3708:0.1105	.	949	P78559	MAP1A_HUMAN	Q	1187;949;949	ENSP00000371462:E1187Q;ENSP00000382380:E949Q;ENSP00000300231:E949Q	ENSP00000300231:E949Q	E	+	1	0	MAP1A	41603808	0.979000	0.34478	0.000000	0.03702	0.005000	0.04900	0.543000	0.23237	-0.184000	0.10567	-0.150000	0.13652	GAG		0.517	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5		NM_002373		19	115	0	0	0	0.007413	0	19	115		
UNC13C	440279	broad.mit.edu	37	15	54308011	54308011	+	Missense_Mutation	SNP	T	T	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr15:54308011T>A	ENST00000260323.11	+	1	2911	c.2911T>A	c.(2911-2913)Tct>Act	p.S971T	UNC13C_ENST00000545554.1_Missense_Mutation_p.S971T|UNC13C_ENST00000537900.1_Missense_Mutation_p.S971T	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	971					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AATTCGTCCTTCTTTCAAAGA	0.388																																						uc002ack.2		NaN																	0				ovary(5)|pancreas(2)	7						c.(2911-2913)TCT>ACT		unc-13 homolog C							61.0	59.0	60.0					15																	54308011		1840	4096	5936	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54308011T>A	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.2911T>A	15.37:g.54308011T>A	ENSP00000260323:p.Ser971Thr						p.S971T	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	2911	+			971			Potential.		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.2911T>A	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	T	10.72	1.429490	0.25726	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.79653	-1.29;-1.26;-1.29	5.58	5.58	0.84498	.	.	.	.	.	T	0.70219	0.3199	L	0.29908	0.895	0.30749	N	0.745358	B	0.21753	0.06	B	0.17098	0.017	T	0.67193	-0.5732	9	0.38643	T	0.18	.	10.2119	0.43145	0.1481:0.0:0.0:0.8519	.	971	Q8NB66	UN13C_HUMAN	T	971	ENSP00000260323:S971T;ENSP00000438156:S971T;ENSP00000442569:S971T	ENSP00000260323:S971T	S	+	1	0	UNC13C	52095303	1.000000	0.71417	0.953000	0.39169	0.987000	0.75469	6.134000	0.71689	2.128000	0.65567	0.528000	0.53228	TCT		0.388	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3		NM_173166		5	13	0	0	0	0.001984	0	5	13		
CELF6	60677	broad.mit.edu	37	15	72608198	72608198	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr15:72608198C>T	ENST00000569547.1	-	2	404	c.333G>A	c.(331-333)aaG>aaA	p.K111K	CELF6_ENST00000567083.1_Silent_p.K111K|RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000287202.5_Silent_p.K111K|CELF6_ENST00000539635.1_5'UTR|RP11-106M3.2_ENST00000379915.4_RNA			Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	111	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						CTGGCAGGGTCTTCTGCTCGT	0.637																																						uc002auh.2		NaN																	0				large_intestine(1)|central_nervous_system(1)|skin(1)	3						c.(331-333)AAG>AAA		bruno-like 6, RNA binding protein							41.0	38.0	39.0					15																	72608198		2199	4296	6495	SO:0001819	synonymous_variant	60677				mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr15:72608198C>T	AF425606	CCDS10242.1, CCDS53955.1, CCDS53956.1	15q24	2013-02-12	2010-02-19	2010-02-19	ENSG00000140488	ENSG00000140488		"""RNA binding motif (RRM) containing"""	14059	protein-coding gene	gene with protein product		612681	"""Bruno (Drosophila) -like 6, RNA binding protein"", ""bruno-like 6, RNA binding protein (Drosophila)"""	BRUNOL6		10893231	Standard	NM_052840		Approved		uc002auh.2	Q96J87	OTTHUMG00000133444	ENST00000569547.1:c.333G>A	15.37:g.72608198C>T						uc002aug.2_Intron|CELF6_uc002auk.3_RNA|CELF6_uc010biv.1_RNA|CELF6_uc010ukm.1_Silent_p.K111K|CELF6_uc002aui.2_Missense_Mutation_p.D234N|CELF6_uc002auj.2_5'UTR	p.K111K	NM_052840	NP_443072	Q96J87	CELF6_HUMAN			2	643	-			111			RRM 1.		B4DG28|B4DJB6|Q6PII4|Q6ZNJ7|Q8N607	Silent	SNP	ENST00000569547.1	37	c.333G>A	CCDS10242.1																																																																																				0.637	CELF6-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000420180.1		NM_052840		3	7	0	0	0	0.004672	0	3	7		
FURIN	5045	broad.mit.edu	37	15	91423194	91423194	+	Silent	SNP	C	C	T	rs375829786		TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr15:91423194C>T	ENST00000268171.3	+	12	1635	c.1356C>T	c.(1354-1356)atC>atT	p.I452I		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	452					cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of low-density lipoprotein particle receptor catabolic process (GO:0032804)|negative regulation of transforming growth factor beta1 production (GO:0032911)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-translational protein modification (GO:0043687)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)|regulation of protein catabolic process (GO:0042176)|secretion by cell (GO:0032940)|signal peptide processing (GO:0006465)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|nerve growth factor binding (GO:0048406)|peptidase activity (GO:0008233)|peptide binding (GO:0042277)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			AGTGCATCATCGACATCCTCA	0.667																																						uc002bpu.1		NaN																	0				central_nervous_system(4)|lung(2)|breast(1)	7						c.(1354-1356)ATC>ATT		furin preproprotein		C		0,4396		0,0,2198	22.0	25.0	24.0		1356	-6.1	0.4	15		24	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	FURIN	NM_002569.2		0,1,6495	TT,TC,CC		0.0116,0.0,0.0077		452/795	91423194	1,12991	2198	4298	6496	SO:0001819	synonymous_variant	5045				cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity	g.chr15:91423194C>T	X17094	CCDS10364.1	15q26.1	2007-01-24	2002-12-04	2002-12-06	ENSG00000140564	ENSG00000140564			8568	protein-coding gene	gene with protein product		136950	"""paired basic amino acid cleaving enzyme (furin, membrane associated receptor protein)"""	PCSK3, FUR, PACE		2251280, 1741956	Standard	NM_002569		Approved	SPC1	uc002bpu.1	P09958	OTTHUMG00000149831	ENST00000268171.3:c.1356C>T	15.37:g.91423194C>T							p.I452I	NM_002569	NP_002560	P09958	FURIN_HUMAN	Lung(145;0.189)		12	1572	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		452					Q14336|Q6LBS3|Q9UCZ5	Silent	SNP	ENST00000268171.3	37	c.1356C>T	CCDS10364.1	.	.	.	.	.	.	.	.	.	.	C	7.058	0.565749	0.13560	0.0	1.16E-4	ENSG00000140564	ENST00000535252	.	.	.	4.65	-6.05	0.02172	.	.	.	.	.	T	0.39172	0.1068	.	.	.	0.53688	D	0.999978	.	.	.	.	.	.	T	0.32322	-0.9911	5	0.10636	T	0.68	-5.8924	10.2745	0.43501	0.0:0.3998:0.0896:0.5106	.	.	.	.	L	51	.	ENSP00000439549:S51L	S	+	2	0	FURIN	89224198	0.003000	0.15002	0.431000	0.26735	0.829000	0.46940	-1.099000	0.03343	-1.514000	0.01786	-1.699000	0.00722	TCG		0.667	FURIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313492.1		NM_002569		7	24	0	0	0	0.001984	0	7	24		
MSLNL	401827	broad.mit.edu	37	16	824500	824500	+	Missense_Mutation	SNP	G	G	A	rs544418530		TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr16:824500G>A	ENST00000442466.1	-	7	687	c.688C>T	c.(688-690)Cct>Tct	p.P230S	MSLNL_ENST00000293892.3_Missense_Mutation_p.P581S			Q96KJ4	MSLNL_HUMAN	mesothelin-like	230					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CAGGAGCCAGGGGGCCTTGTG	0.716													.|||	1	0.000199681	0.0	0.0	5008	,	,		13532	0.0		0.0	False		,,,				2504	0.001					uc002cjz.1		NaN																	0				breast(3)|ovary(1)	4						c.(1741-1743)CCT>TCT		mesothelin-like							11.0	13.0	13.0					16																	824500		1895	4093	5988	SO:0001583	missense	401827				cell adhesion	integral to membrane		g.chr16:824500G>A			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 37"""	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.688C>T	16.37:g.824500G>A	ENSP00000415767:p.Pro230Ser						p.P581S	NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN			8	1741	-			230			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000442466.1	37	c.1741C>T		.	.	.	.	.	.	.	.	.	.	G	15.12	2.737836	0.49045	.	.	ENSG00000162006	ENST00000543963;ENST00000442466;ENST00000293892	T;T;T	0.20332	2.08;2.08;2.08	4.35	4.35	0.52113	.	0.073530	0.53938	D	0.000042	T	0.43433	0.1247	.	.	.	0.34622	D	0.718675	D	0.76494	0.999	D	0.75484	0.986	T	0.58370	-0.7648	9	0.59425	D	0.04	-9.012	12.2199	0.54428	0.0:0.0:1.0:0.0	.	230	Q96KJ4	MSLNL_HUMAN	S	280;230;581	ENSP00000441381:P280S;ENSP00000415767:P230S;ENSP00000293892:P581S	ENSP00000293892:P581S	P	-	1	0	MSLNL	764501	0.907000	0.30839	0.566000	0.28421	0.653000	0.38743	3.572000	0.53849	2.238000	0.73509	0.549000	0.68633	CCT		0.716	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_001025190		7	3	0	0	0	0.006214	0	7	3		
ZSCAN10	84891	broad.mit.edu	37	16	3140353	3140353	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr16:3140353C>T	ENST00000252463.2	-	5	1004	c.917G>A	c.(916-918)cGc>cAc	p.R306H	ZSCAN10_ENST00000538082.2_Missense_Mutation_p.R224H|ZSCAN10_ENST00000575108.1_5'UTR	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	306					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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CGCCTTCAGGCGAGACAGCTG	0.642																																						uc002ctv.1		NaN																	0				ovary(1)	1						c.(916-918)CGC>CAC		zinc finger and SCAN domain containing 10							34.0	37.0	36.0					16																	3140353		2163	4226	6389	SO:0001583	missense	84891				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3140353C>T	AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"""-"", ""Zinc fingers, C2H2-type"""	12997	protein-coding gene	gene with protein product			"""zinc finger protein 206"""	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.917G>A	16.37:g.3140353C>T	ENSP00000252463:p.Arg306His					ZSCAN10_uc002cty.1_5'UTR|ZSCAN10_uc002ctw.1_Missense_Mutation_p.R224H|ZSCAN10_uc002ctx.1_Missense_Mutation_p.R234H	p.R306H	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN			5	1005	-			306			C2H2-type 1.		B3KQD3|H0YFS6|Q1WWM2	Missense_Mutation	SNP	ENST00000252463.2	37	c.917G>A	CCDS10493.1	.	.	.	.	.	.	.	.	.	.	C	6.063	0.380009	0.11466	.	.	ENSG00000130182	ENST00000538082;ENST00000252463	T	0.46819	0.86	5.27	3.31	0.37934	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.698560	0.13085	N	0.415008	T	0.22244	0.0536	N	0.04260	-0.245	0.22468	N	0.999074	B;B	0.16396	0.017;0.017	B;B	0.15484	0.008;0.013	T	0.23226	-1.0194	10	0.09843	T	0.71	-18.895	8.7529	0.34629	0.0:0.8131:0.0:0.1869	.	239;306	Q1WWM2;Q96SZ4	.;ZSC10_HUMAN	H	239;306	ENSP00000252463:R306H	ENSP00000252463:R306H	R	-	2	0	ZSCAN10	3080354	0.102000	0.21896	0.128000	0.21923	0.092000	0.18411	0.266000	0.18534	0.603000	0.29913	0.563000	0.77884	CGC		0.642	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2		NM_032805		19	60	0	0	0	0.007413	0	19	60		
ZNF263	10127	broad.mit.edu	37	16	3333838	3333838	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr16:3333838C>T	ENST00000219069.5	+	1	896	c.20C>T	c.(19-21)tCc>tTc	p.S7F	ZNF263_ENST00000574253.1_Missense_Mutation_p.S7F|ZNF263_ENST00000573578.1_Missense_Mutation_p.S7F|ZNF263_ENST00000538765.1_Intron	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	7					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						GGCCCGGGCTCCCAGGAACGG	0.682																																						uc002cuq.2		NaN																	0				skin(3)|ovary(1)	4						c.(19-21)TCC>TTC		zinc finger protein 263							30.0	37.0	35.0					16																	3333838		2197	4299	6496	SO:0001583	missense	10127				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3333838C>T	AC004232	CCDS10499.1	16p13.3	2013-01-09			ENSG00000006194	ENSG00000006194		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13056	protein-coding gene	gene with protein product		604191				9256059	Standard	NM_005741		Approved	FPM315, ZKSCAN12, ZSCAN44	uc002cuq.3	O14978	OTTHUMG00000129323	ENST00000219069.5:c.20C>T	16.37:g.3333838C>T	ENSP00000219069:p.Ser7Phe					ZNF263_uc010uww.1_Intron|ZNF263_uc002cup.2_Missense_Mutation_p.S7F	p.S7F	NM_005741	NP_005732	O14978	ZN263_HUMAN			1	352	+			7					B2R634|O43387|Q96H95	Missense_Mutation	SNP	ENST00000219069.5	37	c.20C>T	CCDS10499.1	.	.	.	.	.	.	.	.	.	.	C	8.168	0.791088	0.16258	.	.	ENSG00000006194	ENST00000219069	T	0.05513	3.43	4.85	2.91	0.33838	.	0.496525	0.18976	N	0.126012	T	0.03695	0.0105	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.002	T	0.41342	-0.9514	10	0.32370	T	0.25	.	6.9488	0.24534	0.0:0.7312:0.1755:0.0933	.	7;7	O14978;D3DUC1	ZN263_HUMAN;.	F	7	ENSP00000219069:S7F	ENSP00000219069:S7F	S	+	2	0	ZNF263	3273839	0.000000	0.05858	0.140000	0.22221	0.175000	0.22909	-0.174000	0.09839	0.774000	0.33427	-0.121000	0.15023	TCC		0.682	ZNF263-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251463.2				8	24	0	0	0	0.004482	0	8	24		
GRIN2A	2903	broad.mit.edu	37	16	9857275	9857275	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr16:9857275G>A	ENST00000396573.2	-	14	4435	c.4126C>T	c.(4126-4128)Cgc>Tgc	p.R1376C	GRIN2A_ENST00000404927.2_Silent_p.N1261N|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R1376C|GRIN2A_ENST00000330684.3_Missense_Mutation_p.R1376C|GRIN2A_ENST00000535259.1_Silent_p.N1104N|GRIN2A_ENST00000562109.1_Silent_p.N1261N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1376					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.R1376S(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ATAACCAAGCGTTGGTCATCC	0.562																																						uc002czo.3		NaN																	1	Substitution - Missense(1)		lung(1)	skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(4126-4128)CGC>TGC		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						93.0	85.0	87.0					16																	9857275		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9857275G>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.4126C>T	16.37:g.9857275G>A	ENSP00000379818:p.Arg1376Cys					GRIN2A_uc010uym.1_Missense_Mutation_p.R1376C|GRIN2A_uc010uyn.1_Silent_p.N1104N|GRIN2A_uc002czr.3_Silent_p.N1261N	p.R1376C	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			13	4674	-			1376			Cytoplasmic (Potential).		O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.4126C>T	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.897937	0.52227	.	.	ENSG00000183454	ENST00000396573;ENST00000330684;ENST00000396575	T;T;T	0.10382	2.88;2.88;2.88	5.61	5.61	0.85477	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.171581	0.51477	D	0.000094	T	0.14874	0.0359	N	0.25426	0.745	0.80722	D	1	D	0.67145	0.996	P	0.54815	0.761	T	0.02161	-1.1203	9	.	.	.	.	13.8992	0.63792	0.0:0.0:0.848:0.152	.	1376	Q12879	NMDE1_HUMAN	C	1376	ENSP00000379818:R1376C;ENSP00000332549:R1376C;ENSP00000379820:R1376C	.	R	-	1	0	GRIN2A	9764776	1.000000	0.71417	0.588000	0.28705	0.984000	0.73092	3.971000	0.56831	2.793000	0.96121	0.655000	0.94253	CGC		0.562	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3				13	80	0	0	0	0.016723	0	13	80		
SMG1	23049	broad.mit.edu	37	16	18823360	18823360	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr16:18823360C>G	ENST00000446231.2	-	61	11123	c.10711G>C	c.(10711-10713)Gct>Cct	p.A3571P	SMG1_ENST00000389467.3_Missense_Mutation_p.A3572P|RP11-1035H13.2_ENST00000569096.1_RNA			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3571					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						GGAGTATCAGCTGATGTAGCA	0.453																																						uc002dfm.2		NaN																	0				breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						c.(10711-10713)GCT>CCT		PI-3-kinase-related kinase SMG-1							102.0	92.0	95.0					16																	18823360		1911	4129	6040	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18823360C>G	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.10711G>C	16.37:g.18823360C>G	ENSP00000402515:p.Ala3571Pro					SMG1_uc010bwb.2_Missense_Mutation_p.A3431P|SMG1_uc010bwa.2_Missense_Mutation_p.A2302P	p.A3571P	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN			61	11074	-			3571					O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.10711G>C	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	C	19.37	3.815428	0.70912	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01119	5.31;5.31	5.87	5.87	0.94306	.	0.176560	0.40144	N	0.001162	T	0.01835	0.0058	N	0.19112	0.55	0.43830	D	0.996401	P	0.50617	0.937	P	0.46110	0.504	T	0.71859	-0.4465	10	0.51188	T	0.08	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	3571	Q96Q15	SMG1_HUMAN	P	3571;3572	ENSP00000402515:A3571P;ENSP00000374118:A3572P	ENSP00000374118:A3572P	A	-	1	0	SMG1	18730861	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.722000	0.54948	2.941000	0.99782	0.655000	0.94253	GCT		0.453	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1		NM_015092		10	66	0	0	0	0.010729	0	10	66		
CLN3	1201	broad.mit.edu	37	16	28489120	28489120	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr16:28489120G>C	ENST00000569430.1	-	16	1954	c.1135C>G	c.(1135-1137)Ctg>Gtg	p.L379V	CLN3_ENST00000357806.7_Missense_Mutation_p.L280V|CLN3_ENST00000395653.4_Missense_Mutation_p.L279V|CLN3_ENST00000565316.1_Missense_Mutation_p.L362V|CLN3_ENST00000354630.5_Missense_Mutation_p.L362V|CLN3_ENST00000568224.1_Missense_Mutation_p.L301V|CLN3_ENST00000359984.7_Missense_Mutation_p.L379V|CLN3_ENST00000535392.1_Missense_Mutation_p.L301V|CLN3_ENST00000333496.9_Missense_Mutation_p.L355V|CLN3_ENST00000360019.2_Missense_Mutation_p.L379V|CLN3_ENST00000355477.5_Missense_Mutation_p.L331V|CLN3_ENST00000567963.1_Intron|CLN3_ENST00000357857.9_Missense_Mutation_p.L325V			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	379					action potential (GO:0001508)|amyloid precursor protein catabolic process (GO:0042987)|arginine transport (GO:0015809)|associative learning (GO:0008306)|autophagic vacuole fusion (GO:0000046)|cell death (GO:0008219)|cellular amino acid metabolic process (GO:0006520)|ceramide metabolic process (GO:0006672)|cytosolic calcium ion homeostasis (GO:0051480)|galactosylceramide metabolic process (GO:0006681)|globoside metabolic process (GO:0001575)|glucosylceramide metabolic process (GO:0006678)|ionotropic glutamate receptor signaling pathway (GO:0035235)|lysosomal lumen acidification (GO:0007042)|lysosomal lumen pH elevation (GO:0035752)|lysosome organization (GO:0007040)|macroautophagy (GO:0016236)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of macroautophagy (GO:0016242)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteolysis (GO:0045861)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter metabolic process (GO:0042133)|protein catabolic process (GO:0030163)|protein processing (GO:0016485)|receptor-mediated endocytosis (GO:0006898)|sphingomyelin metabolic process (GO:0006684)|vacuolar transport (GO:0007034)|vesicle transport along microtubule (GO:0047496)	autophagic vacuole (GO:0005776)|caveola (GO:0005901)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	unfolded protein binding (GO:0051082)			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						CCCTCATACAGAATGATCAGG	0.602																																						uc002dpo.2		NaN																	0					0						c.(1135-1137)CTG>GTG		ceroid-lipofuscinosis, neuronal 3							79.0	80.0	80.0					16																	28489120		2197	4300	6497	SO:0001583	missense	1201				amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding	g.chr16:28489120G>C	U32680	CCDS10632.1, CCDS73852.1, CCDS73853.1, CCDS73854.1, CCDS73855.1	16p12	2014-09-17	2008-07-29		ENSG00000188603	ENSG00000188603			2074	protein-coding gene	gene with protein product	"""juvenile neuronal ceroid lipofuscinosis"""	607042	"""Batten, Spielmeyer-Vogt disease"""	BTS		18317235	Standard	NM_001042432		Approved	JNCL	uc002dpp.3	Q13286	OTTHUMG00000097024	ENST00000569430.1:c.1135C>G	16.37:g.28489120G>C	ENSP00000454229:p.Leu379Val					uc010vct.1_Intron|CLN3_uc002dpl.2_Missense_Mutation_p.L301V|CLN3_uc010vcu.1_Missense_Mutation_p.L279V|CLN3_uc002dpn.2_Missense_Mutation_p.L280V|CLN3_uc002dpm.2_Missense_Mutation_p.L325V|CLN3_uc010vcv.1_Missense_Mutation_p.L355V|CLN3_uc010byd.2_Intron|CLN3_uc002dpp.2_Missense_Mutation_p.L379V|CLN3_uc002dpt.1_Missense_Mutation_p.L279V|CLN3_uc002dpq.1_Missense_Mutation_p.L331V|CLN3_uc010bye.1_Missense_Mutation_p.L362V|CLN3_uc002dpr.1_RNA|CLN3_uc010byf.1_RNA|CLN3_uc002dps.1_Missense_Mutation_p.L252V|CLN3_uc002dpu.1_Missense_Mutation_p.L277V	p.L379V	NM_000086	NP_000077	Q13286	CLN3_HUMAN			14	1458	-			379					B2R7J1|O00668|O95089|Q549S9|Q9UP09|Q9UP11|Q9UP12|Q9UP13|Q9UP14	Missense_Mutation	SNP	ENST00000569430.1	37	c.1135C>G	CCDS10632.1	.	.	.	.	.	.	.	.	.	.	g	13.88	2.369142	0.42003	.	.	ENSG00000188603	ENST00000535392;ENST00000359984;ENST00000360019;ENST00000354630;ENST00000355477;ENST00000357857;ENST00000395653;ENST00000357806	D;D;D;D;D;D;D;D	0.97209	-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29	5.29	0.844	0.18943	Major facilitator superfamily domain, general substrate transporter (1);	0.378780	0.24698	N	0.036333	D	0.93556	0.7943	L	0.49571	1.57	0.80722	D	1	B;B;B;B;B;B;B;P	0.38827	0.009;0.006;0.01;0.018;0.011;0.018;0.05;0.649	B;B;B;B;B;B;B;B	0.40659	0.04;0.005;0.017;0.028;0.059;0.024;0.059;0.336	D	0.87423	0.2383	10	0.33940	T	0.23	-0.9638	3.68	0.08306	0.0774:0.2594:0.3973:0.2659	.	355;362;277;279;325;331;379;280	B4DXL3;Q13286-3;O95086;B4DMY6;B4DFF3;Q13286-2;Q13286;O95089	.;.;.;.;.;.;CLN3_HUMAN;.	V	301;379;379;362;331;325;279;280	ENSP00000443221:L301V;ENSP00000353073:L379V;ENSP00000353116:L379V;ENSP00000346650:L362V;ENSP00000347660:L331V;ENSP00000350523:L325V;ENSP00000379014:L279V;ENSP00000350457:L280V	ENSP00000346650:L362V	L	-	1	2	CLN3	28396621	0.973000	0.33851	0.995000	0.50966	0.916000	0.54674	0.157000	0.16402	0.200000	0.20447	0.556000	0.70494	CTG		0.602	CLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214115.2				19	76	0	0	0	0.007413	0	19	76		
APOBR	55911	broad.mit.edu	37	16	28507766	28507766	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr16:28507766G>C	ENST00000431282.1	+	3	1387	c.1377G>C	c.(1375-1377)aaG>aaC	p.K459N	APOBR_ENST00000564831.1_Missense_Mutation_p.K468N|APOBR_ENST00000328423.5_Missense_Mutation_p.K459N|CLN3_ENST00000569430.1_5'Flank|CLN3_ENST00000567160.1_5'Flank			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	459	Glu-rich.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						TGCGTGGTAAGGAGGCTGAGA	0.642																																						uc002dqb.1		NaN																	0					0						c.(1375-1377)AAG>AAC		apolipoprotein B48 receptor							33.0	37.0	36.0					16																	28507766		2107	4239	6346	SO:0001583	missense	55911				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle		g.chr16:28507766G>C	AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"""apolipoprotein B48 receptor"", ""apolipoprotein B100 receptor"""	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.1377G>C	16.37:g.28507766G>C	ENSP00000416094:p.Lys459Asn					uc010vct.1_Intron|APOB48R_uc010byg.1_5'UTR	p.K459N	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN			3	1387	+			459			Glu-rich.		H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Missense_Mutation	SNP	ENST00000431282.1	37	c.1377G>C		.	.	.	.	.	.	.	.	.	.	G	14.08	2.430089	0.43122	.	.	ENSG00000184730	ENST00000328423;ENST00000431282	T;T	0.69806	-0.43;-0.43	4.8	3.71	0.42584	.	.	.	.	.	T	0.52901	0.1763	N	0.24115	0.695	0.09310	N	1	P	0.45827	0.867	P	0.47015	0.534	T	0.33599	-0.9862	9	0.24483	T	0.36	-0.0975	4.843	0.13500	0.7103:0.1892:0.1005:0.0	.	459	Q9NS13	.	N	459	ENSP00000327669:K459N;ENSP00000416094:K459N	ENSP00000327669:K459N	K	+	3	2	APOBR	28415267	0.000000	0.05858	0.016000	0.15963	0.016000	0.09150	-0.584000	0.05800	0.691000	0.31592	-0.504000	0.04507	AAG		0.642	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_182804		3	23	0	0	0	0.004672	0	3	23		
SALL1	6299	broad.mit.edu	37	16	51173970	51173970	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr16:51173970C>T	ENST00000251020.4	-	2	2196	c.2163G>A	c.(2161-2163)ttG>ttA	p.L721L	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Silent_p.L624L|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	721					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AGTGCATTTTCAAGGCGCTCT	0.517																																					GBM(103;1352 1446 1855 4775 8890)	uc010vgs.1		NaN																	0				skin(5)|ovary(3)	8						c.(2161-2163)TTG>TTA		sal-like 1 isoform a							63.0	63.0	63.0					16																	51173970		2198	4300	6498	SO:0001819	synonymous_variant	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51173970C>T	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.2163G>A	16.37:g.51173970C>T						SALL1_uc010vgr.1_Silent_p.L624L|SALL1_uc010cbv.2_Intron	p.L721L	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	2194	-		all_cancers(37;0.0322)	721			C2H2-type 3.		Q99881|Q9NSC3|Q9P1R0	Silent	SNP	ENST00000251020.4	37	c.2163G>A	CCDS10747.1																																																																																				0.517	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2		NM_002968		13	61	0	0	0	0.013537	0	13	61		
SALL1	6299	broad.mit.edu	37	16	51174338	51174338	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr16:51174338C>T	ENST00000251020.4	-	2	1828	c.1795G>A	c.(1795-1797)Gag>Aag	p.E599K	SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.E502K|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	599					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GTGGCTGACTCAGGGCCCCCG	0.602																																					GBM(103;1352 1446 1855 4775 8890)	uc010vgs.1		NaN																	0				skin(5)|ovary(3)	8						c.(1795-1797)GAG>AAG		sal-like 1 isoform a							23.0	28.0	26.0					16																	51174338		2194	4298	6492	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51174338C>T	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.1795G>A	16.37:g.51174338C>T	ENSP00000251020:p.Glu599Lys					SALL1_uc010vgr.1_Missense_Mutation_p.E502K|SALL1_uc010cbv.2_Intron	p.E599K	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	1826	-		all_cancers(37;0.0322)	599					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.1795G>A	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.961760	0.34659	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.06371	3.31;3.33	5.32	5.32	0.75619	.	0.249871	0.46442	D	0.000295	T	0.05960	0.0155	N	0.25647	0.755	0.58432	D	0.999999	B	0.24963	0.115	B	0.23275	0.045	T	0.35375	-0.9791	10	0.09084	T	0.74	-9.608	18.9957	0.92812	0.0:1.0:0.0:0.0	.	599	Q9NSC2	SALL1_HUMAN	K	599;502;563	ENSP00000251020:E599K;ENSP00000407914:E502K	ENSP00000251020:E599K	E	-	1	0	SALL1	49731839	1.000000	0.71417	0.189000	0.23252	0.620000	0.37586	7.483000	0.81158	2.475000	0.83589	0.557000	0.71058	GAG		0.602	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2		NM_002968		10	50	0	0	0	0.006214	0	10	50		
CNGB1	1258	broad.mit.edu	37	16	58001085	58001085	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr16:58001085C>G	ENST00000251102.8	-	2	166	c.106G>C	c.(106-108)Gag>Cag	p.E36Q	CNGB1_ENST00000564448.1_Missense_Mutation_p.E36Q|CNGB1_ENST00000311183.4_Missense_Mutation_p.E36Q	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	36	Glu-rich.				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						GGTTCCACCTCCGCCTCCATC	0.652																																					Colon(156;1293 1853 16336 28962 38659)	uc002emt.2		NaN																	0				breast(3)|pancreas(1)	4						c.(106-108)GAG>CAG		cyclic nucleotide gated channel beta 1 isoform							96.0	101.0	100.0					16																	58001085		2013	4167	6180	SO:0001583	missense	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:58001085C>G	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.106G>C	16.37:g.58001085C>G	ENSP00000251102:p.Glu36Gln					CNGB1_uc010cdh.2_Missense_Mutation_p.E36Q|CNGB1_uc002emu.2_Missense_Mutation_p.E36Q	p.E36Q	NM_001297	NP_001288	Q14028	CNGB1_HUMAN			2	171	-			36			Glu-rich.		H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	37	c.106G>C	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.463067	0.63513	.	.	ENSG00000070729	ENST00000251102;ENST00000311183	D;T	0.97752	-4.52;0.5	5.23	5.23	0.72850	.	0.190939	0.25511	N	0.030176	D	0.97520	0.9188	L	0.39898	1.24	0.09310	N	1	D;D	0.69078	0.997;0.99	D;P	0.66351	0.943;0.585	D	0.93379	0.6742	10	0.45353	T	0.12	.	14.6508	0.68794	0.0:1.0:0.0:0.0	.	36;36	Q14028-3;Q14028	.;CNGB1_HUMAN	Q	36	ENSP00000251102:E36Q;ENSP00000311670:E36Q	ENSP00000251102:E36Q	E	-	1	0	CNGB1	56558586	0.000000	0.05858	0.009000	0.14445	0.009000	0.06853	0.274000	0.18680	2.599000	0.87857	0.448000	0.29417	GAG		0.652	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2		NM_001297		14	47	0	0	0	0.020292	0	14	47		
VAC14	55697	broad.mit.edu	37	16	70796903	70796903	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr16:70796903G>A	ENST00000261776.5	-	11	1446	c.1186C>T	c.(1186-1188)Cac>Tac	p.H396Y	VAC14-AS1_ENST00000398177.1_RNA|VAC14-AS1_ENST00000562507.1_RNA	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	396					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				CCGTCGAGGTGAAGGGTCACT	0.577																																						uc002ezm.2		NaN																	0				pancreas(1)|skin(1)	2						c.(1186-1188)CAC>TAC		Vac14 homolog							110.0	85.0	93.0					16																	70796903		2198	4300	6498	SO:0001583	missense	55697				interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	g.chr16:70796903G>A	AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"""Tax1 (human T-cell leukemia virus type I) binding protein 2"""	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.1186C>T	16.37:g.70796903G>A	ENSP00000261776:p.His396Tyr					VAC14_uc010cfw.2_Missense_Mutation_p.H162Y|VAC14_uc002ezn.2_Intron|uc002ezp.1_Intron	p.H396Y	NM_018052	NP_060522	Q08AM6	VAC14_HUMAN			11	1444	-		Ovarian(137;0.0699)	396					B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Missense_Mutation	SNP	ENST00000261776.5	37	c.1186C>T	CCDS10896.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.760557	0.49468	.	.	ENSG00000103043	ENST00000261776	T	0.64438	-0.1	5.68	2.3	0.28687	Armadillo-like helical (1);Armadillo-type fold (1);	0.177609	0.64402	D	0.000013	T	0.47857	0.1468	L	0.43152	1.355	0.80722	D	1	B	0.28552	0.215	B	0.15870	0.014	T	0.45745	-0.9240	10	0.56958	D	0.05	-16.5547	8.0426	0.30529	0.0:0.119:0.3371:0.5439	.	396	Q08AM6	VAC14_HUMAN	Y	396	ENSP00000261776:H396Y	ENSP00000261776:H396Y	H	-	1	0	VAC14	69354404	1.000000	0.71417	0.991000	0.47740	0.888000	0.51559	3.267000	0.51577	0.695000	0.31675	0.563000	0.77884	CAC		0.577	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268973.3		NM_018052		6	30	0	0	0	0.001984	0	6	30		
FANCA	2175	broad.mit.edu	37	16	89809308	89809308	+	Missense_Mutation	SNP	G	G	A	rs374537936		TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr16:89809308G>A	ENST00000389301.3	-	37	3695	c.3665C>T	c.(3664-3666)cCg>cTg	p.P1222L	FANCA_ENST00000568369.1_Missense_Mutation_p.P1222L	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1222					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GAGCCAGTCCGGGTTGGGTGC	0.552			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc002fou.1		NaN	yes	Rec		Fanconi anaemia A	16	16q24.3	2175	D|Mis|N|F|S	"""Fanconi anemia, complementation group A"""			L		AML|leukemia			0				ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6						c.(3664-3666)CCG>CTG	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group A isoform		G	LEU/PRO	0,4396		0,0,2198	74.0	72.0	73.0		3665	2.9	0.0	16		73	1,8599	1.2+/-3.3	0,1,4299	no	missense	FANCA	NM_000135.2	98	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1222/1456	89809308	1,12995	2198	4300	6498	SO:0001583	missense	2175	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	g.chr16:89809308G>A	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.3665C>T	16.37:g.89809308G>A	ENSP00000373952:p.Pro1222Leu					FANCA_uc010vpn.1_Missense_Mutation_p.P1222L|FANCA_uc010vpo.1_Missense_Mutation_p.P308L	p.P1222L	NM_000135	NP_000126	O15360	FANCA_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.028)	37	3707	-		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)	1222					A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	ENST00000389301.3	37	c.3665C>T	CCDS32515.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.185631	0.57909	0.0	1.16E-4	ENSG00000187741	ENST00000389301;ENST00000305699	D	0.85088	-1.94	4.85	2.88	0.33553	.	0.101220	0.44097	N	0.000486	D	0.86389	0.5921	M	0.74881	2.28	0.25769	N	0.98486	B;D;D	0.62365	0.417;0.991;0.983	B;P;P	0.50314	0.065;0.637;0.485	T	0.79536	-0.1763	10	0.72032	D	0.01	-21.7129	8.9498	0.35781	0.1734:0.0:0.8266:0.0	.	199;1222;1222	B7Z6Y4;B4DRI7;O15360	.;.;FANCA_HUMAN	L	1222;199	ENSP00000373952:P1222L	ENSP00000306281:P199L	P	-	2	0	FANCA	88336809	0.964000	0.33143	0.018000	0.16275	0.001000	0.01503	5.490000	0.66881	0.582000	0.29556	-0.300000	0.09419	CCG		0.552	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1				14	31	0	0	0	0.020292	0	14	31		
DBNDD1	79007	broad.mit.edu	37	16	90075252	90075252	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr16:90075252C>G	ENST00000002501.6	-	3	390	c.259G>C	c.(259-261)Gag>Cag	p.E87Q	DBNDD1_ENST00000392973.3_Missense_Mutation_p.E93Q|DBNDD1_ENST00000304733.3_Missense_Mutation_p.E107Q|DBNDD1_ENST00000568838.1_Missense_Mutation_p.E207Q	NM_001042610.1	NP_001036075.1	Q9H9R9	DBND1_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 1	87						cytoplasm (GO:0005737)				kidney(1)|large_intestine(1)|lung(1)	3		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0275)		TCGGCCAGCTCCTGGTCCGAC	0.642																																						uc002fqf.1		NaN																	0					0						c.(259-261)GAG>CAG		dysbindin (dystrobrevin binding protein 1)							36.0	41.0	39.0					16																	90075252		2041	4177	6218	SO:0001583	missense	79007					cytoplasm		g.chr16:90075252C>G	AK090696	CCDS10991.2, CCDS42223.1, CCDS73931.1	16q24.3	2008-02-05			ENSG00000003249	ENSG00000003249			28455	protein-coding gene	gene with protein product						12477932	Standard	NM_001288708		Approved	MGC3101, FLJ12582	uc002fqe.1	Q9H9R9	OTTHUMG00000138984	ENST00000002501.6:c.259G>C	16.37:g.90075252C>G	ENSP00000002501:p.Glu87Gln					DBNDD1_uc002fqe.1_Missense_Mutation_p.E107Q|DBNDD1_uc002fqg.1_RNA	p.E87Q	NM_001042610	NP_001036075	Q9H9R9	DBND1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0275)	3	447	-		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)	87					B4DQS3|Q69YT2|Q9BW25	Missense_Mutation	SNP	ENST00000002501.6	37	c.259G>C	CCDS42223.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.590031	0.86851	.	.	ENSG00000003249	ENST00000304733;ENST00000002501;ENST00000392973	T;T	0.46819	0.86;0.86	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.72439	0.3460	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.75218	-0.3395	9	.	.	.	-32.5223	18.8051	0.92034	0.0:1.0:0.0:0.0	.	87;107	Q9H9R9;Q9H9R9-2	DBND1_HUMAN;.	Q	107;87;207	ENSP00000306407:E107Q;ENSP00000002501:E87Q	.	E	-	1	0	DBNDD1	88602753	1.000000	0.71417	1.000000	0.80357	0.602000	0.36980	7.436000	0.80404	2.462000	0.83206	0.313000	0.20887	GAG		0.642	DBNDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272872.1		NM_024043		3	14	0	0	0	0.004672	0	3	14		
P2RX1	5023	broad.mit.edu	37	17	3819557	3819557	+	De_novo_Start_OutOfFrame	SNP	C	C	T	rs202013610		TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr17:3819557C>T	ENST00000225538.3	-	0	237					NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ceramide biosynthetic process (GO:0046513)|insemination (GO:0007320)|ion transport (GO:0006811)|neuronal action potential (GO:0019228)|platelet activation (GO:0030168)|positive regulation of ion transport (GO:0043270)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of vascular smooth muscle contraction (GO:0003056)|response to ATP (GO:0033198)|serotonin secretion by platelet (GO:0002554)|signal transduction (GO:0007165)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|vasoconstriction (GO:0042310)	external side of cell outer membrane (GO:0031240)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		GCCCCCTGCACGGCCTCTGCT	0.677																																						uc002fww.2		NaN																	0				ovary(1)|skin(1)	2						c.(-39--35)CCGTG>CCATG		purinergic receptor P2X1		C		0,4402		0,0,2201	30.0	35.0	33.0			-0.1	0.0	17		33	19,8581		0,19,4281	no	utr-5	P2RX1	NM_002558.2		0,19,6482	TT,TC,CC		0.2209,0.0,0.1461			3819557	19,12983	2201	4300	6501			5023				platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	g.chr17:3819557C>T	X83688	CCDS11040.1	17p13.3	2012-01-17				ENSG00000108405		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8533	protein-coding gene	gene with protein product		600845				8834001	Standard	NM_002558		Approved	P2X1	uc002fww.3	P51575		ENST00000225538.3:c.-38G>A	17.37:g.3819557C>T						P2RX1_uc010ckm.1_Translation_Start_Site		NM_002558	NP_002549	P51575	P2RX1_HUMAN		LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)	1	404	-								Q9UK84	Translation_Start_Site	SNP	ENST00000225538.3	37	c.-37G>A	CCDS11040.1																																																																																				0.677	P2RX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438391.1		NM_002558		12	70	0	0	0	0.010729	0	12	70		
KIF1C	10749	broad.mit.edu	37	17	4905823	4905823	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr17:4905823C>G	ENST00000320785.5	+	7	851	c.494C>G	c.(493-495)tCt>tGt	p.S165C		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	165	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						AGTCGGGGTTCTCTGCGGGTC	0.547																																					Melanoma(96;1023 1447 10250 19259 33730)	uc002gan.1		NaN																	0				breast(2)	2						c.(493-495)TCT>TGT		kinesin family member 1C							129.0	136.0	134.0					17																	4905823		2203	4300	6503	SO:0001583	missense	10749				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity	g.chr17:4905823C>G	U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"""Kinesins"""	6317	protein-coding gene	gene with protein product		603060	"""spastic ataxia 2 (autosomal recessive)"""	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.494C>G	17.37:g.4905823C>G	ENSP00000320821:p.Ser165Cys						p.S165C	NM_006612	NP_006603	O43896	KIF1C_HUMAN			7	820	+			165			Kinesin-motor.		D3DTL6|O75186|Q5U618	Missense_Mutation	SNP	ENST00000320785.5	37	c.494C>G	CCDS11065.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230532	0.58777	.	.	ENSG00000129250	ENST00000320785	D	0.88975	-2.45	5.43	4.4	0.53042	Kinesin, motor domain (4);	.	.	.	.	D	0.90448	0.7009	M	0.76433	2.335	0.37350	D	0.910777	P	0.39831	0.69	P	0.47786	0.557	D	0.92126	0.5708	9	0.87932	D	0	.	9.7989	0.40753	0.1526:0.699:0.1484:0.0	.	165	O43896	KIF1C_HUMAN	C	165	ENSP00000320821:S165C	ENSP00000320821:S165C	S	+	2	0	KIF1C	4846547	0.985000	0.35326	1.000000	0.80357	0.995000	0.86356	1.523000	0.35932	2.727000	0.93392	0.561000	0.74099	TCT		0.547	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216916.1				146	64	0	0	0	0.01441	0	146	64		
TP53	7157	broad.mit.edu	37	17	7574021	7574021	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr17:7574021C>A	ENST00000269305.4	-	10	1195	c.1006G>T	c.(1006-1008)Gag>Tag	p.E336*	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.E336*|TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000420246.2_3'UTR	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	336	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.				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.0?(8)|p.E336*(5)|p.I332fs*5(1)|p.E336fs*12(1)|p.?(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)	TCGAAGCGCTCACGCCCACGG	0.517		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		16	Whole gene deletion(8)|Substitution - Nonsense(5)|Unknown(1)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	p.0?(7)|p.E336*(5)|p.I332fs*5(1)|p.E336fs*12(1)|p.?(1)	bone(4)|upper_aerodigestive_tract(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|large_intestine(1)|stomach(1)|kidney(1)|pancreas(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	GRCh37	CM044725	TP53	M		c.(1006-1008)GAG>TAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							54.0	43.0	47.0					17																	7574021		2203	4300	6503	SO:0001587	stop_gained	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.chr17:7574021C>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.1006G>T	17.37:g.7574021C>A	ENSP00000269305:p.Glu336*	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_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_3'UTR|TP53_uc010cng.1_3'UTR|TP53_uc002gii.1_Nonsense_Mutation_p.E204*|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Nonsense_Mutation_p.E336*	p.E336*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	10	1200	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	336			Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Interaction with HIPK2.		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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.1006G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.533603	0.64972	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	.	.	.	5.43	-2.52	0.06346	.	0.593826	0.18312	N	0.145079	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-4.6657	7.3173	0.26507	0.0:0.4168:0.1214:0.4617	.	.	.	.	X	336;336;325	.	ENSP00000269305:E336X	E	-	1	0	TP53	7514746	0.255000	0.24002	0.017000	0.16124	0.256000	0.26092	0.710000	0.25748	-0.200000	0.10300	-0.258000	0.10820	GAG		0.517	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		26	12	1	0	5.61819e-17	0.027356	6.1417e-17	26	12		
PIPOX	51268	broad.mit.edu	37	17	27370279	27370279	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr17:27370279G>A	ENST00000323372.4	+	1	362	c.36G>A	c.(34-36)gtG>gtA	p.V12V	PIPOX_ENST00000583215.1_Intron	NM_016518.2	NP_057602.2	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	12					L-lysine catabolic process to acetyl-CoA via L-pipecolate (GO:0033514)|oxidation-reduction process (GO:0055114)|tetrahydrofolate metabolic process (GO:0046653)	peroxisome (GO:0005777)	L-pipecolate oxidase activity (GO:0050031)|receptor binding (GO:0005102)|sarcosine oxidase activity (GO:0008115)			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	ACGCCATTGTGATTGGGGCGG	0.597																																						uc002hdr.1		NaN																	0					0						c.(34-36)GTG>GTA		pipecolic acid oxidase	Glycine(DB00145)						79.0	70.0	73.0					17																	27370279		2203	4300	6503	SO:0001819	synonymous_variant	51268				tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity	g.chr17:27370279G>A	AF134593	CCDS11248.1	17p13.2	2008-07-18			ENSG00000179761	ENSG00000179761			17804	protein-coding gene	gene with protein product	"""L-pipecolic acid oxidase"""					10772957, 10642506	Standard	NM_016518		Approved	LPIPOX	uc002hdr.1	Q9P0Z9	OTTHUMG00000132679	ENST00000323372.4:c.36G>A	17.37:g.27370279G>A							p.V12V	NM_016518	NP_057602	Q9P0Z9	SOX_HUMAN	Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		1	362	+	Lung NSC(42;0.015)		12			FAD (Potential).		B3KNH0|Q96H28|Q9C070	Silent	SNP	ENST00000323372.4	37	c.36G>A	CCDS11248.1																																																																																				0.597	PIPOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255954.1		NM_016518		15	60	0	0	0	0.024245	0	15	60		
TMEM132E	124842	broad.mit.edu	37	17	32955650	32955650	+	Missense_Mutation	SNP	C	C	T	rs201413456		TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr17:32955650C>T	ENST00000321639.5	+	4	1125	c.797C>T	c.(796-798)tCg>tTg	p.S266L		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	266						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CATGTGACCTCGGAGCTGCTG	0.612																																						uc002hif.2		NaN																	0				central_nervous_system(1)	1						c.(796-798)TCG>TTG		transmembrane protein 132E precursor			LEU/SER	0,4406		0,0,2203	66.0	53.0	58.0		797	4.9	1.0	17		58	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TMEM132E	NM_207313.1	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	266/985	32955650	1,13005	2203	4300	6503	SO:0001583	missense	124842					integral to membrane		g.chr17:32955650C>T	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.797C>T	17.37:g.32955650C>T	ENSP00000316532:p.Ser266Leu						p.S266L	NM_207313	NP_997196	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	4	1125	+			266			Extracellular (Potential).		Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	c.797C>T	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	c	15.26	2.780428	0.49891	0.0	1.16E-4	ENSG00000181291	ENST00000321639	T	0.15487	2.42	4.86	4.86	0.63082	.	0.203730	0.44285	D	0.000461	T	0.13329	0.0323	N	0.20401	0.57	0.43408	D	0.995546	P	0.52463	0.953	B	0.44108	0.441	T	0.11817	-1.0572	10	0.12766	T	0.61	-12.8748	17.3609	0.87350	0.0:1.0:0.0:0.0	.	266	Q6IEE7	T132E_HUMAN	L	266	ENSP00000316532:S266L	ENSP00000316532:S266L	S	+	2	0	TMEM132E	29979763	0.996000	0.38824	0.958000	0.39756	0.979000	0.70002	5.161000	0.64935	2.410000	0.81850	0.290000	0.19541	TCG		0.612	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2		NM_207313		7	38	0	0	0	0.00308	0	7	38		
GPR179	440435	broad.mit.edu	37	17	36484690	36484690	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr17:36484690C>T	ENST00000342292.4	-	11	4782	c.4762G>A	c.(4762-4764)Gcc>Acc	p.A1588T	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1588					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TCTGTTTTGGCAGGTGTTGCT	0.502																																						uc002hpz.2		NaN																	0				ovary(3)	3						c.(4762-4764)GCC>ACC		GPR158-like 1 precursor							152.0	151.0	151.0					17																	36484690		2004	4187	6191	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36484690C>T		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.4762G>A	17.37:g.36484690C>T	ENSP00000345060:p.Ala1588Thr						p.A1588T	NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN			11	4783	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	1588			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000342292.4	37	c.4762G>A	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.487981	0.44249	.	.	ENSG00000188888	ENST00000342292	T	0.54279	0.58	4.62	2.5	0.30297	.	0.549164	0.15311	N	0.269065	T	0.39384	0.1076	L	0.46614	1.455	0.09310	N	1	P	0.36222	0.544	B	0.30251	0.113	T	0.32903	-0.9889	10	0.59425	D	0.04	-2.0323	6.8916	0.24232	0.1781:0.7267:0.0:0.0952	.	1588	Q6PRD1	GP179_HUMAN	T	1588	ENSP00000345060:A1588T	ENSP00000345060:A1588T	A	-	1	0	GPR179	33738216	0.000000	0.05858	0.008000	0.14137	0.259000	0.26198	0.618000	0.24373	1.089000	0.41292	0.313000	0.20887	GCC		0.502	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2				123	274	0	0	0	0.01441	0	123	274		
EIF1	10209	broad.mit.edu	37	17	39846394	39846394	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr17:39846394C>T	ENST00000469257.1	+	3	396	c.250C>T	c.(250-252)Cag>Tag	p.Q84*	EIF1_ENST00000310837.4_3'UTR|JUP_ENST00000540235.1_Intron|EIF1_ENST00000591776.1_Nonsense_Mutation_p.Q84*			P41567	EIF1_HUMAN	eukaryotic translation initiation factor 1	84					dosage compensation by inactivation of X chromosome (GO:0009048)|regulation of translational initiation (GO:0006446)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|skin(1)	5		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			AGAAGTAATTCAGCTACAGGG	0.458																																					Pancreas(176;1692 2837 16734 17588)	uc002hxj.2		NaN																	0					0						c.(250-252)CAG>TAG		eukaryotic translation initiation factor 1							179.0	148.0	159.0					17																	39846394		2203	4300	6503	SO:0001587	stop_gained	10209				regulation of translational initiation|response to stress	cytoplasm	translation initiation factor activity	g.chr17:39846394C>T	AF083441	CCDS11403.1	17q21.2	2006-02-02			ENSG00000173812	ENSG00000173812			3249	protein-coding gene	gene with protein product						7904817, 10347211	Standard	NM_005801		Approved	EIF-1, ISO1, A121, SUI1, EIF1A	uc002hxj.3	P41567	OTTHUMG00000133492	ENST00000469257.1:c.250C>T	17.37:g.39846394C>T	ENSP00000419449:p.Gln84*					JUP_uc010wfs.1_Intron|EIF1_uc002hxk.2_RNA	p.Q84*	NM_005801	NP_005792	P41567	EIF1_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.0677)		3	414	+		Breast(137;0.000307)	84					Q9UNQ9	Nonsense_Mutation	SNP	ENST00000469257.1	37	c.250C>T	CCDS11403.1	.	.	.	.	.	.	.	.	.	.	C	37	6.605568	0.97701	.	.	ENSG00000173812	ENST00000469257	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	1.242	19.1686	0.93567	0.0:1.0:0.0:0.0	.	.	.	.	X	84	.	ENSP00000419449:Q84X	Q	+	1	0	EIF1	37099920	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.625000	0.83145	2.770000	0.95276	0.655000	0.94253	CAG		0.458	EIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257390.1		NM_005801		15	108	0	0	0	0.007413	0	15	108		
HAP1	9001	broad.mit.edu	37	17	39883363	39883363	+	Nonsense_Mutation	SNP	C	C	A	rs376650931		TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr17:39883363C>A	ENST00000310778.5	-	10	1474	c.1465G>T	c.(1465-1467)Gag>Tag	p.E489*	HAP1_ENST00000341193.5_Nonsense_Mutation_p.E420*|HAP1_ENST00000347901.4_Nonsense_Mutation_p.E437*|HAP1_ENST00000393939.2_Nonsense_Mutation_p.E412*|JUP_ENST00000540235.1_Intron			P54257	HAP1_HUMAN	huntingtin-associated protein 1	489	Glu-rich.				anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CTGAGCTCCTCAGCCAGCGTC	0.577																																						uc002hxm.1		NaN																	0				ovary(2)	2						c.(1465-1467)GAG>TAG		huntingtin-associated protein 1 isoform 2							33.0	34.0	34.0					17																	39883363		2203	4300	6503	SO:0001587	stop_gained	9001				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding	g.chr17:39883363C>A	AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"""neuroan 1"""	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.1465G>T	17.37:g.39883363C>A	ENSP00000309392:p.Glu489*					JUP_uc010wfs.1_Intron|HAP1_uc002hxn.1_Nonsense_Mutation_p.E437*|HAP1_uc002hxo.1_Nonsense_Mutation_p.E420*|HAP1_uc002hxp.1_Nonsense_Mutation_p.E412*	p.E489*	NM_177977	NP_817084	P54257	HAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.0677)		10	1477	-		Breast(137;0.000162)	489			Glu-rich.		A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Nonsense_Mutation	SNP	ENST00000310778.5	37	c.1465G>T		.	.	.	.	.	.	.	.	.	.	C	22.7	4.325339	0.81580	.	.	ENSG00000173805	ENST00000393939;ENST00000310778;ENST00000347901;ENST00000341193	.	.	.	3.61	2.62	0.31277	.	0.427086	0.17424	N	0.174715	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-9.4368	7.4863	0.27435	0.0:0.8721:0.0:0.1279	.	.	.	.	X	412;489;437;420	.	ENSP00000309392:E489X	E	-	1	0	HAP1	37136889	0.932000	0.31603	0.746000	0.31095	0.129000	0.20672	0.549000	0.23329	0.812000	0.34326	0.561000	0.74099	GAG		0.577	HAP1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389619.1		NM_003949		3	10	1	0	0.004672	0.004672	0.004741	3	10		
GPATCH8	23131	broad.mit.edu	37	17	42475934	42475934	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr17:42475934C>T	ENST00000591680.1	-	8	3541	c.3511G>A	c.(3511-3513)Gag>Aag	p.E1171K	GPATCH8_ENST00000434000.1_Missense_Mutation_p.E1093K	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1171							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TGTTCTTGCTCTTCCCCCCTT	0.517																																						uc002igw.1		NaN																	0				ovary(2)|kidney(1)|skin(1)	4						c.(3511-3513)GAG>AAG		G patch domain containing 8							98.0	109.0	105.0					17																	42475934		2202	4300	6502	SO:0001583	missense	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42475934C>T	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.3511G>A	17.37:g.42475934C>T	ENSP00000467556:p.Glu1171Lys					GPATCH8_uc002igv.1_Missense_Mutation_p.E1093K|GPATCH8_uc010wiz.1_Missense_Mutation_p.E1093K	p.E1171K	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	8	3575	-		Prostate(33;0.0181)	1171					B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	ENST00000591680.1	37	c.3511G>A	CCDS32666.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.057542	0.55325	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.13901	2.55	4.69	4.69	0.59074	.	0.055638	0.64402	D	0.000001	T	0.12305	0.0299	N	0.24115	0.695	0.40447	D	0.980109	B	0.20887	0.049	B	0.19148	0.024	T	0.10314	-1.0635	10	0.72032	D	0.01	-14.5616	18.1809	0.89777	0.0:1.0:0.0:0.0	.	1171	Q9UKJ3	GPTC8_HUMAN	K	1171;1093	ENSP00000395016:E1093K	ENSP00000335486:E1171K	E	-	1	0	GPATCH8	39831460	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.150000	0.64869	2.602000	0.87976	0.650000	0.86243	GAG		0.517	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1		NM_001002909		37	194	0	0	0	0.023175	0	37	194		
SP2	6668	broad.mit.edu	37	17	45993797	45993797	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr17:45993797C>T	ENST00000376741.4	+	3	497	c.360C>T	c.(358-360)atC>atT	p.I120I	AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000433001.1_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	120					cardiovascular system development (GO:0072358)|embryonic organ development (GO:0048568)|fibroblast proliferation (GO:0048144)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						CCACCATGATCAACAAAGGGA	0.507																																						uc002imk.2		NaN																	0					0						c.(358-360)ATC>ATT		Sp2 transcription factor							130.0	119.0	123.0					17																	45993797		2203	4300	6503	SO:0001819	synonymous_variant	6668				immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding	g.chr17:45993797C>T		CCDS11521.2	17q21.3-q22	2013-01-08			ENSG00000167182	ENSG00000167182		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11207	protein-coding gene	gene with protein product		601801				1341900, 9730617	Standard	NM_003110		Approved	KIAA0048	uc002imk.3	Q02086	OTTHUMG00000150196	ENST00000376741.4:c.360C>T	17.37:g.45993797C>T						SP2_uc002iml.2_Silent_p.I113I|uc002imm.2_Intron	p.I120I	NM_003110	NP_003101	Q02086	SP2_HUMAN			3	497	+			120					A6NK74	Silent	SNP	ENST00000376741.4	37	c.360C>T	CCDS11521.2																																																																																				0.507	SP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316777.1		NM_003110		31	99	0	0	0	0.012213	0	31	99		
TTLL6	284076	broad.mit.edu	37	17	46865191	46865191	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr17:46865191G>T	ENST00000393382.3	-	11	1712	c.1571C>A	c.(1570-1572)gCt>gAt	p.A524D	TTLL6_ENST00000433608.2_Missense_Mutation_p.A217D	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CTCCTCCCGAGCCCTGGAAGC	0.532																																						uc010wlo.1		NaN																	0					0						c.(1570-1572)GCT>GAT		tubulin tyrosine ligase-like family, member 6							96.0	97.0	97.0					17																	46865191		2203	4300	6503	SO:0001583	missense	284076					cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr17:46865191G>T	AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"""Tubulin tyrosine ligase-like family"""	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.1571C>A	17.37:g.46865191G>T	ENSP00000377043:p.Ala524Asp					TTLL6_uc002iob.2_Missense_Mutation_p.A217D|TTLL6_uc010dbi.2_RNA|TTLL6_uc002ioc.2_Missense_Mutation_p.A277D|TTLL6_uc002iod.2_Missense_Mutation_p.A371D	p.A524D	NM_001130918	NP_001124390	Q8N841	TTLL6_HUMAN			12	1606	-			476						Missense_Mutation	SNP	ENST00000393382.3	37	c.1571C>A	CCDS45724.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.201927	0.79127	.	.	ENSG00000170703	ENST00000440941;ENST00000305326;ENST00000433608;ENST00000393382	T	0.04083	3.71	5.38	5.38	0.77491	.	696.152000	0.00166	U	0.000006	T	0.26557	0.0649	L	0.57536	1.79	0.53005	D	0.999969	P;B;D	0.89917	0.654;0.218;1.0	B;B;D	0.97110	0.235;0.167;1.0	T	0.00280	-1.1852	10	0.87932	D	0	.	18.3115	0.90201	0.0:0.0:1.0:0.0	.	476;277;217	Q8N841;D3DTW0;G5E937	TTLL6_HUMAN;.;.	D	524;217;202;476	ENSP00000377043:A476D	ENSP00000302547:A217D	A	-	2	0	TTLL6	44220190	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	9.381000	0.97205	2.694000	0.91930	0.555000	0.69702	GCT		0.532	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3		NM_173623		20	144	1	0	1.50039e-11	0.012319	1.59665e-11	20	144		
ANKFN1	162282	broad.mit.edu	37	17	54450093	54450093	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr17:54450093G>C	ENST00000318698.2	+	6	732	c.697G>C	c.(697-699)Gag>Cag	p.E233Q	ANKFN1_ENST00000566473.2_Missense_Mutation_p.E233Q	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	233										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						TGCCCAGGTGGAGAATGAAGG	0.512																																						uc002iun.1		NaN																	0				large_intestine(1)|ovary(1)	2						c.(697-699)GAG>CAG		ankyrin-repeat and fibronectin type III domain							168.0	156.0	160.0					17																	54450093		2203	4300	6503	SO:0001583	missense	162282							g.chr17:54450093G>C	AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.697G>C	17.37:g.54450093G>C	ENSP00000321627:p.Glu233Gln						p.E233Q	NM_153228	NP_694960	Q8N957	ANKF1_HUMAN			6	732	+			233			Potential.			Missense_Mutation	SNP	ENST00000318698.2	37	c.697G>C	CCDS32686.1	.	.	.	.	.	.	.	.	.	.	G	4.630	0.117035	0.08881	.	.	ENSG00000153930	ENST00000318698	T	0.23147	1.92	5.78	4.8	0.61643	.	0.416594	0.28983	N	0.013511	T	0.12433	0.0302	N	0.12182	0.205	0.23916	N	0.996475	B	0.06786	0.001	B	0.04013	0.001	T	0.28170	-1.0052	10	0.13853	T	0.58	-8.5058	8.2637	0.31801	0.1119:0.2812:0.6069:0.0	.	233	Q8N957	ANKF1_HUMAN	Q	233	ENSP00000321627:E233Q	ENSP00000321627:E233Q	E	+	1	0	ANKFN1	51805092	1.000000	0.71417	1.000000	0.80357	0.581000	0.36288	1.418000	0.34782	1.427000	0.47276	0.563000	0.77884	GAG		0.512	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1		NM_153228		32	130	0	0	0	0.008361	0	32	130		
PRR11	55771	broad.mit.edu	37	17	57262920	57262920	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr17:57262920G>A	ENST00000262293.4	+	4	711	c.399G>A	c.(397-399)ctG>ctA	p.L133L		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	133						cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					AGGAAGCACTGAAGGTTGGTA	0.363																																						uc002ixf.1		NaN																	0				ovary(2)	2						c.(397-399)CTG>CTA		proline rich 11							60.0	61.0	61.0					17																	57262920		2203	4300	6503	SO:0001819	synonymous_variant	55771							g.chr17:57262920G>A		CCDS11614.1	17q23.2	2005-12-13				ENSG00000068489			25619	protein-coding gene	gene with protein product		615920				11799066	Standard	NM_018304		Approved	FLJ11029	uc002ixf.2	Q96HE9		ENST00000262293.4:c.399G>A	17.37:g.57262920G>A						PRR11_uc002ixg.1_RNA	p.L133L	NM_018304	NP_060774	Q96HE9	PRR11_HUMAN			4	478	+	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		133					Q9NUZ7|Q9NXE9	Silent	SNP	ENST00000262293.4	37	c.399G>A	CCDS11614.1																																																																																				0.363	PRR11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445949.1		NM_018304		14	65	0	0	0	0.020292	0	14	65		
DHX40	79665	broad.mit.edu	37	17	57684430	57684430	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr17:57684430G>C	ENST00000251241.4	+	18	2384	c.2237G>C	c.(2236-2238)aGa>aCa	p.R746T	DHX40_ENST00000425628.3_Missense_Mutation_p.R669T|DHX40_ENST00000451169.2_Missense_Mutation_p.R698T	NM_024612.4	NP_078888.4	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	746							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					AAAATGCAAAGAAGAAATGAT	0.388																																						uc002ixn.1		NaN																	0					0						c.(2236-2238)AGA>ACA		DEAH (Asp-Glu-Ala-His) box polypeptide 40							102.0	105.0	104.0					17																	57684430		2203	4300	6503	SO:0001583	missense	79665						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr17:57684430G>C	AF260270	CCDS11617.1, CCDS54150.1	17q22	2014-01-28	2003-06-13	2003-06-20		ENSG00000108406		"""DEAH-boxes"""	18018	protein-coding gene	gene with protein product		607570	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 40 (RNA helicase)"""	DDX40			Standard	NM_024612		Approved	ARG147, PAD, FLJ22060	uc002ixn.2	Q8IX18		ENST00000251241.4:c.2237G>C	17.37:g.57684430G>C	ENSP00000251241:p.Arg746Thr					DHX40_uc010woe.1_Missense_Mutation_p.R669T|DHX40_uc010wof.1_Missense_Mutation_p.R261T	p.R746T	NM_024612	NP_078888	Q8IX18	DHX40_HUMAN			18	2384	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		746					B3KTJ5|C9JR60|Q5JPH4|Q8TC86|Q8WY53|Q9BXM1|Q9H6M9	Missense_Mutation	SNP	ENST00000251241.4	37	c.2237G>C	CCDS11617.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.689969	0.48097	.	.	ENSG00000108406	ENST00000251241;ENST00000538926;ENST00000451169	T;T	0.04156	4.05;3.69	5.88	4.92	0.64577	.	0.102570	0.64402	D	0.000002	T	0.04227	0.0117	N	0.14661	0.345	0.38691	D	0.95277	P;P	0.46784	0.884;0.651	P;B	0.44359	0.447;0.15	T	0.52117	-0.8618	10	0.54805	T	0.06	.	9.3045	0.37867	0.2207:0.0:0.7793:0.0	.	669;746	F5H625;Q8IX18	.;DHX40_HUMAN	T	746;669;698	ENSP00000251241:R746T;ENSP00000396039:R698T	ENSP00000251241:R746T	R	+	2	0	DHX40	55039212	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.696000	0.54757	1.503000	0.48686	0.561000	0.74099	AGA		0.388	DHX40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446095.1		NM_024612		19	79	0	0	0	0.007413	0	19	79		
KCNH6	81033	broad.mit.edu	37	17	61615899	61615899	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr17:61615899C>G	ENST00000583023.1	+	8	1841	c.1830C>G	c.(1828-1830)ttC>ttG	p.F610L	KCNH6_ENST00000581784.1_Missense_Mutation_p.F557L|KCNH6_ENST00000456941.2_Missense_Mutation_p.F557L|KCNH6_ENST00000314672.5_Missense_Mutation_p.F610L	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	610					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)	CCGTCAAGTTCAAGACCACCC	0.677																																						uc002jay.2		NaN																	0				skin(1)	1						c.(1828-1830)TTC>TTG		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)						22.0	20.0	21.0					17																	61615899		2200	4299	6499	SO:0001583	missense	81033				regulation of transcription, DNA-dependent|signal transduction			g.chr17:61615899C>G	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.1830C>G	17.37:g.61615899C>G	ENSP00000463533:p.Phe610Leu					KCNH6_uc010wpl.1_Missense_Mutation_p.F487L|KCNH6_uc010wpm.1_Missense_Mutation_p.F610L|KCNH6_uc002jaz.1_Missense_Mutation_p.F557L	p.F610L	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN			8	1910	+			610			cNMP.|Cytoplasmic (Potential).		Q9BRD7	Missense_Mutation	SNP	ENST00000583023.1	37	c.1830C>G	CCDS11638.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.024267	0.75390	.	.	ENSG00000173826	ENST00000314672;ENST00000456941	D;D	0.95980	-3.87;-3.87	3.97	3.97	0.46021	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.058481	0.64402	D	0.000001	D	0.95809	0.8636	L	0.58101	1.795	0.53688	D	0.999979	P;B;P;P	0.45957	0.869;0.044;0.571;0.55	P;B;B;B	0.52909	0.713;0.109;0.199;0.241	D	0.95544	0.8615	10	0.44086	T	0.13	.	16.2244	0.82284	0.0:1.0:0.0:0.0	.	487;610;557;610	B4DPJ3;B4DKC0;Q9H252-2;Q9H252	.;.;.;KCNH6_HUMAN	L	610;557	ENSP00000318212:F610L;ENSP00000396900:F557L	ENSP00000318212:F610L	F	+	3	2	KCNH6	58969631	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	3.719000	0.54926	2.040000	0.60383	0.491000	0.48974	TTC		0.677	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1		NM_030779		10	9	0	0	0	0.006214	0	10	9		
STRADA	92335	broad.mit.edu	37	17	61784042	61784042	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr17:61784042C>T	ENST00000336174.6	-	10	923	c.811G>A	c.(811-813)Gaa>Aaa	p.E271K	RP11-51F16.8_ENST00000580553.1_3'UTR|STRADA_ENST00000580039.1_5'UTR|STRADA_ENST00000375840.4_Missense_Mutation_p.E213K|STRADA_ENST00000579340.1_Silent_p.V155V|STRADA_ENST00000447001.3_Missense_Mutation_p.E227K|STRADA_ENST00000582137.1_Missense_Mutation_p.E242K|STRADA_ENST00000392950.4_Missense_Mutation_p.E234K|STRADA_ENST00000245865.5_Missense_Mutation_p.E210K	NM_001003787.2	NP_001003787.1	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	271	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)|protein export from nucleus (GO:0006611)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase binding (GO:0019900)|protein kinase activator activity (GO:0030295)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						TTGGCCAGTTCACAGGCTGTG	0.512																																						uc002jbm.2		NaN																	0				ovary(1)	1						c.(811-813)GAA>AAA		STE20-related kinase adaptor alpha isoform 1							170.0	158.0	162.0					17																	61784042		2203	4300	6503	SO:0001583	missense	92335				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity	g.chr17:61784042C>T	AF308302	CCDS11642.1, CCDS32703.1, CCDS42367.1, CCDS54156.1, CCDS58585.1	17q23.3	2014-09-04			ENSG00000266173	ENSG00000266173			30172	protein-coding gene	gene with protein product	"""STE20-like pseudokinase"""	608626				12805220, 17921699	Standard	NM_153335		Approved	NY-BR-96, LYK5, Stlk, STRAD	uc002jbm.3	Q7RTN6	OTTHUMG00000178908	ENST00000336174.6:c.811G>A	17.37:g.61784042C>T	ENSP00000336655:p.Glu271Lys					STRADA_uc002jbn.2_Missense_Mutation_p.E213K|STRADA_uc002jbo.2_Missense_Mutation_p.E234K|STRADA_uc002jbp.2_Missense_Mutation_p.E234K|STRADA_uc002jbq.2_Missense_Mutation_p.E213K|STRADA_uc010wpq.1_Missense_Mutation_p.E227K|STRADA_uc010wpr.1_Missense_Mutation_p.E242K|STRADA_uc010ddw.2_Missense_Mutation_p.E242K|STRADA_uc002jbr.2_Missense_Mutation_p.E210K	p.E271K	NM_001003787	NP_001003787	Q7RTN6	STRAA_HUMAN			10	970	-			271			Protein kinase.		B4DDE3|B4DW17|J3KTC9|Q5JPI2|Q7Z4K9|Q8NC31|Q8NCF1|Q9H272	Missense_Mutation	SNP	ENST00000336174.6	37	c.811G>A	CCDS32703.1	.	.	.	.	.	.	.	.	.	.	C	36	5.625461	0.96671	.	.	ENSG00000125695	ENST00000336174;ENST00000375840;ENST00000447001;ENST00000392950;ENST00000245865	T;T;T;T	0.80566	-1.39;-1.39;-1.39;1.24	5.0	5.0	0.66597	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92519	0.7624	M	0.94021	3.485	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;0.998;1.0;0.998;0.997;0.999	D	0.94256	0.7498	10	0.87932	D	0	.	18.4946	0.90860	0.0:1.0:0.0:0.0	.	242;227;213;210;234;234;271	B4DW17;B4DDE3;Q5JPI2;Q86YC8;Q7RTN6-2;Q7RTN6-3;Q7RTN6	.;.;.;.;.;.;STRAA_HUMAN	K	271;213;227;234;233	ENSP00000336655:E271K;ENSP00000365000:E213K;ENSP00000398841:E227K;ENSP00000376677:E234K	ENSP00000245865:E233K	E	-	1	0	STRADA	59137774	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.320000	0.79064	2.596000	0.87737	0.561000	0.74099	GAA		0.512	STRADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443894.1				39	203	0	0	0	0.00874	0	39	203		
CACNG4	27092	broad.mit.edu	37	17	64961111	64961111	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr17:64961111C>T	ENST00000262138.3	+	1	86	c.84C>T	c.(82-84)atC>atT	p.I28I		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	28					membrane depolarization (GO:0051899)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.I28I(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			CCATCGCCATCGGCACCGACT	0.697																																						uc002jft.1		NaN																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(82-84)ATC>ATT		voltage-dependent calcium channel gamma-4							32.0	28.0	29.0					17																	64961111		2201	4299	6500	SO:0001819	synonymous_variant	27092				membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity	g.chr17:64961111C>T	AH008289	CCDS11667.1	17q24	2006-01-23				ENSG00000075461		"""Calcium channel subunits"""	1408	protein-coding gene	gene with protein product		606404				10613843	Standard	NM_014405		Approved	MGC11138, MGC24983	uc002jft.2	Q9UBN1		ENST00000262138.3:c.84C>T	17.37:g.64961111C>T							p.I28I	NM_014405	NP_055220	Q9UBN1	CCG4_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.35e-07)		1	99	+	all_cancers(12;9.86e-11)		28			Helical; (Potential).		B2RCK0	Silent	SNP	ENST00000262138.3	37	c.84C>T	CCDS11667.1																																																																																				0.697	CACNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447036.1		NM_014405		8	21	0	0	0	0.006214	0	8	21		
NOL11	25926	broad.mit.edu	37	17	65733721	65733721	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr17:65733721G>T	ENST00000253247.4	+	12	1431	c.1316G>T	c.(1315-1317)gGa>gTa	p.G439V	NOL11_ENST00000535137.1_Missense_Mutation_p.G257V	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	439					maturation of SSU-rRNA (GO:0030490)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			ACAGTAACAGGACTTCTGGAA	0.423																																						uc002jgd.1		NaN																	0					0						c.(1315-1317)GGA>GTA		nucleolar protein 11							139.0	130.0	133.0					17																	65733721		2203	4300	6503	SO:0001583	missense	25926					nucleolus		g.chr17:65733721G>T	AK023702	CCDS11671.1	17q24.2	2005-08-08							24557	protein-coding gene	gene with protein product		615366				12477932	Standard	NM_015462		Approved	DKFZP586L0724	uc002jgd.1	Q9H8H0		ENST00000253247.4:c.1316G>T	17.37:g.65733721G>T	ENSP00000253247:p.Gly439Val					NOL11_uc010wql.1_Missense_Mutation_p.G257V|NOL11_uc010deu.1_Missense_Mutation_p.G34V	p.G439V	NM_015462	NP_056277	Q9H8H0	NOL11_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)		12	1319	+	all_cancers(12;1.54e-10)		439					B7Z5V9|Q7L5S1|Q9UG18	Missense_Mutation	SNP	ENST00000253247.4	37	c.1316G>T	CCDS11671.1	.	.	.	.	.	.	.	.	.	.	G	5.891	0.348596	0.11126	.	.	ENSG00000130935	ENST00000253247;ENST00000535137	T	0.42131	0.98	4.87	2.84	0.33178	.	0.536707	0.20326	N	0.094538	T	0.30978	0.0782	L	0.50333	1.59	0.32563	N	0.530854	P	0.43477	0.808	B	0.36719	0.231	T	0.43278	-0.9401	10	0.37606	T	0.19	-8.1229	7.3683	0.26787	0.1695:0.1436:0.6869:0.0	.	439	Q9H8H0	NOL11_HUMAN	V	439;257	ENSP00000253247:G439V	ENSP00000253247:G439V	G	+	2	0	NOL11	63164183	0.020000	0.18652	0.874000	0.34290	0.527000	0.34593	0.160000	0.16462	1.160000	0.42584	0.655000	0.94253	GGA		0.423	NOL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448074.1		NM_015462		85	175	1	0	1.3466e-33	0.01441	1.49588e-33	85	175		
BPTF	2186	broad.mit.edu	37	17	65908180	65908180	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr17:65908180G>C	ENST00000321892.4	+	13	4619	c.4558G>C	c.(4558-4560)Gag>Cag	p.E1520Q	BPTF_ENST00000335221.5_Missense_Mutation_p.E1520Q|BPTF_ENST00000424123.3_Missense_Mutation_p.E1381Q|BPTF_ENST00000306378.6_Missense_Mutation_p.E1394Q			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1520					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGAAAATCGAGAGTCTGAAAA	0.299																																						uc002jgf.2		NaN																	0				ovary(2)|skin(2)	4						c.(4180-4182)GAG>CAG		bromodomain PHD finger transcription factor							39.0	42.0	41.0					17																	65908180		2202	4300	6502	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65908180G>C	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.4558G>C	17.37:g.65908180G>C	ENSP00000315454:p.Glu1520Gln					BPTF_uc002jge.2_Missense_Mutation_p.E1520Q	p.E1394Q	NM_182641	NP_872579	Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		11	4241	+	all_cancers(12;6e-11)		1520					Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.4180G>C		.	.	.	.	.	.	.	.	.	.	G	12.76	2.034516	0.35893	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.66815	-0.22;-0.23;-0.23	5.26	5.26	0.73747	.	.	.	.	.	T	0.69878	0.3160	L	0.29908	0.895	0.34152	D	0.66769	D;D	0.71674	0.998;0.961	D;P	0.63033	0.91;0.756	T	0.78046	-0.2357	9	0.66056	D	0.02	-14.183	12.2535	0.54611	0.0778:0.0:0.9222:0.0	.	1394;1520	Q12830-2;Q12830-4	.;.	Q	1394;1520;1520	ENSP00000307208:E1394Q;ENSP00000334351:E1520Q;ENSP00000315454:E1520Q	ENSP00000307208:E1394Q	E	+	1	0	BPTF	63338642	1.000000	0.71417	0.992000	0.48379	0.946000	0.59487	3.705000	0.54823	2.453000	0.82957	0.650000	0.86243	GAG		0.299	BPTF-201	KNOWN	basic	protein_coding	protein_coding			NM_182641, NM_004459		23	71	0	0	0	0.014323	0	23	71		
METTL4	64863	broad.mit.edu	37	18	2544739	2544739	+	Missense_Mutation	SNP	A	A	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr18:2544739A>C	ENST00000574538.1	-	7	1869	c.1094T>G	c.(1093-1095)tTt>tGt	p.F365C	METTL4_ENST00000319888.6_Missense_Mutation_p.F365C	NM_022840.3	NP_073751.3	Q8N3J2	METL4_HUMAN	methyltransferase like 4	365					nucleobase-containing compound metabolic process (GO:0006139)		methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						TGGGAACACAAATTCTCCTGA	0.403																																						uc002klh.3		NaN																	0				kidney(1)|skin(1)	2						c.(1093-1095)TTT>TGT		methyltransferase like 4							97.0	93.0	94.0					18																	2544739		2203	4300	6503	SO:0001583	missense	64863				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding	g.chr18:2544739A>C		CCDS11826.1	18p11.31	2008-02-05			ENSG00000101574	ENSG00000101574			24726	protein-coding gene	gene with protein product						12477932	Standard	NM_022840		Approved	FLJ23017, HsT661	uc002klh.4	Q8N3J2	OTTHUMG00000131482	ENST00000574538.1:c.1094T>G	18.37:g.2544739A>C	ENSP00000458290:p.Phe365Cys					METTL4_uc010dkj.2_Intron	p.F365C	NM_022840	NP_073751	Q8N3J2	METL4_HUMAN			7	1874	-			365					B2RNA1|Q2TAA7|Q9H5U9	Missense_Mutation	SNP	ENST00000574538.1	37	c.1094T>G	CCDS11826.1	.	.	.	.	.	.	.	.	.	.	A	18.27	3.587544	0.66105	.	.	ENSG00000101574	ENST00000319888	T	0.42131	0.98	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.62998	0.2474	M	0.76002	2.32	0.53688	D	0.999971	D	0.89917	1.0	D	0.85130	0.997	T	0.64279	-0.6445	10	0.41790	T	0.15	-19.123	13.4186	0.60982	1.0:0.0:0.0:0.0	.	365	Q8N3J2	METL4_HUMAN	C	365	ENSP00000320349:F365C	ENSP00000320349:F365C	F	-	2	0	METTL4	2534739	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.946000	0.56644	1.814000	0.52955	0.482000	0.46254	TTT		0.403	METTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254326.3		NM_022840		22	82	0	0	0	0.021523	0	22	82		
LAMA3	3909	broad.mit.edu	37	18	21485566	21485566	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr18:21485566G>A	ENST00000313654.9	+	52	6937	c.6696G>A	c.(6694-6696)atG>atA	p.M2232I	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000269217.6_Missense_Mutation_p.M623I|LAMA3_ENST00000587184.1_Missense_Mutation_p.M567I|LAMA3_ENST00000399516.3_Missense_Mutation_p.M2176I	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2232	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					AAGCCAAGATGACACAAAAGA	0.448																																						uc002kuq.2		NaN																	0				ovary(8)|skin(2)|central_nervous_system(1)	11						c.(6694-6696)ATG>ATA		laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						102.0	95.0	98.0					18																	21485566		2203	4300	6503	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21485566G>A	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.6696G>A	18.37:g.21485566G>A	ENSP00000324532:p.Met2232Ile					LAMA3_uc002kur.2_Missense_Mutation_p.M2176I|LAMA3_uc002kus.3_Missense_Mutation_p.M623I|LAMA3_uc002kut.3_Missense_Mutation_p.M567I	p.M2232I	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			52	6782	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		2232			Domain II and I.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.6696G>A	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	8.863	0.947355	0.18356	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.21361	2.29;2.27;2.01	5.0	-3.8	0.04307	.	.	.	.	.	T	0.07098	0.0180	N	0.04043	-0.29	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.32241	-0.9914	9	0.37606	T	0.19	.	2.5869	0.04832	0.2836:0.2315:0.3712:0.1137	.	567;623;2176;2232	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	I	2232;2176;623	ENSP00000324532:M2232I;ENSP00000382432:M2176I;ENSP00000269217:M623I	ENSP00000269217:M623I	M	+	3	0	LAMA3	19739564	0.000000	0.05858	0.391000	0.26233	0.728000	0.41692	-0.935000	0.03950	-0.194000	0.10399	-1.271000	0.01417	ATG		0.448	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3		NM_000227, NM_198129		44	98	0	0	0	0.010771	0	44	98		
CDH2	1000	broad.mit.edu	37	18	25593832	25593832	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr18:25593832C>G	ENST00000269141.3	-	3	637	c.214G>C	c.(214-216)Gag>Cag	p.E72Q	CDH2_ENST00000399380.3_Missense_Mutation_p.E41Q	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	72					adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TCACTGCTCTCATATTGTACT	0.368																																						uc002kwg.2		NaN																	0				ovary(3)|lung(1)	4						c.(214-216)GAG>CAG		cadherin 2, type 1 preproprotein							154.0	132.0	139.0					18																	25593832		2203	4300	6503	SO:0001583	missense	1000				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	g.chr18:25593832C>G	S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.214G>C	18.37:g.25593832C>G	ENSP00000269141:p.Glu72Gln					CDH2_uc010xbn.1_Missense_Mutation_p.E41Q	p.E72Q	NM_001792	NP_001783	P19022	CADH2_HUMAN			3	673	-			72					A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	c.214G>C	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.037193	0.54896	.	.	ENSG00000170558	ENST00000269141;ENST00000399380;ENST00000418492	T;T;T	0.48522	0.81;0.81;0.81	5.55	5.55	0.83447	Cadherin prodomain-like (1);Cadherin-like (1);	0.155915	0.56097	D	0.000023	T	0.43765	0.1262	L	0.43152	1.355	0.40681	D	0.982302	B;B	0.18863	0.006;0.031	B;B	0.23716	0.024;0.048	T	0.32640	-0.9899	10	0.15499	T	0.54	.	19.4929	0.95059	0.0:1.0:0.0:0.0	.	41;72	A8MWK3;P19022	.;CADH2_HUMAN	Q	72;41;21	ENSP00000269141:E72Q;ENSP00000382312:E41Q;ENSP00000411360:E21Q	ENSP00000269141:E72Q	E	-	1	0	CDH2	23847830	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	3.799000	0.55529	2.616000	0.88540	0.585000	0.79938	GAG		0.368	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3		NM_001792		29	69	0	0	0	0.00632	0	29	69		
PIK3C3	5289	broad.mit.edu	37	18	39584503	39584503	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr18:39584503G>A	ENST00000262039.4	+	10	1254	c.1168G>A	c.(1168-1170)Gag>Aag	p.E390K	PIK3C3_ENST00000398870.3_Missense_Mutation_p.E327K	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	390	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|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)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						GGCCGATGATGAGGTGCATTA	0.443										TSP Lung(28;0.18)																											NSCLC(37;552 1060 2683 16430 37914)	uc002lap.2		NaN																	0				lung(8)|ovary(1)|breast(1)	10						c.(1168-1170)GAG>AAG		catalytic phosphatidylinositol 3-kinase 3							87.0	75.0	79.0					18																	39584503		2203	4300	6503	SO:0001583	missense	5289				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding	g.chr18:39584503G>A	Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"""phosphoinositide-3-kinase, class 3"""			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.1168G>A	18.37:g.39584503G>A	ENSP00000262039:p.Glu390Lys	TSP Lung(28;0.18)				PIK3C3_uc010xcl.1_Missense_Mutation_p.E327K	p.E390K	NM_002647	NP_002638	Q8NEB9	PK3C3_HUMAN			10	1226	+			390					Q15134	Missense_Mutation	SNP	ENST00000262039.4	37	c.1168G>A	CCDS11920.1	.	.	.	.	.	.	.	.	.	.	G	34	5.328212	0.95733	.	.	ENSG00000078142	ENST00000262039;ENST00000398870	T;T	0.67523	-0.27;-0.27	5.55	5.55	0.83447	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74756	0.3758	M	0.67569	2.06	0.80722	D	1	P;P	0.41232	0.743;0.743	P;P	0.48454	0.578;0.578	T	0.72693	-0.4216	9	.	.	.	.	19.4998	0.95089	0.0:0.0:1.0:0.0	.	327;390	A8MYT4;Q8NEB9	.;PK3C3_HUMAN	K	390;327	ENSP00000262039:E390K;ENSP00000381845:E327K	.	E	+	1	0	PIK3C3	37838501	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.843000	0.99491	2.636000	0.89361	0.655000	0.94253	GAG		0.443	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1		NM_002647		7	32	0	0	0	0.001984	0	7	32		
RNF165	494470	broad.mit.edu	37	18	44030341	44030341	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr18:44030341C>T	ENST00000269439.7	+	5	749	c.698C>T	c.(697-699)tCc>tTc	p.S233F	RNF165_ENST00000543885.1_Missense_Mutation_p.S41F	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165	233							zinc ion binding (GO:0008270)			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		AGACACACCTCCGCCGTACGG	0.517																																						uc002lcb.1		NaN																	0					0						c.(697-699)TCC>TTC		ring finger protein 165							96.0	86.0	89.0					18																	44030341		2203	4300	6503	SO:0001583	missense	494470						zinc ion binding	g.chr18:44030341C>T	BC012190	CCDS32823.1, CCDS58621.1	18q21.1	2014-01-03			ENSG00000141622	ENSG00000141622		"""RING-type (C3HC4) zinc fingers"""	31696	protein-coding gene	gene with protein product							Standard	NR_046357		Approved	ARKL2, RNF111L2	uc002lcb.1	Q6ZSG1		ENST00000269439.7:c.698C>T	18.37:g.44030341C>T	ENSP00000269439:p.Ser233Phe					RNF165_uc002lby.1_Missense_Mutation_p.S166F|RNF165_uc010dnn.1_Missense_Mutation_p.S29F	p.S233F	NM_152470	NP_689683	Q6ZSG1	RN165_HUMAN		READ - Rectum adenocarcinoma(1;0.0873)	5	749	+			233					B3KVD1	Missense_Mutation	SNP	ENST00000269439.7	37	c.698C>T	CCDS32823.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692797	0.88735	.	.	ENSG00000141622	ENST00000269439;ENST00000543885	T;T	0.24350	2.12;1.86	5.28	5.28	0.74379	.	0.133760	0.52532	D	0.000080	T	0.28962	0.0719	L	0.51422	1.61	0.58432	D	0.999998	P	0.36412	0.552	B	0.35039	0.194	T	0.09729	-1.0661	10	0.72032	D	0.01	.	19.277	0.94036	0.0:1.0:0.0:0.0	.	233	Q6ZSG1	RN165_HUMAN	F	233;41	ENSP00000269439:S233F;ENSP00000444285:S41F	ENSP00000269439:S233F	S	+	2	0	RNF165	42284339	1.000000	0.71417	0.989000	0.46669	0.939000	0.58152	7.445000	0.80570	2.647000	0.89833	0.467000	0.42956	TCC		0.517	RNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445358.1		NM_152470		18	87	0	0	0	0.008871	0	18	87		
WDR7	23335	broad.mit.edu	37	18	54688024	54688024	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr18:54688024G>A	ENST00000254442.3	+	27	4424	c.4213G>A	c.(4213-4215)Gat>Aat	p.D1405N	WDR7_ENST00000357574.3_Missense_Mutation_p.D1372N|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1405					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TTTTGCTCCTGATGGAAGATA	0.408																																						uc002lgk.1		NaN																	0				ovary(2)|skin(1)	3						c.(4213-4215)GAT>AAT		rabconnectin-3 beta isoform 1							182.0	155.0	164.0					18																	54688024		2203	4300	6503	SO:0001583	missense	23335							g.chr18:54688024G>A	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.4213G>A	18.37:g.54688024G>A	ENSP00000254442:p.Asp1405Asn					WDR7_uc002lgl.1_Missense_Mutation_p.D1372N	p.D1405N	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	27	4424	+			1405			WD 9.		A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	c.4213G>A	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	G	36	5.750031	0.96890	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000444065;ENST00000398311	T;T	0.68624	-0.34;-0.34	6.17	6.17	0.99709	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.79311	0.4424	L	0.46567	1.45	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.85130	0.995;0.997	T	0.77547	-0.2547	10	0.56958	D	0.05	.	20.4745	0.99168	0.0:0.0:1.0:0.0	.	1372;1405	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	N	1405;1372;730;1372	ENSP00000254442:D1405N;ENSP00000350187:D1372N	ENSP00000254442:D1405N	D	+	1	0	WDR7	52839022	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.693000	0.98684	2.941000	0.99782	0.655000	0.94253	GAT		0.408	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1				34	143	0	0	0	0.023175	0	34	143		
KCNG2	26251	broad.mit.edu	37	18	77659691	77659691	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr18:77659691G>A	ENST00000316249.3	+	2	1276	c.1276G>A	c.(1276-1278)Gag>Aag	p.E426K	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	426					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		GGCCAGCCCCGAGCCGGCCCT	0.706																																						uc010xfl.1		NaN																	0					0						c.(1276-1278)GAG>AAG		potassium voltage-gated channel, subfamily G,							22.0	24.0	23.0					18																	77659691		2200	4300	6500	SO:0001583	missense	26251				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr18:77659691G>A	AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.1276G>A	18.37:g.77659691G>A	ENSP00000315654:p.Glu426Lys						p.E426K	NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)	2	1276	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	426			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000316249.3	37	c.1276G>A	CCDS12019.1	.	.	.	.	.	.	.	.	.	.	G	2.796	-0.250330	0.05867	.	.	ENSG00000178342	ENST00000316249	D	0.97279	-4.32	3.46	2.57	0.30868	.	0.783975	0.11325	U	0.575671	D	0.89563	0.6751	N	0.19112	0.55	0.28486	N	0.914734	B	0.32829	0.386	B	0.17433	0.018	T	0.82845	-0.0256	10	0.11485	T	0.65	.	4.2836	0.10844	0.2343:0.275:0.4906:0.0	.	426	Q9UJ96	KCNG2_HUMAN	K	426	ENSP00000315654:E426K	ENSP00000315654:E426K	E	+	1	0	KCNG2	75760679	1.000000	0.71417	0.812000	0.32479	0.758000	0.43043	2.258000	0.43249	0.678000	0.31325	0.405000	0.27470	GAG		0.706	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1		NM_012283		10	13	0	0	0	0.016723	0	10	13		
SEMA6B	10501	broad.mit.edu	37	19	4548448	4548448	+	Silent	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr19:4548448C>G	ENST00000586582.1	-	13	1591	c.1281G>C	c.(1279-1281)ctG>ctC	p.L427L	SEMA6B_ENST00000301293.3_Silent_p.L427L|SEMA6B_ENST00000586965.1_Silent_p.L427L|RN7SL121P_ENST00000584223.1_RNA	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	427	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACTCGAGTCAGCTGGTGCC	0.652																																						uc010duc.1		NaN																	0				skin(1)	1						c.(1279-1281)CTG>CTC		semaphorin 6B precursor							29.0	31.0	30.0					19																	4548448		2203	4297	6500	SO:0001819	synonymous_variant	10501				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr19:4548448C>G	AB022433	CCDS12131.1	19p13.3	2008-07-22				ENSG00000167680		"""Semaphorins"""	10739	protein-coding gene	gene with protein product	"""Sema VIb"", ""semaphorin Z"", ""semaphorin VIB"""	608873		SEMAN		9361278	Standard	NM_032108		Approved	semaZ, SEMA-VIB, SEM-SEMA-Y	uc010dud.2	Q9H3T3		ENST00000586582.1:c.1281G>C	19.37:g.4548448C>G						SEMA6B_uc010dud.2_Silent_p.L427L|SEMA6B_uc010xih.1_Silent_p.L427L	p.L427L	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	12	1319	-		Hepatocellular(1079;0.137)	427			Extracellular (Potential).|Sema.		A5PKU4|F6IB19|Q9NRK9	Silent	SNP	ENST00000586582.1	37	c.1281G>C	CCDS12131.1																																																																																				0.652	SEMA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458656.2		NM_032108		19	22	0	0	0	0.008871	0	19	22		
C3	718	broad.mit.edu	37	19	6707129	6707129	+	Missense_Mutation	SNP	G	G	A	rs117793540	byFrequency	TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr19:6707129G>A	ENST00000245907.6	-	17	2295	c.2203C>T	c.(2203-2205)Cgg>Tgg	p.R735W		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	735			R -> W (in AHUS5; dbSNP:rs117793540). {ECO:0000269|PubMed:18796626}.		complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	TGCTGCCGCCGCAGCTCTGTG	0.687													G|||	4	0.000798722	0.0	0.0029	5008	,	,		10107	0.0		0.002	False		,,,				2504	0.0					uc002mfm.2		NaN																	0				skin(3)|ovary(1)|pancreas(1)	5						c.(2203-2205)CGG>TGG		complement component 3 precursor		G	TRP/ARG	2,4392		0,2,2195	37.0	36.0	36.0		2203	3.8	0.1	19	dbSNP_133	36	32,8542		0,32,4255	yes	missense	C3	NM_000064.2	101	0,34,6450	AA,AG,GG		0.3732,0.0455,0.2622	probably-damaging	735/1664	6707129	34,12934	2197	4287	6484	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6707129G>A	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2203C>T	19.37:g.6707129G>A	ENSP00000245907:p.Arg735Trp						p.R735W	NM_000064	NP_000055	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	17	2265	-			735		R -> W (in AHUS5).			A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.2203C>T	CCDS32883.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	18.34	3.601922	0.66445	4.55E-4	0.003732	ENSG00000125730	ENST00000245907	T	0.39229	1.09	4.84	3.79	0.43588	Anaphylatoxin (2);	0.130386	0.51477	D	0.000083	T	0.65626	0.2709	M	0.85777	2.775	0.23376	N	0.99781	D	0.89917	1.0	D	0.77004	0.989	T	0.60393	-0.7272	10	0.87932	D	0	.	11.6575	0.51325	0.0:0.0:0.8218:0.1782	.	735	P01024	CO3_HUMAN	W	735	ENSP00000245907:R735W	ENSP00000245907:R735W	R	-	1	2	C3	6658129	0.041000	0.20044	0.083000	0.20561	0.026000	0.11368	0.721000	0.25911	1.010000	0.39314	-0.182000	0.12963	CGG		0.687	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2		NM_000064		13	33	0	0	0	0.016723	0	13	33		
GPR108	56927	broad.mit.edu	37	19	6731089	6731089	+	Missense_Mutation	SNP	C	C	T	rs368640816		TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr19:6731089C>T	ENST00000264080.7	-	17	1494	c.1468G>A	c.(1468-1470)Gtg>Atg	p.V490M	GPR108_ENST00000598626.1_Intron|GPR108_ENST00000430424.4_Missense_Mutation_p.V248M	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	490						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						CCCGTGAGCACGAAGAAGGCC	0.677																																						uc002mfp.2		NaN																	0					0						c.(1468-1470)GTG>ATG		G protein-coupled receptor 108 isoform 1		C	MET/VAL	1,4045		0,1,2022	56.0	62.0	60.0		1468	-0.2	1.0	19		60	0,8336		0,0,4168	no	missense	GPR108	NM_001080452.1	21	0,1,6190	TT,TC,CC		0.0,0.0247,0.0081	probably-damaging	490/544	6731089	1,12381	2023	4168	6191	SO:0001583	missense	56927					integral to membrane		g.chr19:6731089C>T		CCDS42479.1	19p13.3	2014-01-30				ENSG00000125734		"""GPCR / Unclassified : 7TM orphan receptors"""	17829	protein-coding gene	gene with protein product							Standard	NM_001080452		Approved	LUSTR2	uc002mfp.3	Q9NPR9	OTTHUMG00000170129	ENST00000264080.7:c.1468G>A	19.37:g.6731089C>T	ENSP00000264080:p.Val490Met					GPR108_uc010duv.2_Missense_Mutation_p.V41M|GPR108_uc002mfn.2_Missense_Mutation_p.V145M|GPR108_uc002mfo.3_Missense_Mutation_p.V248M|GPR108_uc010duw.2_RNA	p.V490M	NM_001080452	NP_001073921	Q9NPR9	GP108_HUMAN			17	1514	-			490			Helical; Name=7; (Potential).		B9EJD7	Missense_Mutation	SNP	ENST00000264080.7	37	c.1468G>A	CCDS42479.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.412131	0.42817	2.47E-4	0.0	ENSG00000125734	ENST00000548402;ENST00000264080;ENST00000550472;ENST00000430424	T	0.27720	1.65	3.91	-0.199	0.13220	.	0.210880	0.29745	U	0.011311	T	0.36082	0.0954	L	0.52126	1.63	0.41608	D	0.988893	D;P	0.63880	0.993;0.846	P;P	0.59487	0.858;0.61	T	0.12682	-1.0538	10	0.45353	T	0.12	-0.0677	5.5792	0.17241	0.1624:0.6168:0.0:0.2208	.	490;248	Q9NPR9;B9EK73	GP108_HUMAN;.	M	82;490;124;248	ENSP00000264080:V490M	ENSP00000264080:V490M	V	-	1	0	GPR108	6682089	0.999000	0.42202	0.993000	0.49108	0.516000	0.34256	2.168000	0.42424	0.163000	0.19507	-0.727000	0.03589	GTG		0.677	GPR108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407508.2				7	27	0	0	0	0.001984	0	7	27		
KRI1	65095	broad.mit.edu	37	19	10670351	10670351	+	Missense_Mutation	SNP	C	C	T	rs45518133	byFrequency	TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr19:10670351C>T	ENST00000312962.6	-	11	998	c.979G>A	c.(979-981)Gtg>Atg	p.V327M	KRI1_ENST00000537964.1_5'Flank|KRI1_ENST00000361821.5_Missense_Mutation_p.V323M	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	321	Glu-rich.					nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TTACGGCGCACGGAGGACGCG	0.622													C|||	26	0.00519169	0.0	0.0029	5008	,	,		19439	0.0		0.0109	False		,,,				2504	0.0133					uc002moy.1		NaN																	0				ovary(1)	1						c.(979-981)GTG>ATG		KRI1 homolog		C	MET/VAL	9,4397	15.5+/-35.6	0,9,2194	88.0	86.0	87.0		979	5.2	1.0	19	dbSNP_127	87	109,8491	59.8+/-121.6	2,105,4193	yes	missense	KRI1	NM_023008.3	21	2,114,6387	TT,TC,CC		1.2674,0.2043,0.9073	possibly-damaging	327/710	10670351	118,12888	2203	4300	6503	SO:0001583	missense	65095							g.chr19:10670351C>T		CCDS12242.1	19p13.2	2008-02-05			ENSG00000129347	ENSG00000129347			25769	protein-coding gene	gene with protein product						12878157	Standard	NM_023008		Approved	FLJ12949	uc002moy.1	Q8N9T8	OTTHUMG00000150343	ENST00000312962.6:c.979G>A	19.37:g.10670351C>T	ENSP00000320917:p.Val327Met					KRI1_uc002mow.1_Translation_Start_Site|KRI1_uc002mox.1_Missense_Mutation_p.V323M	p.V327M	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		11	988	-			327			Glu-rich.		Q2M1R5|Q2M1R7|Q7L5J7|Q96G92|Q9BU50|Q9H6I1|Q9H978	Missense_Mutation	SNP	ENST00000312962.6	37	c.979G>A	CCDS12242.1	8	0.003663003663003663	0	0.0	0	0.0	0	0.0	8	0.010554089709762533	C	13.80	2.344779	0.41498	0.002043	0.012674	ENSG00000129347	ENST00000312962;ENST00000361821;ENST00000541101	T;T	0.13196	2.81;2.61	5.25	5.25	0.73442	.	0.134889	0.48767	D	0.000173	T	0.12178	0.0296	L	0.53249	1.67	0.50313	D	0.999869	D;D	0.64830	0.994;0.994	B;B	0.41571	0.36;0.36	T	0.01504	-1.1338	10	0.45353	T	0.12	-43.7751	17.6015	0.88026	0.0:1.0:0.0:0.0	rs45518133	327;323	Q8N9T8;D3YTE0	KRI1_HUMAN;.	M	327;323;327	ENSP00000320917:V327M;ENSP00000355366:V323M	ENSP00000320917:V327M	V	-	1	0	KRI1	10531351	1.000000	0.71417	0.993000	0.49108	0.234000	0.25298	5.094000	0.64523	2.458000	0.83093	0.591000	0.81541	GTG		0.622	KRI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317705.1		NM_023008		24	82	0	0	0	0.016522	0	24	82		
DHPS	1725	broad.mit.edu	37	19	12792434	12792434	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr19:12792434G>T	ENST00000210060.7	-	1	282	c.147C>A	c.(145-147)ttC>ttA	p.F49L	DHPS_ENST00000594424.1_5'Flank|DHPS_ENST00000599481.1_5'Flank|DHPS_ENST00000351660.5_Missense_Mutation_p.F49L|CTD-2192J16.26_ENST00000593554.1_lincRNA	NM_001930.3	NP_001921.1	P49366	DHYS_HUMAN	deoxyhypusine synthase	49					cellular protein metabolic process (GO:0044267)|deoxyhypusine biosynthetic process from spermidine (GO:0050983)|glucose homeostasis (GO:0042593)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell proliferation (GO:0042102)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|translation (GO:0006412)	cytosol (GO:0005829)	deoxyhypusine synthase activity (GO:0034038)			central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8						CGGTGGTGCCGAAGGCCTCCA	0.632																																						uc002muh.1		NaN																	0				central_nervous_system(1)	1						c.(145-147)TTC>TTA		deoxyhypusine synthase isoform a	Sulfadoxine(DB01299)						59.0	60.0	60.0					19																	12792434		2203	4300	6503	SO:0001583	missense	1725				peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|post-translational protein modification|spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase|translation	cytosol	deoxyhypusine synthase activity|protein binding	g.chr19:12792434G>T	U79262	CCDS12276.1, CCDS12277.1, CCDS59354.1	19p13.2	2011-11-24			ENSG00000095059	ENSG00000095059			2869	protein-coding gene	gene with protein product	"""migration-inducing gene 13"""	600944				7673224	Standard	NM_001930		Approved	MIG13	uc002muh.2	P49366		ENST00000210060.7:c.147C>A	19.37:g.12792434G>T	ENSP00000210060:p.Phe49Leu					DHPS_uc002muf.1_5'Flank|DHPS_uc002mug.1_5'Flank|DHPS_uc002mui.1_Missense_Mutation_p.F49L|DHPS_uc002muj.1_Missense_Mutation_p.F49L|DHPS_uc002muk.1_RNA|DHPS_uc010xmn.1_RNA	p.F49L	NM_001930	NP_001921	P49366	DHYS_HUMAN			1	244	-			49					A8K688|M0R1I5|Q13184|Q13276|Q9UDG0	Missense_Mutation	SNP	ENST00000210060.7	37	c.147C>A	CCDS12276.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.223570	0.39300	.	.	ENSG00000095059	ENST00000210060;ENST00000351660	T;T	0.42900	0.96;0.96	5.53	3.38	0.38709	.	0.343803	0.32015	N	0.006708	T	0.28863	0.0716	L	0.33339	1.005	0.38094	D	0.937041	B;B;B	0.12630	0.006;0.0;0.0	B;B;B	0.18871	0.023;0.002;0.002	T	0.10359	-1.0633	10	0.19590	T	0.45	-11.7203	9.2865	0.37760	0.0813:0.1556:0.7631:0.0	.	49;49;49	Q5J8M5;P49366-2;P49366	.;.;DHYS_HUMAN	L	49	ENSP00000210060:F49L;ENSP00000221303:F49L	ENSP00000210060:F49L	F	-	3	2	DHPS	12653434	0.995000	0.38212	0.598000	0.28837	0.266000	0.26442	2.501000	0.45389	0.691000	0.31592	0.313000	0.20887	TTC		0.632	DHPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462708.1		NM_001930		14	44	1	0	6.31663e-08	0.024245	6.5764e-08	14	44		
ASNA1	439	broad.mit.edu	37	19	12856314	12856314	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr19:12856314G>T	ENST00000591090.1	+	4	535	c.433G>T	c.(433-435)Gcc>Tcc	p.A145S	ASNA1_ENST00000357332.3_Missense_Mutation_p.A145S					arsA arsenite transporter, ATP-binding, homolog 1 (bacterial)											endometrium(1)|lung(6)|ovary(3)	10						CATCGATGAGGCCATGAGCTA	0.627																																						uc002muv.2		NaN																	0				ovary(2)	2						c.(433-435)GCC>TCC		arsA arsenite transporter, ATP-binding, homolog	Adenosine triphosphate(DB00171)						70.0	62.0	65.0					19																	12856314		2203	4300	6503	SO:0001583	missense	439				response to arsenic-containing substance	endoplasmic reticulum|nucleolus|soluble fraction	arsenite-transporting ATPase activity|ATP binding|metal ion binding	g.chr19:12856314G>T	U60276	CCDS32920.1	19p13.13	2010-08-05	2001-12-04			ENSG00000198356			752	protein-coding gene	gene with protein product	"""golgi to ER traffic 3 homolog (S. cerevisiae)"", ""transmembrane domain recognition complex, 40kDa"""	601913	"""arsA (bacterial) arsenite transporter, ATP-binding, homolog 1"""			8884272, 17382883	Standard	NM_004317		Approved	ARSA-I, GET3, TRC40	uc002muv.3	O43681		ENST00000591090.1:c.433G>T	19.37:g.12856314G>T	ENSP00000466379:p.Ala145Ser					ASNA1_uc002muw.2_Missense_Mutation_p.A144S	p.A145S	NM_004317	NP_004308	O43681	ASNA_HUMAN			3	447	+			145						Missense_Mutation	SNP	ENST00000591090.1	37	c.433G>T	CCDS32920.1	.	.	.	.	.	.	.	.	.	.	G	34	5.384333	0.95967	.	.	ENSG00000198356	ENST00000357332	T	0.47177	0.85	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.64549	0.2608	M	0.83118	2.625	0.80722	D	1	D;P	0.53619	0.961;0.53	P;P	0.51079	0.658;0.631	T	0.70967	-0.4728	10	0.72032	D	0.01	-25.3439	18.2255	0.89916	0.0:0.0:1.0:0.0	.	127;145	E7EVN0;O43681	.;ASNA_HUMAN	S	145	ENSP00000349887:A145S	ENSP00000349887:A145S	A	+	1	0	ASNA1	12717314	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.982000	0.93471	2.605000	0.88082	0.655000	0.94253	GCC		0.627	ASNA1-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450921.1		NM_004317		20	55	1	0	8.28177e-16	0.007413	8.97192e-16	20	55		
BEST2	54831	broad.mit.edu	37	19	12863496	12863496	+	Missense_Mutation	SNP	A	A	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr19:12863496A>T	ENST00000549706.1	+	2	414	c.90A>T	c.(88-90)aaA>aaT	p.K30N	BEST2_ENST00000042931.1_Missense_Mutation_p.K30N|BEST2_ENST00000553030.1_Missense_Mutation_p.K30N			Q8NFU1	BEST2_HUMAN	bestrophin 2	30					chloride transmembrane transport (GO:1902476)|membrane depolarization (GO:0051899)|sensory perception of smell (GO:0007608)	chloride channel complex (GO:0034707)|cilium (GO:0005929)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						GCATCTACAAACTCCTGTGGC	0.627																																						uc002mux.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(88-90)AAA>AAT		vitelliform macular dystrophy 2-like 1							58.0	61.0	60.0					19																	12863496		2131	4237	6368	SO:0001583	missense	54831				membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity	g.chr19:12863496A>T	AF440756	CCDS42506.1	19p13.13	2014-08-12	2006-10-18	2006-10-18	ENSG00000039987	ENSG00000039987		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17107	protein-coding gene	gene with protein product		607335	"""vitelliform macular dystrophy 2-like 1"""	VMD2L1		12032738, 16912113	Standard	NM_017682		Approved	FLJ20132	uc002mux.3	Q8NFU1	OTTHUMG00000169293	ENST00000549706.1:c.90A>T	19.37:g.12863496A>T	ENSP00000448310:p.Lys30Asn						p.K30N	NM_017682	NP_060152	Q8NFU1	BEST2_HUMAN			1	90	+			30			Helical; (Potential).		Q53YQ8|Q9NXP0	Missense_Mutation	SNP	ENST00000549706.1	37	c.90A>T	CCDS42506.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.032315	0.75504	.	.	ENSG00000039987	ENST00000549706;ENST00000553030;ENST00000042931	D;D;D	0.98901	-5.22;-5.22;-5.22	3.55	-4.51	0.03483	.	0.113287	0.35525	U	0.003151	D	0.99251	0.9739	H	0.97465	4.01	0.41356	D	0.987395	D	0.89917	1.0	D	0.83275	0.996	D	0.99364	1.0918	10	0.87932	D	0	-15.9626	13.2789	0.60202	0.3077:0.0:0.6923:0.0	.	30	Q8NFU1	BEST2_HUMAN	N	30	ENSP00000448310:K30N;ENSP00000447203:K30N;ENSP00000042931:K30N	ENSP00000042931:K30N	K	+	3	2	BEST2	12724496	0.504000	0.26123	0.929000	0.37066	0.923000	0.55619	-0.056000	0.11787	-0.831000	0.04256	0.260000	0.18958	AAA		0.627	BEST2-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403343.1		NM_017682		18	31	0	0	0	0.007413	0	18	31		
C19orf57	79173	broad.mit.edu	37	19	14000730	14000730	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr19:14000730C>G	ENST00000586783.1	-	5	938	c.939G>C	c.(937-939)caG>caC	p.Q313H	C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000454313.1_Missense_Mutation_p.Q313H|C19orf57_ENST00000346736.2_Missense_Mutation_p.Q313H			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	313					multicellular organismal development (GO:0007275)					breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			TGCTGGGGGTCTGCTGGGGGT	0.657																																						uc002mxl.1		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(937-939)CAG>CAC		hypothetical protein LOC79173							19.0	21.0	20.0					19																	14000730		2201	4299	6500	SO:0001583	missense	79173				multicellular organismal development		protein binding	g.chr19:14000730C>G	BC012945	CCDS12299.1	19p13.12	2012-10-26			ENSG00000132016	ENSG00000132016			28153	protein-coding gene	gene with protein product						8228263	Standard	NM_024323		Approved	MGC11271	uc002mxl.1	Q0VDD7	OTTHUMG00000181851	ENST00000586783.1:c.939G>C	19.37:g.14000730C>G	ENSP00000465822:p.Gln313His					C19orf57_uc002mxk.1_Missense_Mutation_p.Q195H|C19orf57_uc002mxm.1_Intron	p.Q313H	NM_024323	NP_077299	Q0VDD7	CS057_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2e-21)		6	998	-			313					Q13411|Q8N825|Q96D63|Q9BU49	Missense_Mutation	SNP	ENST00000586783.1	37	c.939G>C		.	.	.	.	.	.	.	.	.	.	C	12.81	2.048809	0.36181	.	.	ENSG00000132016	ENST00000454313;ENST00000346736	T;T	0.50277	0.75;0.75	4.09	-3.18	0.05186	.	1.615690	0.04215	N	0.332469	T	0.29223	0.0727	N	0.20986	0.625	0.09310	N	1	P;B	0.37101	0.582;0.089	B;B	0.31686	0.134;0.069	T	0.30208	-0.9986	10	0.54805	T	0.06	0.1627	6.3624	0.21435	0.0:0.3548:0.4466:0.1985	.	313;313	Q0VDD7-2;Q0VDD7	.;CS057_HUMAN	H	313	ENSP00000404382:Q313H;ENSP00000254336:Q313H	ENSP00000254336:Q313H	Q	-	3	2	C19orf57	13861730	0.000000	0.05858	0.001000	0.08648	0.400000	0.30750	-0.512000	0.06313	-0.359000	0.08150	0.313000	0.20887	CAG		0.657	C19orf57-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000457947.1		NM_024323		15	21	0	0	0	0.024245	0	15	21		
EPHX3	79852	broad.mit.edu	37	19	15338451	15338451	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr19:15338451C>G	ENST00000221730.3	-	7	1100	c.880G>C	c.(880-882)Gag>Cag	p.E294Q	EPHX3_ENST00000435261.1_Missense_Mutation_p.E294Q|EPHX3_ENST00000602233.1_Missense_Mutation_p.E294Q	NM_024794.2	NP_079070.1	Q9H6B9	EPHX3_HUMAN	epoxide hydrolase 3	294						extracellular region (GO:0005576)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						GTGGTCAGCTCCTGGGGTTCC	0.627																																						uc002nap.2		NaN																	0					0						c.(880-882)GAG>CAG		abhydrolase domain containing 9 precursor							35.0	34.0	35.0					19																	15338451		2203	4300	6503	SO:0001583	missense	79852					extracellular region	hydrolase activity	g.chr19:15338451C>G	AK026061	CCDS12327.1	19p13.13	2011-10-05	2009-04-06	2009-04-06	ENSG00000105131	ENSG00000105131		"""Abhydrolase domain containing"""	23760	protein-coding gene	gene with protein product			"""abhydrolase domain containing 9"""	ABHD9			Standard	NM_024794		Approved	FLJ22408	uc002nap.3	Q9H6B9		ENST00000221730.3:c.880G>C	19.37:g.15338451C>G	ENSP00000221730:p.Glu294Gln					EPHX3_uc002naq.2_Missense_Mutation_p.E294Q	p.E294Q	NM_024794	NP_079070	Q9H6B9	EPHX3_HUMAN			7	1089	-			294					A3KMR3	Missense_Mutation	SNP	ENST00000221730.3	37	c.880G>C	CCDS12327.1	.	.	.	.	.	.	.	.	.	.	C	9.689	1.151450	0.21371	.	.	ENSG00000105131	ENST00000221730;ENST00000435261	T;T	0.03801	3.8;3.8	4.82	1.07	0.20283	.	0.368957	0.21899	N	0.067475	T	0.01800	0.0057	N	0.02973	-0.45	0.23616	N	0.997284	B	0.15141	0.012	B	0.19666	0.026	T	0.49457	-0.8938	10	0.10377	T	0.69	-17.439	7.0199	0.24908	0.0:0.5757:0.3299:0.0945	.	294	Q9H6B9	EPHX3_HUMAN	Q	294	ENSP00000221730:E294Q;ENSP00000410323:E294Q	ENSP00000221730:E294Q	E	-	1	0	EPHX3	15199451	1.000000	0.71417	0.995000	0.50966	0.891000	0.51852	1.285000	0.33261	0.571000	0.29365	0.555000	0.69702	GAG		0.627	EPHX3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465797.1		NM_024794		7	39	0	0	0	0.001984	0	7	39		
IL12RB1	3594	broad.mit.edu	37	19	18174691	18174691	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr19:18174691C>G	ENST00000600835.2	-	14	1911	c.1613G>C	c.(1612-1614)aGc>aCc	p.S538T	IL12RB1_ENST00000593993.2_Missense_Mutation_p.S538T			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	538	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CTCACCGATGCTGAAGCGCTG	0.617																																						uc002nhw.1		NaN																	0				pancreas(1)	1						c.(1612-1614)AGC>ACC		interleukin 12 receptor, beta 1 isoform 1							28.0	32.0	31.0					19																	18174691		2095	4229	6324	SO:0001583	missense	3594				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity	g.chr19:18174691C>G	U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.1613G>C	19.37:g.18174691C>G	ENSP00000470788:p.Ser538Thr					IL12RB1_uc010xqb.1_Missense_Mutation_p.S538T|IL12RB1_uc002nhx.1_Missense_Mutation_p.S578T	p.S538T	NM_005535	NP_005526	P42701	I12R1_HUMAN			13	1677	-			538			Extracellular (Potential).|Fibronectin type-III 5.		A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Missense_Mutation	SNP	ENST00000600835.2	37	c.1613G>C	CCDS54232.1	.	.	.	.	.	.	.	.	.	.	C	2.929	-0.221544	0.06061	.	.	ENSG00000096996	ENST00000430026	T	0.80393	-1.37	3.21	1.03	0.20045	Fibronectin, type III (2);	0.672928	0.13734	N	0.366479	T	0.62270	0.2414	L	0.38838	1.175	0.20074	N	0.999931	B;B	0.30281	0.275;0.18	B;B	0.26202	0.067;0.03	T	0.47959	-0.9076	10	0.06625	T	0.88	-6.5203	4.5001	0.11860	0.0:0.6162:0.2505:0.1333	.	538;538	P42701-2;P42701	.;I12R1_HUMAN	T	538	ENSP00000403103:S538T	ENSP00000403103:S538T	S	-	2	0	IL12RB1	18035691	0.008000	0.16893	0.176000	0.23000	0.580000	0.36256	-0.254000	0.08781	0.367000	0.24454	0.491000	0.48974	AGC		0.617	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466525.3				3	29	0	0	0	0.009096	0	3	29		
LSM14A	26065	broad.mit.edu	37	19	34685411	34685411	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr19:34685411G>A	ENST00000433627.5	+	2	225	c.150G>A	c.(148-150)ccG>ccA	p.P50P	LSM14A_ENST00000544216.3_Silent_p.P50P|LSM14A_ENST00000540746.2_Silent_p.P50P	NM_001114093.1	NP_001107565.1	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	50					cytoplasmic mRNA processing body assembly (GO:0033962)|multicellular organismal development (GO:0007275)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of translation (GO:0006417)|RIG-I signaling pathway (GO:0039529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|intracellular membrane-bounded organelle (GO:0043231)	double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					AAGACAGACCGACAGATCGTC	0.423																																						uc002nvb.3		NaN																	0				skin(1)	1						c.(148-150)CCG>CCA		LSM14 homolog A isoform a							204.0	173.0	184.0					19																	34685411		2203	4300	6503	SO:0001819	synonymous_variant	26065				cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule		g.chr19:34685411G>A	AL834398	CCDS12435.1, CCDS46040.1	19q13.12	2010-01-27	2006-12-21	2006-01-24		ENSG00000257103			24489	protein-coding gene	gene with protein product		610677	"""chromosome 19 open reading frame 13"", ""family with sequence similarity 61, member A"", ""LSM14 homolog A (SCD6, S. cerevisiae)"""	C19orf13, FAM61A		12477932	Standard	NM_015578		Approved	DKFZP434D1335, RAP55A, RAP55	uc002nva.4	Q8ND56		ENST00000433627.5:c.150G>A	19.37:g.34685411G>A						LSM14A_uc002nva.3_Silent_p.P50P|LSM14A_uc010xru.1_Silent_p.P50P	p.P50P	NM_001114093	NP_001107565	Q8ND56	LS14A_HUMAN			2	346	+	Esophageal squamous(110;0.162)		50					B4DTG6|Q76LX7|Q96AR3|Q96K73|Q96SN5|Q9UFR3	Silent	SNP	ENST00000433627.5	37	c.150G>A	CCDS46040.1																																																																																				0.423	LSM14A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451576.3		NM_015578		35	197	0	0	0	0.023175	0	35	197		
KMT2B	9757	broad.mit.edu	37	19	36212267	36212267	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr19:36212267C>T	ENST00000222270.7	+	3	2018	c.2018C>T	c.(2017-2019)gCt>gTt	p.A673V	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000341701.1_Intron|KMT2B_ENST00000420124.1_Missense_Mutation_p.A673V	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	673	Pro-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CCTCTTGGGGCTCCTGAAGCC	0.642																																						uc010eei.2		NaN																	0				central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11						c.(2017-2019)GCT>GTT		myeloid/lymphoid or mixed-lineage leukemia 4							10.0	12.0	11.0					19																	36212267		1984	4135	6119	SO:0001583	missense	9757				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:36212267C>T	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.2018C>T	19.37:g.36212267C>T	ENSP00000222270:p.Ala673Val						p.A673V	NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		3	2018	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		673			Pro-rich.		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.2018C>T	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.692814	0.48202	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.83250	-1.7;-1.7	4.64	4.64	0.57946	.	0.000000	0.37053	N	0.002280	T	0.72930	0.3522	N	0.19112	0.55	0.30081	N	0.809175	B	0.22003	0.063	B	0.22386	0.039	T	0.70905	-0.4745	10	0.49607	T	0.09	.	14.5223	0.67859	0.0:1.0:0.0:0.0	.	673	Q9UMN6	MLL4_HUMAN	V	673	ENSP00000222270:A673V;ENSP00000398837:A673V	ENSP00000222270:A673V	A	+	2	0	AD000671.1	40904107	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	0.961000	0.29267	2.418000	0.82041	0.555000	0.69702	GCT		0.642	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_014727		5	6	0	0	0	0.014758	0	5	6		
ZNF146	7705	broad.mit.edu	37	19	36727428	36727428	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr19:36727428C>G	ENST00000443387.2	+	4	1078	c.86C>G	c.(85-87)tCa>tGa	p.S29*	ZNF146_ENST00000456324.1_Nonsense_Mutation_p.S29*|ZNF565_ENST00000355114.5_Intron	NM_007145.2	NP_009076.2	Q15072	OZF_HUMAN	zinc finger protein 146	29					regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11	Esophageal squamous(110;0.162)					AGCCACAAATCAAACCTCACT	0.423																																						uc002odq.3		NaN																	0					0						c.(85-87)TCA>TGA		zinc finger protein 146							73.0	75.0	74.0					19																	36727428		2203	4300	6503	SO:0001587	stop_gained	7705				regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding	g.chr19:36727428C>G	X70394	CCDS12492.1	19q13.1	2013-01-08				ENSG00000167635		"""Zinc fingers, C2H2-type"""	12931	protein-coding gene	gene with protein product		601505				10449921, 8641144	Standard	NM_001099639		Approved	OZF	uc010eeu.3	Q15072		ENST00000443387.2:c.86C>G	19.37:g.36727428C>G	ENSP00000392095:p.Ser29*					ZNF146_uc010eet.2_Nonsense_Mutation_p.S29*|ZNF146_uc010eeu.2_Nonsense_Mutation_p.S29*	p.S29*	NM_007145	NP_009076	Q15072	OZF_HUMAN			4	1609	+	Esophageal squamous(110;0.162)		29			C2H2-type 1.		Q2TB94	Nonsense_Mutation	SNP	ENST00000443387.2	37	c.86C>G	CCDS12492.1	.	.	.	.	.	.	.	.	.	.	C	48	14.072915	0.99778	.	.	ENSG00000167635	ENST00000443387;ENST00000456324	.	.	.	4.46	4.46	0.54185	.	0.000000	0.33438	N	0.004920	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-2.5024	17.1429	0.86758	0.0:1.0:0.0:0.0	.	.	.	.	X	29	.	ENSP00000392095:S29X	S	+	2	0	ZNF146	41419268	0.001000	0.12720	1.000000	0.80357	0.947000	0.59692	0.950000	0.29122	2.773000	0.95371	0.650000	0.86243	TCA		0.423	ZNF146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451706.1		NM_007145		23	76	0	0	0	0.016522	0	23	76		
ZNF146	7705	broad.mit.edu	37	19	36728021	36728021	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr19:36728021C>G	ENST00000443387.2	+	4	1671	c.679C>G	c.(679-681)Ctc>Gtc	p.L227V	ZNF146_ENST00000456324.1_Missense_Mutation_p.L227V|ZNF565_ENST00000355114.5_Intron	NM_007145.2	NP_009076.2	Q15072	OZF_HUMAN	zinc finger protein 146	227	Interaction with TERF2IP.				regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.L227F(1)		kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11	Esophageal squamous(110;0.162)					GAGCTCATCTCTCACTGTGCA	0.443																																						uc002odq.3		NaN																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)		0						c.(679-681)CTC>GTC		zinc finger protein 146							152.0	137.0	142.0					19																	36728021		2203	4300	6503	SO:0001583	missense	7705				regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding	g.chr19:36728021C>G	X70394	CCDS12492.1	19q13.1	2013-01-08				ENSG00000167635		"""Zinc fingers, C2H2-type"""	12931	protein-coding gene	gene with protein product		601505				10449921, 8641144	Standard	NM_001099639		Approved	OZF	uc010eeu.3	Q15072		ENST00000443387.2:c.679C>G	19.37:g.36728021C>G	ENSP00000392095:p.Leu227Val					ZNF146_uc010eet.2_Missense_Mutation_p.L227V|ZNF146_uc010eeu.2_Missense_Mutation_p.L227V	p.L227V	NM_007145	NP_009076	Q15072	OZF_HUMAN			4	2202	+	Esophageal squamous(110;0.162)		227			Interaction with TERF2IP.|C2H2-type 8.		Q2TB94	Missense_Mutation	SNP	ENST00000443387.2	37	c.679C>G	CCDS12492.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.060647	0.55432	.	.	ENSG00000167635	ENST00000443387;ENST00000456324	T;T	0.43294	0.95;0.95	4.3	4.3	0.51218	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35555	N	0.003132	T	0.67411	0.2890	M	0.82923	2.615	0.35865	D	0.827766	D	0.57899	0.981	D	0.76575	0.988	T	0.77680	-0.2497	10	0.72032	D	0.01	-10.4597	16.711	0.85385	0.0:1.0:0.0:0.0	.	227	Q15072	OZF_HUMAN	V	227	ENSP00000392095:L227V;ENSP00000400391:L227V	ENSP00000392095:L227V	L	+	1	0	ZNF146	41419861	0.105000	0.21958	1.000000	0.80357	0.949000	0.60115	0.550000	0.23345	2.688000	0.91661	0.561000	0.74099	CTC		0.443	ZNF146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451706.1		NM_007145		21	154	0	0	0	0.014323	0	21	154		
HNRNPUL1	11100	broad.mit.edu	37	19	41770565	41770565	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr19:41770565G>C	ENST00000392006.3	+	1	330	c.157G>C	c.(157-159)Gaa>Caa	p.E53Q	HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.E53Q|HNRNPUL1_ENST00000595018.1_Intron|HNRNPUL1_ENST00000378215.4_Intron|HNRNPUL1_ENST00000263367.3_5'Flank|HNRNPUL1_ENST00000593587.1_5'Flank|HNRNPUL1_ENST00000352456.3_Intron	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	53	Necessary for interaction with HRMT1L1.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						CGCCGACGACGAACCGGGGCG	0.736																																						uc002oqb.3		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(157-159)GAA>CAA		heterogeneous nuclear ribonucleoprotein U-like 1							7.0	10.0	9.0					19																	41770565		2104	4134	6238	SO:0001583	missense	11100				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding	g.chr19:41770565G>C	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.157G>C	19.37:g.41770565G>C	ENSP00000375863:p.Glu53Gln					CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Intron|HNRNPUL1_uc002oqa.3_Intron|HNRNPUL1_uc010ehm.2_Missense_Mutation_p.E53Q|HNRNPUL1_uc002oqc.3_Intron|HNRNPUL1_uc002oqe.3_Missense_Mutation_p.E53Q|HNRNPUL1_uc002oqd.3_5'UTR|HNRNPUL1_uc010ehn.2_5'Flank|HNRNPUL1_uc010eho.2_5'Flank|HNRNPUL1_uc010xvy.1_5'Flank|HNRNPUL1_uc010ehl.1_Intron	p.E53Q	NM_007040	NP_008971	Q9BUJ2	HNRL1_HUMAN			1	446	+			53			Necessary for interaction with HRMT1L1.		B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Missense_Mutation	SNP	ENST00000392006.3	37	c.157G>C	CCDS12576.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.913157	0.33815	.	.	ENSG00000105323	ENST00000392006;ENST00000270069	T	0.24350	1.86	3.81	0.35	0.16037	.	0.265160	0.29059	N	0.013267	T	0.15349	0.0370	L	0.29908	0.895	0.44462	D	0.997392	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.05954	-1.0854	10	0.66056	D	0.02	-0.4447	5.708	0.17919	0.1123:0.3888:0.4989:0.0	.	53;53;53	Q9BUJ2-2;A8K5K0;Q9BUJ2	.;.;HNRL1_HUMAN	Q	53	ENSP00000375863:E53Q	ENSP00000270069:E53Q	E	+	1	0	HNRNPUL1	46462405	1.000000	0.71417	0.924000	0.36721	0.846000	0.48090	3.066000	0.50002	-0.002000	0.14469	-0.324000	0.08512	GAA		0.736	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463406.1		NM_144732, NM_007040		6	19	0	0	0	0.004482	0	6	19		
LIPE	3991	broad.mit.edu	37	19	42930623	42930623	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr19:42930623C>T	ENST00000244289.4	-	1	955	c.679G>A	c.(679-681)Gag>Aag	p.E227K	CTB-50E14.4_ENST00000596781.1_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	227					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				GTGACCCACTCAGAAAGTGCC	0.493																																						uc002otr.2		NaN																	0				ovary(1)|breast(1)	2						c.(679-681)GAG>AAG		hormone-sensitive lipase							129.0	130.0	130.0					19																	42930623		2203	4300	6503	SO:0001583	missense	3991				cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	g.chr19:42930623C>T	L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.679G>A	19.37:g.42930623C>T	ENSP00000244289:p.Glu227Lys					uc010eif.1_Intron|uc002ott.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron|LIPE_uc002ots.1_5'Flank	p.E227K	NM_005357	NP_005348	Q05469	LIPS_HUMAN			1	956	-		Prostate(69;0.00682)	227					Q3LRT2|Q6NSL7	Missense_Mutation	SNP	ENST00000244289.4	37	c.679G>A	CCDS12607.1	.	.	.	.	.	.	.	.	.	.	C	14.11	2.437725	0.43224	.	.	ENSG00000079435	ENST00000244289	T	0.04454	3.62	3.58	3.58	0.41010	.	0.565266	0.14754	N	0.300397	T	0.07324	0.0185	M	0.69823	2.125	0.09310	N	1	P	0.40970	0.734	B	0.34652	0.187	T	0.18808	-1.0325	10	0.72032	D	0.01	-9.257	10.9944	0.47567	0.0:1.0:0.0:0.0	.	227	Q05469	LIPS_HUMAN	K	227	ENSP00000244289:E227K	ENSP00000244289:E227K	E	-	1	0	LIPE	47622463	0.292000	0.24362	0.116000	0.21606	0.040000	0.13550	1.862000	0.39448	2.259000	0.74868	0.655000	0.94253	GAG		0.493	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1		NM_005357		90	71	0	0	0	0.01441	0	90	71		
NLRP4	147945	broad.mit.edu	37	19	56382202	56382202	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr19:56382202C>T	ENST00000301295.6	+	7	2786	c.2364C>T	c.(2362-2364)ttC>ttT	p.F788F	NLRP4_ENST00000346986.5_Silent_p.F732F|NLRP4_ENST00000587891.1_Silent_p.F713F	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	788					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GGTTGGCTTTCTGCCACCTCA	0.483																																						uc002qmd.3		NaN																	0				ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15						c.(2362-2364)TTC>TTT		NLR family, pyrin domain containing 4							130.0	115.0	120.0					19																	56382202		2203	4300	6503	SO:0001819	synonymous_variant	147945						ATP binding	g.chr19:56382202C>T	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.2364C>T	19.37:g.56382202C>T						NLRP4_uc002qmf.2_Silent_p.F713F|NLRP4_uc010etf.2_Silent_p.F563F	p.F788F	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	7	2786	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	788					Q86W87|Q96AY6	Silent	SNP	ENST00000301295.6	37	c.2364C>T	CCDS12936.1																																																																																				0.483	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2		NM_134444		59	48	0	0	0	0.01441	0	59	48		
NOL10	79954	broad.mit.edu	37	2	10799346	10799346	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:10799346C>G	ENST00000381685.5	-	10	813	c.708G>C	c.(706-708)ttG>ttC	p.L236F	NOL10_ENST00000542668.1_Missense_Mutation_p.L186F|NOL10_ENST00000538384.1_Missense_Mutation_p.L210F|NOL10_ENST00000345985.3_Missense_Mutation_p.L236F	NM_024894.3	NP_079170.2	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	236						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)					Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		CATTAAATTTCAAAGCAGAGA	0.373																																						uc002raq.2		NaN																	0					0						c.(706-708)TTG>TTC		nucleolar protein 10							81.0	74.0	76.0					2																	10799346		2203	4300	6503	SO:0001583	missense	79954					nucleolus		g.chr2:10799346C>G	AK024137	CCDS1673.2, CCDS58697.1, CCDS58698.1	2p25.1	2008-05-23			ENSG00000115761	ENSG00000115761			25862	protein-coding gene	gene with protein product			"""polyglutamine binding protein 5"""	PQBP5		12477932	Standard	NM_024894		Approved	FLJ14075	uc002raq.3	Q9BSC4	OTTHUMG00000119023	ENST00000381685.5:c.708G>C	2.37:g.10799346C>G	ENSP00000371101:p.Leu236Phe					NOL10_uc010yje.1_Missense_Mutation_p.L210F|NOL10_uc010yjf.1_Missense_Mutation_p.L186F|NOL10_uc002rap.2_Missense_Mutation_p.L236F|NOL10_uc002rar.2_Missense_Mutation_p.L86F	p.L236F	NM_024894	NP_079170	Q9BSC4	NOL10_HUMAN		Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)	10	833	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		236			WD 3.		A8K3R5|B4DLV0|Q53RC9|Q96TA5|Q9H7Y7|Q9H855	Missense_Mutation	SNP	ENST00000381685.5	37	c.708G>C	CCDS1673.2	.	.	.	.	.	.	.	.	.	.	C	17.47	3.396452	0.62177	.	.	ENSG00000115761	ENST00000345985;ENST00000381685;ENST00000542668;ENST00000538384;ENST00000431319	T;T;T;T;T	0.73789	1.97;2.5;-0.53;2.5;-0.78	5.58	4.71	0.59529	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.84124	0.5403	M	0.84326	2.69	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.81914	0.986;0.995;0.986;0.984	T	0.82345	-0.0503	10	0.22706	T	0.39	-14.4428	9.6448	0.39861	0.0:0.7834:0.1416:0.075	.	210;86;236;236	B4DLV0;Q9BSC4-3;Q9BSC4;Q9BSC4-2	.;.;NOL10_HUMAN;.	F	236;236;186;210;127	ENSP00000263837:L236F;ENSP00000371101:L236F;ENSP00000437625:L186F;ENSP00000439663:L210F;ENSP00000403170:L127F	ENSP00000263837:L236F	L	-	3	2	NOL10	10716797	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.562000	0.36353	1.365000	0.46057	0.563000	0.77884	TTG		0.373	NOL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239227.1		NM_024894		5	17	0	0	0	0.001984	0	5	17		
MYCN	4613	broad.mit.edu	37	2	16082556	16082556	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:16082556G>A	ENST00000281043.3	+	2	667	c.370G>A	c.(370-372)Gag>Aag	p.E124K	MYCNOS_ENST00000419083.1_RNA|MYCNOS_ENST00000439180.1_RNA|MYCNOS_ENST00000453400.1_RNA|MYCNOS_ENST00000448719.1_RNA|MYCNOS_ENST00000420452.1_RNA	NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	124					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)			CTCCGCCCGCGAGAAGCTGGA	0.756			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.(370-372)GAG>AAG		v-myc myelocytomatosis viral related oncogene,							6.0	8.0	8.0					2																	16082556		2092	4116	6208	SO:0001583	missense	4613				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:16082556G>A	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.370G>A	2.37:g.16082556G>A	ENSP00000281043:p.Glu124Lys					MYCNOS_uc002rch.1_5'Flank|MYCN_uc010yjr.1_Missense_Mutation_p.E116K	p.E124K	NM_005378	NP_005369	P04198	MYCN_HUMAN	GBM - Glioblastoma multiforme(3;0.000332)		2	670	+	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)		124					Q53XS5|Q6LDT9	Missense_Mutation	SNP	ENST00000281043.3	37	c.370G>A	CCDS1687.1	.	.	.	.	.	.	.	.	.	.	G	35	5.446095	0.96187	.	.	ENSG00000134323	ENST00000281043;ENST00000426211	T	0.18960	2.18	3.56	3.56	0.40772	Transcription regulator Myc, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.43322	0.1242	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.70016	0.967	T	0.45833	-0.9234	10	0.52906	T	0.07	-16.0061	15.5249	0.75894	0.0:0.0:1.0:0.0	.	124	P04198	MYCN_HUMAN	K	124	ENSP00000281043:E124K	ENSP00000281043:E124K	E	+	1	0	MYCN	16000007	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	9.197000	0.94985	1.718000	0.51419	0.561000	0.74099	GAG		0.756	MYCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095469.2		NM_005378		14	14	0	0	0	0.006122	0	14	14		
HADHA	3030	broad.mit.edu	37	2	26437925	26437925	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:26437925C>G	ENST00000380649.3	-	8	925	c.796G>C	c.(796-798)Gaa>Caa	p.E266Q	HADHA_ENST00000457468.2_Missense_Mutation_p.E179Q	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	266					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TACTCACTTTCCACCAATCCC	0.358																																						uc002rgy.2		NaN																	0				ovary(1)	1						c.(796-798)GAA>CAA		mitochondrial trifunctional protein, alpha	NADH(DB00157)						190.0	184.0	186.0					2																	26437925		2203	4300	6503	SO:0001583	missense	3030				fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding	g.chr2:26437925C>G	D16480	CCDS1721.1	2p23	2014-09-17	2010-04-30		ENSG00000084754	ENSG00000084754	1.1.1.211, 4.2.1.17		4801	protein-coding gene	gene with protein product	"""gastrin-binding protein"", ""long-chain-3-hydroxyacyl-CoA dehydrogenase"", ""long-chain 2-enoyl-CoA hydratase"", ""mitochondrial trifunctional protein, alpha subunit"""	600890	"""hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit"""			9605857, 7918661	Standard	NM_000182		Approved	GBP, LCEH, LCHAD, MTPA	uc002rgy.3	P40939	OTTHUMG00000096979	ENST00000380649.3:c.796G>C	2.37:g.26437925C>G	ENSP00000370023:p.Glu266Gln					HADHA_uc010yks.1_Missense_Mutation_p.E179Q|HADHA_uc010ykt.1_Missense_Mutation_p.E179Q	p.E266Q	NM_000182	NP_000173	P40939	ECHA_HUMAN			8	926	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		266					B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Missense_Mutation	SNP	ENST00000380649.3	37	c.796G>C	CCDS1721.1	.	.	.	.	.	.	.	.	.	.	C	8.315	0.822920	0.16678	.	.	ENSG00000084754	ENST00000380649;ENST00000457468	T;T	0.71817	-0.6;-0.6	5.97	5.97	0.96955	.	0.418349	0.30068	N	0.010484	T	0.52141	0.1716	N	0.10874	0.06	0.39346	D	0.965664	B;B;B	0.14012	0.009;0.001;0.001	B;B;B	0.22152	0.038;0.005;0.005	T	0.50154	-0.8861	10	0.21014	T	0.42	.	13.491	0.61395	0.0:0.8434:0.1566:0.0	.	179;266;266	B4DYP2;E9KL44;P40939	.;.;ECHA_HUMAN	Q	266;179	ENSP00000370023:E266Q;ENSP00000405344:E179Q	ENSP00000370023:E266Q	E	-	1	0	HADHA	26291429	1.000000	0.71417	0.993000	0.49108	0.957000	0.61999	4.881000	0.63114	2.832000	0.97577	0.585000	0.79938	GAA		0.358	HADHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214051.1		NM_000182		74	146	0	0	0	0.01441	0	74	146		
TMEM214	54867	broad.mit.edu	37	2	27258520	27258520	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:27258520G>A	ENST00000238788.9	+	4	623	c.561G>A	c.(559-561)gcG>gcA	p.A187A	TMEM214_ENST00000404032.3_Intron	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	187					apoptotic process (GO:0006915)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GGCTGCTGGCGAAGGCAGCAG	0.562																																						uc002ria.3		NaN																	0					0						c.(559-561)GCG>GCA		transmembrane protein 214 isoform 1							109.0	112.0	111.0					2																	27258520		1944	4134	6078	SO:0001819	synonymous_variant	54867					integral to membrane	protein binding	g.chr2:27258520G>A		CCDS42664.1, CCDS46242.1	2p23.3	2013-06-19			ENSG00000119777	ENSG00000119777			25983	protein-coding gene	gene with protein product						23661706	Standard	NM_001083590		Approved	FLJ20254	uc002ria.4	Q6NUQ4	OTTHUMG00000151999	ENST00000238788.9:c.561G>A	2.37:g.27258520G>A						TMEM214_uc010yle.1_RNA|TMEM214_uc002rib.3_Intron	p.A187A	NM_017727	NP_060197	Q6NUQ4	TM214_HUMAN			4	671	+			187					A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	Silent	SNP	ENST00000238788.9	37	c.561G>A	CCDS42664.1																																																																																				0.562	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324748.1		NM_017727		48	98	0	0	0	0.013114	0	48	98		
CAD	790	broad.mit.edu	37	2	27447627	27447627	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:27447627G>A	ENST00000403525.1	+	10	1413	c.1269G>A	c.(1267-1269)ctG>ctA	p.L423L	CAD_ENST00000264705.4_Silent_p.L423L			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)					TTAAGGCCCTGAAGGAGGAAA	0.483																																						uc002rji.2		NaN																	0				ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10						c.(1267-1269)CTG>CTA		carbamoylphosphate synthetase 2/aspartate	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						128.0	130.0	129.0					2																	27447627		2203	4300	6503	SO:0001819	synonymous_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.chr2:27447627G>A	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.1269G>A	2.37:g.27447627G>A						CAD_uc010eyw.2_Silent_p.L423L	p.L423L	NM_004341	NP_004332	P27708	PYR1_HUMAN			10	1431	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		423			CPSase (Carbamoyl-phosphate synthase).|CPSase A.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Silent	SNP	ENST00000403525.1	37	c.1269G>A																																																																																					0.483	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1				43	212	0	0	0	0.009718	0	43	212		
C2orf71	388939	broad.mit.edu	37	2	29297062	29297062	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:29297062C>G	ENST00000331664.5	-	1	65	c.66G>C	c.(64-66)ttG>ttC	p.L22F		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	22					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TGGGCTTTTTCAAGAACTGAA	0.493																																						uc002rmt.1		NaN																	0				skin(1)	1						c.(64-66)TTG>TTC		hypothetical protein LOC388939							92.0	86.0	88.0					2																	29297062		1982	4172	6154	SO:0001583	missense	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29297062C>G		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.66G>C	2.37:g.29297062C>G	ENSP00000332809:p.Leu22Phe						p.L22F	NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN			1	66	-			22						Missense_Mutation	SNP	ENST00000331664.5	37	c.66G>C	CCDS42669.1	.	.	.	.	.	.	.	.	.	.	C	7.332	0.619084	0.14129	.	.	ENSG00000179270	ENST00000331664	T	0.20069	2.1	5.77	1.55	0.23275	.	0.240090	0.29707	N	0.011413	T	0.06005	0.0156	N	0.03016	-0.435	0.26209	N	0.979339	B	0.24043	0.096	B	0.22152	0.038	T	0.38286	-0.9668	10	0.07644	T	0.81	-1.2092	4.595	0.12325	0.5037:0.3128:0.1073:0.0762	.	22	A6NGG8	CB071_HUMAN	F	22	ENSP00000332809:L22F	ENSP00000332809:L22F	L	-	3	2	C2orf71	29150566	0.928000	0.31464	0.994000	0.49952	0.904000	0.53231	-0.047000	0.11963	-0.016000	0.14127	0.561000	0.74099	TTG		0.493	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3		NM_001029883		15	100	0	0	0	0.024245	0	15	100		
CLIP4	79745	broad.mit.edu	37	2	29366627	29366627	+	Missense_Mutation	SNP	C	C	G	rs138901368	byFrequency	TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:29366627C>G	ENST00000320081.5	+	7	956	c.701C>G	c.(700-702)cCg>cGg	p.P234R	CLIP4_ENST00000401605.1_Missense_Mutation_p.P234R|CLIP4_ENST00000404424.1_Missense_Mutation_p.P234R|CLIP4_ENST00000401617.2_Missense_Mutation_p.P127R	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	234										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					GTAGATATGCCGTTAGAGATG	0.453																																						uc002rmv.2		NaN																	0				ovary(1)	1						c.(700-702)CCG>CGG		CAP-GLY domain containing linker protein family,							97.0	96.0	96.0					2																	29366627		2203	4300	6503	SO:0001583	missense	79745							g.chr2:29366627C>G	AK024722	CCDS1770.1, CCDS74502.1	2p23	2013-01-10	2007-01-04	2007-01-04	ENSG00000115295	ENSG00000115295		"""Ankyrin repeat domain containing"""	26108	protein-coding gene	gene with protein product			"""restin-like 2"""	RSNL2			Standard	XM_005264562		Approved	FLJ21069	uc002rmv.3	Q8N3C7	OTTHUMG00000097837	ENST00000320081.5:c.701C>G	2.37:g.29366627C>G	ENSP00000327009:p.Pro234Arg					CLIP4_uc002rmu.2_Missense_Mutation_p.P234R|CLIP4_uc010ezm.1_Missense_Mutation_p.P234R|CLIP4_uc002rmw.2_RNA|CLIP4_uc010ymn.1_Missense_Mutation_p.P216R	p.P234R	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN			7	940	+	Acute lymphoblastic leukemia(172;0.155)		234					A0AV10|B2RMQ3|B7Z7N8|Q7Z4U3|Q96BR7|Q96MA5|Q9H7C0	Missense_Mutation	SNP	ENST00000320081.5	37	c.701C>G	CCDS1770.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.048407	0.55110	.	.	ENSG00000115295	ENST00000401605;ENST00000401617;ENST00000404424;ENST00000402240;ENST00000320081;ENST00000379543;ENST00000530644	T;T;T;T	0.75154	-0.91;-0.63;-0.58;-0.58	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.85839	0.5790	M	0.65975	2.015	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.984	D	0.86507	0.1807	10	0.66056	D	0.02	.	19.3755	0.94506	0.0:1.0:0.0:0.0	.	234;234	A8K6D0;Q8N3C7	.;CLIP4_HUMAN	R	234;127;234;234;234;235;216	ENSP00000384242:P234R;ENSP00000385148:P127R;ENSP00000385594:P234R;ENSP00000327009:P234R	ENSP00000327009:P234R	P	+	2	0	CLIP4	29220131	0.998000	0.40836	0.952000	0.39060	0.257000	0.26127	3.909000	0.56363	2.567000	0.86603	0.650000	0.86243	CCG		0.453	CLIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215123.2		NM_024692		30	145	0	0	0	0.009535	0	30	145		
CEBPZ	10153	broad.mit.edu	37	2	37450318	37450318	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:37450318G>A	ENST00000234170.5	-	3	2021	c.1876C>T	c.(1876-1878)Cat>Tat	p.H626Y		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	626					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|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(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TATACCGGATGATCATCTAGT	0.343																																						uc002rpz.2		NaN																	0				pancreas(1)	1						c.(1876-1878)CAT>TAT		CCAAT/enhancer binding protein zeta							126.0	122.0	124.0					2																	37450318		2203	4300	6503	SO:0001583	missense	10153				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr2:37450318G>A	M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.1876C>T	2.37:g.37450318G>A	ENSP00000234170:p.His626Tyr						p.H626Y	NM_005760	NP_005751	Q03701	CEBPZ_HUMAN			3	1906	-		all_hematologic(82;0.21)	626					Q8NE75	Missense_Mutation	SNP	ENST00000234170.5	37	c.1876C>T	CCDS1787.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.104180	0.37145	.	.	ENSG00000115816	ENST00000234170;ENST00000545744	T	0.22134	1.97	5.32	4.44	0.53790	Armadillo-type fold (1);CCAAT-binding factor (1);	0.388810	0.31188	N	0.008098	T	0.31389	0.0795	M	0.73598	2.24	0.31175	N	0.702706	P	0.44877	0.845	P	0.47346	0.544	T	0.44787	-0.9305	10	0.87932	D	0	.	9.4848	0.38922	0.0728:0.0:0.7858:0.1415	.	626	Q03701	CEBPZ_HUMAN	Y	626	ENSP00000234170:H626Y	ENSP00000234170:H626Y	H	-	1	0	CEBPZ	37303822	1.000000	0.71417	0.543000	0.28128	0.483000	0.33249	4.156000	0.58138	1.349000	0.45751	0.561000	0.74099	CAT		0.343	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218569.2		NM_005760		55	65	0	0	0	0.01441	0	55	65		
PLEK	5341	broad.mit.edu	37	2	68607517	68607517	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:68607517G>C	ENST00000234313.7	+	2	279	c.100G>C	c.(100-102)Gaa>Caa	p.E34Q		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	34	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cell projection organization (GO:0030030)|cortical actin cytoskeleton organization (GO:0030866)|hematopoietic progenitor cell differentiation (GO:0002244)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of inositol phosphate biosynthetic process (GO:0010920)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-inhibiting G-protein coupled receptor signaling pathway (GO:0030845)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of inositol-polyphosphate 5-phosphatase activity (GO:0010925)|positive regulation of integrin activation (GO:0033625)|positive regulation of platelet activation (GO:0010572)|protein kinase C signaling (GO:0070528)|protein secretion by platelet (GO:0070560)|regulation of cell diameter (GO:0060305)|ruffle organization (GO:0031529)|thrombin receptor signaling pathway (GO:0070493)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		AGATGGAATTGAATTCTATAA	0.453																																						uc002sen.3		NaN																	0				ovary(1)	1						c.(100-102)GAA>CAA		pleckstrin							73.0	74.0	74.0					2																	68607517		2203	4300	6503	SO:0001583	missense	5341				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding	g.chr2:68607517G>C	X07743	CCDS1887.1	2p13.3	2013-01-10			ENSG00000115956	ENSG00000115956		"""Pleckstrin homology (PH) domain containing"""	9070	protein-coding gene	gene with protein product		173570				2897630, 12054651	Standard	NM_002664		Approved	P47	uc002sen.4	P08567	OTTHUMG00000129562	ENST00000234313.7:c.100G>C	2.37:g.68607517G>C	ENSP00000234313:p.Glu34Gln					PLEK_uc010fde.2_Missense_Mutation_p.E34Q	p.E34Q	NM_002664	NP_002655	P08567	PLEK_HUMAN		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)	2	262	+		Ovarian(717;0.0129)	34			PH 1.		B2R9E8|Q53SU8|Q6FGM8|Q6FGQ1|Q8WV81	Missense_Mutation	SNP	ENST00000234313.7	37	c.100G>C	CCDS1887.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.587338	0.86851	.	.	ENSG00000115956	ENST00000234313	T	0.12255	2.7	5.07	5.07	0.68467	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.33644	0.0870	L	0.60455	1.87	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.69824	0.966;0.943	T	0.01626	-1.1309	10	0.30078	T	0.28	.	18.4778	0.90799	0.0:0.0:1.0:0.0	.	52;34	Q59GZ2;P08567	.;PLEK_HUMAN	Q	34	ENSP00000234313:E34Q	ENSP00000234313:E34Q	E	+	1	0	PLEK	68461021	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.476000	0.97823	2.356000	0.79943	0.655000	0.94253	GAA		0.453	PLEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251755.1		NM_002664		53	47	0	0	0	0.01441	0	53	47		
M1AP	130951	broad.mit.edu	37	2	74834257	74834257	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:74834257G>A	ENST00000290536.5	-	4	636	c.520C>T	c.(520-522)Cag>Tag	p.Q174*	M1AP_ENST00000536235.1_Nonsense_Mutation_p.Q174*|M1AP_ENST00000409585.1_Nonsense_Mutation_p.Q174*|M1AP_ENST00000358434.2_5'UTR	NM_001281296.1|NM_138804.3	NP_001268225.1|NP_620159.2	Q8TC57	M1AP_HUMAN	meiosis 1 associated protein	174					cell differentiation (GO:0030154)|chromatin assembly (GO:0031497)|female gamete generation (GO:0007292)|male meiosis chromosome separation (GO:0051308)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											TCAACGACCTGAAACCTCCTG	0.443																																						uc002smy.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(520-522)CAG>TAG		hypothetical protein LOC130951							150.0	133.0	139.0					2																	74834257		2203	4300	6503	SO:0001587	stop_gained	130951				chromatin assembly|female gamete generation|RNA processing|spermatogenesis	integral to membrane		g.chr2:74834257G>A		CCDS33229.1, CCDS62941.1	2p13.1	2013-02-05	2013-02-05	2013-01-16	ENSG00000159374	ENSG00000159374			25183	protein-coding gene	gene with protein product	"""meiosis 1 arresting protein"", ""spermatogenesis associated 37"""		"""chromosome 2 open reading frame 65"""	C2orf65		16881047, 23269666	Standard	NM_138804		Approved	D6Mm5e, SPATA37	uc002smy.3	Q8TC57	OTTHUMG00000152918	ENST00000290536.5:c.520C>T	2.37:g.74834257G>A	ENSP00000290536:p.Gln174*					C2orf65_uc010ysa.1_Nonsense_Mutation_p.Q174*|C2orf65_uc002smz.2_Nonsense_Mutation_p.Q174*	p.Q174*	NM_138804	NP_620159	Q8TC57	CB065_HUMAN			4	637	-			174					B7Z6E7|E9PGG8|Q6ZP30|Q96L07	Nonsense_Mutation	SNP	ENST00000290536.5	37	c.520C>T	CCDS33229.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.649219	0.87958	.	.	ENSG00000159374	ENST00000290536;ENST00000409585;ENST00000536235	.	.	.	5.98	5.98	0.97165	.	0.065750	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-10.678	15.9562	0.79889	0.0:0.0:1.0:0.0	.	.	.	.	X	174	.	ENSP00000290536:Q174X	Q	-	1	0	C2orf65	74687765	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.911000	0.69939	2.847000	0.97988	0.591000	0.81541	CAG		0.443	M1AP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328569.1		NM_138804		24	135	0	0	0	0.01892	0	24	135		
TRABD2A	129293	broad.mit.edu	37	2	85066332	85066332	+	Missense_Mutation	SNP	C	C	G	rs200442046		TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:85066332C>G	ENST00000409520.2	-	4	974	c.932G>C	c.(931-933)cGg>cCg	p.R311P	TRABD2A_ENST00000409133.1_Missense_Mutation_p.R311P|TRABD2A_ENST00000335459.5_Missense_Mutation_p.R262P	NM_001277053.1	NP_001263982.1	Q86V40	TIKI1_HUMAN	TraB domain containing 2A	311					head development (GO:0060322)|metabolic process (GO:0008152)|negative regulation of Wnt signaling pathway (GO:0030178)|protein oxidation (GO:0018158)|Wnt signaling pathway (GO:0016055)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|Wnt-protein binding (GO:0017147)										GGCCTTCACCCGCTTCCCTAT	0.527																																						uc010ysl.1		NaN																	0				ovary(1)	1						c.(931-933)CGG>CCG		hypothetical protein LOC129293 precursor							92.0	92.0	92.0					2																	85066332		1900	4123	6023	SO:0001583	missense	129293					integral to membrane		g.chr2:85066332C>G	BC049209	CCDS46349.1, CCDS62946.1	2p11.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000186854	ENSG00000186854			27013	protein-coding gene	gene with protein product		614912	"""chromosome 2 open reading frame 89"""	C2orf89		12477932	Standard	NM_001080824		Approved		uc010ysl.3	Q86V40	OTTHUMG00000152922	ENST00000409520.2:c.932G>C	2.37:g.85066332C>G	ENSP00000387075:p.Arg311Pro					C2orf89_uc002sou.3_Missense_Mutation_p.R262P|C2orf89_uc002sov.2_RNA|C2orf89_uc010fgc.1_Missense_Mutation_p.R311P	p.R311P	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN			4	1021	-			311			Extracellular (Potential).		B4DKK8|I6UMB9	Missense_Mutation	SNP	ENST00000409520.2	37	c.932G>C		.	.	.	.	.	.	.	.	.	.	C	16.73	3.203836	0.58234	.	.	ENSG00000186854	ENST00000335459;ENST00000409520;ENST00000409133	T;T;T	0.46819	1.31;0.86;0.86	3.75	1.52	0.23074	.	0.088520	0.41097	D	0.000944	T	0.63200	0.2491	.	.	.	0.39919	D	0.97413	D;D;D	0.89917	0.996;1.0;1.0	P;D;D	0.97110	0.879;1.0;0.997	T	0.62044	-0.6937	9	0.66056	D	0.02	.	6.8233	0.23868	0.0:0.7144:0.0:0.2856	.	311;311;262	Q86V40;C9IYB5;Q86V40-2	CB089_HUMAN;.;.	P	262;311;311	ENSP00000335004:R262P;ENSP00000387075:R311P;ENSP00000387183:R311P	ENSP00000335004:R262P	R	-	2	0	C2orf89	84919843	0.998000	0.40836	0.861000	0.33841	0.845000	0.48019	3.793000	0.55484	0.124000	0.18369	-0.251000	0.11542	CGG		0.527	TRABD2A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001080824		20	52	0	0	0	0.012319	0	20	52		
ZNF514	84874	broad.mit.edu	37	2	95815563	95815563	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:95815563G>A	ENST00000295208.2	-	5	1129	c.667C>T	c.(667-669)Cag>Tag	p.Q223*	MRPS5_ENST00000475040.1_5'Flank|ZNF514_ENST00000411425.1_Nonsense_Mutation_p.Q223*	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	223					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)			large_intestine(4)|lung(6)|urinary_tract(1)	11						TGACATCGCTGATGGCGCCTA	0.438																																						uc002sue.1		NaN																	0					0						c.(667-669)CAG>TAG		zinc finger protein 514							128.0	134.0	132.0					2																	95815563		2203	4300	6503	SO:0001587	stop_gained	84874				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:95815563G>A	AL832263	CCDS2011.1	2q11.2	2013-01-08			ENSG00000144026	ENSG00000144026		"""Zinc fingers, C2H2-type"", ""-"""	25894	protein-coding gene	gene with protein product							Standard	NM_032788		Approved	FLJ14457	uc002sue.1	Q96K75	OTTHUMG00000130391	ENST00000295208.2:c.667C>T	2.37:g.95815563G>A	ENSP00000295208:p.Gln223*					ZNF514_uc002sud.1_Nonsense_Mutation_p.Q296*	p.Q223*	NM_032788	NP_116177	Q96K75	ZN514_HUMAN			5	1041	-			223			C2H2-type 1.		Q5JPJ3	Nonsense_Mutation	SNP	ENST00000295208.2	37	c.667C>T	CCDS2011.1	.	.	.	.	.	.	.	.	.	.	G	39	7.726200	0.98456	.	.	ENSG00000144026	ENST00000295208;ENST00000411425;ENST00000542127	.	.	.	3.18	3.18	0.36537	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	12.6058	0.56523	0.0:0.0:1.0:0.0	.	.	.	.	X	223;223;8	.	ENSP00000295208:Q223X	Q	-	1	0	ZNF514	95179290	0.005000	0.15991	1.000000	0.80357	0.993000	0.82548	0.064000	0.14437	2.065000	0.61736	0.655000	0.94253	CAG		0.438	ZNF514-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252769.1		NM_032788		48	178	0	0	0	0.01441	0	48	178		
NPAS2	4862	broad.mit.edu	37	2	101584864	101584864	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:101584864C>T	ENST00000335681.5	+	11	1314	c.1029C>T	c.(1027-1029)ttC>ttT	p.F343F	NPAS2_ENST00000542504.1_Silent_p.F408F	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	343	PAC.				cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGCCCGAGTTCATCGTGTGCA	0.612																																						uc002tap.1		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(1027-1029)TTC>TTT		neuronal PAS domain protein 2							155.0	130.0	138.0					2																	101584864		2203	4300	6503	SO:0001819	synonymous_variant	4862				central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:101584864C>T	U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"""Basic helix-loop-helix proteins"""	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.1029C>T	2.37:g.101584864C>T						NPAS2_uc010yvt.1_Silent_p.F408F	p.F343F	NM_002518	NP_002509	Q99743	NPAS2_HUMAN			11	1315	+			343			PAC.		Q4ZFV9|Q53SQ3|Q86V96|Q99629	Silent	SNP	ENST00000335681.5	37	c.1029C>T	CCDS2048.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.521085	0.27211	.	.	ENSG00000170485	ENST00000448812	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	T	0.65302	0.2678	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62343	-0.6874	4	.	.	.	.	13.1258	0.59354	0.0:0.9267:0.0:0.0733	.	.	.	.	Y	230	.	.	H	+	1	0	NPAS2	100951296	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.680000	0.25306	2.773000	0.95371	0.655000	0.94253	CAT		0.612	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253168.3				19	79	0	0	0	0.012319	0	19	79		
IL18RAP	8807	broad.mit.edu	37	2	103059778	103059778	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:103059778G>A	ENST00000264260.2	+	8	1504	c.915G>A	c.(913-915)gcG>gcA	p.A305A	AC007278.3_ENST00000450893.1_RNA|IL18RAP_ENST00000409369.1_Silent_p.A163A	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	305	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TACCTGAGGCGAAAAGGTAAG	0.408																																						uc002tbx.2		NaN																	0				skin(3)|ovary(2)	5						c.(913-915)GCG>GCA		interleukin 18 receptor accessory protein							57.0	62.0	60.0					2																	103059778		2202	4299	6501	SO:0001819	synonymous_variant	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103059778G>A	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.915G>A	2.37:g.103059778G>A						IL18RAP_uc010fiz.2_Silent_p.A163A	p.A305A	NM_003853	NP_003844	O95256	I18RA_HUMAN			8	1399	+			305			Ig-like C2-type 2.|Extracellular (Potential).		B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Silent	SNP	ENST00000264260.2	37	c.915G>A	CCDS2061.1																																																																																				0.408	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2		NM_003853		9	53	0	0	0	0.010729	0	9	53		
EPB41L5	57669	broad.mit.edu	37	2	120833065	120833065	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:120833065C>G	ENST00000263713.5	+	6	635	c.421C>G	c.(421-423)Ctt>Gtt	p.L141V	EPB41L5_ENST00000452780.1_Missense_Mutation_p.L141V|EPB41L5_ENST00000443124.1_Missense_Mutation_p.L141V|EPB41L5_ENST00000443902.2_Missense_Mutation_p.L141V|EPB41L5_ENST00000331393.4_Missense_Mutation_p.L141V	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	141	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actomyosin structure organization (GO:0031032)|apical constriction (GO:0003383)|axial mesoderm morphogenesis (GO:0048319)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ectoderm development (GO:0007398)|embryonic foregut morphogenesis (GO:0048617)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|in utero embryonic development (GO:0001701)|left/right axis specification (GO:0070986)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of protein binding (GO:0032091)|neural plate morphogenesis (GO:0001839)|paraxial mesoderm development (GO:0048339)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein binding (GO:0032092)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of establishment of protein localization (GO:0070201)|somite rostral/caudal axis specification (GO:0032525)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)|unidimensional cell growth (GO:0009826)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)		p.L141I(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						TTTATTTGTTCTTCAGTTAAA	0.284																																						uc002tmg.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)	ovary(1)	1						c.(421-423)CTT>GTT		erythrocyte membrane protein band 4.1 like 5							97.0	97.0	97.0					2																	120833065		2201	4291	6492	SO:0001583	missense	57669					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr2:120833065C>G	AK023019	CCDS2130.1, CCDS54392.1, CCDS54393.1	2q14.2	2009-07-28			ENSG00000115109	ENSG00000115109			19819	protein-coding gene	gene with protein product		611730					Standard	NM_001184937		Approved	KIAA1548, FLJ12957, BE37, YMO1	uc002tmg.3	Q9HCM4	OTTHUMG00000131433	ENST00000263713.5:c.421C>G	2.37:g.120833065C>G	ENSP00000263713:p.Leu141Val					EPB41L5_uc010flk.2_Missense_Mutation_p.L141V|EPB41L5_uc010fll.2_Missense_Mutation_p.L141V|EPB41L5_uc002tmh.3_Missense_Mutation_p.L141V|EPB41L5_uc010flm.2_5'Flank	p.L141V	NM_020909	NP_065960	Q9HCM4	E41L5_HUMAN			6	547	+			141			FERM.		Q7Z5S1|Q8IZ12|Q9H975	Missense_Mutation	SNP	ENST00000263713.5	37	c.421C>G	CCDS2130.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.190307	0.78789	.	.	ENSG00000115109	ENST00000263713;ENST00000443902;ENST00000331393;ENST00000443124;ENST00000452780	T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26	4.73	4.73	0.59995	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.64402	D	0.000010	D	0.91157	0.7215	M	0.93808	3.46	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.994;0.999	D	0.93663	0.6983	10	0.87932	D	0	.	17.6568	0.88180	0.0:1.0:0.0:0.0	.	141;141;141	Q9HCM4-4;Q9HCM4-2;Q9HCM4	.;.;E41L5_HUMAN	V	141	ENSP00000263713:L141V;ENSP00000393856:L141V;ENSP00000329687:L141V;ENSP00000393722:L141V;ENSP00000390439:L141V	ENSP00000263713:L141V	L	+	1	0	EPB41L5	120549535	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.685000	0.46959	2.313000	0.78055	0.555000	0.69702	CTT		0.284	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254230.2		NM_020909		14	24	0	0	0	0.020292	0	14	24		
WDR33	55339	broad.mit.edu	37	2	128520696	128520696	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:128520696C>G	ENST00000322313.4	-	7	822	c.664G>C	c.(664-666)Gat>Cat	p.D222H	WDR33_ENST00000409658.3_3'UTR|WDR33_ENST00000393006.1_Missense_Mutation_p.D222H	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	222					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GTGCCGTCATCAGAGCATGTA	0.408																																						uc002tpg.1		NaN																	0					0						c.(664-666)GAT>CAT		WD repeat domain 33 isoform 1							122.0	114.0	117.0					2																	128520696		2203	4300	6503	SO:0001583	missense	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128520696C>G		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.664G>C	2.37:g.128520696C>G	ENSP00000325377:p.Asp222His					WDR33_uc002tph.1_Missense_Mutation_p.D222H	p.D222H	NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	7	847	-	Colorectal(110;0.1)		222			WD 3.		Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	c.664G>C	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.121323	0.77436	.	.	ENSG00000136709	ENST00000322313;ENST00000436787;ENST00000393006	T;T;T	0.61040	0.14;0.14;0.14	5.91	5.91	0.95273	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	0.74527	0.3728	L	0.53561	1.675	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.74725	-0.3568	10	0.87932	D	0	-16.4524	20.3552	0.98837	0.0:1.0:0.0:0.0	.	222;222	Q6NUQ0;Q9C0J8	.;WDR33_HUMAN	H	222;144;222	ENSP00000325377:D222H;ENSP00000397547:D144H;ENSP00000376730:D222H	ENSP00000325377:D222H	D	-	1	0	WDR33	128237166	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.815000	0.86186	2.812000	0.96745	0.558000	0.71614	GAT		0.408	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2		NM_018383		25	105	0	0	0	0.024334	0	25	105		
NEB	4703	broad.mit.edu	37	2	152394433	152394433	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:152394433G>A	ENST00000172853.10	-	112	16099	c.15952C>T	c.(15952-15954)Cgt>Tgt	p.R5318C	NEB_ENST00000409198.1_Missense_Mutation_p.R5318C|NEB_ENST00000397345.3_Missense_Mutation_p.R7019C|NEB_ENST00000603639.1_Missense_Mutation_p.R7019C|NEB_ENST00000604864.1_Missense_Mutation_p.R7019C|NEB_ENST00000427231.2_Missense_Mutation_p.R7019C			P20929	NEBU_HUMAN	nebulin	5318					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGCTCTGGACGATCAGGAATG	0.403																																						uc010fnx.2		NaN																	0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(15952-15954)CGT>TGT		nebulin isoform 3							95.0	97.0	97.0					2																	152394433		1864	4112	5976	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152394433G>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.15952C>T	2.37:g.152394433G>A	ENSP00000172853:p.Arg5318Cys					NEB_uc002txr.2_Missense_Mutation_p.R1741C	p.R5318C	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	112	16143	-			5318			Nebulin 145.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.15952C>T		.	.	.	.	.	.	.	.	.	.	G	23.1	4.378587	0.82682	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853;ENST00000420924	T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82	5.63	3.77	0.43336	.	0.263335	0.44902	D	0.000417	T	0.59321	0.2185	L	0.57536	1.79	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.922;0.995	T	0.57051	-0.7877	10	0.51188	T	0.08	.	6.9483	0.24530	0.0687:0.1279:0.6707:0.1328	.	5318;1749	P20929;Q14215	NEBU_HUMAN;.	C	5318;7019;7019;1367;1749;5318;107	ENSP00000386259:R5318C;ENSP00000380505:R7019C;ENSP00000416578:R7019C;ENSP00000410961:R1749C;ENSP00000172853:R5318C;ENSP00000405167:R107C	ENSP00000172853:R5318C	R	-	1	0	NEB	152102679	1.000000	0.71417	0.993000	0.49108	0.946000	0.59487	5.431000	0.66507	0.684000	0.31448	0.585000	0.79938	CGT		0.403	NEB-201	KNOWN	basic	protein_coding	protein_coding			NM_004543		9	42	0	0	0	0.008291	0	9	42		
ACVR1C	130399	broad.mit.edu	37	2	158397605	158397605	+	Missense_Mutation	SNP	C	C	G	rs149435555		TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:158397605C>G	ENST00000243349.8	-	7	1582	c.1222G>C	c.(1222-1224)Gga>Cga	p.G408R	ACVR1C_ENST00000335450.7_Missense_Mutation_p.G328R|ACVR1C_ENST00000409680.3_Missense_Mutation_p.G358R|ACVR1C_ENST00000348328.5_Missense_Mutation_p.G251R	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2			activin A receptor, type IC											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						ATTTTACCTCCGACTGAACAC	0.373																																						uc002tzk.3		NaN																	0				lung(3)|ovary(2)|skin(2)	7						c.(1222-1224)GGA>CGA		activin A receptor, type IC isoform 1							111.0	113.0	112.0					2																	158397605		2203	4300	6503	SO:0001583	missense	130399				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity	g.chr2:158397605C>G	BC022530	CCDS2205.1, CCDS46432.1, CCDS46433.1, CCDS46434.1	2q24.2	2008-02-05			ENSG00000123612	ENSG00000123612			18123	protein-coding gene	gene with protein product		608981					Standard	NM_145259		Approved	ALK7, ACVRLK7	uc002tzk.4	Q8NER5	OTTHUMG00000131964	ENST00000243349.8:c.1222G>C	2.37:g.158397605C>G	ENSP00000243349:p.Gly408Arg					ACVR1C_uc002tzl.3_Missense_Mutation_p.G328R|ACVR1C_uc010fof.2_Missense_Mutation_p.G251R|ACVR1C_uc010foe.2_Missense_Mutation_p.G358R	p.G408R	NM_145259	NP_660302	Q8NER5	ACV1C_HUMAN			7	1465	-			408			Protein kinase.|Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000243349.8	37	c.1222G>C	CCDS2205.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.638985	0.29157	.	.	ENSG00000123612	ENST00000243349;ENST00000409680;ENST00000348328;ENST00000335450	D;D;D;D	0.93189	-3.18;-3.18;-3.18;-3.18	5.3	3.51	0.40186	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.117978	0.37906	N	0.001884	D	0.92948	0.7756	L	0.58810	1.83	0.58432	D	0.999998	B;B;B	0.30193	0.165;0.082;0.272	B;B;B	0.41946	0.231;0.058;0.371	D	0.90870	0.4745	10	0.56958	D	0.05	.	11.9456	0.52926	0.0:0.8559:0.0:0.1441	.	251;328;408	Q8NER5-2;Q8NER5-3;Q8NER5	.;.;ACV1C_HUMAN	R	408;358;251;328	ENSP00000243349:G408R;ENSP00000387168:G358R;ENSP00000335139:G251R;ENSP00000335178:G328R	ENSP00000243349:G408R	G	-	1	0	ACVR1C	158105851	1.000000	0.71417	1.000000	0.80357	0.220000	0.24768	1.951000	0.40333	0.732000	0.32470	-0.216000	0.12614	GGA		0.373	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254924.2		NM_145259		33	181	0	0	0	0.021022	0	33	181		
CCDC173	129881	broad.mit.edu	37	2	170502386	170502386	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:170502386G>A	ENST00000447353.1	-	9	1729	c.1624C>T	c.(1624-1626)Caa>Taa	p.Q542*		NM_001085447.1	NP_001078916.1	Q0VFZ6	CC173_HUMAN	coiled-coil domain containing 173	542																	TTTGACTTTTGAAAATTATAT	0.348																																						uc002ufe.2		NaN																	0					0						c.(1624-1626)CAA>TAA		hypothetical protein LOC129881							48.0	49.0	49.0					2																	170502386		1816	4078	5894	SO:0001587	stop_gained	129881							g.chr2:170502386G>A	BC015980, BC117445	CCDS46445.1	2q31.1	2012-08-07	2012-08-07	2012-08-07	ENSG00000154479	ENSG00000154479			25064	protein-coding gene	gene with protein product	"""hypothetical LOC129881"""		"""chromosome 2 open reading frame 77"""	C2orf77		12477932	Standard	NM_001085447		Approved	LOC129881	uc002ufe.2	Q0VFZ6	OTTHUMG00000154116	ENST00000447353.1:c.1624C>T	2.37:g.170502386G>A	ENSP00000391504:p.Gln542*						p.Q542*	NM_001085447	NP_001078916	Q0VFZ6	CB077_HUMAN			9	1718	-			542					Q6PJF6	Nonsense_Mutation	SNP	ENST00000447353.1	37	c.1624C>T	CCDS46445.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.222930	0.79464	.	.	ENSG00000154479	ENST00000447353	.	.	.	5.87	3.86	0.44501	.	0.682080	0.14247	N	0.331711	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	10.8027	0.46497	0.0:0.128:0.697:0.175	.	.	.	.	X	542	.	ENSP00000391504:Q542X	Q	-	1	0	C2orf77	170210632	0.993000	0.37304	0.997000	0.53966	0.596000	0.36781	1.262000	0.32992	1.449000	0.47699	0.655000	0.94253	CAA		0.348	CCDC173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333954.2		NM_001085447		19	58	0	0	0	0.006122	0	19	58		
TTN	7273	broad.mit.edu	37	2	179471896	179471896	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:179471896C>T	ENST00000591111.1	-	228	48734	c.48510G>A	c.(48508-48510)tgG>tgA	p.W16170*	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.W8938*|TTN_ENST00000359218.5_Nonsense_Mutation_p.W8871*|TTN_ENST00000460472.2_Nonsense_Mutation_p.W8746*|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.W15243*|TTN_ENST00000589042.1_Nonsense_Mutation_p.W17811*			Q8WZ42	TITIN_HUMAN	titin	16170	Fibronectin type-III 17. {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)			TTGGTTGTCTCCAAGTATGCA	0.393																																						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.(45727-45729)TGG>TGA		titin isoform N2-A							239.0	226.0	230.0					2																	179471896		1882	4135	6017	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179471896C>T	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.48510G>A	2.37:g.179471896C>T	ENSP00000465570:p.Trp16170*					uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.W8938*|TTN_uc010zfi.1_Nonsense_Mutation_p.W8871*|TTN_uc010zfj.1_Nonsense_Mutation_p.W8746*	p.W15243*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		227	45953	-			16170					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.45729G>A		.	.	.	.	.	.	.	.	.	.	C	60	42.602462	0.99986	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.1551	0.98106	0.0:1.0:0.0:0.0	.	.	.	.	X	15243;8746;8938;8871;8746	.	ENSP00000340554:W8938X	W	-	3	0	TTN	179180141	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.857000	0.62939	2.760000	0.94817	0.655000	0.94253	TGG		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		32	175	0	0	0	0.012213	0	32	175		
TTN	7273	broad.mit.edu	37	2	179639030	179639030	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:179639030G>C	ENST00000591111.1	-	30	7185	c.6961C>G	c.(6961-6963)Cag>Gag	p.Q2321E	TTN-AS1_ENST00000585451.1_RNA|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q2275E|TTN_ENST00000359218.5_Missense_Mutation_p.Q2275E|TTN_ENST00000460472.2_Missense_Mutation_p.Q2275E|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q2321E|TTN_ENST00000360870.5_Missense_Mutation_p.Q2321E|TTN_ENST00000589042.1_Missense_Mutation_p.Q2321E|TTN-AS1_ENST00000610005.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12643	Ig-like 12.				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)			GTGAGGTTCTGACGTCCACGA	0.403																																						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.(6961-6963)CAG>GAG		titin isoform N2-A							171.0	156.0	161.0					2																	179639030		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179639030G>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.6961C>G	2.37:g.179639030G>C	ENSP00000465570:p.Gln2321Glu					TTN_uc010zfh.1_Missense_Mutation_p.Q2275E|TTN_uc010zfi.1_Missense_Mutation_p.Q2275E|TTN_uc010zfj.1_Missense_Mutation_p.Q2275E|TTN_uc002unb.2_Missense_Mutation_p.Q2321E|uc002unc.1_5'Flank	p.Q2321E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		30	7185	-			2321					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.6961C>G		.	.	.	.	.	.	.	.	.	.	G	14.79	2.639289	0.47153	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02	5.6	5.6	0.85130	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.47322	0.1439	L	0.34521	1.04	0.36880	D	0.889336	P;P;P;P;P	0.51147	0.625;0.625;0.625;0.625;0.942	B;B;B;B;P	0.50659	0.192;0.192;0.192;0.192;0.647	T	0.55205	-0.8177	9	0.87932	D	0	.	19.6137	0.95619	0.0:0.0:1.0:0.0	.	2275;2275;2275;2321;2321	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	E	2321;2275;2275;2275;2275;2321	ENSP00000343764:Q2321E;ENSP00000434586:Q2275E;ENSP00000340554:Q2275E;ENSP00000352154:Q2275E;ENSP00000354117:Q2321E	ENSP00000340554:Q2275E	Q	-	1	0	TTN	179347275	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.869000	0.99810	2.650000	0.89964	0.557000	0.71058	CAG		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		24	121	0	0	0	0.021523	0	24	121		
ITGAV	3685	broad.mit.edu	37	2	187514604	187514604	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:187514604C>G	ENST00000261023.3	+	14	1663	c.1389C>G	c.(1387-1389)atC>atG	p.I463M	ITGAV_ENST00000374907.3_Missense_Mutation_p.I427M|ITGAV_ENST00000433736.2_Missense_Mutation_p.I417M|AC017101.10_ENST00000453665.1_RNA	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	463					angiogenesis (GO:0001525)|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)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	ATCGAGCTATCTTATACAGGT	0.289																																					Melanoma(58;108 1995 6081)	uc002upq.2		NaN																	0				ovary(2)|kidney(1)|skin(1)	4						c.(1387-1389)ATC>ATG		integrin alpha-V isoform 1 precursor							96.0	92.0	93.0					2																	187514604		2203	4295	6498	SO:0001583	missense	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187514604C>G		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.1389C>G	2.37:g.187514604C>G	ENSP00000261023:p.Ile463Met					ITGAV_uc010frs.2_Missense_Mutation_p.I427M|ITGAV_uc010zfv.1_Missense_Mutation_p.I417M	p.I463M	NM_002210	NP_002201	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	14	1665	+			463			FG-GAP 7.|Extracellular (Potential).		A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Missense_Mutation	SNP	ENST00000261023.3	37	c.1389C>G	CCDS2292.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.168339	0.38315	.	.	ENSG00000138448	ENST00000544640;ENST00000261023;ENST00000374907;ENST00000433736	T;T;T	0.22743	1.94;1.94;1.94	5.33	-5.27	0.02763	.	0.410433	0.26812	N	0.022368	T	0.12475	0.0303	L	0.41824	1.3	0.31944	N	0.610522	B;B;B	0.31054	0.306;0.024;0.257	B;B;B	0.35353	0.173;0.061;0.201	T	0.06250	-1.0837	10	0.56958	D	0.05	.	3.1118	0.06361	0.1508:0.1113:0.4661:0.2718	.	417;427;463	E7EWZ6;P06756-2;P06756	.;.;ITAV_HUMAN	M	463;463;427;417	ENSP00000261023:I463M;ENSP00000364042:I427M;ENSP00000404291:I417M	ENSP00000261023:I463M	I	+	3	3	ITGAV	187222849	0.634000	0.27190	0.121000	0.21740	0.234000	0.25298	-0.254000	0.08781	-0.781000	0.04548	0.585000	0.79938	ATC		0.289	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2		NM_002210		6	49	0	0	0	0.001984	0	6	49		
CARF	79800	broad.mit.edu	37	2	203825996	203825996	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:203825996G>C	ENST00000402905.3	+	8	1000	c.679G>C	c.(679-681)Gag>Cag	p.E227Q	CARF_ENST00000320443.8_Missense_Mutation_p.E227Q|CARF_ENST00000471271.1_Intron|CARF_ENST00000545253.1_Missense_Mutation_p.E139Q|WDR12_ENST00000477723.1_Intron|CARF_ENST00000444724.1_Missense_Mutation_p.E227Q|CARF_ENST00000428585.1_Missense_Mutation_p.E151Q|CARF_ENST00000434998.1_Missense_Mutation_p.E125Q|CARF_ENST00000545262.1_Missense_Mutation_p.E151Q|CARF_ENST00000438828.2_Missense_Mutation_p.E227Q|CARF_ENST00000414439.1_Missense_Mutation_p.E125Q|CARF_ENST00000456821.2_Intron	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1	Q8N187	CARTF_HUMAN	calcium responsive transcription factor	227					cellular response to calcium ion (GO:0071277)|cellular response to potassium ion (GO:0035865)|positive regulation of transcription from RNA polymerase II promoter in response to calcium ion (GO:0061400)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CTGTGTAAGTGAGACTGAATT	0.413																																						uc002uzo.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(679-681)GAG>CAG		amyotrophic lateral sclerosis 2 (juvenile)							87.0	82.0	84.0					2																	203825996		1882	4122	6004	SO:0001583	missense	79800							g.chr2:203825996G>C	AB053309	CCDS42801.1, CCDS63091.1	2q33.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000138380	ENSG00000138380			14435	protein-coding gene	gene with protein product	"""calcium-response factor"""	607586	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8"""	ALS2CR8		11586298, 11832226	Standard	XM_005246858		Approved	FLJ21579, CaRF, NYD-SP24	uc002uzo.2	Q8N187	OTTHUMG00000154528	ENST00000402905.3:c.679G>C	2.37:g.203825996G>C	ENSP00000384006:p.Glu227Gln					ALS2CR8_uc002uzn.2_Missense_Mutation_p.E125Q|ALS2CR8_uc002uzm.2_Missense_Mutation_p.E227Q|ALS2CR8_uc010zhy.1_Intron|ALS2CR8_uc010zhz.1_Intron|ALS2CR8_uc010ftu.1_RNA|ALS2CR8_uc010zia.1_Missense_Mutation_p.E151Q|ALS2CR8_uc010zib.1_Missense_Mutation_p.E151Q|ALS2CR8_uc010zic.1_Missense_Mutation_p.E139Q|ALS2CR8_uc002uzp.2_Missense_Mutation_p.E227Q	p.E227Q	NM_001104586	NP_001098056	Q8N187	AL2S8_HUMAN			8	959	+			227					B4E1W7|G3V1K7|Q8ND29|Q8WXC0|Q96J78|Q96Q38|Q96Q39|Q9H712	Missense_Mutation	SNP	ENST00000402905.3	37	c.679G>C	CCDS42801.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.790123	0.90367	.	.	ENSG00000138380	ENST00000402905;ENST00000444724;ENST00000414439;ENST00000428585;ENST00000545253;ENST00000545262;ENST00000434998;ENST00000320443;ENST00000438828	.	.	.	5.22	5.22	0.72569	.	0.000000	0.64402	D	0.000001	T	0.68174	0.2972	L	0.34521	1.04	0.50313	D	0.999861	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.70185	-0.4941	9	0.59425	D	0.04	-11.7718	18.1256	0.89584	0.0:0.0:1.0:0.0	.	139;151;227;227	B4DIA7;G3V1K7;Q8N187;F6SXV3	.;.;AL2S8_HUMAN;.	Q	227;227;125;151;139;151;125;227;227	.	ENSP00000316224:E227Q	E	+	1	0	ALS2CR8	203534241	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.492000	0.81482	2.587000	0.87381	0.563000	0.77884	GAG		0.413	CARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335768.5		NM_001104586		22	41	0	0	0	0.016522	0	22	41		
CARF	79800	broad.mit.edu	37	2	203826043	203826043	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:203826043G>A	ENST00000402905.3	+	8	1047	c.726G>A	c.(724-726)caG>caA	p.Q242Q	CARF_ENST00000320443.8_Silent_p.Q242Q|CARF_ENST00000471271.1_Intron|CARF_ENST00000545253.1_Silent_p.Q154Q|WDR12_ENST00000477723.1_Intron|CARF_ENST00000444724.1_Silent_p.Q242Q|CARF_ENST00000428585.1_Silent_p.Q166Q|CARF_ENST00000434998.1_Silent_p.Q140Q|CARF_ENST00000545262.1_Silent_p.Q166Q|CARF_ENST00000438828.2_Silent_p.Q242Q|CARF_ENST00000414439.1_Silent_p.Q140Q|CARF_ENST00000456821.2_Intron	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1	Q8N187	CARTF_HUMAN	calcium responsive transcription factor	242					cellular response to calcium ion (GO:0071277)|cellular response to potassium ion (GO:0035865)|positive regulation of transcription from RNA polymerase II promoter in response to calcium ion (GO:0061400)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)										AGCAAACACAGAGTGTTTGGG	0.448																																						uc002uzo.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(724-726)CAG>CAA		amyotrophic lateral sclerosis 2 (juvenile)							77.0	76.0	76.0					2																	203826043		1902	4122	6024	SO:0001819	synonymous_variant	79800							g.chr2:203826043G>A	AB053309	CCDS42801.1, CCDS63091.1	2q33.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000138380	ENSG00000138380			14435	protein-coding gene	gene with protein product	"""calcium-response factor"""	607586	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8"""	ALS2CR8		11586298, 11832226	Standard	XM_005246858		Approved	FLJ21579, CaRF, NYD-SP24	uc002uzo.2	Q8N187	OTTHUMG00000154528	ENST00000402905.3:c.726G>A	2.37:g.203826043G>A						ALS2CR8_uc002uzn.2_Silent_p.Q140Q|ALS2CR8_uc002uzm.2_Silent_p.Q242Q|ALS2CR8_uc010zhy.1_Intron|ALS2CR8_uc010zhz.1_Intron|ALS2CR8_uc010ftu.1_RNA|ALS2CR8_uc010zia.1_Silent_p.Q166Q|ALS2CR8_uc010zib.1_Silent_p.Q166Q|ALS2CR8_uc010zic.1_Silent_p.Q154Q|ALS2CR8_uc002uzp.2_Silent_p.Q242Q	p.Q242Q	NM_001104586	NP_001098056	Q8N187	AL2S8_HUMAN			8	1006	+			242					B4E1W7|G3V1K7|Q8ND29|Q8WXC0|Q96J78|Q96Q38|Q96Q39|Q9H712	Silent	SNP	ENST00000402905.3	37	c.726G>A	CCDS42801.1																																																																																				0.448	CARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335768.5		NM_001104586		20	41	0	0	0	0.010504	0	20	41		
NDUFS1	4719	broad.mit.edu	37	2	207009731	207009731	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:207009731C>T	ENST00000233190.6	-	9	1023	c.757G>A	c.(757-759)Gta>Ata	p.V253I	NDUFS1_ENST00000455934.2_Missense_Mutation_p.V267I|NDUFS1_ENST00000457011.1_Missense_Mutation_p.V137I|NDUFS1_ENST00000432169.1_Missense_Mutation_p.V142I|NDUFS1_ENST00000423725.1_Missense_Mutation_p.V196I|NDUFS1_ENST00000440274.1_Missense_Mutation_p.V217I|NDUFS1_ENST00000449699.1_Missense_Mutation_p.V253I	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	253	4Fe-4S Mo/W bis-MGD-type. {ECO:0000255|PROSITE-ProRule:PRU01004}.		V -> G. {ECO:0000269|PubMed:22499341}.		apoptotic mitochondrial changes (GO:0008637)|ATP metabolic process (GO:0046034)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)	2 iron, 2 sulfur cluster binding (GO:0051537)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCATCCATTACATCAATGGAT	0.378																																						uc002vbe.2		NaN																	0				ovary(1)	1						c.(757-759)GTA>ATA		NADH dehydrogenase (ubiquinone) Fe-S protein 1,	NADH(DB00157)						165.0	143.0	150.0					2																	207009731		2203	4300	6503	SO:0001583	missense	4719				apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr2:207009731C>T		CCDS2366.1, CCDS56162.1, CCDS56163.1, CCDS56164.1, CCDS56165.1	2q33-q34	2011-07-04	2002-08-29		ENSG00000023228	ENSG00000023228	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7707	protein-coding gene	gene with protein product	"""complex I 75kDa subunit"", ""NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial"""	157655	"""NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase)"""			1935949	Standard	NM_005006		Approved	CI-75k	uc010ziq.2	P28331	OTTHUMG00000132892	ENST00000233190.6:c.757G>A	2.37:g.207009731C>T	ENSP00000233190:p.Val253Ile					NDUFS1_uc010ziq.1_Missense_Mutation_p.V267I|NDUFS1_uc010zir.1_Missense_Mutation_p.V217I|NDUFS1_uc010zis.1_Missense_Mutation_p.V196I|NDUFS1_uc010zit.1_Missense_Mutation_p.V142I|NDUFS1_uc010ziu.1_Missense_Mutation_p.V137I	p.V253I	NM_005006	NP_004997	P28331	NDUS1_HUMAN			9	884	-			253					B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9	Missense_Mutation	SNP	ENST00000233190.6	37	c.757G>A	CCDS2366.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.990618	0.93106	.	.	ENSG00000023228	ENST00000233190;ENST00000423725;ENST00000457011;ENST00000440274;ENST00000455934;ENST00000449699;ENST00000432169	D;D;D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.85771	0.5774	M	0.62154	1.92	0.80722	D	1	P;D;D;D	0.54964	0.884;0.969;0.969;0.969	P;P;P;P	0.48770	0.505;0.589;0.589;0.589	D	0.87504	0.2435	10	0.66056	D	0.02	-15.3554	19.0332	0.92967	0.0:1.0:0.0:0.0	.	142;217;267;253	B4DPG1;E7ENF3;B4DJA0;P28331	.;.;.;NDUS1_HUMAN	I	253;196;137;217;267;253;142	ENSP00000233190:V253I;ENSP00000397760:V196I;ENSP00000400976:V137I;ENSP00000409766:V217I;ENSP00000392709:V267I;ENSP00000399912:V253I;ENSP00000409689:V142I	ENSP00000233190:V253I	V	-	1	0	NDUFS1	206717976	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.673000	0.83973	2.563000	0.86464	0.655000	0.94253	GTA		0.378	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256391.4		NM_005006		14	73	0	0	0	0.020292	0	14	73		
AAMP	14	broad.mit.edu	37	2	219129789	219129789	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:219129789C>G	ENST00000248450.4	-	10	1353	c.1183G>C	c.(1183-1185)Gac>Cac	p.D395H	AAMP_ENST00000444053.1_Missense_Mutation_p.D396H|AAMP_ENST00000420660.1_Missense_Mutation_p.D376H			Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	395					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|positive regulation of endothelial cell migration (GO:0010595)|smooth muscle cell migration (GO:0014909)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCCGGTAGTCAGTAAGCAGG	0.607																																						uc002vhk.2		NaN																	0				ovary(1)	1						c.(1183-1185)GAC>CAC		angio-associated, migratory cell protein							71.0	78.0	76.0					2																	219129789		2203	4300	6503	SO:0001583	missense	14				angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding	g.chr2:219129789C>G	AB209790	CCDS33378.1	2q	2013-01-10			ENSG00000127837	ENSG00000127837		"""WD repeat domain containing"""	18	protein-coding gene	gene with protein product		603488				7743515	Standard	XM_005246325		Approved		uc002vhk.3	Q13685	OTTHUMG00000155202	ENST00000248450.4:c.1183G>C	2.37:g.219129789C>G	ENSP00000248450:p.Asp395His					AAMP_uc002vhj.2_Missense_Mutation_p.D376H|AAMP_uc010fvo.2_Missense_Mutation_p.D395H|AAMP_uc002vhl.2_Missense_Mutation_p.D396H	p.D395H	NM_001087	NP_001078	Q13685	AAMP_HUMAN		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	10	1267	-		Renal(207;0.0474)	395			WD 7.		Q8WUJ9|Q96H92	Missense_Mutation	SNP	ENST00000248450.4	37	c.1183G>C	CCDS33378.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.142701	0.77888	.	.	ENSG00000127837	ENST00000248450;ENST00000444053;ENST00000420660	T;T;T	0.60040	0.22;0.22;0.22	5.6	4.71	0.59529	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.045900	0.85682	D	0.000000	T	0.47691	0.1459	N	0.20685	0.6	0.53688	D	0.999972	P;P;P	0.46656	0.744;0.777;0.882	B;P;P	0.45343	0.382;0.477;0.477	T	0.52434	-0.8576	10	0.56958	D	0.05	-24.8935	13.894	0.63757	0.0:0.9272:0.0:0.0728	.	396;395;376	C9JEH3;Q13685;C9JG97	.;AAMP_HUMAN;.	H	395;396;376	ENSP00000248450:D395H;ENSP00000403343:D396H;ENSP00000416394:D376H	ENSP00000248450:D395H	D	-	1	0	AAMP	218838033	1.000000	0.71417	0.994000	0.49952	0.745000	0.42441	5.881000	0.69706	2.653000	0.90120	0.561000	0.74099	GAC		0.607	AAMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338756.1		NM_001087		33	156	0	0	0	0.010818	0	33	156		
PNKD	25953	broad.mit.edu	37	2	219209680	219209680	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:219209680G>A	ENST00000273077.4	+	10	1185	c.1134G>A	c.(1132-1134)ctG>ctA	p.L378L	PNKD_ENST00000258362.3_Silent_p.L354L|AC021016.8_ENST00000411433.1_RNA|PNKD_ENST00000436005.2_Silent_p.L318L	NM_015488.4	NP_056303.3	Q8N490	PNKD_HUMAN	paroxysmal nonkinesigenic dyskinesia	378	Substrate binding. {ECO:0000250}.				glutathione biosynthetic process (GO:0006750)|neuromuscular process controlling posture (GO:0050884)|regulation of dopamine metabolic process (GO:0042053)|regulation of synaptic transmission, dopaminergic (GO:0032225)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydroxyacylglutathione hydrolase activity (GO:0004416)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCGCCGGCTGAAGGATATGC	0.682																																						uc002vhn.2		NaN																	0					0						c.(1132-1134)CTG>CTA		myofibrillogenesis regulator 1 isoform 1							24.0	31.0	29.0					2																	219209680		2201	4298	6499	SO:0001819	synonymous_variant	25953					membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding	g.chr2:219209680G>A		CCDS2411.1, CCDS2413.1, CCDS42816.1	2q35	2011-01-21	2007-07-12		ENSG00000127838	ENSG00000127838			9153	protein-coding gene	gene with protein product	"""myofibrillogenesis regulator 1"""	609023	"""paroxysmal nonkinesiogenic dyskinesia"""			8659518	Standard	NM_015488		Approved	DYT8, PDC, DKFZp564N1362, FPD1, MR-1, BRP17, FKSG19, TAHCCP2, KIAA1184, KIPP1184, MGC31943, PKND1	uc002vhn.3	Q8N490	OTTHUMG00000133110	ENST00000273077.4:c.1134G>A	2.37:g.219209680G>A						PNKD_uc002vhq.2_Silent_p.L354L	p.L378L	NM_015488	NP_056303	Q8N490	PNKD_HUMAN		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	10	1278	+		Renal(207;0.0474)	378			Substrate (By similarity).		A8K1F2|Q96A48|Q9BU26|Q9NSX4|Q9ULN6|Q9Y4T1	Silent	SNP	ENST00000273077.4	37	c.1134G>A	CCDS2411.1																																																																																				0.682	PNKD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256775.2				14	42	0	0	0	0.020292	0	14	42		
STK36	27148	broad.mit.edu	37	2	219544683	219544683	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:219544683C>A	ENST00000295709.3	+	9	1295	c.1016C>A	c.(1015-1017)gCc>gAc	p.A339D	STK36_ENST00000392105.3_Missense_Mutation_p.A339D|STK36_ENST00000440309.1_Missense_Mutation_p.A339D|STK36_ENST00000392106.2_Missense_Mutation_p.A339D	NM_015690.4	NP_056505.2			serine/threonine kinase 36											biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CCTGGCACAGCCCCTCTGCCC	0.577																																						uc002viu.2		NaN																	0				ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	11						c.(1015-1017)GCC>GAC		serine/threonine kinase 36							83.0	82.0	83.0					2																	219544683		2203	4300	6503	SO:0001583	missense	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.chr2:219544683C>A	AB033104	CCDS2421.1, CCDS58750.1	2q35	2010-06-25	2010-06-25		ENSG00000163482	ENSG00000163482			17209	protein-coding gene	gene with protein product	"""fused homolog (Drosophila)"""	607652	"""serine/threonine kinase 36 (fused homolog, Drosophila)"""			10806483	Standard	NM_001243313		Approved	KIAA1278, FU	uc002viu.3	Q9NRP7	OTTHUMG00000133079	ENST00000295709.3:c.1016C>A	2.37:g.219544683C>A	ENSP00000295709:p.Ala339Asp					STK36_uc002viv.2_Missense_Mutation_p.A339D	p.A339D	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)	9	1282	+		Renal(207;0.0915)	339						Missense_Mutation	SNP	ENST00000295709.3	37	c.1016C>A	CCDS2421.1	.	.	.	.	.	.	.	.	.	.	C	9.271	1.045677	0.19748	.	.	ENSG00000163482	ENST00000295709;ENST00000392106;ENST00000392105;ENST00000440309	T;T;T;T	0.72615	-0.67;-0.66;-0.66;-0.67	4.96	3.11	0.35812	.	0.481340	0.17481	N	0.172702	T	0.57007	0.2024	L	0.29908	0.895	0.09310	N	1	B;B	0.31548	0.328;0.121	B;B	0.33042	0.157;0.075	T	0.52646	-0.8548	10	0.72032	D	0.01	-0.7617	7.4394	0.27174	0.3255:0.4927:0.1818:0.0	.	339;339	Q9NRP7-2;Q9NRP7	.;STK36_HUMAN	D	339	ENSP00000295709:A339D;ENSP00000375955:A339D;ENSP00000375954:A339D;ENSP00000394095:A339D	ENSP00000295709:A339D	A	+	2	0	STK36	219252927	0.000000	0.05858	0.083000	0.20561	0.391000	0.30476	-0.194000	0.09559	0.643000	0.30638	-0.211000	0.12701	GCC		0.577	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256723.2				20	103	1	0	3.99206e-14	0.007413	4.2957e-14	20	103		
CYP27A1	1593	broad.mit.edu	37	2	219679343	219679343	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:219679343C>T	ENST00000258415.4	+	8	1766	c.1339C>T	c.(1339-1341)Cac>Tac	p.H447Y		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	447					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol metabolic process (GO:0008203)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	cholestanetriol 26-monooxygenase activity (GO:0047749)|cholesterol 26-hydroxylase activity (GO:0031073)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Chenodeoxycholic acid(DB06777)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Pegvisomant(DB00082)	CTTCCAGCCCCACCGCTGGCT	0.607																																						uc002viz.3		NaN																	0				ovary(1)	1						c.(1339-1341)CAC>TAC		cytochrome P450, family 27, subfamily A,	Cholecalciferol(DB00169)						40.0	47.0	45.0					2																	219679343		2203	4298	6501	SO:0001583	missense	1593				bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding	g.chr2:219679343C>T	BC017044	CCDS2423.1	2q35	2013-09-19	2003-01-14		ENSG00000135929	ENSG00000135929		"""Cytochrome P450s"""	2605	protein-coding gene	gene with protein product	"""cerebrotendinous xanthomatosis"""	606530	"""cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1"""	CYP27		2019602	Standard	NM_000784		Approved	CTX, CP27	uc002viz.4	Q02318	OTTHUMG00000048238	ENST00000258415.4:c.1339C>T	2.37:g.219679343C>T	ENSP00000258415:p.His447Tyr						p.H447Y	NM_000784	NP_000775	Q02318	CP27A_HUMAN		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	8	1773	+		Renal(207;0.0474)	447					A8K303|Q6LDB4|Q86YQ6	Missense_Mutation	SNP	ENST00000258415.4	37	c.1339C>T	CCDS2423.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.484918	0.26598	.	.	ENSG00000135929	ENST00000258415	T	0.68181	-0.31	5.23	-3.24	0.05094	.	0.626464	0.17687	N	0.165415	T	0.38612	0.1047	N	0.16368	0.405	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.10042	-1.0647	10	0.48119	T	0.1	-0.72	1.2687	0.02016	0.2215:0.4018:0.1079:0.2688	.	447	Q02318	CP27A_HUMAN	Y	447	ENSP00000258415:H447Y	ENSP00000258415:H447Y	H	+	1	0	CYP27A1	219387587	0.000000	0.05858	0.144000	0.22314	0.959000	0.62525	-0.520000	0.06252	-0.674000	0.05253	-0.254000	0.11334	CAC		0.607	CYP27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109734.4				10	65	0	0	0	0.010729	0	10	65		
SCG2	7857	broad.mit.edu	37	2	224463499	224463499	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:224463499G>A	ENST00000305409.2	-	2	734	c.502C>T	c.(502-504)Cct>Tct	p.P168S		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0					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.P168S(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)		TCATACATAGGAGGGAATTGC	0.403																																						uc002vnm.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)	ovary(1)	1						c.(502-504)CCT>TCT		secretogranin II precursor							158.0	156.0	156.0					2																	224463499		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.chr2:224463499G>A	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.502C>T	2.37:g.224463499G>A	ENSP00000304133:p.Pro168Ser						p.P168S	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	635	-		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)	168					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000305409.2	37	c.502C>T	CCDS2457.1	.	.	.	.	.	.	.	.	.	.	G	2.554	-0.303468	0.05495	.	.	ENSG00000171951	ENST00000305409	T	0.01495	4.83	5.5	4.61	0.57282	.	0.409529	0.27460	N	0.019276	T	0.01870	0.0059	L	0.29908	0.895	0.09310	N	1	B	0.13594	0.008	B	0.13407	0.009	T	0.43556	-0.9384	10	0.42905	T	0.14	.	9.9603	0.41693	0.0721:0.1397:0.7883:0.0	.	168	P13521	SCG2_HUMAN	S	168	ENSP00000304133:P168S	ENSP00000304133:P168S	P	-	1	0	SCG2	224171743	0.153000	0.22777	0.625000	0.29200	0.952000	0.60782	2.241000	0.43097	1.416000	0.47057	0.585000	0.79938	CCT		0.403	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2		NM_003469		36	165	0	0	0	0.017118	0	36	165		
TRIP12	9320	broad.mit.edu	37	2	230656630	230656630	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:230656630C>A	ENST00000283943.5	-	28	4320	c.4142G>T	c.(4141-4143)aGc>aTc	p.S1381I	TRIP12_ENST00000389044.4_Missense_Mutation_p.S1429I|TRIP12_ENST00000389045.3_Missense_Mutation_p.S1111I	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1381					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TAGAGGATTGCTCTCATCATC	0.383																																						uc002vpw.1		NaN																	0				ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9						c.(4141-4143)AGC>ATC		thyroid hormone receptor interactor 12							194.0	188.0	190.0					2																	230656630		2203	4300	6503	SO:0001583	missense	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230656630C>A	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.4142G>T	2.37:g.230656630C>A	ENSP00000283943:p.Ser1381Ile					TRIP12_uc002vpx.1_Missense_Mutation_p.S1429I|TRIP12_uc002vpy.1_Missense_Mutation_p.S1111I	p.S1381I	NM_004238	NP_004229	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	28	4251	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	1381					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	c.4142G>T	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.235184	0.58886	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.47177	0.86;1.18;0.85	5.79	5.79	0.91817	.	0.080649	0.85682	D	0.000000	T	0.53465	0.1798	N	0.12746	0.255	0.80722	D	1	B;D;B	0.61080	0.232;0.989;0.435	B;D;B	0.66979	0.11;0.948;0.224	T	0.61317	-0.7087	10	0.72032	D	0.01	.	20.0205	0.97499	0.0:1.0:0.0:0.0	.	1111;1429;1381	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	I	1381;1111;1429	ENSP00000283943:S1381I;ENSP00000373697:S1111I;ENSP00000373696:S1429I	ENSP00000283943:S1381I	S	-	2	0	TRIP12	230364874	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.649000	0.67936	2.712000	0.92718	0.585000	0.79938	AGC		0.383	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3		NM_004238		39	218	1	0	6.21074e-16	0.011902	6.75875e-16	39	218		
NCL	4691	broad.mit.edu	37	2	232326368	232326368	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:232326368C>T	ENST00000322723.4	-	3	736	c.496G>A	c.(496-498)Gat>Aat	p.D166N	SNORD82_ENST00000365530.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	166	Asp/Glu-rich (acidic).				angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		tcatcttcatcctcatcctcg	0.517																																						uc002vru.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(496-498)GAT>AAT		nucleolin							463.0	290.0	349.0					2																	232326368		2203	4300	6503	SO:0001583	missense	4691				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding	g.chr2:232326368C>T		CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"""RNA binding motif (RRM) containing"""	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.496G>A	2.37:g.232326368C>T	ENSP00000318195:p.Asp166Asn					SNORD82_uc010fxw.1_5'Flank	p.D166N	NM_005381	NP_005372	P19338	NUCL_HUMAN		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)	3	637	-		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)	166			Asp/Glu-rich (acidic).		Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Missense_Mutation	SNP	ENST00000322723.4	37	c.496G>A	CCDS33397.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.151207	0.57151	.	.	ENSG00000115053	ENST00000322723;ENST00000392033;ENST00000322732;ENST00000454824;ENST00000417652;ENST00000453992	T;T;T;T	0.40225	2.67;1.72;1.72;1.04	4.64	4.64	0.57946	.	0.518631	0.19235	N	0.119301	T	0.33352	0.0860	N	0.22421	0.69	0.29968	N	0.818827	B	0.26635	0.155	B	0.28916	0.096	T	0.39563	-0.9608	10	0.62326	D	0.03	-12.4676	15.0633	0.71973	0.0:1.0:0.0:0.0	.	166	P19338	NUCL_HUMAN	N	166;108;166;150;150;150	ENSP00000318195:D166N;ENSP00000401620:D150N;ENSP00000392747:D150N;ENSP00000413775:D150N	ENSP00000318195:D166N	D	-	1	0	NCL	232034612	0.934000	0.31675	0.200000	0.23457	0.072000	0.16883	4.607000	0.61133	2.162000	0.67917	0.555000	0.69702	GAT		0.517	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332731.1		NM_005381		20	24	0	0	0	0.007413	0	20	24		
IQCA1	79781	broad.mit.edu	37	2	237396819	237396819	+	Missense_Mutation	SNP	T	T	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:237396819T>C	ENST00000409907.3	-	4	746	c.472A>G	c.(472-474)Agt>Ggt	p.S158G	IQCA1_ENST00000431676.2_Missense_Mutation_p.S158G|IQCA1_ENST00000309507.5_Missense_Mutation_p.S154G	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	158							ATP binding (GO:0005524)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						AAAGGGATACTCTTTACAGGG	0.398																																						uc002vvz.1		NaN																	0				ovary(1)	1						c.(472-474)AGT>GGT		IQ motif containing with AAA domain 1							56.0	54.0	55.0					2																	237396819		1943	4145	6088	SO:0001583	missense	79781						ATP binding	g.chr2:237396819T>C	AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"""ATPases / AAA-type"""	26195	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 11"""		"""IQ motif containing with AAA domain"""	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.472A>G	2.37:g.237396819T>C	ENSP00000387347:p.Ser158Gly					IQCA1_uc002vwb.2_Missense_Mutation_p.S165G|IQCA1_uc002vwa.1_RNA|IQCA1_uc010zni.1_Missense_Mutation_p.S158G	p.S158G	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN			4	654	-			158					B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Missense_Mutation	SNP	ENST00000409907.3	37	c.472A>G	CCDS46549.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.428|8.428	0.847942|0.847942	0.17034|0.17034	.|.	.|.	ENSG00000132321|ENSG00000132321	ENST00000418802|ENST00000409907;ENST00000457693;ENST00000309507;ENST00000431676;ENST00000412437	.|D;D;D	.|0.94184	.|-3.24;-3.25;-3.37	5.45|5.45	-8.52|-8.52	0.00920|0.00920	.|.	.|1.724360	.|0.02834	.|N	.|0.127139	D|D	0.85309|0.85309	0.5667|0.5667	N|N	0.21097|0.21097	0.63|0.63	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.06786	.|0.0;0.0;0.001	.|B;B;B	.|0.04013	.|0.001;0.001;0.001	T|T	0.74490|0.74490	-0.3648|-0.3648	5|10	.|0.20046	.|T	.|0.44	.|.	9.6281|9.6281	0.39763|0.39763	0.0:0.4132:0.364:0.2227|0.0:0.4132:0.364:0.2227	.|.	.|158;165;158	.|E7EWQ0;E9PH78;Q86XH1	.|.;.;IQCA1_HUMAN	G|G	176|158;165;154;158;154	.|ENSP00000387347:S158G;ENSP00000311951:S154G;ENSP00000407213:S158G	.|ENSP00000254653:S158G	E|S	-|-	2|1	0|0	IQCA1|IQCA1	237061558|237061558	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.005000|0.005000	0.04900|0.04900	-2.798000|-2.798000	0.00762|0.00762	-1.832000|-1.832000	0.01196|0.01196	-0.250000|-0.250000	0.11733|0.11733	GAG|AGT		0.398	IQCA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329266.1		NM_024726		5	20	0	0	0	0.014758	0	5	20		
RBM44	375316	broad.mit.edu	37	2	238726129	238726129	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:238726129C>T	ENST00000409864.1	+	3	824	c.570C>T	c.(568-570)caC>caT	p.H190H	RBM44_ENST00000316997.4_Silent_p.H190H|RBM44_ENST00000444524.2_Intron			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	189						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		AGGAATATCACAGTGCAGAAG	0.333																																						uc002vxi.3		NaN																	0				ovary(4)	4						c.(568-570)CAC>CAT		RNA binding motif protein 44							27.0	27.0	27.0					2																	238726129		1891	4096	5987	SO:0001819	synonymous_variant	375316						nucleotide binding|RNA binding	g.chr2:238726129C>T	AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"""RNA binding motif (RRM) containing"""	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.570C>T	2.37:g.238726129C>T							p.H190H	NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)	3	702	+		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	189					A0AUW3	Silent	SNP	ENST00000409864.1	37	c.570C>T	CCDS46554.1																																																																																				0.333	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328733.2		NM_001080504		8	26	0	0	0	0.004482	0	8	26		
PER2	8864	broad.mit.edu	37	2	239167208	239167208	+	Missense_Mutation	SNP	C	C	T	rs369727558		TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:239167208C>T	ENST00000254657.3	-	15	1984	c.1705G>A	c.(1705-1707)Gag>Aag	p.E569K	PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	569	CSNK1E binding domain. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GCCAACTCCTCGGGGAAGCTG	0.552																																						uc002vyc.2		NaN																	0				upper_aerodigestive_tract(1)|breast(1)	2						c.(1705-1707)GAG>AAG		period 2		C	LYS/GLU	0,4406		0,0,2203	74.0	66.0	69.0		1705	4.2	0.9	2		69	1,8599	1.2+/-3.3	0,1,4299	no	missense	PER2	NM_022817.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	569/1256	239167208	1,13005	2203	4300	6503	SO:0001583	missense	8864				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	g.chr2:239167208C>T	AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"""period (Drosophila) homolog 2"", ""period homolog 2 (Drosophila)"""			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.1705G>A	2.37:g.239167208C>T	ENSP00000254657:p.Glu569Lys					PER2_uc010znv.1_Missense_Mutation_p.E569K	p.E569K	NM_022817	NP_073728	O15055	PER2_HUMAN		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)	15	1942	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)	569			CSNK1E binding domain (By similarity).		A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	ENST00000254657.3	37	c.1705G>A	CCDS2528.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.829809	0.50845	0.0	1.16E-4	ENSG00000132326	ENST00000254657	T	0.11821	2.74	4.23	4.23	0.50019	.	0.544685	0.21309	N	0.076673	T	0.38772	0.1053	M	0.84585	2.705	0.80722	D	1	D;P	0.76494	0.999;0.895	D;B	0.71184	0.972;0.219	T	0.27331	-1.0077	10	0.45353	T	0.12	-33.3227	12.4962	0.55929	0.0:1.0:0.0:0.0	.	569;569	B4DH14;O15055	.;PER2_HUMAN	K	569	ENSP00000254657:E569K	ENSP00000254657:E569K	E	-	1	0	PER2	238831947	1.000000	0.71417	0.908000	0.35775	0.022000	0.10575	3.488000	0.53229	2.104000	0.64026	0.555000	0.69702	GAG		0.552	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1		NM_022817		11	47	0	0	0	0.008291	0	11	47		
TGM3	7053	broad.mit.edu	37	20	2320505	2320505	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr20:2320505G>A	ENST00000381458.5	+	12	1869	c.1806G>A	c.(1804-1806)ctG>ctA	p.L602L		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	602					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	CATAGGTGCTGAACGAGGCTC	0.637																																						uc002wfx.3		NaN																	0				large_intestine(4)|ovary(3)|breast(1)|skin(1)	9						c.(1804-1806)CTG>CTA		transglutaminase 3 precursor	L-Glutamine(DB00130)						66.0	59.0	62.0					20																	2320505		2203	4300	6503	SO:0001819	synonymous_variant	7053				cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2320505G>A	L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"""Transglutaminases"""	11779	protein-coding gene	gene with protein product	"""E polypeptide, protein-glutamine-gamma-glutamyltransferase"""	600238	"""transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.1806G>A	20.37:g.2320505G>A							p.L602L	NM_003245	NP_003236	Q08188	TGM3_HUMAN			12	1903	+			602					A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Silent	SNP	ENST00000381458.5	37	c.1806G>A	CCDS33435.1																																																																																				0.637	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2		NM_003245		6	17	0	0	0	0.00308	0	6	17		
PCED1A	64773	broad.mit.edu	37	20	2819730	2819730	+	Splice_Site	SNP	T	T	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr20:2819730T>C	ENST00000360652.2	-	4	707		c.e4-2		PCED1A_ENST00000356872.3_Intron|VPS16_ENST00000380469.3_5'Flank|VPS16_ENST00000380445.3_5'Flank	NM_022760.4	NP_073597.2	Q9H1Q7	PED1A_HUMAN	PC-esterase domain containing 1A																		CAGCTCCCCCTACCCACCCCC	0.652																																						uc002wgz.1		NaN																	0				ovary(2)	2						c.e4-1		hypothetical protein LOC64773							21.0	25.0	24.0					20																	2819730		2202	4299	6501	SO:0001630	splice_region_variant	64773						hydrolase activity|protein binding	g.chr20:2819730T>C	AK026029	CCDS13035.1, CCDS59442.1	20p13	2012-06-11	2012-06-11	2012-06-11	ENSG00000132635	ENSG00000132635			16212	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 81"", ""family with sequence similarity 113, member A"""	C20orf81, FAM113A		20056006	Standard	NM_022760		Approved	bA12M19.1, FLJ22376	uc002wgz.2	Q9H1Q7	OTTHUMG00000031716	ENST00000360652.2:c.205-2A>G	20.37:g.2819730T>C						FAM113A_uc002whb.1_Intron|FAM113A_uc002wha.1_Splice_Site|FAM113A_uc010zqa.1_5'UTR|FAM113A_uc002whc.1_Intron|VPS16_uc002whe.2_5'Flank|VPS16_uc002whf.2_5'Flank|VPS16_uc002whd.2_5'Flank	p.G69_splice	NM_022760	NP_073597	Q9H1Q7	F113A_HUMAN			4	702	-								Q5JUA5|Q5JUA6|Q6PK19|Q86WF5|Q96CG7|Q9H1Q6|Q9H6D1	Splice_Site	SNP	ENST00000360652.2	37	c.205_splice	CCDS13035.1	.	.	.	.	.	.	.	.	.	.	T	14.35	2.509735	0.44660	.	.	ENSG00000132635	ENST00000360652;ENST00000380531;ENST00000439542	.	.	.	3.89	3.89	0.44902	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0038	0.47622	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM113A	2767730	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	6.684000	0.74538	1.784000	0.52394	0.454000	0.30748	.		0.652	PCED1A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077676.2		NM_022760	Intron	3	19	0	0	0	0.009096	0	3	19		
TRMT6	51605	broad.mit.edu	37	20	5923084	5923084	+	Missense_Mutation	SNP	T	T	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr20:5923084T>C	ENST00000203001.2	-	7	1146	c.1016A>G	c.(1015-1017)aAa>aGa	p.K339R	TRMT6_ENST00000473131.1_5'UTR|TRMT6_ENST00000453074.2_Missense_Mutation_p.K169R	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	339					regulation of translational initiation (GO:0006446)|tRNA processing (GO:0008033)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						ATAATCTTTTTTGCTTCCTCT	0.453																																						uc002wmh.1		NaN																	0				pancreas(1)	1						c.(1015-1017)AAA>AGA		tRNA methyltransferase 6							210.0	193.0	199.0					20																	5923084		2203	4300	6503	SO:0001583	missense	51605				regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity	g.chr20:5923084T>C	AK000613	CCDS13093.1, CCDS63225.1	20p12.3	2009-01-12			ENSG00000089195	ENSG00000089195			20900	protein-coding gene	gene with protein product						16043508	Standard	NM_001281467		Approved	GCD10, MGC5029, Gcd10p, CGI-09	uc002wmh.1	Q9UJA5	OTTHUMG00000031816	ENST00000203001.2:c.1016A>G	20.37:g.5923084T>C	ENSP00000203001:p.Lys339Arg					TRMT6_uc010zra.1_Missense_Mutation_p.K169R|TRMT6_uc010gbn.1_Missense_Mutation_p.K169R|TRMT6_uc010gbo.1_RNA	p.K339R	NM_015939	NP_057023	Q9UJA5	TRM6_HUMAN			7	1138	-			339					B4DUV6|Q76P92|Q9BQV5|Q9ULR7|Q9Y2Z8	Missense_Mutation	SNP	ENST00000203001.2	37	c.1016A>G	CCDS13093.1	.	.	.	.	.	.	.	.	.	.	T	14.04	2.415310	0.42817	.	.	ENSG00000089195	ENST00000203001;ENST00000453074	T;T	0.25579	1.81;1.79	6.17	1.24	0.21308	.	0.378699	0.30959	N	0.008527	T	0.17066	0.0410	L	0.48642	1.525	0.42764	D	0.993818	B;B	0.12013	0.001;0.005	B;B	0.16289	0.015;0.004	T	0.10042	-1.0647	10	0.15952	T	0.53	-10.6682	5.553	0.17101	0.0:0.1949:0.2385:0.5666	.	169;339	B4DUV6;Q9UJA5	.;TRM6_HUMAN	R	339;169	ENSP00000203001:K339R;ENSP00000392070:K169R	ENSP00000203001:K339R	K	-	2	0	TRMT6	5871084	0.994000	0.37717	0.989000	0.46669	0.955000	0.61496	0.133000	0.15912	0.211000	0.20683	0.533000	0.62120	AAA		0.453	TRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077889.2				78	50	0	0	0	0.01441	0	78	50		
RRBP1	6238	broad.mit.edu	37	20	17599273	17599273	+	Missense_Mutation	SNP	C	C	T	rs149077359		TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr20:17599273C>T	ENST00000377813.1	-	20	4030	c.3727G>A	c.(3727-3729)Gaa>Aaa	p.E1243K	RRBP1_ENST00000455029.2_Missense_Mutation_p.E584K|RRBP1_ENST00000360807.4_Missense_Mutation_p.E810K|RRBP1_ENST00000377807.2_Missense_Mutation_p.E810K|RRBP1_ENST00000246043.4_Missense_Mutation_p.E1243K|RRBP1_ENST00000470422.1_5'UTR			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1243					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						TTCTGGGCTTCGCTCTTGGCG	0.552																																						uc002wpv.1		NaN																	0				ovary(1)	1						c.(2428-2430)GAA>AAA		ribosome binding protein 1		C	LYS/GLU,LYS/GLU	0,4406		0,0,2203	93.0	85.0	88.0		2428,2428	5.1	1.0	20	dbSNP_134	88	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	RRBP1	NM_001042576.1,NM_004587.2	56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	810/978,810/978	17599273	1,13005	2203	4300	6503	SO:0001583	missense	6238				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity	g.chr20:17599273C>T	AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"""ribosome binding protein 1 (dog 180kD homolog)"", ""ribosome binding protein 1 homolog 180kDa (dog)"""			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.3727G>A	20.37:g.17599273C>T	ENSP00000367044:p.Glu1243Lys					RRBP1_uc010zrp.1_5'UTR|RRBP1_uc002wpt.1_Missense_Mutation_p.E180K|RRBP1_uc002wpu.2_Missense_Mutation_p.E584K|RRBP1_uc002wpw.1_Missense_Mutation_p.E810K|RRBP1_uc010gcl.1_Missense_Mutation_p.E584K	p.E810K	NM_001042576	NP_001036041	Q9P2E9	RRBP1_HUMAN			21	2782	-			1243			Cytoplasmic (Potential).		A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Missense_Mutation	SNP	ENST00000377813.1	37	c.2428G>A		.	.	.	.	.	.	.	.	.	.	C	20.6	4.022588	0.75275	0.0	1.16E-4	ENSG00000125844	ENST00000360807;ENST00000377813;ENST00000377807;ENST00000246043;ENST00000455029	T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5	5.11	5.11	0.69529	.	0.000000	0.38548	N	0.001643	T	0.54334	0.1852	M	0.71206	2.165	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	T	0.47886	-0.9082	10	0.27785	T	0.31	-26.9199	17.4697	0.87642	0.0:1.0:0.0:0.0	.	810;1243	Q9P2E9-3;Q9P2E9	.;RRBP1_HUMAN	K	810;1243;810;1243;584	ENSP00000354045:E810K;ENSP00000367044:E1243K;ENSP00000367038:E810K;ENSP00000246043:E1243K;ENSP00000401206:E584K	ENSP00000246043:E1243K	E	-	1	0	RRBP1	17547273	1.000000	0.71417	0.980000	0.43619	0.331000	0.28603	6.125000	0.71627	2.554000	0.86153	0.655000	0.94253	GAA		0.552	RRBP1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000078125.1		NM_001042576		22	50	0	0	0	0.016522	0	22	50		
SLC24A3	57419	broad.mit.edu	37	20	19566112	19566112	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr20:19566112G>C	ENST00000328041.6	+	6	733	c.536G>C	c.(535-537)gGa>gCa	p.G179A		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	179					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGCGATGTGGGAGTTGGCACC	0.547																																						uc002wrl.2		NaN																	0				ovary(1)	1						c.(535-537)GGA>GCA		solute carrier family 24							287.0	252.0	264.0					20																	19566112		2203	4300	6503	SO:0001583	missense	57419					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr20:19566112G>C	AF169257	CCDS13140.1	20p13	2013-05-22			ENSG00000185052	ENSG00000185052		"""Solute carriers"""	10977	protein-coding gene	gene with protein product		609839					Standard	NM_020689		Approved		uc002wrl.3	Q9HC58	OTTHUMG00000031993	ENST00000328041.6:c.536G>C	20.37:g.19566112G>C	ENSP00000333519:p.Gly179Ala						p.G179A	NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN			6	733	+			179			Extracellular (Potential).|Alpha-1.		B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Missense_Mutation	SNP	ENST00000328041.6	37	c.536G>C	CCDS13140.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878767	0.91740	.	.	ENSG00000185052	ENST00000328041	T	0.60299	0.2	5.63	5.63	0.86233	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	T	0.72179	0.3428	L	0.53671	1.685	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69803	-0.5046	9	.	.	.	.	17.1718	0.86832	0.0:0.0:1.0:0.0	.	179	Q9HC58	NCKX3_HUMAN	A	179	ENSP00000333519:G179A	.	G	+	2	0	SLC24A3	19514112	1.000000	0.71417	0.925000	0.36789	0.967000	0.64934	9.405000	0.97313	2.650000	0.89964	0.467000	0.42956	GGA		0.547	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078207.4		NM_020689		42	154	0	0	0	0.011902	0	42	154		
BPIFB3	359710	broad.mit.edu	37	20	31654681	31654681	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr20:31654681G>A	ENST00000375494.3	+	9	976	c.976G>A	c.(976-978)Gag>Aag	p.E326K		NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	326					innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.E326K(1)									TTTGCTCCCTGAGGTGAGTGA	0.522																																						uc002wym.1		NaN																	1	Substitution - Missense(1)		breast(1)	ovary(4)	4						c.(976-978)GAG>AAG		antimicrobial peptide RYA3 precursor							180.0	141.0	155.0					20																	31654681		2203	4300	6503	SO:0001583	missense	359710				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding	g.chr20:31654681G>A	AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"""BPI fold containing"""	16178	protein-coding gene	gene with protein product		615717	"""chromosome 20 open reading frame 185"""	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	ENST00000375494.3:c.976G>A	20.37:g.31654681G>A	ENSP00000364643:p.Glu326Lys						p.E326K	NM_182658	NP_872599	P59826	LPLC3_HUMAN			9	976	+			326					Q5TDX7	Missense_Mutation	SNP	ENST00000375494.3	37	c.976G>A	CCDS13212.1	.	.	.	.	.	.	.	.	.	.	G	7.773	0.707920	0.15239	.	.	ENSG00000186190	ENST00000375494	T	0.08282	3.11	5.45	4.48	0.54585	.	0.212620	0.33057	N	0.005334	T	0.10337	0.0253	L	0.42245	1.32	0.34009	D	0.65119	P	0.43231	0.801	P	0.46419	0.516	T	0.08806	-1.0704	10	0.20519	T	0.43	-27.5709	10.3677	0.44035	0.0906:0.0:0.9094:0.0	.	326	P59826	BPIB3_HUMAN	K	326	ENSP00000364643:E326K	ENSP00000364643:E326K	E	+	1	0	BPIFB3	31118342	0.992000	0.36948	0.999000	0.59377	0.650000	0.38633	1.532000	0.36029	2.838000	0.97847	0.561000	0.74099	GAG		0.522	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078654.2		NM_182658		29	93	0	0	0	0.008361	0	29	93		
TOP1	7150	broad.mit.edu	37	20	39741425	39741425	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr20:39741425G>A	ENST00000361337.2	+	14	1562	c.1312G>A	c.(1312-1314)Gag>Aag	p.E438K	RP1-1J6.2_ENST00000454626.1_RNA	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	438					chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|DNA topological change (GO:0006265)|embryonic cleavage (GO:0040016)|phosphorylation (GO:0016310)|programmed cell death (GO:0012501)|response to drug (GO:0042493)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|replication fork protection complex (GO:0031298)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|poly(A) RNA binding (GO:0044822)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Sodium stibogluconate(DB05630)|Topotecan(DB01030)	TTTACAGGGTGAGAAGGACTG	0.463			T	NUP98	AML*																																	uc002xjl.2		NaN		Dom	yes		20	20q12-q13.1	7150	T	topoisomerase (DNA) I			L	NUP98		AML*		0				breast(3)|ovary(2)|central_nervous_system(1)|kidney(1)	7						c.(1312-1314)GAG>AAG		DNA topoisomerase I	Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)						65.0	62.0	63.0					20																	39741425		2203	4300	6503	SO:0001583	missense	7150				DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding	g.chr20:39741425G>A		CCDS13312.1	20q12-q13.1	1990-06-22			ENSG00000198900	ENSG00000198900	5.99.1.2		11986	protein-coding gene	gene with protein product		126420					Standard	NM_003286		Approved		uc010ggd.1	P11387	OTTHUMG00000033057	ENST00000361337.2:c.1312G>A	20.37:g.39741425G>A	ENSP00000354522:p.Glu438Lys					uc002xjn.1_Intron	p.E438K	NM_003286	NP_003277	P11387	TOP1_HUMAN			14	1558	+		Myeloproliferative disorder(115;0.00878)	438					A8KA78|E1P5W3|O43256|Q12855|Q12856|Q15610|Q5TFY3|Q9UJN0	Missense_Mutation	SNP	ENST00000361337.2	37	c.1312G>A	CCDS13312.1	.	.	.	.	.	.	.	.	.	.	G	36	5.741718	0.96873	.	.	ENSG00000198900	ENST00000361337	T	0.42900	0.96	5.6	5.6	0.85130	DNA breaking-rejoining enzyme, catalytic core (1);DNA topoisomerase I, C-terminal, eukaryotic-type (1);DNA topoisomerase I, catalytic core, eukaryotic-type (1);DNA topoisomerase I, catalytic core, alpha-helical subdomain, eukaryotic-type (1);	0.000000	0.85682	D	0.000000	T	0.67306	0.2879	M	0.74647	2.275	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.69191	-0.5210	10	0.66056	D	0.02	-23.6228	19.6239	0.95670	0.0:0.0:1.0:0.0	.	438	P11387	TOP1_HUMAN	K	438	ENSP00000354522:E438K	ENSP00000354522:E438K	E	+	1	0	TOP1	39174839	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	8.017000	0.88712	2.633000	0.89246	0.650000	0.86243	GAG		0.463	TOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080397.2				8	53	0	0	0	0.00308	0	8	53		
NCOA5	57727	broad.mit.edu	37	20	44692158	44692158	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr20:44692158C>T	ENST00000290231.6	-	7	1155	c.991G>A	c.(991-993)Gag>Aag	p.E331K		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	331					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				ACTCCCTCCTCAGGGCCTCCT	0.577																																						uc002xrd.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(991-993)GAG>AAG		nuclear receptor coactivator 5							70.0	61.0	64.0					20																	44692158		2203	4300	6503	SO:0001583	missense	57727				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding	g.chr20:44692158C>T		CCDS13392.1	20q12-q13.12	2008-07-02			ENSG00000124160	ENSG00000124160			15909	protein-coding gene	gene with protein product	"""coactivator independent of AF-2"""					11780052, 11113208	Standard	XM_005260474		Approved	bA465L10.6, CIA	uc002xre.3	Q9HCD5	OTTHUMG00000032639	ENST00000290231.6:c.991G>A	20.37:g.44692158C>T	ENSP00000290231:p.Glu331Lys					NCOA5_uc002xrc.2_Missense_Mutation_p.E219K|NCOA5_uc002xre.2_Missense_Mutation_p.E331K	p.E331K	NM_020967	NP_066018	Q9HCD5	NCOA5_HUMAN			6	1519	-		Myeloproliferative disorder(115;0.0122)	331					B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	Missense_Mutation	SNP	ENST00000290231.6	37	c.991G>A	CCDS13392.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.546969	0.65198	.	.	ENSG00000124160	ENST00000290231	T	0.48836	0.8	5.41	5.41	0.78517	.	0.374136	0.27971	N	0.017114	T	0.38532	0.1044	L	0.34521	1.04	0.39288	D	0.96468	B	0.10296	0.003	B	0.11329	0.006	T	0.22765	-1.0207	10	0.12766	T	0.61	-9.8135	18.3708	0.90406	0.0:1.0:0.0:0.0	.	331	Q9HCD5	NCOA5_HUMAN	K	331	ENSP00000290231:E331K	ENSP00000290231:E331K	E	-	1	0	NCOA5	44125565	1.000000	0.71417	0.663000	0.29738	0.950000	0.60333	5.762000	0.68809	2.816000	0.96949	0.561000	0.74099	GAG		0.577	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079559.1		NM_020967		7	63	0	0	0	0.001984	0	7	63		
ZNFX1	57169	broad.mit.edu	37	20	47887564	47887564	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr20:47887564G>C	ENST00000396105.1	-	3	1031	c.785C>G	c.(784-786)tCt>tGt	p.S262C	ZNFX1_ENST00000371752.1_Missense_Mutation_p.S262C|ZNFX1_ENST00000371754.4_Missense_Mutation_p.S262C	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	262							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TTCCTGCACAGAGCTGGCAGG	0.507																																						uc002xui.2		NaN																	0				ovary(2)	2						c.(784-786)TCT>TGT		zinc finger, NFX1-type containing 1							107.0	108.0	108.0					20																	47887564		2203	4300	6503	SO:0001583	missense	57169						metal ion binding	g.chr20:47887564G>C	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.785C>G	20.37:g.47887564G>C	ENSP00000379412:p.Ser262Cys						p.S262C	NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		3	1032	-			262					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	c.785C>G	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.485703	0.63962	.	.	ENSG00000124201	ENST00000396106;ENST00000371754;ENST00000371752;ENST00000396105;ENST00000371744;ENST00000455070	T;T;T;T;D	0.82803	-0.36;-0.36;-0.36;-0.36;-1.65	5.87	5.87	0.94306	.	0.053486	0.85682	D	0.000000	D	0.89174	0.6640	M	0.63843	1.955	0.58432	D	0.999998	D	0.71674	0.998	P	0.62014	0.897	D	0.88047	0.2785	10	0.45353	T	0.12	-13.9015	18.783	0.91942	0.0:0.0:1.0:0.0	.	262	Q9P2E3	ZNFX1_HUMAN	C	262;262;262;262;262;66	ENSP00000360819:S262C;ENSP00000360817:S262C;ENSP00000379412:S262C;ENSP00000360809:S262C;ENSP00000413800:S66C	ENSP00000360809:S262C	S	-	2	0	ZNFX1	47320971	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.594000	0.98254	2.780000	0.95670	0.655000	0.94253	TCT		0.507	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2		NM_021035		26	107	0	0	0	0.021523	0	26	107		
ZNF831	128611	broad.mit.edu	37	20	57828035	57828035	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr20:57828035C>G	ENST00000371030.2	+	4	4030	c.4030C>G	c.(4030-4032)Ctg>Gtg	p.L1344V		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1344							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCTTGCAGGTCTGAATCTGCA	0.458																																						uc002yan.2		NaN																	0		p.L1344L(1)		skin(13)|ovary(1)	14						c.(4030-4032)CTG>GTG		zinc finger protein 831							60.0	58.0	59.0					20																	57828035		1872	4112	5984	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57828035C>G	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.4030C>G	20.37:g.57828035C>G	ENSP00000360069:p.Leu1344Val						p.L1344V	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			4	4030	+	all_lung(29;0.0085)		1344					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.4030C>G	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	2.439	-0.329096	0.05314	.	.	ENSG00000124203	ENST00000371030	T	0.04809	3.55	5.0	1.86	0.25419	.	1.928230	0.03207	N	0.175612	T	0.05502	0.0145	N	0.22421	0.69	0.09310	N	1	B	0.14438	0.01	B	0.10450	0.005	T	0.48736	-0.9009	10	0.22706	T	0.39	0.0576	12.8685	0.57953	0.0:0.5159:0.4841:0.0	.	1344	Q5JPB2	ZN831_HUMAN	V	1344	ENSP00000360069:L1344V	ENSP00000360069:L1344V	L	+	1	2	ZNF831	57261430	0.435000	0.25577	0.081000	0.20488	0.016000	0.09150	0.753000	0.26376	0.123000	0.18342	0.563000	0.77884	CTG		0.458	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2		NM_178457		25	57	0	0	0	0.01892	0	25	57		
ZNF831	128611	broad.mit.edu	37	20	57829687	57829687	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr20:57829687C>T	ENST00000371030.2	+	5	4923	c.4923C>T	c.(4921-4923)gcC>gcT	p.A1641A		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1641							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TTCCTGAAGCCCCTTCTAAAT	0.463																																						uc002yan.2		NaN																	0				skin(13)|ovary(1)	14						c.(4921-4923)GCC>GCT		zinc finger protein 831							60.0	59.0	59.0					20																	57829687		1848	4097	5945	SO:0001819	synonymous_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57829687C>T	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.4923C>T	20.37:g.57829687C>T							p.A1641A	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			5	4923	+	all_lung(29;0.0085)		1641					Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	c.4923C>T	CCDS42894.1																																																																																				0.463	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2		NM_178457		48	88	0	0	0	0.01441	0	48	88		
LSM14B	149986	broad.mit.edu	37	20	60704841	60704841	+	Splice_Site	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr20:60704841G>A	ENST00000279068.6	+	4	588	c.428G>A	c.(427-429)gGa>gAa	p.G143E	LSM14B_ENST00000253001.4_Intron	NM_144703.2	NP_653304.2	Q9BX40	LS14B_HUMAN	LSM14B, SCD6 homolog B (S. cerevisiae)	143					multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)	ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			CTCAATTCAGGAGCTGGTTTT	0.498																																						uc010gjy.1		NaN																	0					0						c.(427-429)GGA>GAA		LSM14 homolog B							23.0	23.0	23.0					20																	60704841		1874	4113	5987	SO:0001630	splice_region_variant	149986				multicellular organismal development|regulation of translation	ribonucleoprotein complex		g.chr20:60704841G>A	AF172328	CCDS46626.1	20q13.33	2010-01-27	2006-12-21	2006-01-24	ENSG00000149657	ENSG00000149657			15887	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 40"", ""family with sequence similarity 61, member B"", ""LSM14 homolog B (SCD6, S. cerevisiae)"""	C20orf40, FAM61B			Standard	NM_144703		Approved	FT005, bA11M20.3, FLJ25473, LSM13, RAP55B	uc010gjy.1	Q9BX40	OTTHUMG00000032901	ENST00000279068.6:c.428-1G>A	20.37:g.60704841G>A						LSM14B_uc010gjx.1_Missense_Mutation_p.G169E|LSM14B_uc002ybv.2_Missense_Mutation_p.G143E|LSM14B_uc010gjz.1_Missense_Mutation_p.G99E|LSM14B_uc010zzz.1_Missense_Mutation_p.G63E	p.G143E	NM_144703	NP_653304	Q9BX40	LS14B_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.28e-07)		4	634	+	Breast(26;3.97e-09)		143					Q6PFW8|Q96LH8	Missense_Mutation	SNP	ENST00000279068.6	37	c.428G>A	CCDS46626.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.874004	0.51695	.	.	ENSG00000149657	ENST00000279068;ENST00000444156;ENST00000400318;ENST00000279069;ENST00000370906;ENST00000361670	T;T;T	0.53423	0.77;0.71;0.62	5.35	5.35	0.76521	.	.	.	.	.	T	0.54695	0.1874	M	0.72894	2.215	0.80722	D	1	P;P;D;P	0.53619	0.651;0.953;0.961;0.732	B;P;B;B	0.47744	0.122;0.556;0.36;0.258	T	0.57642	-0.7776	8	.	.	.	.	14.6571	0.68841	0.0:0.1451:0.8549:0.0	.	63;99;143;169	E9PG81;C9J454;Q9BX40;Q5TBQ0	.;.;LS14B_HUMAN;.	E	143;99;169;143;99;63	ENSP00000279068:G143E;ENSP00000383172:G169E;ENSP00000355209:G63E	.	G	+	2	0	LSM14B	60138236	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.533000	0.60615	2.513000	0.84729	0.555000	0.69702	GGA		0.498	LSM14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079996.4		NM_144703	Missense_Mutation	5	6	0	0	0	0.014758	0	5	6		
LAMA5	3911	broad.mit.edu	37	20	60908513	60908513	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr20:60908513C>T	ENST00000252999.3	-	25	3112	c.3046G>A	c.(3046-3048)Gca>Aca	p.A1016T	MIR4758_ENST00000577688.1_RNA	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1016	Domain IV 1 (domain IV B).				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			TCGTAGTATGCGCTAGGCAGC	0.682																																						uc002ycq.2		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(3046-3048)GCA>ACA		laminin alpha 5 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						37.0	37.0	37.0					20																	60908513		2203	4300	6503	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60908513C>T	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.3046G>A	20.37:g.60908513C>T	ENSP00000252999:p.Ala1016Thr						p.A1016T	NM_005560	NP_005551	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		25	3113	-	Breast(26;1.57e-08)		1016			Domain IV 1 (domain IV B).		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.3046G>A	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	c	0.112	-1.136895	0.01742	.	.	ENSG00000130702	ENST00000252999	T	0.19938	2.11	4.74	1.67	0.24075	.	0.168829	0.51477	N	0.000094	T	0.14356	0.0347	L	0.51422	1.61	0.20489	N	0.999894	B	0.16802	0.019	B	0.14578	0.011	T	0.35351	-0.9792	10	0.11485	T	0.65	.	5.4015	0.16299	0.339:0.4932:0.0:0.1678	.	1016	O15230	LAMA5_HUMAN	T	1016	ENSP00000252999:A1016T	ENSP00000252999:A1016T	A	-	1	0	LAMA5	60341908	0.090000	0.21635	0.011000	0.14972	0.361000	0.29550	1.169000	0.31871	0.070000	0.16634	-0.275000	0.10095	GCA		0.682	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2		NM_005560		5	29	0	0	0	0.014758	0	5	29		
TIAM1	7074	broad.mit.edu	37	21	32559388	32559388	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr21:32559388G>A	ENST00000286827.3	-	15	3062	c.2591C>T	c.(2590-2592)tCt>tTt	p.S864F	TIAM1_ENST00000541036.1_Missense_Mutation_p.S804F	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	864	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TTCTTCCACAGAAGAAAGTGA	0.458																																						uc002yow.1		NaN																	0				lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						c.(2590-2592)TCT>TTT		T-cell lymphoma invasion and metastasis 1							140.0	144.0	142.0					21																	32559388		2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32559388G>A		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.2591C>T	21.37:g.32559388G>A	ENSP00000286827:p.Ser864Phe					TIAM1_uc011adk.1_Missense_Mutation_p.S864F|TIAM1_uc011adl.1_Missense_Mutation_p.S804F	p.S864F	NM_003253	NP_003244	Q13009	TIAM1_HUMAN			15	3063	-			864			PDZ.		B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.2591C>T	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585955	0.86748	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.30448	1.53;1.53	6.03	6.03	0.97812	PDZ/DHR/GLGF (4);	0.133576	0.52532	D	0.000073	T	0.47507	0.1449	L	0.51422	1.61	0.53688	D	0.999974	D;D;D	0.60575	0.985;0.988;0.988	P;P;P	0.58331	0.749;0.837;0.837	T	0.35549	-0.9784	10	0.87932	D	0	.	17.4834	0.87680	0.0:0.0:1.0:0.0	.	804;804;864	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	F	864;705;804	ENSP00000286827:S864F;ENSP00000441570:S804F	ENSP00000286827:S864F	S	-	2	0	TIAM1	31481259	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.521000	0.67086	2.854000	0.98071	0.655000	0.94253	TCT		0.458	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1		NM_003253		44	334	0	0	0	0.01441	0	44	334		
HUNK	30811	broad.mit.edu	37	21	33296930	33296930	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr21:33296930C>T	ENST00000270112.2	+	2	772	c.412C>T	c.(412-414)Ctg>Ttg	p.L138L		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	138	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						CAGCTACTACCTGGTCATGGA	0.532																																						uc002yph.2		NaN																	0				stomach(1)|skin(1)	2						c.(412-414)CTG>TTG		hormonally upregulated Neu-associated kinase							73.0	72.0	72.0					21																	33296930		2203	4300	6503	SO:0001819	synonymous_variant	30811				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity	g.chr21:33296930C>T	AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149			13326	protein-coding gene	gene with protein product		606532	"""hormonally upregulated Neu-associated kinase"""			10662544, 10830953	Standard	NM_014586		Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.412C>T	21.37:g.33296930C>T							p.L138L	NM_014586	NP_055401	P57058	HUNK_HUMAN			2	772	+			138			Protein kinase.			Silent	SNP	ENST00000270112.2	37	c.412C>T	CCDS13610.1																																																																																				0.532	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192782.1		NM_014586		42	150	0	0	0	0.011902	0	42	150		
MORC3	23515	broad.mit.edu	37	21	37741729	37741729	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr21:37741729C>T	ENST00000400485.1	+	15	2139	c.2063C>T	c.(2062-2064)tCt>tTt	p.S688F	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	688					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						ACCGATAAATCTGCAGATGAT	0.413																																						uc002yvi.2		NaN																	0				ovary(2)	2						c.(2062-2064)TCT>TTT		MORC family CW-type zinc finger 3							77.0	70.0	72.0					21																	37741729		1913	4139	6052	SO:0001583	missense	23515				cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding	g.chr21:37741729C>T	AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"""zinc finger, CW-type with coiled-coil domain 3"", ""zinc finger, CW type with coiled-coil domain 3"""	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.2063C>T	21.37:g.37741729C>T	ENSP00000383333:p.Ser688Phe						p.S688F	NM_015358	NP_056173	Q14149	MORC3_HUMAN			15	2139	+			688			Potential.		A8KA92|Q9UEZ2	Missense_Mutation	SNP	ENST00000400485.1	37	c.2063C>T	CCDS42924.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.671106	0.29693	.	.	ENSG00000159256	ENST00000400485	T	0.16743	2.32	5.8	1.68	0.24146	.	1.037650	0.07513	N	0.909153	T	0.15522	0.0374	L	0.54323	1.7	0.09310	N	1	P	0.36577	0.558	B	0.37422	0.249	T	0.30475	-0.9977	10	0.26408	T	0.33	-0.7607	2.7185	0.05194	0.1305:0.537:0.1268:0.2058	.	688	Q14149	MORC3_HUMAN	F	688	ENSP00000383333:S688F	ENSP00000383333:S688F	S	+	2	0	MORC3	36663599	0.001000	0.12720	0.002000	0.10522	0.753000	0.42808	0.298000	0.19120	0.796000	0.33947	0.655000	0.94253	TCT		0.413	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000194640.1		NM_015358		48	37	0	0	0	0.01441	0	48	37		
TTC3	7267	broad.mit.edu	37	21	38461129	38461129	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr21:38461129G>T	ENST00000399017.2	+	5	3116	c.369G>T	c.(367-369)aaG>aaT	p.K123N	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.K123N|TTC3_ENST00000399010.1_Missense_Mutation_p.K123N|TTC3_ENST00000540756.1_Intron|TTC3_ENST00000354749.2_Missense_Mutation_p.K123N	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	123					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TAAATTTGAAGAAACTACAAC	0.323																																					Ovarian(38;194 1649 35661)	uc002yvz.2		NaN																	0				skin(3)|ovary(2)|lung(2)|breast(2)	9						c.(367-369)AAG>AAT		tetratricopeptide repeat domain 3							71.0	70.0	70.0					21																	38461129		2203	4300	6503	SO:0001583	missense	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38461129G>T	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.369G>T	21.37:g.38461129G>T	ENSP00000381981:p.Lys123Asn					TTC3_uc011aee.1_Intron|TTC3_uc002ywa.2_Missense_Mutation_p.K123N|TTC3_uc002ywb.2_Missense_Mutation_p.K123N|TTC3_uc010gnf.2_5'UTR|TTC3_uc011aed.1_Intron|TTC3_uc010gne.1_Missense_Mutation_p.K123N	p.K123N	NM_001001894	NP_001001894	P53804	TTC3_HUMAN			5	474	+		Myeloproliferative disorder(46;0.0412)	123					A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	c.369G>T	CCDS13651.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.359939	0.61403	.	.	ENSG00000182670	ENST00000418766;ENST00000450533;ENST00000438055;ENST00000355666;ENST00000399010;ENST00000399017;ENST00000354749	T;T;T;T;T;T	0.54866	2.37;0.55;2.32;2.67;2.67;2.67	4.85	4.85	0.62838	.	0.209144	0.32836	N	0.005598	T	0.55878	0.1948	M	0.61703	1.905	0.80722	D	1	P	0.48764	0.915	P	0.45343	0.477	T	0.63821	-0.6550	10	0.87932	D	0	-1.9079	14.8873	0.70579	0.0:0.0:1.0:0.0	.	123	P53804	TTC3_HUMAN	N	123	ENSP00000403943:K123N;ENSP00000408456:K123N;ENSP00000391891:K123N;ENSP00000347889:K123N;ENSP00000381981:K123N;ENSP00000346791:K123N	ENSP00000346791:K123N	K	+	3	2	TTC3	37382999	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.575000	0.36493	2.245000	0.73994	0.555000	0.69702	AAG		0.323	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1				15	62	1	0	3.45872e-05	0.004007	3.53215e-05	15	62		
RIPK4	54101	broad.mit.edu	37	21	43161677	43161677	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr21:43161677C>T	ENST00000352483.2	-	9	1884	c.1820G>A	c.(1819-1821)cGa>cAa	p.R607Q	RIPK4_ENST00000542057.1_Missense_Mutation_p.R496Q|RIPK4_ENST00000544709.1_Missense_Mutation_p.R496Q|RIPK4_ENST00000332512.3_Missense_Mutation_p.R559Q|AP001615.9_ENST00000423276.1_RNA			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	607					morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GTCCACGCCTCGGCGCAGCAG	0.662																																						uc002yzn.1		NaN																	0				ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(1675-1677)CGA>CAA		ankyrin repeat domain 3							42.0	39.0	40.0					21																	43161677		2203	4299	6502	SO:0001583	missense	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43161677C>T	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.1820G>A	21.37:g.43161677C>T	ENSP00000330161:p.Arg607Gln						p.R559Q	NM_020639	NP_065690	P57078	RIPK4_HUMAN			8	1724	-			559					Q96KH0	Missense_Mutation	SNP	ENST00000352483.2	37	c.1676G>A		.	.	.	.	.	.	.	.	.	.	C	17.61	3.431720	0.62844	.	.	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057;ENST00000330470	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	4.99	2.12	0.27331	.	0.088033	0.44688	D	0.000429	T	0.59280	0.2182	N	0.24115	0.695	0.30349	N	0.785006	D	0.76494	0.999	D	0.77557	0.99	T	0.55891	-0.8069	10	0.16420	T	0.52	-13.5631	7.5123	0.27581	0.0:0.7101:0.1366:0.1534	.	559	P57078-2	.	Q	559;607;496;496;298	ENSP00000332454:R559Q;ENSP00000330161:R607Q;ENSP00000441754:R496Q;ENSP00000442901:R496Q	ENSP00000330975:R298Q	R	-	2	0	RIPK4	42034746	0.998000	0.40836	0.050000	0.19076	0.875000	0.50365	3.910000	0.56371	0.132000	0.18615	0.655000	0.94253	CGA		0.662	RIPK4-201	KNOWN	basic	protein_coding	protein_coding			NM_020639		10	95	0	0	0	0.006214	0	10	95		
TRPM2	7226	broad.mit.edu	37	21	45837924	45837924	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr21:45837924C>T	ENST00000397928.1	+	21	3706	c.3261C>T	c.(3259-3261)ctC>ctT	p.L1087L	AP001065.2_ENST00000456880.1_RNA|TRPM2_ENST00000397932.2_Silent_p.L1087L|TRPM2_ENST00000300481.9_Silent_p.L1067L|AP001065.2_ENST00000423310.1_RNA|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Silent_p.L1087L	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1087					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TCATCCTCCTCAGCCACCTGC	0.627																																						uc002zet.1		NaN																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(3259-3261)CTC>CTT		transient receptor potential cation channel,							54.0	56.0	55.0					21																	45837924		2203	4300	6503	SO:0001819	synonymous_variant	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45837924C>T	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.3261C>T	21.37:g.45837924C>T						TRPM2_uc002zeu.1_Silent_p.L1087L|TRPM2_uc002zew.1_Silent_p.L1087L|TRPM2_uc010gpt.1_Silent_p.L1087L|TRPM2_uc002zex.1_Silent_p.L873L|TRPM2_uc002zey.1_Silent_p.L600L|uc011afe.1_Intron	p.L1087L	NM_003307	NP_003298	O94759	TRPM2_HUMAN			22	3474	+			1087			Cytoplasmic (Potential).		D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Silent	SNP	ENST00000397928.1	37	c.3261C>T	CCDS13710.1																																																																																				0.627	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1		NM_003307		22	234	0	0	0	0.01892	0	22	234		
TRPM2	7226	broad.mit.edu	37	21	45837945	45837945	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr21:45837945C>G	ENST00000397928.1	+	21	3727	c.3282C>G	c.(3280-3282)atC>atG	p.I1094M	AP001065.2_ENST00000456880.1_RNA|TRPM2_ENST00000397932.2_Missense_Mutation_p.I1094M|TRPM2_ENST00000300481.9_Missense_Mutation_p.I1074M|AP001065.2_ENST00000423310.1_RNA|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.I1094M	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1094					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						AGCTCTTCATCAAGAGGGTGG	0.637																																						uc002zet.1		NaN																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(3280-3282)ATC>ATG		transient receptor potential cation channel,							54.0	56.0	55.0					21																	45837945		2203	4300	6503	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45837945C>G	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.3282C>G	21.37:g.45837945C>G	ENSP00000381023:p.Ile1094Met					TRPM2_uc002zeu.1_Missense_Mutation_p.I1094M|TRPM2_uc002zew.1_Missense_Mutation_p.I1094M|TRPM2_uc010gpt.1_Missense_Mutation_p.I1094M|TRPM2_uc002zex.1_Missense_Mutation_p.I880M|TRPM2_uc002zey.1_Missense_Mutation_p.I607M|uc011afe.1_Intron	p.I1094M	NM_003307	NP_003298	O94759	TRPM2_HUMAN			22	3495	+			1094			Cytoplasmic (Potential).		D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.3282C>G	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	C	12.42	1.932631	0.34096	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	4.54	3.64	0.41730	.	0.432046	0.22512	N	0.059093	T	0.38054	0.1026	M	0.78456	2.415	0.27747	N	0.944276	P;P;P	0.49253	0.921;0.921;0.921	P;P;P	0.48524	0.58;0.512;0.456	T	0.34551	-0.9824	10	0.46703	T	0.11	-18.2567	6.0564	0.19815	0.0:0.6488:0.179:0.1722	.	1094;880;1094	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	M	1094;1094;1074;1094	ENSP00000300482:I1094M;ENSP00000381023:I1094M;ENSP00000300481:I1074M;ENSP00000381026:I1094M	ENSP00000300481:I1074M	I	+	3	3	TRPM2	44662373	0.838000	0.29461	0.361000	0.25849	0.565000	0.35776	1.023000	0.30065	2.253000	0.74438	0.455000	0.32223	ATC		0.637	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1		NM_003307		23	226	0	0	0	0.024334	0	23	226		
COL18A1	80781	broad.mit.edu	37	21	46911162	46911162	+	Silent	SNP	C	C	T	rs376084472		TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr21:46911162C>T	ENST00000359759.4	+	21	3357	c.3336C>T	c.(3334-3336)gtC>gtT	p.V1112V	COL18A1_ENST00000400337.2_Silent_p.V697V|COL18A1_ENST00000355480.5_Silent_p.V877V			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1112	Triple-helical region 4 (COL4).			V -> L (in Ref. 5; AAA51864). {ECO:0000305}.	angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		AGGACGGAGTCGGGCAGCCGG	0.682																																						uc011afs.1		NaN																	0				central_nervous_system(1)	1						c.(3334-3336)GTC>GTT		alpha 1 type XVIII collagen isoform 3 precursor		C	,	1,3883		0,1,1941	24.0	32.0	29.0		2631,2091	-1.7	0.5	21		29	0,8214		0,0,4107	no	coding-synonymous,coding-synonymous	COL18A1	NM_030582.3,NM_130445.2	,	0,1,6048	TT,TC,CC		0.0,0.0257,0.0083	,	877/1520,697/1340	46911162	1,12097	1942	4107	6049	SO:0001819	synonymous_variant	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46911162C>T		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.3336C>T	21.37:g.46911162C>T						COL18A1_uc002zhg.2_Silent_p.V697V|COL18A1_uc002zhi.2_Silent_p.V877V	p.V1112V	NM_130444	NP_569711	P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	21	3357	+			1112	V -> L (in Ref. 5; AAA51864).		Triple-helical region 4 (COL4).		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Silent	SNP	ENST00000359759.4	37	c.3336C>T																																																																																					0.682	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1				5	87	0	0	0	0.001984	0	5	87		
CHEK2	11200	broad.mit.edu	37	22	29091828	29091828	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr22:29091828C>T	ENST00000405598.1	-	12	1320	c.1129G>A	c.(1129-1131)Gag>Aag	p.E377K	CHEK2_ENST00000348295.3_Missense_Mutation_p.E348K|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000544772.1_Missense_Mutation_p.E156K|CHEK2_ENST00000382580.2_Missense_Mutation_p.E420K|CHEK2_ENST00000403642.1_Missense_Mutation_p.E286K|CHEK2_ENST00000382578.1_Missense_Mutation_p.E286K|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000404276.1_Missense_Mutation_p.E377K|CHEK2_ENST00000328354.6_Missense_Mutation_p.E377K|CHEK2_ENST00000402731.1_Missense_Mutation_p.E348K			O96017	CHK2_HUMAN	checkpoint kinase 2	377	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						AGAGAGGTCTCTCCCAAAATC	0.423			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														uc003adu.1		NaN	yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast 			0				central_nervous_system(17)|stomach(1)|ovary(1)|lung(1)	20						c.(1129-1131)GAG>AAG	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	protein kinase CHK2 isoform a							48.0	48.0	48.0					22																	29091828		2203	4300	6503	SO:0001583	missense	11200	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer			cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091828C>T	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1129G>A	22.37:g.29091828C>T	ENSP00000386087:p.Glu377Lys					CHEK2_uc003ads.1_Missense_Mutation_p.E156K|CHEK2_uc010gvh.1_Missense_Mutation_p.E286K|CHEK2_uc010gvi.1_Intron|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Missense_Mutation_p.E420K|CHEK2_uc003adv.1_Missense_Mutation_p.E348K|CHEK2_uc003adw.1_Missense_Mutation_p.E377K|CHEK2_uc003adx.1_Missense_Mutation_p.E156K|CHEK2_uc003ady.1_Missense_Mutation_p.E377K|CHEK2_uc003adz.1_Missense_Mutation_p.E181K	p.E377K	NM_007194	NP_009125	O96017	CHK2_HUMAN			11	1201	-			377			Protein kinase.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.1129G>A	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.972270	0.74246	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	5.89	5.89	0.94794	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	0.68403	0.2997	N	0.16567	0.415	0.80722	D	1	D;B;D;D;B;B	0.89917	1.0;0.336;1.0;1.0;0.291;0.127	D;B;D;D;B;B	0.81914	0.985;0.153;0.992;0.995;0.167;0.063	T	0.71735	-0.4503	10	0.59425	D	0.04	-13.9382	19.2242	0.93812	0.0:1.0:0.0:0.0	.	286;156;377;348;377;420	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	K	348;286;156;377;377;377;420;286;348	ENSP00000329012:E348K;ENSP00000372021:E286K;ENSP00000442458:E156K;ENSP00000329178:E377K;ENSP00000385747:E377K;ENSP00000386087:E377K;ENSP00000372023:E420K;ENSP00000384919:E286K;ENSP00000384835:E348K	ENSP00000329178:E377K	E	-	1	0	CHEK2	27421828	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.916000	0.75776	2.787000	0.95880	0.650000	0.86243	GAG		0.423	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1		NM_001005735		22	74	0	0	0	0.016522	0	22	74		
CHEK2	11200	broad.mit.edu	37	22	29092917	29092917	+	Nonsense_Mutation	SNP	G	G	T	rs121908703		TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr22:29092917G>T	ENST00000405598.1	-	11	1258	c.1067C>A	c.(1066-1068)tCa>tAa	p.S356*	CHEK2_ENST00000348295.3_Intron|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000544772.1_Nonsense_Mutation_p.S135*|CHEK2_ENST00000382580.2_Nonsense_Mutation_p.S399*|CHEK2_ENST00000403642.1_Nonsense_Mutation_p.S265*|CHEK2_ENST00000382578.1_Nonsense_Mutation_p.S265*|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000464581.1_5'UTR|CHEK2_ENST00000404276.1_Nonsense_Mutation_p.S356*|CHEK2_ENST00000328354.6_Nonsense_Mutation_p.S356*|CHEK2_ENST00000402731.1_Intron			O96017	CHK2_HUMAN	checkpoint kinase 2	356	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						TTCTTGAGATGACAGTAAAAC	0.378			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														uc003adu.1		NaN	yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast 			0				central_nervous_system(17)|stomach(1)|ovary(1)|lung(1)	20						c.(1066-1068)TCA>TAA	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	protein kinase CHK2 isoform a							139.0	118.0	125.0					22																	29092917		2203	4300	6503	SO:0001587	stop_gained	11200	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer			cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29092917G>T	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1067C>A	22.37:g.29092917G>T	ENSP00000386087:p.Ser356*					CHEK2_uc003ads.1_Nonsense_Mutation_p.S135*|CHEK2_uc010gvh.1_Nonsense_Mutation_p.S265*|CHEK2_uc010gvi.1_Intron|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Nonsense_Mutation_p.S399*|CHEK2_uc003adv.1_Intron|CHEK2_uc003adw.1_Nonsense_Mutation_p.S356*|CHEK2_uc003adx.1_Nonsense_Mutation_p.S135*|CHEK2_uc003ady.1_Nonsense_Mutation_p.S356*|CHEK2_uc003adz.1_Nonsense_Mutation_p.S160*	p.S356*	NM_007194	NP_009125	O96017	CHK2_HUMAN			10	1139	-			356			Protein kinase.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Nonsense_Mutation	SNP	ENST00000405598.1	37	c.1067C>A	CCDS13843.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	46|46	12.569118|12.569118	0.99679|0.99679	.|.	.|.	ENSG00000183765|ENSG00000183765	ENST00000434810|ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000447421	.|.	.|.	.|.	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	.|0.062767	.|0.64402	.|D	.|0.000003	T|.	0.47097|.	0.1427|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.36480|.	-0.9746|.	4|.	.|0.02654	.|T	.|1	-9.0348|-9.0348	18.7264|18.7264	0.91716|0.91716	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	N|X	100|265;135;356;356;356;399;265;289	.|.	.|ENSP00000329178:S356X	H|S	-|-	1|2	0|0	CHEK2|CHEK2	27422917|27422917	1.000000|1.000000	0.71417|0.71417	0.894000|0.894000	0.35097|0.35097	0.374000|0.374000	0.29953|0.29953	7.726000|7.726000	0.84824|0.84824	2.653000|2.653000	0.90120|0.90120	0.650000|0.650000	0.86243|0.86243	CAT|TCA		0.378	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1		NM_001005735		14	38	1	0	1.36491e-13	0.016723	1.46545e-13	14	38		
CHEK2	11200	broad.mit.edu	37	22	29092969	29092969	+	Missense_Mutation	SNP	G	G	A	rs371207635		TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr22:29092969G>A	ENST00000405598.1	-	11	1206	c.1015C>T	c.(1015-1017)Cat>Tat	p.H339Y	CHEK2_ENST00000348295.3_Intron|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000544772.1_Missense_Mutation_p.H118Y|CHEK2_ENST00000382580.2_Missense_Mutation_p.H382Y|CHEK2_ENST00000403642.1_Missense_Mutation_p.H248Y|CHEK2_ENST00000382578.1_Missense_Mutation_p.H248Y|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000464581.1_5'UTR|CHEK2_ENST00000404276.1_Missense_Mutation_p.H339Y|CHEK2_ENST00000328354.6_Missense_Mutation_p.H339Y|CHEK2_ENST00000402731.1_Intron			O96017	CHK2_HUMAN	checkpoint kinase 2	339	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCGTTTTCATGAAGGTACTAC	0.398			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														uc003adu.1		NaN	yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast 			0				central_nervous_system(17)|stomach(1)|ovary(1)|lung(1)	20						c.(1015-1017)CAT>TAT	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	protein kinase CHK2 isoform a		G	TYR/HIS,TYR/HIS,	0,4406		0,0,2203	113.0	96.0	102.0		1144,1015,	5.5	1.0	22		102	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,intron	CHEK2	NM_001005735.1,NM_007194.3,NM_145862.2	83,83,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,	382/587,339/544,	29092969	1,13005	2203	4300	6503	SO:0001583	missense	11200	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer			cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29092969G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1015C>T	22.37:g.29092969G>A	ENSP00000386087:p.His339Tyr					CHEK2_uc003ads.1_Missense_Mutation_p.H118Y|CHEK2_uc010gvh.1_Missense_Mutation_p.H248Y|CHEK2_uc010gvi.1_Intron|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Missense_Mutation_p.H382Y|CHEK2_uc003adv.1_Intron|CHEK2_uc003adw.1_Missense_Mutation_p.H339Y|CHEK2_uc003adx.1_Missense_Mutation_p.H118Y|CHEK2_uc003ady.1_Missense_Mutation_p.H339Y|CHEK2_uc003adz.1_Missense_Mutation_p.H143Y	p.H339Y	NM_007194	NP_009125	O96017	CHK2_HUMAN			10	1087	-			339			Protein kinase.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.1015C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.894538	0.91962	0.0	1.16E-4	ENSG00000183765	ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000447421;ENST00000425190	D;D;D;D;D;D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76	5.53	5.53	0.82687	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94308	0.8171	H	0.96489	3.83	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.95798	0.8830	10	0.87932	D	0	-28.5308	18.4418	0.90669	0.0:0.0:1.0:0.0	.	248;118;339;339;382	O96017-4;Q9HBS5;A8JZZ5;O96017;O96017-9	.;.;.;CHK2_HUMAN;.	Y	248;118;339;339;339;382;248;272;118	ENSP00000372021:H248Y;ENSP00000442458:H118Y;ENSP00000329178:H339Y;ENSP00000385747:H339Y;ENSP00000386087:H339Y;ENSP00000372023:H382Y;ENSP00000384919:H248Y;ENSP00000397478:H272Y;ENSP00000390244:H118Y	ENSP00000329178:H339Y	H	-	1	0	CHEK2	27422969	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	7.726000	0.84824	2.584000	0.87258	0.557000	0.71058	CAT		0.398	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1		NM_001005735		12	33	0	0	0	0.024245	0	12	33		
THOC5	8563	broad.mit.edu	37	22	29940524	29940524	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr22:29940524G>C	ENST00000490103.1	-	3	287	c.165C>G	c.(163-165)taC>taG	p.Y55*	THOC5_ENST00000397871.1_Nonsense_Mutation_p.Y55*|THOC5_ENST00000397873.2_Nonsense_Mutation_p.Y55*|THOC5_ENST00000397872.1_Nonsense_Mutation_p.Y55*	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	55	Interaction with CSF1R. {ECO:0000250}.|Interaction with THOC7.				blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGGTGTACTTGTATAACTCAT	0.542																																						uc003afr.2		NaN																	0				breast(3)	3						c.(163-165)TAC>TAG		THO complex 5							148.0	124.0	132.0					22																	29940524		2203	4300	6503	SO:0001587	stop_gained	8563				intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding	g.chr22:29940524G>C	AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"""THO complex subunits"""	19074	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 79"""	612733	"""chromosome 22 open reading frame 19"""	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.165C>G	22.37:g.29940524G>C	ENSP00000420306:p.Tyr55*					THOC5_uc003afs.2_Nonsense_Mutation_p.Y55*|THOC5_uc003aft.2_Nonsense_Mutation_p.Y55*|THOC5_uc003afu.2_Nonsense_Mutation_p.Y55*|THOC5_uc010gvo.2_5'UTR|THOC5_uc003afv.1_Nonsense_Mutation_p.Y55*|THOC5_uc003afw.1_5'Flank	p.Y55*	NM_001002878	NP_001002878	Q13769	THOC5_HUMAN			4	500	-			55			Interaction with THOC7.|Interaction with CSF1R (By similarity).		O60839|Q9UPZ5	Nonsense_Mutation	SNP	ENST00000490103.1	37	c.165C>G	CCDS13859.1	.	.	.	.	.	.	.	.	.	.	G	35	5.444346	0.96187	.	.	ENSG00000100296	ENST00000490103;ENST00000397872;ENST00000397871;ENST00000397873;ENST00000440771;ENST00000455450;ENST00000428374;ENST00000418021	.	.	.	5.78	3.68	0.42216	.	0.123999	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.0762	10.8886	0.46981	0.0673:0.0:0.8019:0.1308	.	.	.	.	X	55;55;55;55;55;51;55;55	.	ENSP00000444493:Y55X	Y	-	3	2	THOC5	28270524	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.344000	0.52174	0.779000	0.33543	0.655000	0.94253	TAC		0.542	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322097.1		NM_003678		29	113	0	0	0	0.027356	0	29	113		
GAL3ST1	9514	broad.mit.edu	37	22	30951254	30951254	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr22:30951254C>G	ENST00000402321.1	-	3	1275	c.958G>C	c.(958-960)Gag>Cag	p.E320Q	GAL3ST1_ENST00000338911.5_Missense_Mutation_p.E320Q|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.E320Q|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.E320Q|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.E320Q|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.E320Q|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.E320Q			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	320					galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						CCGAAGGCCTCCACCTTGCGC	0.711																																						uc003aig.1		NaN																	0					0						c.(958-960)GAG>CAG		galactose-3-O-sulfotransferase 1							15.0	18.0	17.0					22																	30951254		2194	4288	6482	SO:0001583	missense	9514				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity	g.chr22:30951254C>G	D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"""Sulfotransferases, membrane-bound"""	24240	protein-coding gene	gene with protein product	"""cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"""	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.958G>C	22.37:g.30951254C>G	ENSP00000385735:p.Glu320Gln					GAL3ST1_uc003aih.1_Missense_Mutation_p.E320Q|GAL3ST1_uc003aii.1_Missense_Mutation_p.E320Q|GAL3ST1_uc010gvz.1_Missense_Mutation_p.E320Q	p.E320Q	NM_004861	NP_004852	Q99999	G3ST1_HUMAN			4	1098	-			320			Lumenal (Potential).		Q96C63	Missense_Mutation	SNP	ENST00000402321.1	37	c.958G>C	CCDS13879.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.687823	0.88639	.	.	ENSG00000128242	ENST00000406955;ENST00000402321;ENST00000402369;ENST00000401975;ENST00000338911;ENST00000406361;ENST00000443111	T;T;T;T;T;T;T	0.15487	2.42;2.42;2.42;2.42;2.42;2.42;2.42	5.55	5.55	0.83447	.	0.091639	0.85682	D	0.000000	T	0.41351	0.1155	M	0.65975	2.015	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	T	0.03608	-1.1020	10	0.30854	T	0.27	-19.2306	19.0729	0.93147	0.0:1.0:0.0:0.0	.	320	Q99999	G3ST1_HUMAN	Q	320	ENSP00000385825:E320Q;ENSP00000385735:E320Q;ENSP00000384122:E320Q;ENSP00000384388:E320Q;ENSP00000343234:E320Q;ENSP00000385207:E320Q;ENSP00000402587:E320Q	ENSP00000343234:E320Q	E	-	1	0	GAL3ST1	29281254	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.615000	0.88500	0.561000	0.74099	GAG		0.711	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321745.1		NM_004861		8	13	0	0	0	0.00308	0	8	13		
MYH9	4627	broad.mit.edu	37	22	36695011	36695011	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr22:36695011G>A	ENST00000216181.5	-	24	3284	c.3054C>T	c.(3052-3054)ctC>ctT	p.L1018L		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1018					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TGAGCTTGGCGAGGCTCTTAG	0.562			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													uc003apg.2		NaN		Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome	L	ALK		ALCL		0				breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						c.(3052-3054)CTC>CTT		myosin, heavy polypeptide 9, non-muscle							237.0	192.0	207.0					22																	36695011		2203	4300	6503	SO:0001819	synonymous_variant	4627	Hereditary_Macrothrombocytopenia_MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36695011G>A		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.3054C>T	22.37:g.36695011G>A							p.L1018L	NM_002473	NP_002464	P35579	MYH9_HUMAN			24	3285	-			1018			Potential.		A8K6E4|O60805|Q60FE2|Q86T83	Silent	SNP	ENST00000216181.5	37	c.3054C>T	CCDS13927.1																																																																																				0.562	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3		NM_002473		22	57	0	0	0	0.012319	0	22	57		
MFNG	4242	broad.mit.edu	37	22	37868558	37868558	+	Silent	SNP	G	G	A	rs11548403		TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr22:37868558G>A	ENST00000356998.3	-	7	1045	c.822C>T	c.(820-822)ctC>ctT	p.L274L	MFNG_ENST00000416983.3_Silent_p.L260L	NM_002405.3	NP_002396.2	O00587	MFNG_HUMAN	MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	274					pattern specification process (GO:0007389)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)	extracellular space (GO:0005615)|integral component of Golgi membrane (GO:0030173)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)			large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					CACCGTAGCTGAGGGTGACCT	0.602											OREG0026538	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ass.1		NaN																	0				lung(1)	1						c.(820-822)CTC>CTT		O-fucosylpeptide							93.0	100.0	97.0					22																	37868558		2203	4300	6503	SO:0001819	synonymous_variant	4242				pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	g.chr22:37868558G>A	BC094814	CCDS13947.1, CCDS54525.1	22q13.1	2013-02-19	2006-11-13		ENSG00000100060	ENSG00000100060	2.4.1.222	"""Beta 3-glycosyltransferases"""	7038	protein-coding gene	gene with protein product		602577	"""manic fringe (Drosophila) homolog"", ""manic fringe homolog (Drosophila)"""			9878264, 9187150	Standard	NM_002405		Approved		uc003ass.2	O00587	OTTHUMG00000150560	ENST00000356998.3:c.822C>T	22.37:g.37868558G>A			OREG0026538	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	873	MFNG_uc011ani.1_Silent_p.L152L|MFNG_uc011anj.1_Silent_p.L260L|MFNG_uc003asr.1_RNA	p.L274L	NM_002405	NP_002396	O00587	MFNG_HUMAN			7	992	-	Melanoma(58;0.0574)		274			Lumenal (Potential).		B4DLT6|O43730|Q504S9	Silent	SNP	ENST00000356998.3	37	c.822C>T	CCDS13947.1																																																																																				0.602	MFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318902.1		NM_002405		29	119	0	0	0	0.007291	0	29	119		
KCNH8	131096	broad.mit.edu	37	3	19479720	19479720	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr3:19479720C>T	ENST00000328405.2	+	8	1508	c.1242C>T	c.(1240-1242)ggC>ggT	p.G414G	KCNH8_ENST00000537696.1_Silent_p.G55G	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	414					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						CCTTGGGGGGCCCGTCGATCC	0.488																																					NSCLC(124;1625 1765 8018 24930 42026)	uc003cbk.1		NaN																	0				lung(4)|ovary(1)	5						c.(1240-1242)GGC>GGT		potassium voltage-gated channel, subfamily H,							156.0	159.0	158.0					3																	19479720		2203	4300	6503	SO:0001819	synonymous_variant	131096					integral to membrane	two-component sensor activity	g.chr3:19479720C>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.1242C>T	3.37:g.19479720C>T						KCNH8_uc011awe.1_Silent_p.G414G|KCNH8_uc010hex.1_5'UTR|KCNH8_uc011awf.1_Silent_p.G45G	p.G414G	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN			8	1437	+			414			Extracellular (Potential).		B7Z2I7|Q59GQ6	Silent	SNP	ENST00000328405.2	37	c.1242C>T	CCDS2632.1																																																																																				0.488	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2		NM_144633		55	486	0	0	0	0.01441	0	55	486		
GPD1L	23171	broad.mit.edu	37	3	32188164	32188164	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr3:32188164C>G	ENST00000282541.5	+	5	757	c.556C>G	c.(556-558)Cca>Gca	p.P186A		NM_015141.3	NP_055956.1	Q8N335	GPD1L_HUMAN	glycerol-3-phosphate dehydrogenase 1-like	186					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|glycerol-3-phosphate catabolic process (GO:0046168)|glycerophospholipid biosynthetic process (GO:0046474)|NAD metabolic process (GO:0019674)|NADH metabolic process (GO:0006734)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase C signaling (GO:0090038)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of protein localization to cell surface (GO:2000010)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate (GO:0002027)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|ventricular cardiac muscle cell action potential (GO:0086005)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycerol-3-phosphate dehydrogenase complex (GO:0009331)|plasma membrane (GO:0005886)	glycerol-3-phosphate dehydrogenase [NAD+] activity (GO:0004367)|ion channel binding (GO:0044325)|NAD binding (GO:0051287)|sodium channel regulator activity (GO:0017080)			large_intestine(4)|lung(7)|ovary(1)	12						TCTGCAGACTCCAAATTTTCG	0.433																																						uc003cew.2		NaN																	0					0						c.(556-558)CCA>GCA		glycerol-3-phosphate dehydrogenase 1-like							144.0	139.0	141.0					3																	32188164		2203	4300	6503	SO:0001583	missense	23171				glycerol-3-phosphate catabolic process	glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|NAD binding|protein homodimerization activity	g.chr3:32188164C>G	D42047	CCDS33729.1	3p22.3	2014-09-17			ENSG00000152642	ENSG00000152642			28956	protein-coding gene	gene with protein product		611778				7788527	Standard	NM_015141		Approved	KIAA0089	uc003cew.3	Q8N335	OTTHUMG00000155846	ENST00000282541.5:c.556C>G	3.37:g.32188164C>G	ENSP00000282541:p.Pro186Ala						p.P186A	NM_015141	NP_055956	Q8N335	GPD1L_HUMAN			5	616	+			186					A8K9U3|Q14702|Q9BRM5	Missense_Mutation	SNP	ENST00000282541.5	37	c.556C>G	CCDS33729.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.388398	0.61956	.	.	ENSG00000152642	ENST00000282541;ENST00000425459	T;T	0.51817	0.69;0.69	5.58	5.58	0.84498	NAD(P)-binding domain (1);	0.146928	0.64402	D	0.000006	T	0.53834	0.1821	M	0.76170	2.325	0.58432	D	0.999995	B	0.10296	0.003	B	0.09377	0.004	T	0.53450	-0.8437	10	0.72032	D	0.01	-16.857	19.9551	0.97216	0.0:1.0:0.0:0.0	.	186	Q8N335	GPD1L_HUMAN	A	186;139	ENSP00000282541:P186A;ENSP00000408770:P139A	ENSP00000282541:P186A	P	+	1	0	GPD1L	32163168	0.006000	0.16342	0.983000	0.44433	0.987000	0.75469	1.122000	0.31295	2.793000	0.96121	0.549000	0.68633	CCA		0.433	GPD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341975.2		NM_015141		99	306	0	0	0	0.01441	0	99	306		
SCN5A	6331	broad.mit.edu	37	3	38601887	38601887	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr3:38601887C>T	ENST00000333535.4	-	23	4145	c.3996G>A	c.(3994-3996)ccG>ccA	p.P1332P	SCN5A_ENST00000423572.2_Silent_p.P1331P|SCN5A_ENST00000413689.1_Silent_p.P1332P|SCN5A_ENST00000425664.1_Silent_p.P1332P|SCN5A_ENST00000450102.2_Silent_p.P1278P|SCN5A_ENST00000451551.2_Silent_p.P1278P|SCN5A_ENST00000449557.2_Silent_p.P1278P|SCN5A_ENST00000414099.2_Silent_p.P1332P|SCN5A_ENST00000443581.1_Silent_p.P1331P|SCN5A_ENST00000455624.2_Silent_p.P1331P			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1332			P -> L (in LQT3).		AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TCATGATGGACGGGATGGCGC	0.582																																						uc003cio.2		NaN																	0				ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9						c.(3994-3996)CCG>CCA		voltage-gated sodium channel type V alpha	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						91.0	87.0	89.0					3																	38601887		2203	4300	6503	SO:0001819	synonymous_variant	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38601887C>T	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.3996G>A	3.37:g.38601887C>T						SCN5A_uc003cin.2_Silent_p.P1331P|SCN5A_uc003cil.3_Silent_p.P1332P|SCN5A_uc010hhi.2_Silent_p.P1332P|SCN5A_uc010hhk.2_Silent_p.P1331P|SCN5A_uc011ayr.1_Silent_p.P1278P|SCN5A_uc010hhj.1_Silent_p.P942P	p.P1332P	NM_198056	NP_932173	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	23	4190	-	Medulloblastoma(35;0.163)		1332		P -> L (in LQT3).			A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	ENST00000333535.4	37	c.3996G>A	CCDS46796.1																																																																																				0.582	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1		NM_198056		17	44	0	0	0	0.012319	0	17	44		
SCN5A	6331	broad.mit.edu	37	3	38616877	38616877	+	Missense_Mutation	SNP	G	G	A	rs192379242	byFrequency	TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr3:38616877G>A	ENST00000333535.4	-	20	3726	c.3577C>T	c.(3577-3579)Cgg>Tgg	p.R1193W	SCN5A_ENST00000423572.2_Missense_Mutation_p.R1192W|SCN5A_ENST00000413689.1_Missense_Mutation_p.R1193W|SCN5A_ENST00000425664.1_Missense_Mutation_p.R1193W|SCN5A_ENST00000450102.2_Missense_Mutation_p.R1139W|SCN5A_ENST00000451551.2_Missense_Mutation_p.R1139W|SCN5A_ENST00000449557.2_Missense_Mutation_p.R1139W|SCN5A_ENST00000414099.2_Missense_Mutation_p.R1193W|SCN5A_ENST00000443581.1_Missense_Mutation_p.R1192W|SCN5A_ENST00000455624.2_Missense_Mutation_p.R1192W			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1193			R -> Q (in BRGDA1 and LQT3; also found in patients with atrial fibrillation; accelerates the inactivation of the sodium channel current and exhibit reduced sodium channel current at the end of phase I of the action potential; dbSNP:rs41261344). {ECO:0000269|PubMed:18378609}.		AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.R1193W(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TTGCGCAACCGCCACCAGACC	0.612													G|||	2	0.000399361	0.0	0.0	5008	,	,		19394	0.001		0.0	False		,,,				2504	0.001					uc003cio.2		NaN																	1	Substitution - Missense(1)	p.R1193W(1)	pancreas(1)	ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9						c.(3577-3579)CGG>TGG		voltage-gated sodium channel type V alpha	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	31.0	35.0	34.0		3574,3577,3577,3574,3415,3577	-0.1	1.0	3		34	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense,missense,missense	SCN5A	NM_000335.4,NM_001099404.1,NM_001099405.1,NM_001160160.1,NM_001160161.1,NM_198056.2	101,101,101,101,101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	1192/2016,1193/2017,1193/1999,1192/1984,1139/1963,1193/2017	38616877	1,13005	2203	4300	6503	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38616877G>A	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.3577C>T	3.37:g.38616877G>A	ENSP00000328968:p.Arg1193Trp					SCN5A_uc003cin.2_Missense_Mutation_p.R1192W|SCN5A_uc003cil.3_Missense_Mutation_p.R1193W|SCN5A_uc010hhi.2_Missense_Mutation_p.R1193W|SCN5A_uc010hhk.2_Missense_Mutation_p.R1192W|SCN5A_uc011ayr.1_Missense_Mutation_p.R1139W|SCN5A_uc010hhj.1_Missense_Mutation_p.R803W	p.R1193W	NM_198056	NP_932173	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	20	3771	-	Medulloblastoma(35;0.163)		1193					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.3577C>T	CCDS46796.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	19.11	3.764034	0.69878	0.0	1.16E-4	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84;-1.84;-1.84;-1.84;-1.84;-1.84;-1.84	4.31	-0.113	0.13568	Sodium ion transport-associated (1);	0.054132	0.64402	D	0.000001	D	0.89315	0.6680	M	0.62266	1.93	0.44562	D	0.997525	D;D;D;D;P;P;P	0.89917	1.0;0.99;0.992;0.994;0.944;0.949;0.682	D;P;P;P;P;P;B	0.69479	0.964;0.636;0.655;0.67;0.802;0.655;0.161	D	0.89078	0.3474	10	0.87932	D	0	.	14.0212	0.64555	0.0:0.0:0.234:0.766	.	1139;1192;1193;1193;1193;1192;1193	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	W	1193;1192;1193;1139;1192;1193;1193;1192;1139;1139	ENSP00000398962:R1193W;ENSP00000398266:R1192W;ENSP00000410257:R1193W;ENSP00000388797:R1139W;ENSP00000397915:R1192W;ENSP00000416634:R1193W;ENSP00000328968:R1193W;ENSP00000399524:R1192W;ENSP00000403355:R1139W;ENSP00000413996:R1139W	ENSP00000328968:R1193W	R	-	1	2	SCN5A	38591881	0.835000	0.29415	0.991000	0.47740	0.987000	0.75469	1.177000	0.31969	0.153000	0.19213	0.655000	0.94253	CGG		0.612	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1		NM_198056		7	7	0	0	0	0.001984	0	7	7		
ZBTB47	92999	broad.mit.edu	37	3	42702987	42702987	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr3:42702987G>A	ENST00000232974.6	+	3	1765	c.1484G>A	c.(1483-1485)tGt>tAt	p.C495Y	ZBTB47_ENST00000505904.1_Missense_Mutation_p.C41Y|ZBTB47_ENST00000457842.3_Missense_Mutation_p.C119Y			Q9UFB7	ZBT47_HUMAN	zinc finger and BTB domain containing 47	495					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.216)		TGTGTGACATGTGGCAAAGCT	0.522																																						uc003clu.1		NaN																	0					0						c.(355-357)TGT>TAT		zinc finger protein 651							83.0	80.0	81.0					3																	42702987		1934	4139	6073	SO:0001583	missense	92999				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:42702987G>A	AB033016	CCDS46805.1, CCDS46805.2	3p22.1	2013-01-08	2006-09-19	2006-09-19	ENSG00000114853	ENSG00000114853		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26955	protein-coding gene	gene with protein product			"""zinc finger protein 651"""	ZNF651		10574461	Standard	NM_145166		Approved	KIAA1190, DKFZp434N0615	uc003clu.2	Q9UFB7	OTTHUMG00000156207	ENST00000232974.6:c.1484G>A	3.37:g.42702987G>A	ENSP00000232974:p.Cys495Tyr						p.C119Y	NM_145166	NP_660149	Q9UFB7	ZBT47_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.216)	2	458	+			119			C2H2-type 3.		H7BXD3|Q6ZSY6|Q8WTY8|Q9ULN0	Missense_Mutation	SNP	ENST00000232974.6	37	c.356G>A	CCDS46805.2	.	.	.	.	.	.	.	.	.	.	G	15.57	2.874141	0.51695	.	.	ENSG00000114853	ENST00000232974;ENST00000542870;ENST00000457842;ENST00000505904	T;T;T	0.57752	0.38;0.38;0.38	4.95	4.95	0.65309	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	D	0.000000	T	0.81427	0.4820	H	0.95816	3.725	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.87729	0.2578	10	0.87932	D	0	-13.9079	18.1798	0.89773	0.0:0.0:1.0:0.0	.	119	Q9UFB7	ZBT47_HUMAN	Y	495;394;119;41	ENSP00000232974:C495Y;ENSP00000411491:C119Y;ENSP00000420968:C41Y	ENSP00000232974:C495Y	C	+	2	0	ZBTB47	42677991	1.000000	0.71417	0.444000	0.26895	0.626000	0.37791	9.790000	0.99075	2.302000	0.77476	0.561000	0.74099	TGT		0.522	ZBTB47-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343485.3		NM_145166		31	49	0	0	0	0.021022	0	31	49		
DHX30	22907	broad.mit.edu	37	3	47887699	47887699	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr3:47887699G>C	ENST00000445061.1	+	11	1544	c.1137G>C	c.(1135-1137)caG>caC	p.Q379H	DHX30_ENST00000446256.2_Missense_Mutation_p.Q340H|DHX30_ENST00000457607.1_Missense_Mutation_p.Q407H|DHX30_ENST00000348968.4_Missense_Mutation_p.Q351H	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	379						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)		TCCGGCTGCAGAGTGATGACA	0.542																																						uc003cru.2		NaN																	0				ovary(2)|skin(2)	4						c.(1135-1137)CAG>CAC		DEAH (Asp-Glu-Ala-His) box polypeptide 30							99.0	107.0	104.0					3																	47887699		2203	4300	6503	SO:0001583	missense	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47887699G>C	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.1137G>C	3.37:g.47887699G>C	ENSP00000405620:p.Gln379His					DHX30_uc003crt.2_Missense_Mutation_p.Q340H	p.Q379H	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)	11	1563	+			379					A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	c.1137G>C	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.687863	0.29962	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.03496	3.93;3.92;3.93;3.91	5.36	3.46	0.39613	.	0.362547	0.28778	N	0.014176	T	0.03011	0.0089	N	0.22421	0.69	0.36424	D	0.864518	B;P	0.37573	0.001;0.6	B;B	0.38056	0.002;0.264	T	0.54879	-0.8227	10	0.46703	T	0.11	.	6.726	0.23357	0.1029:0.1744:0.7227:0.0	.	379;340	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	H	340;379;351;407	ENSP00000392601:Q340H;ENSP00000405620:Q379H;ENSP00000343442:Q351H;ENSP00000394682:Q407H	ENSP00000343442:Q351H	Q	+	3	2	DHX30	47862703	0.415000	0.25416	0.979000	0.43373	0.984000	0.73092	0.311000	0.19380	0.552000	0.29026	-0.345000	0.07892	CAG		0.542	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2		NM_138615		63	122	0	0	0	0.01441	0	63	122		
MAP4	4134	broad.mit.edu	37	3	47956392	47956392	+	Silent	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr3:47956392C>G	ENST00000360240.6	-	8	2432	c.1914G>C	c.(1912-1914)ccG>ccC	p.P638P	MAP4_ENST00000426837.2_Silent_p.P655P|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000395734.3_Silent_p.P638P	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	638					cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	CCTCCTCGGCCGGCAAGCTGC	0.443																																						uc003csb.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(1912-1914)CCG>CCC		microtubule-associated protein 4 isoform 1							143.0	148.0	147.0					3																	47956392		2203	4300	6503	SO:0001819	synonymous_variant	4134				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr3:47956392C>G		CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.1914G>C	3.37:g.47956392C>G						MAP4_uc003csc.3_Silent_p.P638P|MAP4_uc011bbf.1_Silent_p.P615P|MAP4_uc003csf.3_Silent_p.P655P	p.P638P	NM_002375	NP_002366	P27816	MAP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	8	2440	-			638					Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Silent	SNP	ENST00000360240.6	37	c.1914G>C	CCDS33750.1																																																																																				0.443	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346085.1		NM_002375		71	135	0	0	0	0.01441	0	71	135		
RNF123	63891	broad.mit.edu	37	3	49742439	49742439	+	Missense_Mutation	SNP	T	T	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr3:49742439T>C	ENST00000327697.6	+	23	2126	c.1982T>C	c.(1981-1983)gTt>gCt	p.V661A	RNF123_ENST00000432042.1_Missense_Mutation_p.V515A	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	661					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GCCCTGGCTGTTGGGGGGCCA	0.677																																						uc003cxh.2		NaN																	0				kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1)	7						c.(1981-1983)GTT>GCT		ring finger protein 123							10.0	13.0	12.0					3																	49742439		2192	4283	6475	SO:0001583	missense	63891					cytoplasm	ligase activity|protein binding|zinc ion binding	g.chr3:49742439T>C	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.1982T>C	3.37:g.49742439T>C	ENSP00000328287:p.Val661Ala					RNF123_uc010hky.1_Missense_Mutation_p.V323A|RNF123_uc003cxi.2_RNA	p.V661A	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)	23	2068	+			661					A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	37	c.1982T>C	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	T	14.46	2.540972	0.45280	.	.	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000432042	T;T	0.76316	-0.73;-1.01	4.87	4.87	0.63330	.	0.709187	0.13379	N	0.392270	T	0.62085	0.2399	N	0.14661	0.345	0.80722	D	1	B;B	0.12013	0.005;0.005	B;B	0.14023	0.01;0.007	T	0.54255	-0.8321	10	0.12766	T	0.61	-0.0065	13.6626	0.62376	0.0:0.0:0.0:1.0	.	515;661	C9J266;Q5XPI4	.;RN123_HUMAN	A	661;661;515	ENSP00000328287:V661A;ENSP00000392443:V515A	ENSP00000328287:V661A	V	+	2	0	RNF123	49717443	0.999000	0.42202	0.848000	0.33437	0.711000	0.40976	5.290000	0.65661	1.826000	0.53198	0.459000	0.35465	GTT		0.677	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2		NM_022064		7	5	0	0	0	0.004482	0	7	5		
BAP1	8314	broad.mit.edu	37	3	52436887	52436887	+	Splice_Site	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr3:52436887C>G	ENST00000460680.1	-	15	2362	c.1891G>C	c.(1891-1893)Gag>Cag	p.E631Q	BAP1_ENST00000296288.5_Splice_Site_p.E613Q	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					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)	p.E631_A634del(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		GCCAGCAGCTCCTGCCAAAAC	0.567			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""																															GBM(101;493 1458 7992 21037 25532)	uc003ddx.2		NaN		Rec	yes		3	3p21.31-p21.2	8314	N|Mis|F|S|O	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)			E			uveal melanoma|breast|NSCLC		1	Deletion - In frame(1)	p.E631_A634del(1)|p.E631fs*3(1)	eye(1)	pleura(32)|eye(28)|lung(2)|ovary(2)|breast(1)	65						c.(1891-1893)GAG>CAG		BRCA1 associated protein-1							103.0	100.0	101.0					3																	52436887		2203	4300	6503	SO:0001630	splice_region_variant	8314				monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:52436887C>G	AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.1891-1G>C	3.37:g.52436887C>G						BAP1_uc003ddw.2_RNA|BAP1_uc010hmg.2_RNA|BAP1_uc010hmh.2_Intron	p.E631Q	NM_004656	NP_004647	Q92560	BAP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	15	2006	-			631			Potential.|Interaction with BRCA1.		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Missense_Mutation	SNP	ENST00000460680.1	37	c.1891G>C	CCDS2853.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.139195	0.77775	.	.	ENSG00000163930	ENST00000460680;ENST00000296288;ENST00000478368	T;T;T	0.56776	0.44;0.44;0.44	5.82	5.82	0.92795	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (1);	0.000000	0.85682	D	0.000000	T	0.41743	0.1172	N	0.16602	0.42	0.80722	D	1	P	0.37781	0.608	B	0.35550	0.205	T	0.45026	-0.9289	10	0.66056	D	0.02	.	20.0989	0.97860	0.0:1.0:0.0:0.0	.	631	Q92560	BAP1_HUMAN	Q	631;613;155	ENSP00000417132:E631Q;ENSP00000296288:E613Q;ENSP00000420647:E155Q	ENSP00000296288:E613Q	E	-	1	0	BAP1	52411927	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.560000	0.82277	2.750000	0.94351	0.655000	0.94253	GAG		0.567	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			Missense_Mutation	18	84	0	0	0	0.006122	0	18	84		
SFMBT1	51460	broad.mit.edu	37	3	52939153	52939153	+	Nonstop_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr3:52939153C>G	ENST00000394752.3	-	21	2982	c.2600G>C	c.(2599-2601)tGa>tCa	p.*867S	SFMBT1_ENST00000296295.6_Nonstop_Mutation_p.*824S|SFMBT1_ENST00000358080.2_Nonstop_Mutation_p.*867S|SFMBT1_ENST00000394750.1_Nonstop_Mutation_p.*867S	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	0					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|negative regulation of muscle organ development (GO:0048635)|negative regulation of transcription, DNA-templated (GO:0045892)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		TTGTCCTTCTCAGTTGGCAAA	0.453																																						uc003dgf.2		NaN																	0				ovary(1)	1						c.(2599-2601)TGA>TCA		Scm-like with four mbt domains 1							116.0	105.0	109.0					3																	52939153		2203	4300	6503	SO:0001578	stop_lost	51460				regulation of transcription, DNA-dependent	nucleus		g.chr3:52939153C>G	AF168132	CCDS2867.1	3p21.31	2013-01-10			ENSG00000163935	ENSG00000163935		"""Sterile alpha motif (SAM) domain containing"""	20255	protein-coding gene	gene with protein product		607319				10661410	Standard	NM_016329		Approved	RU1, DKFZp434L243, SFMBT	uc003dgh.3	Q9UHJ3	OTTHUMG00000159052	ENST00000394752.3:c.2600G>C	3.37:g.52939153C>G						SFMBT1_uc010hmr.2_Nonstop_Mutation_p.*771S|SFMBT1_uc003dgg.2_Nonstop_Mutation_p.*867S|SFMBT1_uc003dgh.2_Nonstop_Mutation_p.*867S	p.*867S	NM_001005159	NP_001005159	Q9UHJ3	SMBT1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)	22	3169	-			867					Q402F7|Q96C73|Q9Y4Q9	Nonstop_Mutation	SNP	ENST00000394752.3	37	c.2600G>C	CCDS2867.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.698135	0.68386	.	.	ENSG00000163935	ENST00000394752;ENST00000358080;ENST00000296295;ENST00000394750	.	.	.	6.16	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2873	0.60251	0.0:0.9279:0.0:0.0721	.	.	.	.	S	867;867;824;867	.	.	X	-	2	2	SFMBT1	52914193	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.411000	0.44600	2.937000	0.99478	0.650000	0.86243	TGA		0.453	SFMBT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353040.3		NM_016329		59	39	0	0	0	0.01441	0	59	39		
EPHA6	285220	broad.mit.edu	37	3	96706766	96706766	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr3:96706766G>A	ENST00000389672.5	+	3	1081	c.1043G>A	c.(1042-1044)gGa>gAa	p.G348E	EPHA6_ENST00000542517.1_Missense_Mutation_p.G254E|EPHA6_ENST00000470610.2_Missense_Mutation_p.G348E	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	254	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.					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						GGAGCTGATGGAGATTGGCTG	0.428																																						uc010how.1		NaN																	0				stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						c.(1042-1044)GGA>GAA		EPH receptor A6 isoform a							103.0	99.0	100.0					3																	96706766		1944	4164	6108	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:96706766G>A	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.1043G>A	3.37:g.96706766G>A	ENSP00000374323:p.Gly348Glu					EPHA6_uc003drp.1_Missense_Mutation_p.G348E	p.G348E	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN			3	1086	+			253			Extracellular (Potential).		D6RAL5	Missense_Mutation	SNP	ENST00000389672.5	37	c.1043G>A	CCDS46876.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.9|22.9	4.344088|4.344088	0.82022|0.82022	.|.	.|.	ENSG00000080224|ENSG00000080224	ENST00000470610;ENST00000389672;ENST00000542517|ENST00000506569	T;D;T|.	0.90676|.	3.36;-2.71;2.75|.	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	0.000000|.	0.64402|.	U|.	0.000005|.	D|.	0.88603|.	0.6481|.	H|H	0.96576|0.96576	3.845|3.845	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|.	0.92224|.	0.5787|.	10|.	0.87932|.	D|.	0|.	.|.	19.258|19.258	0.93955|0.93955	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	348;348|.	B3KS12;E7EU71|.	.;.|.	E|X	348;348;254|292	ENSP00000420598:G348E;ENSP00000374323:G348E;ENSP00000439758:G254E|.	ENSP00000374323:G348E|.	G|W	+|+	2|3	0|0	EPHA6|EPHA6	98189456|98189456	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.875000|0.875000	0.50365|0.50365	9.734000|9.734000	0.98822|0.98822	2.606000|2.606000	0.88127|0.88127	0.650000|0.650000	0.86243|0.86243	GGA|TGG		0.428	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3		NM_001080448		75	69	0	0	0	0.01441	0	75	69		
MORC1	27136	broad.mit.edu	37	3	108782032	108782032	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr3:108782032C>T	ENST00000483760.1	-	10	905	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K	MORC1_ENST00000232603.5_Missense_Mutation_p.E288K					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						TTTTTAACTTCATCTTTAAAT	0.308																																						uc003dxl.2		NaN																	0				ovary(3)|skin(3)|breast(2)	8						c.(862-864)GAA>AAA		MORC family CW-type zinc finger 1							153.0	136.0	142.0					3																	108782032		2203	4298	6501	SO:0001583	missense	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108782032C>T	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.862G>A	3.37:g.108782032C>T	ENSP00000417282:p.Glu288Lys					MORC1_uc011bhn.1_Missense_Mutation_p.E288K	p.E288K	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN			10	949	-			288			Potential.			Missense_Mutation	SNP	ENST00000483760.1	37	c.862G>A		.	.	.	.	.	.	.	.	.	.	C	26.5	4.743992	0.89663	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.06528	3.29;3.3	5.28	5.28	0.74379	.	0.000000	0.52532	D	0.000065	T	0.27489	0.0675	M	0.84326	2.69	0.40956	D	0.984587	D;P	0.89917	1.0;0.58	D;B	0.71184	0.972;0.336	T	0.00986	-1.1490	10	0.49607	T	0.09	-30.9776	16.4385	0.83889	0.0:1.0:0.0:0.0	.	288;288	E7ERX1;Q86VD1	.;MORC1_HUMAN	K	288	ENSP00000232603:E288K;ENSP00000417282:E288K	ENSP00000232603:E288K	E	-	1	0	MORC1	110264722	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.432000	0.52824	2.754000	0.94517	0.585000	0.79938	GAA		0.308	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1				16	109	0	0	0	0.007413	0	16	109		
GSK3B	2932	broad.mit.edu	37	3	119562103	119562103	+	Splice_Site	SNP	T	T	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr3:119562103T>A	ENST00000264235.8	-	10	2176	c.1194A>T	c.(1192-1194)tcA>tcT	p.S398S	GSK3B_ENST00000473886.1_Intron|GSK3B_ENST00000316626.5_Splice_Site_p.S411S	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta	398					axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell migration (GO:0016477)|cellular response to interleukin-3 (GO:0036016)|cellular response to mechanical stimulus (GO:0071260)|circadian rhythm (GO:0007623)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition (GO:0001837)|ER overload response (GO:0006983)|establishment of cell polarity (GO:0030010)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fat cell differentiation (GO:0045444)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hippocampus development (GO:0021766)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|myoblast fusion (GO:0007520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of protein binding (GO:0032091)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of type B pancreatic cell development (GO:2000077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein binding (GO:0032092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|protein localization to microtubule (GO:0035372)|protein phosphorylation (GO:0006468)|re-entry into mitotic cell cycle (GO:0000320)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of microtubule-based process (GO:0032886)|regulation of neuronal synaptic plasticity (GO:0048168)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|superior temporal gyrus development (GO:0071109)	beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|kinase activity (GO:0016301)|NF-kappaB binding (GO:0051059)|p53 binding (GO:0002039)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II transcription factor binding (GO:0001085)|tau-protein kinase activity (GO:0050321)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	CGTTCTTACCTGACGCTGCTG	0.502																																						uc003edo.2		NaN																	0				lung(2)	2						c.(1192-1194)TCA>TCT		glycogen synthase kinase 3 beta isoform 2	Lithium(DB01356)						84.0	86.0	85.0					3																	119562103		2203	4300	6503	SO:0001630	splice_region_variant	2932				axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding	g.chr3:119562103T>A	BC012760	CCDS2996.1, CCDS54628.1	3q13.3	2008-02-15			ENSG00000082701	ENSG00000082701			4617	protein-coding gene	gene with protein product		605004				10486203	Standard	NM_002093		Approved		uc003edm.3	P49841	OTTHUMG00000133765	ENST00000264235.8:c.1195+1A>T	3.37:g.119562103T>A						GSK3B_uc003edn.2_Silent_p.S411S|GSK3B_uc003edm.2_Intron	p.S398S	NM_001146156	NP_001139628	P49841	GSK3B_HUMAN		GBM - Glioblastoma multiforme(114;0.24)	10	2177	-			398					D3DN89|Q9BWH3|Q9UL47	Silent	SNP	ENST00000264235.8	37	c.1194A>T	CCDS54628.1																																																																																				0.502	GSK3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258240.2			Silent	29	63	0	0	0	0.008361	0	29	63		
PLXNA1	5361	broad.mit.edu	37	3	126707544	126707544	+	Silent	SNP	T	T	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr3:126707544T>G	ENST00000393409.2	+	1	108	c.108T>G	c.(106-108)ggT>ggG	p.G36G	PLXNA1_ENST00000251772.4_Silent_p.G13G	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	36	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)	p.G13G(4)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CAGGCGGGGGTTCACAGCCCC	0.682																																						uc003ejg.2		NaN																	4	Substitution - coding silent(4)		lung(2)|kidney(2)	ovary(1)|pancreas(1)|skin(1)	3						c.(37-39)GGT>GGG		plexin A1							26.0	27.0	27.0					3																	126707544		2203	4300	6503	SO:0001819	synonymous_variant	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126707544T>G	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.108T>G	3.37:g.126707544T>G							p.G13G	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	1	43	+			36			Sema.|Extracellular (Potential).			Silent	SNP	ENST00000393409.2	37	c.39T>G	CCDS33847.2																																																																																				0.682	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1		NM_032242		7	20	0	0	0	0.007413	0	7	20		
EEFSEC	60678	broad.mit.edu	37	3	127981020	127981020	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr3:127981020G>A	ENST00000254730.6	+	3	628	c.574G>A	c.(574-576)Gag>Aag	p.E192K	EEFSEC_ENST00000483457.1_Missense_Mutation_p.E192K	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	192	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				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						GGGGGGACCAGAGGCCCCCGA	0.557																																						uc003eki.2		NaN																	0				ovary(1)	1						c.(574-576)GAG>AAG		eukaryotic elongation factor,							90.0	104.0	99.0					3																	127981020		2203	4300	6503	SO:0001583	missense	60678					cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity	g.chr3:127981020G>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.574G>A	3.37:g.127981020G>A	ENSP00000254730:p.Glu192Lys					EEFSEC_uc003ekj.2_Missense_Mutation_p.E192K	p.E192K	NM_021937	NP_068756	P57772	SELB_HUMAN			3	612	+			192					Q96HZ6	Missense_Mutation	SNP	ENST00000254730.6	37	c.574G>A	CCDS33849.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.109187	0.37242	.	.	ENSG00000132394	ENST00000254730;ENST00000483457	T;T	0.54479	0.98;0.57	5.45	5.45	0.79879	Protein synthesis factor, GTP-binding (1);	0.152696	0.56097	D	0.000023	T	0.56673	0.2001	M	0.64080	1.96	0.52501	D	0.999958	P;B	0.45283	0.855;0.039	P;B	0.46825	0.528;0.047	T	0.51872	-0.8650	10	0.13853	T	0.58	-12.8763	17.4767	0.87661	0.0:0.0:1.0:0.0	.	192;192	C9J8T0;P57772	.;SELB_HUMAN	K	192	ENSP00000254730:E192K;ENSP00000417660:E192K	ENSP00000254730:E192K	E	+	1	0	EEFSEC	129463710	1.000000	0.71417	0.998000	0.56505	0.122000	0.20287	9.064000	0.93933	2.546000	0.85860	0.650000	0.86243	GAG		0.557	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356738.2		NM_021937		20	162	0	0	0	0.012319	0	20	162		
H1FX	8971	broad.mit.edu	37	3	129034635	129034635	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr3:129034635C>G	ENST00000333762.4	-	1	485	c.111G>C	c.(109-111)aaG>aaC	p.K37N	H1FX-AS1_ENST00000383461.2_RNA|H1FX-AS1_ENST00000502789.2_RNA|H1FX-AS1_ENST00000537780.1_RNA|H1FX-AS1_ENST00000433902.2_RNA|H1FX-AS1_ENST00000511998.1_RNA	NM_006026.3	NP_006017.1	Q92522	H1X_HUMAN	H1 histone family, member X	37					nucleosome assembly (GO:0006334)	nucleolus (GO:0005730)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			kidney(1)|ovary(1)|urinary_tract(2)	4						TCTTGCTATTCTTCCTCTTCT	0.622																																						uc003elx.2		NaN																	0					0						c.(109-111)AAG>AAC		H1 histone family, member X							35.0	24.0	28.0					3																	129034635		2200	4300	6500	SO:0001583	missense	8971				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr3:129034635C>G	D64142	CCDS3057.1	3q21.3	2011-08-16			ENSG00000184897	ENSG00000184897		"""Histones / Replication-independent"""	4722	protein-coding gene	gene with protein product		602785				8964515, 9439656	Standard	NM_006026		Approved	MGC15959, MGC8350, H1X	uc003elx.3	Q92522	OTTHUMG00000159450	ENST00000333762.4:c.111G>C	3.37:g.129034635C>G	ENSP00000329662:p.Lys37Asn					C3orf47_uc011bkv.1_5'Flank	p.K37N	NM_006026	NP_006017	Q92522	H1X_HUMAN			1	486	-			37						Missense_Mutation	SNP	ENST00000333762.4	37	c.111G>C	CCDS3057.1	.	.	.	.	.	.	.	.	.	.	C	8.897	0.955447	0.18507	.	.	ENSG00000184897	ENST00000333762	T	0.10960	2.82	3.36	3.36	0.38483	.	0.869624	0.09570	U	0.784376	T	0.06280	0.0162	N	0.19112	0.55	0.41046	D	0.985265	P	0.44578	0.838	B	0.36134	0.218	T	0.39583	-0.9607	10	0.31617	T	0.26	-13.4258	6.5803	0.22589	0.0:0.8605:0.0:0.1394	.	37	Q92522	H1X_HUMAN	N	37	ENSP00000329662:K37N	ENSP00000329662:K37N	K	-	3	2	H1FX	130517325	0.995000	0.38212	0.024000	0.17045	0.031000	0.12232	1.199000	0.32235	1.416000	0.47057	0.462000	0.41574	AAG		0.622	H1FX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355455.2		NM_006026		3	9	0	0	0	0.004672	0	3	9		
ARMC8	25852	broad.mit.edu	37	3	137964026	137964026	+	Splice_Site	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr3:137964026G>A	ENST00000469044.1	+	12	1405		c.e12+1		ARMC8_ENST00000471453.1_Missense_Mutation_p.V365M|ARMC8_ENST00000393058.3_Splice_Site|ARMC8_ENST00000461822.1_Splice_Site|ARMC8_ENST00000491704.1_Splice_Site|ARMC8_ENST00000470821.1_Missense_Mutation_p.V379M|ARMC8_ENST00000481646.1_Splice_Site|ARMC8_ENST00000538260.1_Splice_Site|ARMC8_ENST00000489213.1_Missense_Mutation_p.V337M|ARMC8_ENST00000358441.2_Missense_Mutation_p.V365M|ARMC8_ENST00000485396.1_Splice_Site	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8											endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						CCGGAAGAAGGTGAGTCTGGG	0.517																																						uc003esa.1		NaN																	0					0						c.e13+1		armadillo repeat containing 8 isoform 2							64.0	62.0	63.0					3																	137964026		2203	4300	6503	SO:0001630	splice_region_variant	25852						binding	g.chr3:137964026G>A		CCDS3098.1, CCDS54646.1, CCDS58853.1, CCDS58854.1, CCDS75020.1	3q22	2013-02-14			ENSG00000114098	ENSG00000114098		"""Armadillo repeat containing"""	24999	protein-coding gene	gene with protein product	"""GID complex subunit 5, VID28 homolog (S. cerevisiae)"""					11042152	Standard	NM_014154		Approved	HSPC056, DKFZP434A043, GID5, VID28	uc003esa.2	Q8IUR7	OTTHUMG00000159821	ENST00000469044.1:c.1134+1G>A	3.37:g.137964026G>A						ARMC8_uc003erw.2_Missense_Mutation_p.V365M|ARMC8_uc003erx.2_Missense_Mutation_p.V365M|ARMC8_uc003ery.2_Missense_Mutation_p.V337M|ARMC8_uc003erz.2_Missense_Mutation_p.V337M|ARMC8_uc011bmf.1_Splice_Site_p.K347_splice|ARMC8_uc011bmg.1_Splice_Site_p.K311_splice|ARMC8_uc011bmh.1_Splice_Site_p.K305_splice|ARMC8_uc003esb.1_Splice_Site_p.K336_splice|ARMC8_uc003esc.1_Splice_Site_p.K136_splice	p.K364_splice	NM_015396	NP_056211	Q8IUR7	ARMC8_HUMAN			13	1459	+								A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Splice_Site	SNP	ENST00000469044.1	37	c.1092_splice		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.3|20.3	3.964553|3.964553	0.74131|0.74131	.|.	.|.	ENSG00000114098|ENSG00000114098	ENST00000481646;ENST00000469044;ENST00000491704;ENST00000461822;ENST00000485396;ENST00000538260;ENST00000393058;ENST00000463485;ENST00000539459|ENST00000358441;ENST00000489213;ENST00000471453;ENST00000470821	.|T;T;T;T	.|0.38240	.|1.88;1.15;1.88;1.88	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	.|.	.|.	.|.	.|.	.|T	.|0.24890	.|0.0604	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	.|B;B	.|0.27791	.|0.189;0.037	.|B;B	.|0.30179	.|0.112;0.022	.|T	.|0.07385	.|-1.0775	.|8	.|.	.|.	.|.	.|.	16.7031|16.7031	0.85364|0.85364	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|379;365	.|G5E9V6;Q8IUR7-6	.|.;.	.|M	-1|365;337;365;379	.|ENSP00000351221:V365M;ENSP00000418412:V337M;ENSP00000420440:V365M;ENSP00000418405:V379M	.|.	.|V	+|+	.|1	.|0	ARMC8|ARMC8	139446716|139446716	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.993000|7.993000	0.88291|0.88291	2.522000|2.522000	0.85027|0.85027	0.650000|0.650000	0.86243|0.86243	.|GTG		0.517	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357560.1		NM_015396	Intron	23	74	0	0	0	0.021523	0	23	74		
MED12L	116931	broad.mit.edu	37	3	151112625	151112625	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr3:151112625C>T	ENST00000474524.1	+	37	5723	c.5685C>T	c.(5683-5685)ctC>ctT	p.L1895L	MED12L_ENST00000273432.4_Silent_p.L1755L	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1895	Gln-rich.					mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGCGACTTCTCAGGCAAGCCC	0.522																																						uc003eyp.2		NaN																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(5683-5685)CTC>CTT		mediator of RNA polymerase II transcription,							66.0	67.0	66.0					3																	151112625		2203	4300	6503	SO:0001819	synonymous_variant	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151112625C>T	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.5685C>T	3.37:g.151112625C>T						MED12L_uc011bnz.1_Silent_p.L1755L	p.L1895L	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		37	5723	+			1895			Gln-rich.		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP	ENST00000474524.1	37	c.5685C>T	CCDS33876.1																																																																																				0.522	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2		NM_053002		50	62	0	0	0	0.01441	0	50	62		
SMC4	10051	broad.mit.edu	37	3	160141236	160141236	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr3:160141236G>A	ENST00000357388.3	+	14	2494	c.2043G>A	c.(2041-2043)atG>atA	p.M681I	RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Missense_Mutation_p.M681I|SMC4_ENST00000469762.1_Missense_Mutation_p.M656I|SMC4_ENST00000344722.5_Missense_Mutation_p.M681I|SMC4_ENST00000360111.2_Missense_Mutation_p.M681I	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	681	Flexible hinge.				kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CGAAAAAGATGACCGAAATTC	0.284																																						uc003fdh.2		NaN																	0				ovary(1)|breast(1)	2						c.(2041-2043)ATG>ATA		SMC4 structural maintenance of chromosomes							57.0	64.0	62.0					3																	160141236		2116	4277	6393	SO:0001583	missense	10051				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	g.chr3:160141236G>A	AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.2043G>A	3.37:g.160141236G>A	ENSP00000349961:p.Met681Ile					IFT80_uc003fda.2_Intron|SMC4_uc010hwc.1_Missense_Mutation_p.M445I|SMC4_uc003fdi.2_Missense_Mutation_p.M656I|SMC4_uc003fdj.2_Missense_Mutation_p.M681I|SMC4_uc010hwd.2_Missense_Mutation_p.M681I|SMC4_uc003fdl.2_Missense_Mutation_p.M384I	p.M681I	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		14	2156	+			681			Flexible hinge.		A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	ENST00000357388.3	37	c.2043G>A	CCDS3189.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.903585	0.33628	.	.	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000469762;ENST00000462787;ENST00000344722;ENST00000545277	D;D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96;-1.96	5.96	5.09	0.68999	SMCs flexible hinge (3);RecF/RecN/SMC (1);	0.113441	0.85682	D	0.000000	T	0.76772	0.4034	L	0.28694	0.88	0.44780	D	0.997787	B;B;B;B	0.32160	0.057;0.063;0.002;0.358	B;B;B;B	0.35039	0.031;0.072;0.008;0.194	T	0.71738	-0.4502	10	0.18710	T	0.47	-23.0966	11.5321	0.50616	0.0655:0.0:0.8094:0.1251	.	681;656;656;681	Q9NTJ3-2;B3KXX5;E9PD53;Q9NTJ3	.;.;.;SMC4_HUMAN	I	681;681;656;681;681;275	ENSP00000349961:M681I;ENSP00000353225:M681I;ENSP00000417964:M656I;ENSP00000420734:M681I;ENSP00000341382:M681I	ENSP00000341382:M681I	M	+	3	0	SMC4	161623930	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	4.582000	0.60957	1.536000	0.49237	0.650000	0.86243	ATG		0.284	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1				73	116	0	0	0	0.01441	0	73	116		
MUC4	4585	broad.mit.edu	37	3	195518308	195518308	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr3:195518308C>G	ENST00000463781.3	-	2	602	c.143G>C	c.(142-144)gGc>gCc	p.G48A	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.G48A|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	48					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.G48V(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGTTGTTGAGCCTGTTGAGGT	0.463																																						uc011bto.1		NaN																	2	Substitution - Missense(2)		lung(2)		0						c.(142-144)GGC>GCC		mucin 4 isoform a							327.0	295.0	305.0					3																	195518308		2002	4184	6186	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195518308C>G	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.143G>C	3.37:g.195518308C>G	ENSP00000417498:p.Gly48Ala					MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_5'Flank	p.G48A	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	603	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	48					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.143G>C	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	2.384	-0.341525	0.05243	.	.	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	T;T	0.30981	1.51;1.51	3.56	-7.13	0.01532	.	28.468900	0.00397	U	0.000043	T	0.15435	0.0372	N	0.14661	0.345	0.09310	N	1	B	0.22080	0.064	B	0.20767	0.031	T	0.28902	-1.0029	10	0.07482	T	0.82	0.1629	9.5083	0.39060	0.1665:0.5288:0.3047:0.0	.	48	E7ESK3	.	A	48;48;22	ENSP00000417498:G48A;ENSP00000420243:G48A	ENSP00000376209:G22A	G	-	2	0	MUC4	197002703	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.807000	0.00757	-2.950000	0.00293	-0.470000	0.05040	GGC		0.463	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406		49	258	0	0	0	0.01441	0	49	258		
SENP5	205564	broad.mit.edu	37	3	196613274	196613274	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr3:196613274G>A	ENST00000323460.5	+	2	1471	c.1222G>A	c.(1222-1224)Gat>Aat	p.D408N	SENP5_ENST00000419026.1_Intron|SENP5_ENST00000445299.2_Missense_Mutation_p.D408N	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	408					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		TTCTGTCAGTGATGACAGAGT	0.423																																					Ovarian(47;891 1095 11174 13858 51271)	uc003fwz.3		NaN																	0				breast(2)|lung(1)	3						c.(1222-1224)GAT>AAT		SUMO1/sentrin specific peptidase 5							90.0	94.0	92.0					3																	196613274		2203	4300	6503	SO:0001583	missense	205564				cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity	g.chr3:196613274G>A	BC030705	CCDS3322.1	3q29	2005-08-17	2005-08-17		ENSG00000119231	ENSG00000119231			28407	protein-coding gene	gene with protein product		612845	"""SUMO1/sentrin specific protease 5"""			12477932	Standard	NM_152699		Approved	MGC27076	uc003fwz.4	Q96HI0	OTTHUMG00000155527	ENST00000323460.5:c.1222G>A	3.37:g.196613274G>A	ENSP00000327197:p.Asp408Asn					SENP5_uc011bty.1_Missense_Mutation_p.D408N	p.D408N	NM_152699	NP_689912	Q96HI0	SENP5_HUMAN	Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)	2	1471	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		408					B4DY82|Q96SA5	Missense_Mutation	SNP	ENST00000323460.5	37	c.1222G>A	CCDS3322.1	.	.	.	.	.	.	.	.	.	.	G	8.898	0.955563	0.18507	.	.	ENSG00000119231	ENST00000323460;ENST00000445299	T;T	0.35048	1.33;1.33	5.4	4.52	0.55395	.	0.654114	0.14291	N	0.328883	T	0.27697	0.0681	N	0.24115	0.695	0.80722	D	1	P;P	0.48764	0.808;0.915	B;B	0.42771	0.309;0.397	T	0.02214	-1.1194	10	0.37606	T	0.19	-1.4245	12.0973	0.53763	0.0835:0.0:0.9165:0.0	.	408;408	B4DY82;Q96HI0	.;SENP5_HUMAN	N	408	ENSP00000327197:D408N;ENSP00000390231:D408N	ENSP00000327197:D408N	D	+	1	0	SENP5	198097671	0.974000	0.33945	0.081000	0.20488	0.007000	0.05969	2.988000	0.49386	1.414000	0.47017	0.655000	0.94253	GAT		0.423	SENP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340524.1		NM_152699		27	107	0	0	0	0.00632	0	27	107		
WHSC1	7468	broad.mit.edu	37	4	1902964	1902964	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr4:1902964C>G	ENST00000382895.3	+	4	1014	c.583C>G	c.(583-585)Cct>Gct	p.P195A	WHSC1_ENST00000398261.1_Missense_Mutation_p.P195A|WHSC1_ENST00000382892.2_Missense_Mutation_p.P195A|WHSC1_ENST00000382891.5_Missense_Mutation_p.P195A|WHSC1_ENST00000420906.2_Missense_Mutation_p.P195A|WHSC1_ENST00000503128.1_Missense_Mutation_p.P195A|WHSC1_ENST00000436793.1_Missense_Mutation_p.P195A|WHSC1_ENST00000508803.1_Missense_Mutation_p.P195A|WHSC1_ENST00000514045.1_Missense_Mutation_p.P195A	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	195					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GATCTCAAGTCCTTCAGATAA	0.493			T	IGH@	MM																																	uc003gdz.3		NaN		Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		0				ovary(3)|lung(3)|skin(2)|pancreas(1)	9						c.(583-585)CCT>GCT		Wolf-Hirschhorn syndrome candidate 1 protein							61.0	56.0	58.0					4																	1902964		2203	4300	6503	SO:0001583	missense	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1902964C>G	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.583C>G	4.37:g.1902964C>G	ENSP00000372351:p.Pro195Ala					WHSC1_uc003geb.3_Missense_Mutation_p.P195A|WHSC1_uc003gec.3_Missense_Mutation_p.P195A|WHSC1_uc003ged.3_Missense_Mutation_p.P195A|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gdx.2_Missense_Mutation_p.P195A|WHSC1_uc003gdy.1_Missense_Mutation_p.P195A|WHSC1_uc010icd.1_Missense_Mutation_p.P195A|WHSC1_uc003gea.1_Missense_Mutation_p.P195A|WHSC1_uc010ice.1_Missense_Mutation_p.P195A|WHSC1_uc003geg.1_Missense_Mutation_p.P195A|WHSC1_uc003geh.1_Missense_Mutation_p.P195A	p.P195A	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	2	759	+		all_epithelial(65;1.34e-05)	195					A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	37	c.583C>G	CCDS33940.1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.561429	0.27915	.	.	ENSG00000109685	ENST00000508803;ENST00000514045;ENST00000515806;ENST00000382891;ENST00000382892;ENST00000436793;ENST00000420906;ENST00000382895;ENST00000503128;ENST00000509115;ENST00000398261	D;T;T;D;D;T;T;D;T;T;T	0.95756	-3.8;0.86;0.95;-3.8;-3.8;0.74;0.86;-3.8;0.85;1.01;0.85	5.47	3.7	0.42460	.	0.355972	0.24325	N	0.039504	D	0.90448	0.7009	L	0.36672	1.1	0.28299	N	0.923206	P;P;B;P;P	0.45531	0.86;0.587;0.329;0.86;0.587	B;B;B;B;B	0.41271	0.352;0.225;0.079;0.352;0.225	D	0.84193	0.0446	10	0.35671	T	0.21	.	5.462	0.16622	0.2835:0.5657:0.0:0.1508	.	195;195;195;195;195	O96028-3;O96028-7;O96028;O96028-5;O96028-6	.;.;NSD2_HUMAN;.;.	A	195	ENSP00000423972:P195A;ENSP00000421681:P195A;ENSP00000427434:P195A;ENSP00000372347:P195A;ENSP00000372348:P195A;ENSP00000416725:P195A;ENSP00000399251:P195A;ENSP00000372351:P195A;ENSP00000425761:P195A;ENSP00000422878:P195A;ENSP00000381311:P195A	ENSP00000308780:P195A	P	+	1	0	WHSC1	1872762	0.900000	0.30661	0.033000	0.17914	0.962000	0.63368	0.790000	0.26900	0.632000	0.30432	0.655000	0.94253	CCT		0.493	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2		NM_133330		8	62	0	0	0	0.006214	0	8	62		
MXD4	10608	broad.mit.edu	37	4	2254191	2254191	+	Missense_Mutation	SNP	C	C	T	rs141784187		TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr4:2254191C>T	ENST00000337190.2	-	4	566	c.253G>A	c.(253-255)Gac>Aac	p.D85N	MIR4800_ENST00000537353.2_RNA|MXD4_ENST00000515378.1_5'Flank	NM_006454.2	NP_006445.1	Q14582	MAD4_HUMAN	MAX dimerization protein 4	85	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						CGGGTGCTGTCGGGGCCCAGG	0.632																																						uc003geu.1		NaN																	0					0						c.(253-255)GAC>AAC		MAD4							89.0	87.0	88.0					4																	2254191		2203	4300	6503	SO:0001583	missense	10608				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity	g.chr4:2254191C>T		CCDS3361.1	4p16.3	2008-08-19			ENSG00000123933	ENSG00000123933		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	13906	protein-coding gene	gene with protein product						8521822	Standard	NM_006454		Approved	MAD4, MSTP149, MST149, bHLHc12	uc003geu.1	Q14582	OTTHUMG00000090243	ENST00000337190.2:c.253G>A	4.37:g.2254191C>T	ENSP00000337889:p.Asp85Asn						p.D85N	NM_006454	NP_006445	Q14582	MAD4_HUMAN			4	285	-			85			Helix-loop-helix motif.		A2A335|Q5TZX4	Missense_Mutation	SNP	ENST00000337190.2	37	c.253G>A	CCDS3361.1	.	.	.	.	.	.	.	.	.	.	C	33	5.195239	0.94960	.	.	ENSG00000123933	ENST00000337190	T	0.29397	1.57	4.26	4.26	0.50523	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	T	0.43700	0.1259	L	0.56199	1.76	0.80722	D	1	D	0.56746	0.977	P	0.55455	0.776	T	0.45264	-0.9273	10	0.87932	D	0	-34.0378	14.2206	0.65823	0.0:1.0:0.0:0.0	.	85	Q14582	MAD4_HUMAN	N	85	ENSP00000337889:D85N	ENSP00000337889:D85N	D	-	1	0	MXD4	2223989	1.000000	0.71417	0.984000	0.44739	0.989000	0.77384	7.195000	0.77798	2.199000	0.70637	0.561000	0.74099	GAC		0.632	MXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206519.1		NM_006454		9	40	0	0	0	0.006214	0	9	40		
HTT	3064	broad.mit.edu	37	4	3237489	3237489	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr4:3237489C>T	ENST00000355072.5	+	63	8914	c.8769C>T	c.(8767-8769)ctC>ctT	p.L2923L		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2923					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GCCTGATGCTCACCTGCATGT	0.607																																						uc011bvq.1		NaN																	0				skin(2)|ovary(1)|lung(1)	4						c.(8773-8775)CTC>CTT		huntingtin							23.0	27.0	25.0					4																	3237489		2117	4229	6346	SO:0001819	synonymous_variant	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3237489C>T	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.8769C>T	4.37:g.3237489C>T							p.L2925L	NM_002111	NP_002102	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	64	8920	+		all_epithelial(65;0.18)	2923					Q9UQB7	Silent	SNP	ENST00000355072.5	37	c.8775C>T	CCDS43206.1																																																																																				0.607	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2		NM_002111		7	22	0	0	0	0.001984	0	7	22		
NSG1	27065	broad.mit.edu	37	4	4419001	4419001	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr4:4419001G>A	ENST00000421177.2	+	9	2388	c.397G>A	c.(397-399)Gcg>Acg	p.A133T	NSG1_ENST00000505246.1_Missense_Mutation_p.A133T|NSG1_ENST00000397958.1_Missense_Mutation_p.A133T|NSG1_ENST00000506380.1_Missense_Mutation_p.A133T|NSG1_ENST00000504171.1_Missense_Mutation_p.A94T|STX18_ENST00000505286.1_Intron|NSG1_ENST00000433139.2_Missense_Mutation_p.A133T|NSG1_ENST00000513555.1_Missense_Mutation_p.A133T			P42857	NSG1_HUMAN		133					clathrin coat assembly (GO:0048268)|dopamine receptor signaling pathway (GO:0007212)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)											GAGCTACTACGCGGAGCAAGA	0.567																																						uc011bvz.1		NaN																	0				ovary(1)	1						c.(397-399)GCG>ACG		brain neuron cytoplasmic protein 1							75.0	79.0	78.0					4																	4419001		2203	4300	6503	SO:0001583	missense	27065				dopamine receptor signaling pathway	Golgi membrane|integral to membrane|nucleus	dopamine receptor binding	g.chr4:4419001G>A																												ENST00000421177.2:c.397G>A	4.37:g.4419001G>A	ENSP00000388823:p.Ala133Thr					D4S234E_uc011bwa.1_Missense_Mutation_p.A94T|D4S234E_uc003ghz.2_Missense_Mutation_p.A133T|D4S234E_uc003gia.2_Missense_Mutation_p.A133T|D4S234E_uc003gib.2_Missense_Mutation_p.A133T	p.A133T	NM_014392	NP_055207	P42857	NSG1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.166)	8	1678	+			133			Lumenal (Potential).		B4DXC5|Q49AQ1	Missense_Mutation	SNP	ENST00000421177.2	37	c.397G>A	CCDS3376.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.810203	0.00606	.	.	ENSG00000168824	ENST00000421177;ENST00000513555;ENST00000505246;ENST00000506380;ENST00000397958;ENST00000433139;ENST00000504171	.	.	.	4.4	1.03	0.20045	.	0.567126	0.17491	N	0.172347	T	0.14442	0.0349	N	0.02011	-0.69	0.80722	D	1	B;B	0.09022	0.0;0.002	B;B	0.09377	0.0;0.004	T	0.30238	-0.9985	9	0.02654	T	1	-0.9067	5.0164	0.14339	0.202:0.0:0.4216:0.3764	.	94;133	B4DXC5;P42857	.;NSG1_HUMAN	T	133;133;133;133;133;133;94	.	ENSP00000381049:A133T	A	+	1	0	AC110814.1	4469902	0.891000	0.30450	0.223000	0.23860	0.044000	0.14063	0.300000	0.19156	0.277000	0.22141	0.561000	0.74099	GCG		0.567	NSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246799.1				20	108	0	0	0	0.007413	0	20	108		
TBC1D1	23216	broad.mit.edu	37	4	37903928	37903928	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr4:37903928C>T	ENST00000261439.4	+	2	567	c.212C>T	c.(211-213)tCt>tTt	p.S71F	TBC1D1_ENST00000402522.1_Missense_Mutation_p.S71F|TBC1D1_ENST00000508802.1_Missense_Mutation_p.S71F	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	71					membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						GTTTCACCCTCTGGACTGAGA	0.547																																						uc003gtb.2		NaN																	0				ovary(1)	1						c.(211-213)TCT>TTT		TBC1 (tre-2/USP6, BUB2, cdc16) domain family,							165.0	138.0	147.0					4																	37903928		2203	4300	6503	SO:0001583	missense	23216					nucleus	Rab GTPase activator activity	g.chr4:37903928C>T	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.212C>T	4.37:g.37903928C>T	ENSP00000261439:p.Ser71Phe					TBC1D1_uc011byd.1_Missense_Mutation_p.S71F|TBC1D1_uc010ifd.2_Missense_Mutation_p.S71F	p.S71F	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN			2	555	+			71					B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Missense_Mutation	SNP	ENST00000261439.4	37	c.212C>T	CCDS33972.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.781530	0.70222	.	.	ENSG00000065882	ENST00000508802;ENST00000261439;ENST00000402522	T;T;T	0.15603	2.41;2.41;2.41	6.07	5.23	0.72850	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);	0.143965	0.32624	N	0.005854	T	0.22399	0.0540	L	0.34521	1.04	0.42587	D	0.993235	D;P	0.54397	0.966;0.774	P;P	0.50440	0.641;0.62	T	0.01512	-1.1336	10	0.87932	D	0	-21.3083	15.1714	0.72875	0.0:0.9319:0.0:0.0681	.	71;71	E9PGH8;Q86TI0	.;TBCD1_HUMAN	F	71	ENSP00000423651:S71F;ENSP00000261439:S71F;ENSP00000383994:S71F	ENSP00000261439:S71F	S	+	2	0	TBC1D1	37580323	0.901000	0.30685	0.919000	0.36401	0.580000	0.36256	2.941000	0.49011	1.585000	0.49928	0.585000	0.79938	TCT		0.547	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2		NM_015173		24	128	0	0	0	0.01892	0	24	128		
N4BP2	55728	broad.mit.edu	37	4	40123292	40123292	+	Silent	SNP	C	C	T	rs368709827		TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr4:40123292C>T	ENST00000261435.6	+	9	3977	c.3561C>T	c.(3559-3561)aaC>aaT	p.N1187N		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1187					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						GTATTAGTAACGCTGACTCAC	0.413																																						uc003guy.3		NaN																	0				lung(3)|breast(2)|kidney(2)|ovary(1)	8						c.(3559-3561)AAC>AAT		Nedd4 binding protein 2		C		0,4406		0,0,2203	70.0	71.0	71.0		3561	-1.8	0.0	4		71	1,8599		0,1,4299	no	coding-synonymous	N4BP2	NM_018177.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1187/1771	40123292	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40123292C>T	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.3561C>T	4.37:g.40123292C>T						N4BP2_uc010ifq.2_Silent_p.N1107N|N4BP2_uc010ifr.2_Silent_p.N1107N	p.N1187N	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN			9	3899	+			1187					A0AVR3|Q9NVK2|Q9P2D4	Silent	SNP	ENST00000261435.6	37	c.3561C>T	CCDS3457.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.191902	0.00302	0.0	1.16E-4	ENSG00000078177	ENST00000513269	.	.	.	5.86	-1.75	0.08031	.	.	.	.	.	T	0.28234	0.0697	.	.	.	0.18873	N	0.999987	.	.	.	.	.	.	T	0.30119	-0.9989	4	.	.	.	-0.1944	5.9473	0.19225	0.2357:0.3009:0.0:0.4634	.	.	.	.	C	834	.	.	R	+	1	0	N4BP2	39799687	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.027000	0.03592	-0.437000	0.07243	-1.051000	0.02340	CGC		0.413	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2		NM_018177		61	101	0	0	0	0.01441	0	61	101		
TMPRSS11B	132724	broad.mit.edu	37	4	69101948	69101948	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr4:69101948G>A	ENST00000332644.5	-	3	322	c.161C>T	c.(160-162)tCt>tTt	p.S54F		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	54	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.					extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						TGTGACTCCAGAAATATGAAA	0.303																																						uc003hdw.3		NaN																	0				ovary(1)	1						c.(160-162)TCT>TTT		transmembrane protease, serine 11B							43.0	43.0	43.0					4																	69101948		2199	4297	6496	SO:0001583	missense	132724				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:69101948G>A	BX537945	CCDS3521.1	4q13.2	2010-04-13			ENSG00000185873	ENSG00000185873		"""Serine peptidases / Transmembrane"""	25398	protein-coding gene	gene with protein product							Standard	NM_182502		Approved		uc003hdw.4	Q86T26	OTTHUMG00000129301	ENST00000332644.5:c.161C>T	4.37:g.69101948G>A	ENSP00000330475:p.Ser54Phe						p.S54F	NM_182502	NP_872308	Q86T26	TM11B_HUMAN			3	297	-			54			SEA.|Extracellular (Potential).		A8K4D9	Missense_Mutation	SNP	ENST00000332644.5	37	c.161C>T	CCDS3521.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.239380	0.22711	.	.	ENSG00000185873	ENST00000332644	T	0.38722	1.12	4.1	2.32	0.28847	SEA (2);	0.797629	0.10464	N	0.671561	T	0.34890	0.0913	L	0.54323	1.7	0.09310	N	1	B	0.16166	0.016	B	0.15052	0.012	T	0.28586	-1.0039	10	0.35671	T	0.21	.	5.201	0.15264	0.1095:0.0:0.6889:0.2016	.	54	Q86T26	TM11B_HUMAN	F	54	ENSP00000330475:S54F	ENSP00000330475:S54F	S	-	2	0	TMPRSS11B	68784543	0.001000	0.12720	0.050000	0.19076	0.905000	0.53344	-0.026000	0.12392	0.481000	0.27557	0.585000	0.79938	TCT		0.303	TMPRSS11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251431.2		NM_182502		6	27	0	0	0	0.001984	0	6	27		
DCK	1633	broad.mit.edu	37	4	71888182	71888182	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr4:71888182C>T	ENST00000286648.5	+	3	703	c.306C>T	c.(304-306)ctC>ctT	p.L102L	DCK_ENST00000504952.1_Silent_p.L102L|DCK_ENST00000504730.1_Silent_p.L102L	NM_000788.2	NP_000779.1	P27707	DCK_HUMAN	deoxycytidine kinase	102					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|deoxycytidine kinase activity (GO:0004137)|drug binding (GO:0008144)|nucleoside kinase activity (GO:0019206)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)	9			Lung(101;0.235)		Cladribine(DB00242)|Clofarabine(DB00631)|Cytarabine(DB00987)|Decitabine(DB01262)|Emtricitabine(DB00879)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Lamivudine(DB00709)|Nelarabine(DB01280)|Pemetrexed(DB00642)|Zalcitabine(DB00943)	ATGCCTGTCTCAGTCGAATAA	0.403																																						uc003hfx.2		NaN																	0				ovary(1)	1						c.(304-306)CTC>CTT		deoxycytidine kinase	Cladribine(DB00242)|Clofarabine(DB00631)|Decitabine(DB01262)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Pemetrexed(DB00642)|Zalcitabine(DB00943)						125.0	123.0	124.0					4																	71888182		2203	4300	6503	SO:0001819	synonymous_variant	1633				purine base metabolic process|purine-containing compound salvage|pyrimidine base metabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol|nucleus	ATP binding|deoxycytidine kinase activity|drug binding|phosphotransferase activity, alcohol group as acceptor|protein homodimerization activity	g.chr4:71888182C>T	M60527	CCDS3548.1	4q13.3-q21.1	2008-02-05			ENSG00000156136	ENSG00000156136	2.7.1.74		2704	protein-coding gene	gene with protein product		125450				8406512	Standard	NM_000788		Approved		uc003hfx.3	P27707	OTTHUMG00000129908	ENST00000286648.5:c.306C>T	4.37:g.71888182C>T						DCK_uc011cbb.1_Silent_p.L30L	p.L102L	NM_000788	NP_000779	P27707	DCK_HUMAN	Lung(101;0.235)		3	594	+			102					B2R8V6|Q5TZY7|Q6FI11	Silent	SNP	ENST00000286648.5	37	c.306C>T	CCDS3548.1																																																																																				0.403	DCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252159.2				24	102	0	0	0	0.016522	0	24	102		
WDFY3	23001	broad.mit.edu	37	4	85742700	85742700	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr4:85742700G>A	ENST00000295888.4	-	11	1535	c.1128C>T	c.(1126-1128)caC>caT	p.H376H	WDFY3_ENST00000322366.6_Silent_p.H376H	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	376					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTCTCACACTGTGACCTAGAA	0.338																																						uc003hpd.2		NaN																	0		p.H376Y(1)		ovary(2)|central_nervous_system(1)	3						c.(1126-1128)CAC>CAT		WD repeat and FYVE domain containing 3 isoform							75.0	76.0	76.0					4																	85742700		2200	4295	6495	SO:0001819	synonymous_variant	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85742700G>A	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.1128C>T	4.37:g.85742700G>A						WDFY3_uc003hpf.2_Silent_p.H376H	p.H376H	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	11	1536	-		Hepatocellular(203;0.114)	376					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Silent	SNP	ENST00000295888.4	37	c.1128C>T	CCDS3609.1																																																																																				0.338	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2		NM_014991		24	101	0	0	0	0.01892	0	24	101		
IBSP	3381	broad.mit.edu	37	4	88732815	88732815	+	Missense_Mutation	SNP	A	A	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr4:88732815A>C	ENST00000226284.5	+	7	774	c.707A>C	c.(706-708)gAa>gCa	p.E236A		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	236					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		GGTGGGTTTGAACCTACAACC	0.527																																						uc003hqx.3		NaN																	0					0						c.(706-708)GAA>GCA		integrin-binding sialoprotein precursor							99.0	96.0	97.0					4																	88732815		2203	4300	6503	SO:0001583	missense	3381				biomineral tissue development|cell adhesion|ossification			g.chr4:88732815A>C		CCDS3624.1	4q21.1	2008-07-28	2008-07-28		ENSG00000029559	ENSG00000029559			5341	protein-coding gene	gene with protein product	"""bone sialoprotein"", ""bone sialoprotein II"""	147563				8406493	Standard	NM_004967		Approved	BSP, SP-II, BSP-II	uc003hqx.4	P21815	OTTHUMG00000130600	ENST00000226284.5:c.707A>C	4.37:g.88732815A>C	ENSP00000226284:p.Glu236Ala						p.E236A	NM_004967	NP_004958	P21815	SIAL_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)	7	805	+		Hepatocellular(203;0.114)	236						Missense_Mutation	SNP	ENST00000226284.5	37	c.707A>C	CCDS3624.1	.	.	.	.	.	.	.	.	.	.	A	11.79	1.743250	0.30865	.	.	ENSG00000029559	ENST00000226284	T	0.12361	2.69	5.36	-1.81	0.07882	.	0.823443	0.10873	N	0.624720	T	0.08537	0.0212	L	0.35723	1.085	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.35871	-0.9771	10	0.44086	T	0.13	.	1.7212	0.02912	0.3868:0.2733:0.076:0.2639	.	236	P21815	SIAL_HUMAN	A	236	ENSP00000226284:E236A	ENSP00000226284:E236A	E	+	2	0	IBSP	88951839	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.496000	0.22499	-0.260000	0.09418	0.482000	0.46254	GAA		0.527	IBSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253050.2				9	41	0	0	0	0.006214	0	9	41		
ADH6	130	broad.mit.edu	37	4	100130048	100130048	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr4:100130048C>G	ENST00000237653.7	-	6	989	c.605G>C	c.(604-606)gGa>gCa	p.G202A	RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000407820.2_5'UTR|ADH6_ENST00000504257.1_5'UTR|ADH6_ENST00000394897.1_Missense_Mutation_p.G202A|ADH6_ENST00000394899.2_Missense_Mutation_p.G202A|RP11-696N14.1_ENST00000506454.1_RNA	NM_000672.3	NP_000663	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	202					ethanol oxidation (GO:0006069)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|ethanol binding (GO:0035276)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)	GCCGACTCCTCCCAGGCCAAA	0.458																																						uc003hup.3		NaN																	0				ovary(1)|kidney(1)|skin(1)	3						c.(604-606)GGA>GCA		class V alcohol dehydrogenase isoform 2	Abacavir(DB01048)|NADH(DB00157)						201.0	204.0	203.0					4																	100130048		2203	4300	6503	SO:0001583	missense	130				ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding	g.chr4:100130048C>G	AK092768	CCDS3647.1, CCDS43255.1	4q23	2008-02-05			ENSG00000172955	ENSG00000172955	1.1.1.1	"""Alcohol dehydrogenases"""	255	protein-coding gene	gene with protein product		103735				1881901	Standard	NM_000672		Approved	ADH-5	uc003huo.2	P28332	OTTHUMG00000131024	ENST00000237653.7:c.605G>C	4.37:g.100130048C>G	ENSP00000237653:p.Gly202Ala					uc003hum.1_Intron|ADH6_uc003huo.2_Missense_Mutation_p.G202A|ADH6_uc011cef.1_5'UTR|ADH6_uc010ile.2_Missense_Mutation_p.G202A	p.G202A	NM_000672	NP_000663	P28332	ADH6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	6	699	-			202			NAD (By similarity).		B3KS45|Q58F53	Missense_Mutation	SNP	ENST00000237653.7	37	c.605G>C	CCDS3647.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.597847	0.28445	.	.	ENSG00000172955	ENST00000394897;ENST00000394899;ENST00000237653;ENST00000508558	T;T;T;T	0.78364	1.25;-1.17;-1.17;1.45	4.64	2.81	0.32909	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.90380	0.6989	H	0.99104	4.43	0.80722	D	1	D;D;D	0.76494	0.999;0.996;0.99	P;P;P	0.56751	0.778;0.597;0.805	D	0.91628	0.5316	10	0.87932	D	0	-19.4906	9.8468	0.41032	0.14:0.782:0.0:0.0779	.	202;202;202	E9PBI1;P28332;P28332-2	.;ADH6_HUMAN;.	A	202;202;202;138	ENSP00000378358:G202A;ENSP00000378359:G202A;ENSP00000237653:G202A;ENSP00000426187:G138A	ENSP00000237653:G202A	G	-	2	0	ADH6	100349071	1.000000	0.71417	0.118000	0.21660	0.013000	0.08279	5.090000	0.64498	1.022000	0.39626	0.563000	0.77884	GGA		0.458	ADH6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253665.1		NM_000672		53	253	0	0	0	0.01441	0	53	253		
TET2	54790	broad.mit.edu	37	4	106155204	106155204	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr4:106155204G>A	ENST00000540549.1	+	3	965	c.105G>A	c.(103-105)caG>caA	p.Q35Q	TET2_ENST00000513237.1_Silent_p.Q56Q|TET2_ENST00000394764.1_Silent_p.Q35Q|TET2_ENST00000413648.2_Silent_p.Q35Q|TET2_ENST00000545826.1_Silent_p.Q35Q|TET2_ENST00000305737.2_Silent_p.Q35Q|TET2_ENST00000380013.4_Silent_p.Q35Q			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	35					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CAAAGCTCCAGAATGGAAGCC	0.463			"""Mis N, F"""		MDS																																	uc003hxk.2		NaN		Rec	yes		4	4q24	54790	Mis N|F	tet oncogene family member 2			L			MDS		0				haematopoietic_and_lymphoid_tissue(732)|pancreas(1)	733						c.(103-105)CAG>CAA		tet oncogene family member 2 isoform a							70.0	65.0	67.0					4																	106155204		2203	4300	6503	SO:0001819	synonymous_variant	54790				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr4:106155204G>A	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.105G>A	4.37:g.106155204G>A						TET2_uc011cez.1_Silent_p.Q56Q|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Silent_p.Q35Q|TET2_uc003hxi.1_Silent_p.Q35Q	p.Q35Q	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	3	491	+		Myeloproliferative disorder(5;0.0393)	35					B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Silent	SNP	ENST00000540549.1	37	c.105G>A	CCDS47120.1																																																																																				0.463	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2		NM_017628		15	43	0	0	0	0.020292	0	15	43		
TIGD4	201798	broad.mit.edu	37	4	153690793	153690793	+	Missense_Mutation	SNP	T	T	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr4:153690793T>C	ENST00000304337.2	-	2	2184	c.1364A>G	c.(1363-1365)gAt>gGt	p.D455G		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	455						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					ATCCTCTTCATCAGAAGTGTA	0.398																																						uc003imy.2		NaN																	0				ovary(1)	1						c.(1363-1365)GAT>GGT		tigger transposable element derived 4							104.0	88.0	94.0					4																	153690793		2203	4300	6503	SO:0001583	missense	201798				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding	g.chr4:153690793T>C	AK058054	CCDS34079.1	4q31.23	2008-02-05							18335	protein-coding gene	gene with protein product							Standard	NM_145720		Approved		uc003imy.3	Q8IY51		ENST00000304337.2:c.1364A>G	4.37:g.153690793T>C	ENSP00000355162:p.Asp455Gly						p.D455G	NM_145720	NP_663772	Q8IY51	TIGD4_HUMAN			2	2146	-	all_hematologic(180;0.093)		455					Q96LP5	Missense_Mutation	SNP	ENST00000304337.2	37	c.1364A>G	CCDS34079.1	.	.	.	.	.	.	.	.	.	.	T	10.93	1.490739	0.26686	.	.	ENSG00000169989	ENST00000304337	T	0.17213	2.29	6.17	6.17	0.99709	Centromere protein Cenp-B, dimerisation domain (1);	0.000000	0.53938	D	0.000059	T	0.11367	0.0277	L	0.29908	0.895	0.37253	D	0.906634	B	0.12630	0.006	B	0.09377	0.004	T	0.27502	-1.0072	10	0.20046	T	0.44	-28.2398	7.21	0.25929	0.1316:0.0702:0.0:0.7982	.	455	Q8IY51	TIGD4_HUMAN	G	455	ENSP00000355162:D455G	ENSP00000355162:D455G	D	-	2	0	TIGD4	153910243	1.000000	0.71417	0.998000	0.56505	0.920000	0.55202	2.754000	0.47532	2.371000	0.80710	0.533000	0.62120	GAT		0.398	TIGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365028.1		NM_145720		19	52	0	0	0	0.007413	0	19	52		
WDR17	116966	broad.mit.edu	37	4	177058703	177058703	+	Nonsense_Mutation	SNP	C	C	T	rs201170268		TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr4:177058703C>T	ENST00000280190.4	+	10	1528	c.1372C>T	c.(1372-1374)Cga>Tga	p.R458*	WDR17_ENST00000508596.1_Nonsense_Mutation_p.R434*|WDR17_ENST00000393643.2_Nonsense_Mutation_p.R434*|WDR17_ENST00000507824.2_Nonsense_Mutation_p.R441*			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	458										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GGGAACTTCCCGAAATGGTGC	0.279													C|||	1	0.000199681	0.0	0.0	5008	,	,		11499	0.001		0.0	False		,,,				2504	0.0					uc003iuj.2		NaN																	0				ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6						c.(1372-1374)CGA>TGA		WD repeat domain 17 isoform 1							77.0	81.0	80.0					4																	177058703		2202	4297	6499	SO:0001587	stop_gained	116966							g.chr4:177058703C>T	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.1372C>T	4.37:g.177058703C>T	ENSP00000280190:p.Arg458*					WDR17_uc003iuk.2_Nonsense_Mutation_p.R434*|WDR17_uc003ium.3_Nonsense_Mutation_p.R434*|WDR17_uc003iul.1_Intron	p.R458*	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	10	1528	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	458			WD 7.		E7EQX0|Q0QD35	Nonsense_Mutation	SNP	ENST00000280190.4	37	c.1372C>T	CCDS3825.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	37	6.428779	0.97559	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	.	.	.	5.08	3.07	0.35406	.	0.216830	0.36268	N	0.002682	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.5877	12.4925	0.55907	0.6798:0.3202:0.0:0.0	.	.	.	.	X	434;434;458;441	.	ENSP00000280190:R458X	R	+	1	2	WDR17	177295697	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	1.497000	0.35649	1.115000	0.41800	0.655000	0.94253	CGA		0.279	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2				13	42	0	0	0	0.006122	0	13	42		
NEIL3	55247	broad.mit.edu	37	4	178256885	178256885	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr4:178256885G>C	ENST00000264596.3	+	3	440	c.322G>C	c.(322-324)Gag>Cag	p.E108Q		NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	108					base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		TAATCCACTTGAGTATAAATA	0.328								Base excision repair (BER), DNA glycosylases																														uc003iut.2		NaN																	0				lung(2)|ovary(1)|central_nervous_system(1)	4						c.(322-324)GAG>CAG	BER_DNA_glycosylases	nei endonuclease VIII-like 3							59.0	66.0	64.0					4																	178256885		2199	4300	6499	SO:0001583	missense	55247				base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding	g.chr4:178256885G>C	AB079071	CCDS3828.1	4q34	2014-02-18			ENSG00000109674	ENSG00000109674			24573	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 3"""	608934				12713815, 12509226	Standard	NM_018248		Approved	FLJ10858, hFPG2, FPG2, hNEI3, ZGRF3	uc003iut.2	Q8TAT5	OTTHUMG00000160722	ENST00000264596.3:c.322G>C	4.37:g.178256885G>C	ENSP00000264596:p.Glu108Gln					NEIL3_uc010irs.2_Missense_Mutation_p.E11Q	p.E108Q	NM_018248	NP_060718	Q8TAT5	NEIL3_HUMAN		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)	3	439	+		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)	108					Q2PPJ3|Q8NG51|Q9NV95	Missense_Mutation	SNP	ENST00000264596.3	37	c.322G>C	CCDS3828.1	.	.	.	.	.	.	.	.	.	.	G	4.803	0.149209	0.09185	.	.	ENSG00000109674	ENST00000264596	T	0.30981	1.51	5.14	-1.28	0.09318	DNA glycosylase/AP lyase, catalytic domain (2);	0.715427	0.14732	N	0.301682	T	0.22820	0.0551	L	0.54323	1.7	0.09310	N	1	B	0.32302	0.363	B	0.29785	0.107	T	0.15122	-1.0448	10	0.29301	T	0.29	0.0454	7.4599	0.27289	0.3621:0.1128:0.525:0.0	.	108	Q8TAT5	NEIL3_HUMAN	Q	108	ENSP00000264596:E108Q	ENSP00000264596:E108Q	E	+	1	0	NEIL3	178493879	0.001000	0.12720	0.002000	0.10522	0.677000	0.39632	0.239000	0.18023	-0.166000	0.10890	0.561000	0.74099	GAG		0.328	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361914.1		NM_018248		28	51	0	0	0	0.00632	0	28	51		
TENM3	55714	broad.mit.edu	37	4	183603124	183603124	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr4:183603124C>T	ENST00000511685.1	+	11	2115	c.1992C>T	c.(1990-1992)tcC>tcT	p.S664S	TENM3_ENST00000406950.2_Silent_p.S664S|TENM3_ENST00000502950.1_3'UTR			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	664	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)										AAAGTGGCTCCTGCACGTGTG	0.488																																						uc003ivd.1		NaN																	0					0						c.(1990-1992)TCC>TCT		odz, odd Oz/ten-m homolog 3							89.0	86.0	87.0					4																	183603124		1984	4149	6133	SO:0001819	synonymous_variant	55714				signal transduction	integral to membrane		g.chr4:183603124C>T	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.1992C>T	4.37:g.183603124C>T						ODZ3_uc003ive.1_Silent_p.S70S	p.S664S	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)	10	2029	+		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)	664			EGF-like 5.|Extracellular (Potential).		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	ENST00000511685.1	37	c.1992C>T	CCDS47165.1																																																																																				0.488	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1				18	49	0	0	0	0.007413	0	18	49		
DNAH5	1767	broad.mit.edu	37	5	13885116	13885116	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr5:13885116G>A	ENST00000265104.4	-	19	3069	c.2965C>T	c.(2965-2967)Cac>Tac	p.H989Y	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	989	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTAATTGTGTGAGAGGAATGA	0.448									Kartagener syndrome																													uc003jfd.2		NaN																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(2965-2967)CAC>TAC		dynein, axonemal, heavy chain 5							112.0	106.0	108.0					5																	13885116		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13885116G>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.2965C>T	5.37:g.13885116G>A	ENSP00000265104:p.His989Tyr						p.H989Y	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			19	3007	-	Lung NSC(4;0.00476)		989			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.2965C>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	8.554	0.876156	0.17395	.	.	ENSG00000039139	ENST00000265104	T	0.22743	1.94	5.84	2.54	0.30619	.	0.282904	0.39544	N	0.001338	T	0.09774	0.0240	N	0.22421	0.69	0.18873	N	0.999987	B	0.02656	0.0	B	0.01281	0.0	T	0.40308	-0.9570	10	0.02654	T	1	.	6.2979	0.21097	0.1848:0.0:0.4648:0.3504	.	989	Q8TE73	DYH5_HUMAN	Y	989	ENSP00000265104:H989Y	ENSP00000265104:H989Y	H	-	1	0	DNAH5	13938116	0.989000	0.36119	0.016000	0.15963	0.440000	0.31957	1.942000	0.40243	0.278000	0.22164	0.655000	0.94253	CAC		0.448	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2		NM_001369		31	132	0	0	0	0.008361	0	31	132		
NPR3	4883	broad.mit.edu	37	5	32712404	32712404	+	Silent	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr5:32712404C>G	ENST00000265074.8	+	1	865	c.522C>G	c.(520-522)ctC>ctG	p.L174L	NPR3_ENST00000415167.2_Silent_p.L174L|NPR3_ENST00000434067.2_Intron|NPR3_ENST00000415685.2_Intron	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	174					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	ACTCGCACCTCACGCGCGTGG	0.682																																						uc003jhv.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(520-522)CTC>CTG		natriuretic peptide receptor C/guanylate cyclase	Nesiritide(DB04899)						39.0	45.0	43.0					5																	32712404		2069	4188	6257	SO:0001819	synonymous_variant	4883				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	g.chr5:32712404C>G		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.522C>G	5.37:g.32712404C>G						NPR3_uc010iuo.2_Intron|NPR3_uc011cnz.1_Intron|NPR3_uc003jhu.2_Silent_p.L174L	p.L174L	NM_000908	NP_000899	P17342	ANPRC_HUMAN			1	740	+			174			Extracellular (Potential).		A2RRD1|B4DT84|E7EPG9	Silent	SNP	ENST00000265074.8	37	c.522C>G	CCDS56357.1																																																																																				0.682	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3		NM_000908		10	112	0	0	0	0.008291	0	10	112		
IL7R	3575	broad.mit.edu	37	5	35867471	35867471	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr5:35867471G>C	ENST00000303115.3	+	3	414	c.285G>C	c.(283-285)gaG>gaC	p.E95D	IL7R_ENST00000511031.1_3'UTR|IL7R_ENST00000343305.4_Missense_Mutation_p.E95D|IL7R_ENST00000511982.1_Missense_Mutation_p.E95D|IL7R_ENST00000506850.1_Missense_Mutation_p.E95D	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	95					B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			ATTTCATCGAGACAAAGAAAT	0.383			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency																															uc003jjs.2		NaN		Dom	yes		5	5p13	146661		interleukin 7 receptor	yes		L					0				ovary(3)|breast(1)|skin(1)	5						c.(283-285)GAG>GAC		interleukin 7 receptor precursor							90.0	93.0	92.0					5																	35867471		2203	4300	6503	SO:0001583	missense	3575				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	g.chr5:35867471G>C	M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.285G>C	5.37:g.35867471G>C	ENSP00000306157:p.Glu95Asp					IL7R_uc011coo.1_Missense_Mutation_p.E95D|IL7R_uc011cop.1_RNA	p.E95D	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)		3	374	+	all_lung(31;0.00015)		95			Extracellular (Potential).		B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Missense_Mutation	SNP	ENST00000303115.3	37	c.285G>C	CCDS3911.1	.	.	.	.	.	.	.	.	.	.	G	10.74	1.434829	0.25813	.	.	ENSG00000168685	ENST00000303115;ENST00000343305;ENST00000506850;ENST00000511982	T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99	5.81	3.81	0.43845	.	0.846138	0.11189	N	0.590164	T	0.51126	0.1656	N	0.08118	0	0.26427	N	0.976003	B;B	0.14805	0.004;0.011	B;B	0.06405	0.002;0.002	T	0.35968	-0.9767	10	0.25106	T	0.35	-17.7369	5.9323	0.19146	0.2556:0.0:0.7444:0.0	.	95;95	D6RGV2;P16871	.;IL7RA_HUMAN	D	95	ENSP00000306157:E95D;ENSP00000345819:E95D;ENSP00000421207:E95D;ENSP00000425309:E95D	ENSP00000306157:E95D	E	+	3	2	IL7R	35903228	0.759000	0.28416	0.917000	0.36280	0.042000	0.13812	0.503000	0.22610	1.474000	0.48178	-0.143000	0.13931	GAG		0.383	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2				26	216	0	0	0	0.024334	0	26	216		
OXCT1	5019	broad.mit.edu	37	5	41840601	41840601	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr5:41840601C>T	ENST00000196371.5	-	7	844	c.684G>A	c.(682-684)agG>agA	p.R228R	OXCT1_ENST00000509987.1_Silent_p.R42R	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	228					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular response to acid chemical (GO:0071229)|cellular response to glucose stimulus (GO:0071333)|heart development (GO:0007507)|ketone body catabolic process (GO:0046952)|ketone catabolic process (GO:0042182)|positive regulation of insulin secretion (GO:0032024)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hormone (GO:0009725)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-oxoacid CoA-transferase activity (GO:0008260)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	AGTTGAAATTCCTTGCACTTT	0.373																																						uc003jmn.2		NaN																	0				ovary(2)|large_intestine(1)	3						c.(682-684)AGG>AGA		3-oxoacid CoA transferase 1 precursor	Succinic acid(DB00139)						116.0	124.0	122.0					5																	41840601		2203	4300	6503	SO:0001819	synonymous_variant	5019				cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity	g.chr5:41840601C>T	U62961	CCDS3937.1	5p13	2008-02-05		2004-05-12	ENSG00000083720	ENSG00000083720			8527	protein-coding gene	gene with protein product		601424	"""3-oxoacid CoA transferase"""	OXCT		8751852	Standard	NM_000436		Approved	SCOT	uc003jmn.3	P55809	OTTHUMG00000094783	ENST00000196371.5:c.684G>A	5.37:g.41840601C>T							p.R228R	NM_000436	NP_000427	P55809	SCOT1_HUMAN			7	1015	-			228					B2R5V2|B7Z528	Silent	SNP	ENST00000196371.5	37	c.684G>A	CCDS3937.1																																																																																				0.373	OXCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211594.2		NM_000436		34	177	0	0	0	0.025465	0	34	177		
CENPK	64105	broad.mit.edu	37	5	64814433	64814433	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr5:64814433G>A	ENST00000396679.1	-	11	893	c.679C>T	c.(679-681)Cca>Tca	p.P227S	CENPK_ENST00000514814.1_Missense_Mutation_p.P227S|CENPK_ENST00000506282.2_5'UTR|CENPK_ENST00000508421.1_Missense_Mutation_p.P197S|CENPK_ENST00000510693.1_Missense_Mutation_p.P164S|CENPK_ENST00000242872.3_Missense_Mutation_p.P227S	NM_022145.4	NP_071428.2	Q9BS16	CENPK_HUMAN	centromere protein K	227					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)	10		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00466)		GGATCATGTGGAACATCAAAT	0.333																																						uc003jts.2		NaN																	0					0						c.(679-681)CCA>TCA		SoxLZ/Sox6 leucine zipper binding protein							70.0	69.0	69.0					5																	64814433		2203	4300	6503	SO:0001583	missense	64105				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm		g.chr5:64814433G>A	BC008504	CCDS3984.1	5q12.3	2013-11-05			ENSG00000123219	ENSG00000123219			29479	protein-coding gene	gene with protein product		611502				8950979	Standard	NM_022145		Approved	FKSG14, SOLT, CENP-K	uc003jtu.3	Q9BS16	OTTHUMG00000131227	ENST00000396679.1:c.679C>T	5.37:g.64814433G>A	ENSP00000379911:p.Pro227Ser					CENPK_uc003jtt.2_Missense_Mutation_p.P197S|CENPK_uc003jtu.2_Missense_Mutation_p.P227S	p.P227S	NM_022145	NP_071428	Q9BS16	CENPK_HUMAN		Lung(70;0.00466)	11	891	-		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)	227					Q9H4L0	Missense_Mutation	SNP	ENST00000396679.1	37	c.679C>T	CCDS3984.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.321622	0.81580	.	.	ENSG00000123219	ENST00000514814;ENST00000396679;ENST00000242872;ENST00000508421;ENST00000510693	.	.	.	5.77	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.77294	0.4109	M	0.70275	2.135	0.54753	D	0.999988	D	0.76494	0.999	D	0.70935	0.971	T	0.79860	-0.1625	9	0.62326	D	0.03	-4.3779	15.0075	0.71524	0.0683:0.0:0.9317:0.0	.	227	Q9BS16	CENPK_HUMAN	S	227;227;227;197;164	.	ENSP00000242872:P227S	P	-	1	0	CENPK	64850189	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.829000	0.86735	1.437000	0.47472	0.557000	0.71058	CCA		0.333	CENPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253971.2		NM_022145		13	57	0	0	0	0.016723	0	13	57		
ERBB2IP	55914	broad.mit.edu	37	5	65349677	65349677	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr5:65349677C>T	ENST00000284037.5	+	21	2920	c.2531C>T	c.(2530-2532)tCt>tTt	p.S844F	ERBB2IP_ENST00000380943.2_Missense_Mutation_p.S844F|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.S844F|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.S844F|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.S844F|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.S844F|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.S844F|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.S844F|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.S840F	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	844					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		AGTGATTGTTCTGTTGACTTA	0.393																																						uc003juk.1		NaN																	0				ovary(3)|lung(2)|central_nervous_system(2)	7						c.(2530-2532)TCT>TTT		ERBB2 interacting protein isoform 2							97.0	98.0	98.0					5																	65349677		2203	4300	6503	SO:0001583	missense	55914				basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton	g.chr5:65349677C>T		CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.2531C>T	5.37:g.65349677C>T	ENSP00000284037:p.Ser844Phe					ERBB2IP_uc003jui.1_Missense_Mutation_p.S844F|ERBB2IP_uc003juj.1_Missense_Mutation_p.S844F|ERBB2IP_uc011cqx.1_Missense_Mutation_p.S844F|ERBB2IP_uc011cqy.1_Missense_Mutation_p.S844F|ERBB2IP_uc011cqz.1_Intron|ERBB2IP_uc010iwx.1_Missense_Mutation_p.S840F|ERBB2IP_uc003jul.1_Missense_Mutation_p.S840F	p.S844F	NM_018695	NP_061165	Q96RT1	LAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)	21	2839	+		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)	844					A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	ENST00000284037.5	37	c.2531C>T	CCDS58953.1	.	.	.	.	.	.	.	.	.	.	C	1.451	-0.564984	0.03939	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T	0.41400	1.21;1.19;1.19;1.39;1.0;1.27;1.19;1.23;1.0	5.69	4.82	0.62117	.	0.318320	0.37906	N	0.001884	T	0.35451	0.0932	N	0.22421	0.69	0.21220	N	0.999753	B;B;B;B;B;B;B	0.28998	0.114;0.07;0.07;0.23;0.097;0.114;0.191	B;B;B;B;B;B;B	0.36030	0.203;0.1;0.1;0.08;0.049;0.203;0.216	T	0.23762	-1.0179	10	0.27785	T	0.31	.	16.8205	0.85744	0.0:0.8713:0.1287:0.0	.	844;844;844;840;844;844;844	Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;LAP2_HUMAN;.;.	F	844;844;844;844;844;844;840;844;844	ENSP00000284037:S844F;ENSP00000370330:S844F;ENSP00000370326:S844F;ENSP00000370323:S844F;ENSP00000370322:S844F;ENSP00000370325:S844F;ENSP00000422766:S840F;ENSP00000426632:S844F;ENSP00000422015:S844F	ENSP00000284037:S844F	S	+	2	0	ERBB2IP	65385433	1.000000	0.71417	0.026000	0.17262	0.006000	0.05464	4.457000	0.60088	1.394000	0.46624	-0.257000	0.10917	TCT		0.393	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1		NM_018695		15	36	0	0	0	0.020292	0	15	36		
ERBB2IP	55914	broad.mit.edu	37	5	65349994	65349994	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr5:65349994C>G	ENST00000284037.5	+	21	3237	c.2848C>G	c.(2848-2850)Cat>Gat	p.H950D	ERBB2IP_ENST00000380943.2_Missense_Mutation_p.H950D|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.H950D|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.H950D|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.H950D|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.H950D|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.H950D|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.H950D|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.H946D	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	950					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		TGATTCAAATCATAATCCCGA	0.383																																						uc003juk.1		NaN																	0				ovary(3)|lung(2)|central_nervous_system(2)	7						c.(2848-2850)CAT>GAT		ERBB2 interacting protein isoform 2							128.0	134.0	132.0					5																	65349994		2203	4300	6503	SO:0001583	missense	55914				basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton	g.chr5:65349994C>G		CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.2848C>G	5.37:g.65349994C>G	ENSP00000284037:p.His950Asp					ERBB2IP_uc003jui.1_Missense_Mutation_p.H950D|ERBB2IP_uc003juj.1_Missense_Mutation_p.H950D|ERBB2IP_uc011cqx.1_Missense_Mutation_p.H950D|ERBB2IP_uc011cqy.1_Missense_Mutation_p.H950D|ERBB2IP_uc011cqz.1_Intron|ERBB2IP_uc010iwx.1_Missense_Mutation_p.H946D|ERBB2IP_uc003jul.1_Missense_Mutation_p.H946D	p.H950D	NM_018695	NP_061165	Q96RT1	LAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)	21	3156	+		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)	950					A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	ENST00000284037.5	37	c.2848C>G	CCDS58953.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.361255	0.61403	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T	0.40756	1.22;1.21;1.22;1.41;1.02;1.29;1.21;1.24;1.02	6.08	5.22	0.72569	.	0.047041	0.85682	D	0.000000	T	0.57080	0.2029	L	0.47190	1.495	0.49687	D	0.999812	D;P;P;D;B;D;D	0.64830	0.99;0.944;0.902;0.983;0.052;0.981;0.994	P;P;P;D;B;P;D	0.76575	0.881;0.663;0.563;0.972;0.057;0.747;0.988	T	0.53493	-0.8431	10	0.31617	T	0.26	.	15.6871	0.77421	0.0:0.9344:0.0:0.0656	.	950;950;950;946;950;950;950	Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;LAP2_HUMAN;.;.	D	950;950;950;950;950;950;946;950;950	ENSP00000284037:H950D;ENSP00000370330:H950D;ENSP00000370326:H950D;ENSP00000370323:H950D;ENSP00000370322:H950D;ENSP00000370325:H950D;ENSP00000422766:H946D;ENSP00000426632:H950D;ENSP00000422015:H950D	ENSP00000284037:H950D	H	+	1	0	ERBB2IP	65385750	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.098000	0.41757	1.586000	0.49944	0.655000	0.94253	CAT		0.383	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1		NM_018695		13	63	0	0	0	0.020292	0	13	63		
HSD17B4	3295	broad.mit.edu	37	5	118788291	118788291	+	Missense_Mutation	SNP	C	C	G	rs143278360		TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr5:118788291C>G	ENST00000256216.6	+	1	154	c.21C>G	c.(19-21)ttC>ttG	p.F7L	HSD17B4_ENST00000515320.1_Missense_Mutation_p.F7L|HSD17B4_ENST00000504811.1_5'UTR|HSD17B4_ENST00000510025.1_5'UTR|HSD17B4_ENST00000414835.2_5'Flank	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	7	(3R)-hydroxyacyl-CoA dehydrogenase.				alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		CGCTGAGGTTCGACGGGCGGG	0.667																																					Colon(35;490 801 34689 41394 43344)	uc003ksj.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(19-21)TTC>TTG		hydroxysteroid (17-beta) dehydrogenase 4	NADH(DB00157)						87.0	78.0	81.0					5																	118788291		2202	4300	6502	SO:0001583	missense	3295				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity	g.chr5:118788291C>G		CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5213	protein-coding gene	gene with protein product	"""17beta-estradiol dehydrogenase type IV"", ""peroxisomal multifunctional protein 2"", ""17-beta-HSD IV"", ""17-beta-hydroxysteroid dehydrogenase 4"", ""D-bifunctional protein, peroxisomal"", ""D-3-hydroxyacyl-CoA dehydratase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase"", ""beta-keto-reductase"", ""beta-hydroxyacyl dehydrogenase"", ""short chain dehydrogenase/reductase family 8C, member 1"""	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.21C>G	5.37:g.118788291C>G	ENSP00000256216:p.Phe7Leu					HSD17B4_uc011cwg.1_5'UTR|HSD17B4_uc011cwh.1_Missense_Mutation_p.F7L|HSD17B4_uc011cwi.1_5'UTR|HSD17B4_uc003ksk.3_5'UTR	p.F7L	NM_000414	NP_000405	P51659	DHB4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	1	144	+		all_cancers(142;0.0206)|Prostate(80;0.0322)	7			(3R)-hydroxyacyl-CoA dehydrogenase.		B4DNV1|B4DVS5|E9PB82|F5HE57	Missense_Mutation	SNP	ENST00000256216.6	37	c.21C>G	CCDS4126.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.370072	0.82573	.	.	ENSG00000133835	ENST00000256216;ENST00000515320	D;D	0.86366	-2.11;-2.11	4.96	4.1	0.47936	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.81336	0.4801	N	0.02120	-0.675	0.80722	D	1	P;D	0.89917	0.896;1.0	P;D	0.87578	0.52;0.998	T	0.82232	-0.0559	10	0.41790	T	0.15	.	9.1093	0.36718	0.0:0.9012:0.0:0.0988	.	7;7	E9PB82;P51659	.;DHB4_HUMAN	L	7	ENSP00000256216:F7L;ENSP00000424613:F7L	ENSP00000256216:F7L	F	+	3	2	HSD17B4	118816190	0.999000	0.42202	1.000000	0.80357	0.657000	0.38888	0.289000	0.18957	1.318000	0.45170	0.491000	0.48974	TTC		0.667	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250863.3		NM_000414		15	42	0	0	0	0.006122	0	15	42		
PCDHA7	56141	broad.mit.edu	37	5	140215764	140215764	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr5:140215764C>T	ENST00000525929.1	+	1	1796	c.1796C>T	c.(1795-1797)gCt>gTt	p.A599V	PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A599V	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	599	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGTTGACGCTGACTCAGGC	0.657																																					NSCLC(160;258 2013 5070 22440 28951)	uc003lhq.2		NaN																	0				ovary(2)|skin(2)	4						c.(1795-1797)GCT>GTT		protocadherin alpha 7 isoform 1 precursor							146.0	137.0	140.0					5																	140215764		2203	4299	6502	SO:0001583	missense	56141				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140215764C>T	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1796C>T	5.37:g.140215764C>T	ENSP00000436426:p.Ala599Val					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_uc011dac.1_Missense_Mutation_p.A599V	p.A599V	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1796	+			599			Cadherin 6.|Extracellular (Potential).		O75282	Missense_Mutation	SNP	ENST00000525929.1	37	c.1796C>T	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.441267	0.43326	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.55413	0.52;0.52	3.67	2.76	0.32466	Cadherin (4);Cadherin-like (1);	0.679773	0.11017	U	0.608804	T	0.64080	0.2566	M	0.87269	2.87	0.24546	N	0.994049	B;P	0.37276	0.323;0.589	P;B	0.46172	0.506;0.367	T	0.58434	-0.7637	10	0.66056	D	0.02	.	6.3234	0.21231	0.1915:0.7127:0.0:0.0958	.	599;599	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	V	599	ENSP00000436426:A599V;ENSP00000367365:A599V	ENSP00000367365:A599V	A	+	2	0	PCDHA7	140195948	0.968000	0.33430	0.906000	0.35671	0.200000	0.23975	2.679000	0.46909	0.801000	0.34066	0.462000	0.41574	GCT		0.657	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2		NM_018910		21	79	0	0	0	0.010504	0	21	79		
DCTN4	51164	broad.mit.edu	37	5	150097924	150097924	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr5:150097924G>C	ENST00000447998.2	-	11	1100	c.985C>G	c.(985-987)Ctt>Gtt	p.L329V	DCTN4_ENST00000424236.1_Missense_Mutation_p.L272V|DCTN4_ENST00000446090.2_Missense_Mutation_p.L336V	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62)	329					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGATTTGTAAGAGTCAGGAGG	0.468																																						uc003lsv.2		NaN																	0				central_nervous_system(1)	1						c.(985-987)CTT>GTT		dynactin 4 (p62) isoform b							110.0	96.0	101.0					5																	150097924		2203	4300	6503	SO:0001583	missense	51164					centrosome|nucleus	protein N-terminus binding	g.chr5:150097924G>C	AF195120	CCDS4310.1, CCDS47310.1, CCDS47311.1	5q31-q32	2008-05-23			ENSG00000132912	ENSG00000132912			15518	protein-coding gene	gene with protein product		614758				10843801, 16554302	Standard	NM_016221		Approved		uc010jhi.3	Q9UJW0	OTTHUMG00000130079	ENST00000447998.2:c.985C>G	5.37:g.150097924G>C	ENSP00000416968:p.Leu329Val					DCTN4_uc003lsu.2_Missense_Mutation_p.L272V|DCTN4_uc010jhi.2_Missense_Mutation_p.L336V	p.L329V	NM_016221	NP_057305	Q9UJW0	DCTN4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		11	1087	-		Medulloblastoma(196;0.167)	329					B3KWW0|D3DQH0|E5RGT5|Q8TAN8	Missense_Mutation	SNP	ENST00000447998.2	37	c.985C>G	CCDS4310.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663835	0.47572	.	.	ENSG00000132912	ENST00000447998;ENST00000424236;ENST00000446090	T;T;T	0.25579	1.79;1.79;1.79	5.77	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.42675	0.1213	L	0.54323	1.7	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.79108	0.986;0.992	T	0.17806	-1.0357	10	0.32370	T	0.25	-6.7162	11.1383	0.48388	0.1411:0.0:0.8589:0.0	.	336;329	Q9UJW0-3;Q9UJW0	.;DCTN4_HUMAN	V	329;272;336	ENSP00000416968:L329V;ENSP00000411251:L272V;ENSP00000414906:L336V	ENSP00000411251:L272V	L	-	1	0	DCTN4	150078117	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	3.793000	0.55484	1.571000	0.49722	0.655000	0.94253	CTT		0.468	DCTN4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252372.1				26	19	0	0	0	0.027356	0	26	19		
TENM2	57451	broad.mit.edu	37	5	167517748	167517748	+	Missense_Mutation	SNP	T	T	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr5:167517748T>A	ENST00000518659.1	+	8	1724	c.1685T>A	c.(1684-1686)aTg>aAg	p.M562K	CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000545108.1_Missense_Mutation_p.M562K|TENM2_ENST00000520394.1_Missense_Mutation_p.M330K|TENM2_ENST00000519204.1_Missense_Mutation_p.M441K|TENM2_ENST00000403607.2_Missense_Mutation_p.M395K	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	562					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										GACAAAGAGATGGTTTCCTTC	0.483																																						uc010jjd.2		NaN																	0				ovary(6)|central_nervous_system(4)	10						c.(1684-1686)ATG>AAG		odz, odd Oz/ten-m homolog 2							263.0	260.0	261.0					5																	167517748		2053	4183	6236	SO:0001583	missense	57451							g.chr5:167517748T>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.1685T>A	5.37:g.167517748T>A	ENSP00000429430:p.Met562Lys					ODZ2_uc003lzq.2_Missense_Mutation_p.M441K|ODZ2_uc003lzr.3_Missense_Mutation_p.M330K|uc003lzs.1_Intron	p.M562K	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	8	1685	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.1685T>A		.	.	.	.	.	.	.	.	.	.	T	8.109	0.778467	0.16120	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	T;T;T;T;T	0.20069	2.1;2.1;2.1;2.1;2.1	5.96	3.62	0.41486	.	0.771600	0.13271	N	0.400502	T	0.07324	0.0185	N	0.02539	-0.55	0.29753	N	0.836163	B;B;B	0.10296	0.0;0.001;0.003	B;B;B	0.08055	0.0;0.003;0.002	T	0.26815	-1.0092	10	0.06099	T	0.92	.	9.7079	0.40227	0.0:0.1384:0.0:0.8616	.	562;330;441	Q9NT68;F8VNQ3;G3V106	TEN2_HUMAN;.;.	K	562;562;441;330;395	ENSP00000429430:M562K;ENSP00000438635:M562K;ENSP00000428964:M441K;ENSP00000427874:M330K;ENSP00000384905:M395K	ENSP00000384905:M395K	M	+	2	0	ODZ2	167450326	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.858000	0.48356	1.085000	0.41206	0.533000	0.62120	ATG		0.483	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1		NM_001122679		41	147	0	0	0	0.01441	0	41	147		
TENM2	57451	broad.mit.edu	37	5	167631486	167631486	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr5:167631486C>G	ENST00000518659.1	+	19	3723	c.3684C>G	c.(3682-3684)tgC>tgG	p.C1228W	TENM2_ENST00000545108.1_Missense_Mutation_p.C1228W|TENM2_ENST00000520394.1_Missense_Mutation_p.C996W|TENM2_ENST00000519204.1_Missense_Mutation_p.C1107W|TENM2_ENST00000403607.2_Missense_Mutation_p.C1052W	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1228					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										GTCCCAGCTGCAACGGCCTTG	0.577																																						uc010jjd.2		NaN																	0				ovary(6)|central_nervous_system(4)	10						c.(3655-3657)TGC>TGG		odz, odd Oz/ten-m homolog 2							74.0	76.0	75.0					5																	167631486		2014	4182	6196	SO:0001583	missense	57451							g.chr5:167631486C>G	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.3684C>G	5.37:g.167631486C>G	ENSP00000429430:p.Cys1228Trp					ODZ2_uc003lzr.3_Missense_Mutation_p.C996W|ODZ2_uc003lzt.3_Missense_Mutation_p.C592W|ODZ2_uc010jje.2_Missense_Mutation_p.C490W	p.C1219W	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	19	3657	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.3657C>G		.	.	.	.	.	.	.	.	.	.	c	17.09	3.301606	0.60195	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.91686	-2.41;-2.43;-2.53;-2.87;-2.89	4.9	4.01	0.46588	.	0.000000	0.85682	D	0.000000	D	0.96361	0.8813	M	0.91354	3.2	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.998;0.995;0.994	D	0.96226	0.9164	10	0.87932	D	0	.	10.87	0.46877	0.0:0.845:0.0:0.155	.	1228;1228;996	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	W	1228;1228;1107;996;1052	ENSP00000429430:C1228W;ENSP00000438635:C1228W;ENSP00000428964:C1107W;ENSP00000427874:C996W;ENSP00000384905:C1052W	ENSP00000384905:C1052W	C	+	3	2	ODZ2	167564064	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.168000	0.31859	1.019000	0.39547	0.550000	0.68814	TGC		0.577	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1		NM_001122679		11	50	0	0	0	0.013537	0	11	50		
DOCK2	1794	broad.mit.edu	37	5	169122827	169122827	+	Silent	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr5:169122827C>G	ENST00000256935.8	+	10	944	c.864C>G	c.(862-864)ctC>ctG	p.L288L		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	288					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACAAAGACCTCAACAGGGATA	0.433																																						uc003maf.2		NaN																	0				ovary(5)|pancreas(2)	7						c.(862-864)CTC>CTG		dedicator of cytokinesis 2							91.0	98.0	95.0					5																	169122827		2203	4300	6503	SO:0001819	synonymous_variant	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169122827C>G	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.864C>G	5.37:g.169122827C>G						DOCK2_uc011der.1_RNA	p.L288L	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		10	944	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	288					Q2M3I0|Q96AK7	Silent	SNP	ENST00000256935.8	37	c.864C>G	CCDS4371.1																																																																																				0.433	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2		NM_004946		18	83	0	0	0	0.008871	0	18	83		
PRPF4B	8899	broad.mit.edu	37	6	4056655	4056655	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:4056655G>C	ENST00000337659.6	+	12	2667	c.2567G>C	c.(2566-2568)cGt>cCt	p.R856P	PRPF4B_ENST00000538861.1_Missense_Mutation_p.R842P	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	856	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				AGATTTTATCGTGCTCCTGAA	0.383																																						uc003mvv.2		NaN																	0				breast(5)	5						c.(2566-2568)CGT>CCT		serine/threonine-protein kinase PRP4K							164.0	161.0	162.0					6																	4056655		2203	4300	6503	SO:0001583	missense	8899					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:4056655G>C	U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"""PRP4 pre-mRNA processing factor 4 homolog B (yeast)"""			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.2567G>C	6.37:g.4056655G>C	ENSP00000337194:p.Arg856Pro					PRPF4B_uc003mvw.2_RNA|C6orf146_uc010jnq.1_Intron|PRPF4B_uc011dhv.1_RNA	p.R856P	NM_003913	NP_003904	Q13523	PRP4B_HUMAN			12	2658	+	Ovarian(93;0.0925)	all_hematologic(90;0.0895)	856			Protein kinase.		A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Missense_Mutation	SNP	ENST00000337659.6	37	c.2567G>C	CCDS4488.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.578553	0.86645	.	.	ENSG00000112739	ENST00000337659;ENST00000538861	T;T	0.23147	1.92;1.92	6.07	6.07	0.98685	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	T	0.69433	0.3110	H	0.99325	4.515	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.82337	-0.0507	10	0.87932	D	0	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	856	Q13523	PRP4B_HUMAN	P	856;842	ENSP00000337194:R856P;ENSP00000439331:R842P	ENSP00000337194:R856P	R	+	2	0	PRPF4B	4001654	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.884000	0.98904	0.655000	0.94253	CGT		0.383	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314018.2				30	123	0	0	0	0.012213	0	30	123		
NEDD9	4739	broad.mit.edu	37	6	11185604	11185604	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:11185604G>A	ENST00000379446.5	-	7	2462	c.2296C>T	c.(2296-2298)Cag>Tag	p.Q766*	NEDD9_ENST00000504387.1_Nonsense_Mutation_p.Q766*|RP3-510L9.1_ENST00000500636.2_RNA	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	766					actin filament bundle assembly (GO:0051017)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|integrin-mediated signaling pathway (GO:0007229)|mitotic nuclear division (GO:0007067)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle pole (GO:0000922)				endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			GCAGTCACCTGCCGTGTCAGC	0.557																																						uc003mzv.2		NaN																	0					0						c.(2296-2298)CAG>TAG		neural precursor cell expressed, developmentally							185.0	155.0	165.0					6																	11185604		2203	4300	6503	SO:0001587	stop_gained	4739				actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding	g.chr6:11185604G>A	L43821	CCDS4520.1, CCDS34340.1, CCDS47373.1, CCDS75400.1	6p25-p24	2011-04-13			ENSG00000111859	ENSG00000111859		"""Cas scaffolding proteins"""	7733	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 2"", ""Cas-like"""	602265					Standard	NM_182966		Approved	HEF1, CAS-L, CASS2	uc003mzv.2	Q14511	OTTHUMG00000014255	ENST00000379446.5:c.2296C>T	6.37:g.11185604G>A	ENSP00000368759:p.Gln766*					NEDD9_uc010joz.2_Nonsense_Mutation_p.Q766*|NEDD9_uc003mzw.3_Nonsense_Mutation_p.Q620*	p.Q766*	NM_006403	NP_006394	Q14511	CASL_HUMAN	Epithelial(50;0.0647)|all cancers(50;0.179)		7	2463	-	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	766					A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0	Nonsense_Mutation	SNP	ENST00000379446.5	37	c.2296C>T	CCDS4520.1	.	.	.	.	.	.	.	.	.	.	G	43	9.943662	0.99302	.	.	ENSG00000111859	ENST00000379446;ENST00000504387	.	.	.	6.11	6.11	0.99139	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-27.593	20.7342	0.99715	0.0:0.0:1.0:0.0	.	.	.	.	X	766	.	ENSP00000368759:Q766X	Q	-	1	0	NEDD9	11293590	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.476000	0.97823	2.906000	0.99361	0.655000	0.94253	CAG		0.557	NEDD9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039853.2		NM_006403		30	329	0	0	0	0.012213	0	30	329		
DTNBP1	84062	broad.mit.edu	37	6	15663055	15663055	+	Missense_Mutation	SNP	A	A	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:15663055A>T	ENST00000344537.5	-	1	218	c.46T>A	c.(46-48)Ttc>Atc	p.F16I	DTNBP1_ENST00000355917.3_Missense_Mutation_p.F16I|DTNBP1_ENST00000338950.5_Missense_Mutation_p.F16I	NM_032122.4	NP_115498.2	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1	16					actin cytoskeleton reorganization (GO:0031532)|anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|blood coagulation (GO:0007596)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|neuron projection morphogenesis (GO:0048812)|platelet dense granule organization (GO:0060155)|positive regulation of gene expression (GO:0010628)|positive regulation of neurotransmitter secretion (GO:0001956)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of dopamine secretion (GO:0014059)	axon (GO:0030424)|BLOC-1 complex (GO:0031083)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|growth cone (GO:0030426)|neuron projection (GO:0043005)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)|synaptic vesicle membrane (GO:0030672)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			CCGGAGGTGAAATCCTGCTGC	0.716									Hermansky-Pudlak syndrome																													uc003nbm.2		NaN																	0					0						c.(46-48)TTC>ATC		dystrobrevin binding protein 1 isoform a							37.0	52.0	47.0					6																	15663055		2200	4298	6498	SO:0001583	missense	84062	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8	actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding	g.chr6:15663055A>T	AF394226	CCDS4534.1, CCDS4535.1, CCDS75404.1, CCDS75405.1	6p22.3	2013-09-27			ENSG00000047579	ENSG00000047579		"""Biogenesis of lysosomal organelles complex-1 subunits"""	17328	protein-coding gene	gene with protein product	"""dysbindin-1"", ""biogenesis of lysosomal organelles complex-1, subunit 8"""	607145				11316798	Standard	NM_032122		Approved	Dysbindin, My031, HPS7, DBND, BLOC1S8	uc003nbm.3	Q96EV8	OTTHUMG00000014295	ENST00000344537.5:c.46T>A	6.37:g.15663055A>T	ENSP00000341680:p.Phe16Ile					DTNBP1_uc003nbl.2_5'UTR|DTNBP1_uc003nbn.2_RNA|DTNBP1_uc003nbo.2_RNA|DTNBP1_uc003nbp.2_Missense_Mutation_p.F16I|DTNBP1_uc010jph.2_5'UTR	p.F16I	NM_032122	NP_115498	Q96EV8	DTBP1_HUMAN	Epithelial(50;0.211)		1	217	-	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	16					A8K3V3|Q5THY3|Q5THY4|Q96NV2|Q9H0U2|Q9H3J5	Missense_Mutation	SNP	ENST00000344537.5	37	c.46T>A	CCDS4534.1	.	.	.	.	.	.	.	.	.	.	A	15.20	2.763480	0.49574	.	.	ENSG00000047579	ENST00000344537;ENST00000355917;ENST00000511762;ENST00000338950;ENST00000543749	T;T;T	0.31510	1.49;1.49;1.56	3.66	1.11	0.20524	.	0.766964	0.10970	N	0.613924	T	0.09069	0.0224	L	0.47716	1.5	0.39840	D	0.973093	B;B	0.14438	0.01;0.001	B;B	0.16722	0.016;0.001	T	0.24764	-1.0151	10	0.15499	T	0.54	.	5.0723	0.14613	0.7295:0.0:0.2705:0.0	.	16;16	Q96EV8-2;Q96EV8	.;DTBP1_HUMAN	I	16	ENSP00000341680:F16I;ENSP00000348183:F16I;ENSP00000344718:F16I	ENSP00000344718:F16I	F	-	1	0	DTNBP1	15771034	1.000000	0.71417	0.999000	0.59377	0.938000	0.57974	1.313000	0.33585	0.284000	0.22305	0.254000	0.18369	TTC		0.716	DTNBP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000039933.2		NM_032122		25	166	0	0	0	0.024334	0	25	166		
HIST1H3E	8353	broad.mit.edu	37	6	26225674	26225674	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:26225674G>A	ENST00000360408.1	+	1	292	c.292G>A	c.(292-294)Gag>Aag	p.E98K		NM_003532.2	NP_003523.1	P68431	H31_HUMAN	histone cluster 1, H3e	98					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				GGAGGCCTGCGAGGCCTACTT	0.592											OREG0017240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003nhb.2		NaN																	0					0						c.(292-294)GAG>AAG		histone cluster 1, H3f							81.0	81.0	81.0					6																	26225674		2203	4300	6503	SO:0001583	missense	8353				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26225674G>A	M60746	CCDS4596.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196966	ENSG00000274750		"""Histones / Replication-dependent"""	4769	protein-coding gene	gene with protein product		602813	"""H3 histone family, member D"", ""histone 1, H3e"""	H3FD		1916825, 12408966	Standard	NM_003532		Approved	H3/d, H3.1	uc003nhc.4	P68431	OTTHUMG00000014434	ENST00000360408.1:c.292G>A	6.37:g.26225674G>A	ENSP00000353581:p.Glu98Lys		OREG0017240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	785	HIST1H3E_uc003nhc.3_Missense_Mutation_p.E98K	p.E98K	NM_021018	NP_066298	P68431	H31_HUMAN			2	652	+		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)	98					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000360408.1	37	c.292G>A	CCDS4596.1	.	.	.	.	.	.	.	.	.	.	.	18.62	3.662846	0.67700	.	.	ENSG00000196966	ENST00000360408	T	0.77489	-1.1	4.54	4.54	0.55810	.	.	.	.	.	D	0.83663	0.5303	.	.	.	0.44627	D	0.997605	.	.	.	.	.	.	D	0.85860	0.1409	6	0.87932	D	0	.	16.8198	0.85743	0.0:0.0:1.0:0.0	.	.	.	.	K	98	ENSP00000353581:E98K	ENSP00000353581:E98K	E	+	1	0	HIST1H3E	26333653	1.000000	0.71417	1.000000	0.80357	0.593000	0.36681	9.641000	0.98458	2.541000	0.85698	0.491000	0.48974	GAG		0.592	HIST1H3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040097.1		NM_003532		71	88	0	0	0	0.01441	0	71	88		
HIST1H1D	3007	broad.mit.edu	37	6	26234919	26234919	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:26234919G>C	ENST00000244534.5	-	1	297	c.243C>G	c.(241-243)atC>atG	p.I81M		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	81	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				GGCCAAGCTTGATACGGCTGT	0.542																																						uc003nhd.2		NaN																	0				skin(1)	1						c.(241-243)ATC>ATG		histone cluster 1, H1d							92.0	99.0	96.0					6																	26234919		2203	4300	6503	SO:0001583	missense	3007				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26234919G>C	M60747	CCDS4597.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000124575	ENSG00000124575		"""Histones / Replication-dependent"""	4717	protein-coding gene	gene with protein product		142210	"""H1 histone family, member 3"", ""histone 1, H1d"""	H1F3		1916825, 12408966	Standard	NM_005320		Approved	H1.3, H1d, H1s-2	uc003nhd.3	P16402	OTTHUMG00000014432	ENST00000244534.5:c.243C>G	6.37:g.26234919G>C	ENSP00000244534:p.Ile81Met						p.I81M	NM_005320	NP_005311	P16402	H13_HUMAN			1	298	-		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)	81			H15.		B2R751|Q2M2I2	Missense_Mutation	SNP	ENST00000244534.5	37	c.243C>G	CCDS4597.1	.	.	.	.	.	.	.	.	.	.	.	15.43	2.830072	0.50845	.	.	ENSG00000124575	ENST00000244534	T	0.26810	1.71	5.23	5.23	0.72850	Histone H1/H5 (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.168283	0.53938	D	0.000059	T	0.48484	0.1502	M	0.80847	2.515	0.47584	D	0.999465	D	0.69078	0.997	D	0.78314	0.991	T	0.53585	-0.8418	10	0.87932	D	0	-27.1725	18.1633	0.89717	0.0:0.0:1.0:0.0	.	81	P16402	H13_HUMAN	M	81	ENSP00000244534:I81M	ENSP00000244534:I81M	I	-	3	3	HIST1H1D	26342898	1.000000	0.71417	1.000000	0.80357	0.216000	0.24613	1.844000	0.39269	2.623000	0.88846	0.655000	0.94253	ATC		0.542	HIST1H1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040095.1		NM_005320		64	134	0	0	0	0.01441	0	64	134		
ZBED9	114821	broad.mit.edu	37	6	28540437	28540437	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:28540437C>T	ENST00000452236.2	-	4	3846	c.3229G>A	c.(3229-3231)Gaa>Aaa	p.E1077K		NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						actaagagttcatttcgtatt	0.393																																						uc003nlo.2		NaN																	0				ovary(1)	1						c.(3229-3231)GAA>AAA		SCAN domain containing 3							74.0	73.0	74.0					6																	28540437		2203	4300	6503	SO:0001583	missense	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28540437C>T																												ENST00000452236.2:c.3229G>A	6.37:g.28540437C>T	ENSP00000395259:p.Glu1077Lys						p.E1077K	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN			4	3847	-			1077						Missense_Mutation	SNP	ENST00000452236.2	37	c.3229G>A	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.004913	0.54254	.	.	ENSG00000232040	ENST00000452236	T	0.40476	1.03	2.14	2.14	0.27477	Ribonuclease H-like (1);	1.910940	0.03393	N	0.202259	T	0.50633	0.1627	M	0.78916	2.43	0.26795	N	0.969319	P	0.46578	0.88	P	0.62184	0.899	T	0.28038	-1.0056	10	0.72032	D	0.01	.	7.8439	0.29414	0.0:1.0:0.0:0.0	.	1077	Q6R2W3	SCND3_HUMAN	K	1077	ENSP00000395259:E1077K	ENSP00000395259:E1077K	E	-	1	0	SCAND3	28648416	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.852000	0.39348	1.507000	0.48752	0.561000	0.74099	GAA		0.393	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3				30	104	0	0	0	0.008361	0	30	104		
HLA-A	3105	broad.mit.edu	37	6	29913231	29913231	+	Nonstop_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:29913231G>C	ENST00000396634.1	+	10	1438	c.1097G>C	c.(1096-1098)tGa>tCa	p.*366S	HLA-A_ENST00000376802.2_Nonstop_Mutation_p.*300S|HLA-A_ENST00000376809.5_Nonstop_Mutation_p.*366S|HLA-A_ENST00000376806.5_Nonstop_Mutation_p.*372S			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	0					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.*366L(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TCTATAGTGTGAGACAGCTGC	0.448									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												uc003nol.2		NaN																	1	Nonstop extension(1)		urinary_tract(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1096-1098)TGA>TCA		major histocompatibility complex, class I, A							80.0	91.0	87.0					6																	29913231		1511	2709	4220	SO:0001578	stop_lost	3105	Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29913231G>C	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.1097G>C	6.37:g.29913231G>C	ENSP00000379873:p.*366Serext*8	Multiple Myeloma(9;0.094)				HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_5'Flank|HLA-A_uc003non.2_Nonstop_Mutation_p.*372S|HLA-A_uc003noo.2_Missense_Mutation_p.E367Q|HLA-A_uc010jrr.2_Nonstop_Mutation_p.*300S|HLA-A_uc003nom.2_Missense_Mutation_p.E244Q|HLA-A_uc011dmc.1_Nonstop_Mutation_p.*245S|HLA-A_uc011dmd.1_3'UTR	p.*366S	NM_002116	NP_002107	P30443	1A01_HUMAN			8	1097	+			366					O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Nonstop_Mutation	SNP	ENST00000396634.1	37	c.1097G>C	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	11.46	1.646366	0.29246	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000536480;ENST00000376809;ENST00000376802	.	.	.	3.17	2.27	0.28462	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.7448	0.23456	0.1405:0.0:0.8595:0.0	.	.	.	.	S	366;372;115;366;300	.	.	X	+	2	2	HLA-A	30021210	0.018000	0.18449	0.401000	0.26359	0.629000	0.37895	0.635000	0.24629	0.652000	0.30806	0.485000	0.47835	TGA		0.448	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1		NM_002116		19	65	0	0	0	0.012319	0	19	65		
DDX39B	7919	broad.mit.edu	37	6	31500659	31500659	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:31500659C>T	ENST00000396172.1	-	7	1395	c.765G>A	c.(763-765)acG>acA	p.T255T	DDX39B_ENST00000376177.2_Silent_p.T255T|DDX39B_ENST00000415382.2_Silent_p.T177T|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000458640.1_Silent_p.T255T|DDX39B_ENST00000417556.2_Silent_p.T270T|DDX39B_ENST00000462421.1_5'Flank	NM_004640.6	NP_004631.1	Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	255					ATP catabolic process (GO:0006200)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|RNA secondary structure unwinding (GO:0010501)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|transcription export complex (GO:0000346)	ATP binding (GO:0005524)|ATP-dependent protein binding (GO:0043008)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)|RNA-dependent ATPase activity (GO:0008186)|U4 snRNA binding (GO:0030621)|U6 snRNA binding (GO:0017070)	p.T255T(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GCGTCAACTTCGTCTCATCAT	0.572																																						uc003ntt.2		NaN																	1	Substitution - coding silent(1)		lung(1)		0						c.(763-765)ACG>ACA		HLA-B associated transcript 1							86.0	73.0	78.0					6																	31500659		1511	2709	4220	SO:0001819	synonymous_variant	7919				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding	g.chr6:31500659C>T	Z37166	CCDS4697.1	6p21.33	2011-02-09	2011-02-08	2011-02-08	ENSG00000198563	ENSG00000198563		"""DEAD-boxes"""	13917	protein-coding gene	gene with protein product	"""U2AF65-associated protein 56"""	142560	"""HLA-B associated transcript 1"""	BAT1		7601445, 2813433	Standard	NM_004640		Approved	D6S81E, UAP56	uc003ntu.3	Q13838	OTTHUMG00000031165	ENST00000396172.1:c.765G>A	6.37:g.31500659C>T						BAT1_uc003ntq.2_5'Flank|BAT1_uc003ntr.2_Silent_p.T62T|BAT1_uc003nts.2_Silent_p.T255T|BAT1_uc011dnn.1_Silent_p.T177T|BAT1_uc003ntu.2_Silent_p.T255T|BAT1_uc003ntv.2_Silent_p.T255T	p.T255T	NM_004640	NP_004631	Q13838	DX39B_HUMAN			7	1396	-			255					B0S8C0|O43496|Q0EFA1|Q2L6F9|Q53GL9|Q5RJ64|Q5RJ66|Q5ST94|Q5STB4|Q5STB5|Q5STB7|Q5STB8|Q5STU4|Q5STU5|Q5STU6|Q5STU8|Q71V76	Silent	SNP	ENST00000396172.1	37	c.765G>A	CCDS4697.1	.	.	.	.	.	.	.	.	.	.	C	10.16	1.273418	0.23221	.	.	ENSG00000198563	ENST00000417023	.	.	.	5.46	1.41	0.22369	.	.	.	.	.	T	0.47040	0.1424	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42310	-0.9459	4	.	.	.	-13.5185	11.5351	0.50633	0.1317:0.3283:0.54:0.0	.	.	.	.	Q	19	.	.	R	-	2	0	DDX39B	31608638	0.999000	0.42202	0.998000	0.56505	0.999000	0.98932	0.425000	0.21346	-0.027000	0.13873	0.655000	0.94253	CGA		0.572	DDX39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259083.1		NM_004640		18	51	0	0	0	0.007413	0	18	51		
DDX39B	7919	broad.mit.edu	37	6	31503186	31503186	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:31503186C>G	ENST00000396172.1	-	6	1323	c.693G>C	c.(691-693)ttG>ttC	p.L231F	SNORD117_ENST00000364915.1_RNA|DDX39B_ENST00000376177.2_Missense_Mutation_p.L231F|DDX39B_ENST00000415382.2_Missense_Mutation_p.L153F|DDX39B_ENST00000453105.2_Missense_Mutation_p.L184F|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000458640.1_Missense_Mutation_p.L231F|DDX39B_ENST00000417556.2_Missense_Mutation_p.L246F	NM_004640.6	NP_004631.1	Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	231	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|RNA secondary structure unwinding (GO:0010501)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|transcription export complex (GO:0000346)	ATP binding (GO:0005524)|ATP-dependent protein binding (GO:0043008)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)|RNA-dependent ATPase activity (GO:0008186)|U4 snRNA binding (GO:0030621)|U6 snRNA binding (GO:0017070)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						TCTCTTTGCTCAAGGTAGCAC	0.517																																						uc003ntt.2		NaN																	0					0						c.(691-693)TTG>TTC		HLA-B associated transcript 1							245.0	173.0	199.0					6																	31503186		1511	2709	4220	SO:0001583	missense	7919				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding	g.chr6:31503186C>G	Z37166	CCDS4697.1	6p21.33	2011-02-09	2011-02-08	2011-02-08	ENSG00000198563	ENSG00000198563		"""DEAD-boxes"""	13917	protein-coding gene	gene with protein product	"""U2AF65-associated protein 56"""	142560	"""HLA-B associated transcript 1"""	BAT1		7601445, 2813433	Standard	NM_004640		Approved	D6S81E, UAP56	uc003ntu.3	Q13838	OTTHUMG00000031165	ENST00000396172.1:c.693G>C	6.37:g.31503186C>G	ENSP00000379475:p.Leu231Phe					BAT1_uc003ntr.2_5'Flank|BAT1_uc003nts.2_Missense_Mutation_p.L231F|BAT1_uc011dnn.1_Missense_Mutation_p.L153F|BAT1_uc003ntu.2_Missense_Mutation_p.L231F|BAT1_uc003ntv.2_Missense_Mutation_p.L231F|BAT1_uc003ntw.2_Missense_Mutation_p.L231F|BAT1_uc003ntx.2_Missense_Mutation_p.L231F|BAT1_uc011dno.1_Missense_Mutation_p.L184F|BAT1_uc011dnp.1_Missense_Mutation_p.L153F	p.L231F	NM_004640	NP_004631	Q13838	DX39B_HUMAN			6	1324	-			231			Helicase ATP-binding.		B0S8C0|O43496|Q0EFA1|Q2L6F9|Q53GL9|Q5RJ64|Q5RJ66|Q5ST94|Q5STB4|Q5STB5|Q5STB7|Q5STB8|Q5STU4|Q5STU5|Q5STU6|Q5STU8|Q71V76	Missense_Mutation	SNP	ENST00000396172.1	37	c.693G>C	CCDS4697.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.618611	0.66787	.	.	ENSG00000198563	ENST00000376177;ENST00000458640;ENST00000396172;ENST00000417556;ENST00000415382;ENST00000431908;ENST00000427214;ENST00000453105;ENST00000428098;ENST00000419338;ENST00000456662	D;T;T;T;T;T;T;T;T;T;T	0.92805	-3.11;3.45;3.45;3.45;3.45;3.45;2.11;2.11;2.11;2.11;2.11	5.88	5.88	0.94601	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.64402	D	0.000007	D	0.90154	0.6923	N	0.17594	0.5	0.80722	D	1	P;P;B;B;D;P	0.53745	0.604;0.765;0.195;0.232;0.962;0.642	B;B;B;B;P;B	0.58928	0.325;0.33;0.07;0.098;0.848;0.288	D	0.92188	0.5757	10	0.87932	D	0	-10.2852	17.736	0.88392	0.0:1.0:0.0:0.0	.	153;184;153;251;231;231	B4DIZ8;B4DIJ6;B4DP52;Q59G92;Q13838;Q5STU3	.;.;.;.;DX39B_HUMAN;.	F	231;231;231;246;153;153;231;184;231;231;231	ENSP00000365347:L231F;ENSP00000416269:L231F;ENSP00000379475:L231F;ENSP00000412582:L246F;ENSP00000392669:L153F;ENSP00000408000:L153F;ENSP00000399371:L231F;ENSP00000400328:L184F;ENSP00000392672:L231F;ENSP00000410313:L231F;ENSP00000416350:L231F	ENSP00000365347:L231F	L	-	3	2	DDX39B	31611165	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.743000	0.26231	2.788000	0.95919	0.650000	0.86243	TTG		0.517	DDX39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259083.1		NM_004640		24	110	0	0	0	0.027356	0	24	110		
TNXB	7148	broad.mit.edu	37	6	32053791	32053791	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:32053791C>T	ENST00000375244.3	-	7	3085	c.2884G>A	c.(2884-2886)Gag>Aag	p.E962K	TNXB_ENST00000375247.2_Missense_Mutation_p.E962K			P22105	TENX_HUMAN	tenascin XB	1049	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCTCCCAGCTCCTGGGGGCGC	0.662																																						uc003nzl.2		NaN																	0					0						c.(2884-2886)GAG>AAG		tenascin XB isoform 1 precursor							20.0	23.0	22.0					6																	32053791		1225	2533	3758	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32053791C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.2884G>A	6.37:g.32053791C>T	ENSP00000364393:p.Glu962Lys						p.E962K	NM_019105	NP_061978	P22105	TENX_HUMAN			7	3086	-			1049			Fibronectin type-III 3.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.2884G>A		.	.	.	.	.	.	.	.	.	.	C	21.9	4.220794	0.79464	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.04360	3.64;3.64	3.42	3.42	0.39159	.	0.303719	0.23502	N	0.047483	T	0.01287	0.0042	L	0.27053	0.805	0.22842	N	0.998669	P	0.44521	0.837	B	0.43783	0.431	T	0.35276	-0.9795	10	0.06625	T	0.88	.	10.2559	0.43397	0.0:1.0:0.0:0.0	.	962	P22105-3	.	K	962	ENSP00000364393:E962K;ENSP00000364396:E962K	ENSP00000364393:E962K	E	-	1	0	TNXB	32161769	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	1.993000	0.40747	1.759000	0.51996	0.558000	0.71614	GAG		0.662	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2		NM_019105		13	18	0	0	0	0.013537	0	13	18		
PFDN6	10471	broad.mit.edu	37	6	33258524	33258524	+	Missense_Mutation	SNP	G	G	C	rs373320781		TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:33258524G>C	ENST00000395131.1	+	5	698	c.292G>C	c.(292-294)Gag>Cag	p.E98Q	PFDN6_ENST00000374607.1_Missense_Mutation_p.E98Q|PFDN6_ENST00000374606.5_Missense_Mutation_p.E98Q|PFDN6_ENST00000374610.2_Missense_Mutation_p.E98Q|RGL2_ENST00000437840.2_5'Flank|WDR46_ENST00000477718.1_5'Flank|WDR46_ENST00000374617.4_5'Flank|PFDN6_ENST00000463584.1_Intron			O15212	PFD6_HUMAN	prefoldin subunit 6	98					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)	prefoldin complex (GO:0016272)	chaperone binding (GO:0051087)|unfolded protein binding (GO:0051082)			kidney(1)|large_intestine(1)	2						TCGGGATCTTGAGCGGCAGTC	0.562																																						uc003odt.1		NaN																	0					0						c.(292-294)GAG>CAG		HLA class II region expressed gene KE2							44.0	41.0	42.0					6																	33258524		2200	4297	6497	SO:0001583	missense	10471				'de novo' posttranslational protein folding|chaperone-mediated protein complex assembly	prefoldin complex	chaperone binding|unfolded protein binding	g.chr6:33258524G>C	BC039033	CCDS4773.1	6p21.3	2006-02-24	2006-02-24	2006-02-24	ENSG00000204220	ENSG00000204220			4926	protein-coding gene	gene with protein product		605660	"""HLA class II region expressed gene KE2"", ""prefoldin 6"""	HKE2		9545376, 9630229	Standard	NM_001185181		Approved	KE-2, H2-KE2, PFD6	uc031sny.1	O15212	OTTHUMG00000031247	ENST00000395131.1:c.292G>C	6.37:g.33258524G>C	ENSP00000378563:p.Glu98Gln					WDR46_uc003ods.2_5'Flank|WDR46_uc011dra.1_5'Flank|WDR46_uc010juo.1_5'Flank|PFDN6_uc010jup.1_Missense_Mutation_p.E98Q	p.E98Q	NM_014260	NP_055075	O15212	PFD6_HUMAN			5	407	+			98						Missense_Mutation	SNP	ENST00000395131.1	37	c.292G>C	CCDS4773.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.287991	0.80803	.	.	ENSG00000204220	ENST00000395131;ENST00000374606;ENST00000374610;ENST00000374607	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.48	5.48	0.80851	Prefoldin beta-like (1);Prefoldin (1);	0.000000	0.85682	D	0.000000	T	0.34571	0.0902	L	0.35854	1.095	0.80722	D	1	P	0.46395	0.877	P	0.48654	0.585	T	0.02632	-1.1131	10	0.27785	T	0.31	.	14.7297	0.69372	0.0:0.0:1.0:0.0	.	98	O15212	PFD6_HUMAN	Q	98	ENSP00000378563:E98Q;ENSP00000363734:E98Q;ENSP00000363738:E98Q;ENSP00000363735:E98Q	ENSP00000363734:E98Q	E	+	1	0	PFDN6	33366502	1.000000	0.71417	0.360000	0.25837	0.598000	0.36846	5.912000	0.69948	2.852000	0.98041	0.643000	0.83706	GAG		0.562	PFDN6-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276361.1		NM_014260		8	27	0	0	0	0.00308	0	8	27		
HMGCLL1	54511	broad.mit.edu	37	6	55406532	55406532	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:55406532G>T	ENST00000398661.2	-	4	513	c.382C>A	c.(382-384)Cca>Aca	p.P128T	HMGCLL1_ENST00000508459.1_Missense_Mutation_p.P98T|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.P98T|HMGCLL1_ENST00000428842.1_Missense_Mutation_p.P98T|HMGCLL1_ENST00000370850.2_Missense_Mutation_p.P98T|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.P98T	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	128					ketone body biosynthetic process (GO:0046951)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			CATACCTGTGGTACCCATCTG	0.308																																					Ovarian(35;840 893 7837 15538 42887)	uc003pcn.2		NaN																	0				skin(2)|ovary(1)|pancreas(1)	4						c.(382-384)CCA>ACA		3-hydroxymethyl-3-methylglutaryl-Coenzyme A							85.0	82.0	83.0					6																	55406532		1810	4073	5883	SO:0001583	missense	54511						hydroxymethylglutaryl-CoA lyase activity|metal ion binding	g.chr6:55406532G>T	AK055075	CCDS43474.1, CCDS43475.1, CCDS75472.1, CCDS75473.1	6p12.1	2010-04-30	2010-04-30		ENSG00000146151	ENSG00000146151			21359	protein-coding gene	gene with protein product			"""3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1"""			8619474, 9110174	Standard	NM_001042406		Approved	DKFZP434G1411, bA418P12.1	uc003pcn.3	Q8TB92	OTTHUMG00000014902	ENST00000398661.2:c.382C>A	6.37:g.55406532G>T	ENSP00000381654:p.Pro128Thr					HMGCLL1_uc003pco.2_Missense_Mutation_p.P98T|HMGCLL1_uc010jzx.2_5'UTR|HMGCLL1_uc011dxc.1_Missense_Mutation_p.P98T|HMGCLL1_uc011dxd.1_Missense_Mutation_p.P98T|HMGCLL1_uc011dxe.1_Missense_Mutation_p.P98T|HMGCLL1_uc003pcp.2_Missense_Mutation_p.P98T	p.P128T	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		4	541	-	Lung NSC(77;0.0875)		128					B1AQ42|B3KNV0|B7Z1S7|F8W793|Q6ZSA9	Missense_Mutation	SNP	ENST00000398661.2	37	c.382C>A	CCDS43475.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.545416	0.86022	.	.	ENSG00000146151	ENST00000274901;ENST00000398661;ENST00000370850;ENST00000508459;ENST00000308161;ENST00000428842	D;D;D;D;D;D	0.98381	-4.9;-4.9;-4.71;-4.65;-4.9;-4.65	5.97	5.97	0.96955	Aldolase-type TIM barrel (1);Pyruvate carboxyltransferase (2);	0.050778	0.85682	D	0.000000	D	0.99557	0.9841	H	0.99011	4.4	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.998;0.999;0.986;0.996	D;D;D;D;D;D	0.97110	0.999;1.0;0.978;0.996;0.918;0.988	D	0.98001	1.0360	10	0.87932	D	0	-23.543	20.4387	0.99107	0.0:0.0:1.0:0.0	.	98;98;98;98;98;128	B7Z4D4;B7Z212;F8W793;G5E9S9;Q8TB92-2;Q8TB92	.;.;.;.;.;HMGC2_HUMAN	T	98;128;98;98;98;98	ENSP00000274901:P98T;ENSP00000381654:P128T;ENSP00000359887:P98T;ENSP00000424309:P98T;ENSP00000309737:P98T;ENSP00000412924:P98T	ENSP00000274901:P98T	P	-	1	0	HMGCLL1	55514491	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.869000	0.75521	2.836000	0.97738	0.655000	0.94253	CCA		0.308	HMGCLL1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360290.1		XM_166383		28	125	1	0	1.75199e-13	0.007291	1.87685e-13	28	125		
NT5E	4907	broad.mit.edu	37	6	86200279	86200279	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:86200279G>A	ENST00000257770.3	+	7	1313	c.1264G>A	c.(1264-1266)Gac>Aac	p.D422N	NT5E_ENST00000369651.3_Intron	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	422					adenosine biosynthetic process (GO:0046086)|AMP catabolic process (GO:0006196)|dephosphorylation (GO:0016311)|DNA metabolic process (GO:0006259)|negative regulation of inflammatory response (GO:0050728)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Cytarabine(DB00987)|Pentoxifylline(DB00806)	AGGCACATTTGACCTAGTCCA	0.517																																					Melanoma(140;797 1765 2035 2752 18208)	uc003pko.3		NaN																	0				ovary(3)|central_nervous_system(1)	4						c.(1264-1266)GAC>AAC		5' nucleotidase, ecto precursor	Pentoxifylline(DB00806)						110.0	103.0	105.0					6																	86200279		2203	4300	6503	SO:0001583	missense	4907				DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding	g.chr6:86200279G>A	X55740	CCDS5002.1, CCDS56439.1	6q14-q21	2013-08-28	2002-04-18	2002-04-19	ENSG00000135318	ENSG00000135318	3.1.3.5	"""CD molecules"""	8021	protein-coding gene	gene with protein product		129190	"""5' nucleotidase (CD73)"""	NT5			Standard	NM_002526		Approved	CD73, eN, eNT, CALJA	uc003pko.4	P21589	OTTHUMG00000015139	ENST00000257770.3:c.1264G>A	6.37:g.86200279G>A	ENSP00000257770:p.Asp422Asn					NT5E_uc010kbr.2_Intron	p.D422N	NM_002526	NP_002517	P21589	5NTD_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0417)	7	1820	+		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)	422					B3KQI8|O75520|Q5W116	Missense_Mutation	SNP	ENST00000257770.3	37	c.1264G>A	CCDS5002.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852711	0.91355	.	.	ENSG00000135318	ENST00000369647;ENST00000257770	T	0.54866	0.55	5.93	5.93	0.95920	5&apos (3);-Nucleotidase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.68320	0.2988	M	0.66439	2.03	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.66152	-0.5995	10	0.51188	T	0.08	-20.4126	20.3409	0.98764	0.0:0.0:1.0:0.0	.	422	P21589	5NTD_HUMAN	N	198;422	ENSP00000257770:D422N	ENSP00000257770:D422N	D	+	1	0	NT5E	86256998	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.420000	0.97426	2.814000	0.96858	0.655000	0.94253	GAC		0.517	NT5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041388.1				23	59	0	0	0	0.014323	0	23	59		
ORC3	23595	broad.mit.edu	37	6	88321837	88321837	+	Silent	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:88321837C>G	ENST00000392844.3	+	8	792	c.744C>G	c.(742-744)ctC>ctG	p.L248L	ORC3_ENST00000546266.1_Silent_p.L105L|ORC3_ENST00000417380.2_Silent_p.L195L|ORC3_ENST00000257789.4_Silent_p.L248L	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	248					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|neural precursor cell proliferation (GO:0061351)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|origin recognition complex (GO:0000808)	DNA replication origin binding (GO:0003688)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						CACTAATACTCATTTTTGGAA	0.328																																						uc003pmh.2		NaN																	0					0						c.(742-744)CTC>CTG		origin recognition complex, subunit 3 isoform 2							145.0	129.0	134.0					6																	88321837		2203	4300	6503	SO:0001819	synonymous_variant	23595				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding	g.chr6:88321837C>G	AF093535	CCDS5012.1, CCDS43486.1, CCDS56440.1	6q	2010-10-12	2010-10-12	2010-10-12	ENSG00000135336	ENSG00000135336			8489	protein-coding gene	gene with protein product		604972	"""origin recognition complex, subunit 3 (yeast homolog)-like"", ""origin recognition complex, subunit 3-like (yeast)"", ""origin recognition complex, subunit 3 honolog (yeast)"""	ORC3L		9829972, 10402192	Standard	NM_181837		Approved	IMAGE50150, LATHEO	uc003pmg.3	Q9UBD5	OTTHUMG00000015179	ENST00000392844.3:c.744C>G	6.37:g.88321837C>G						ORC3L_uc011dzl.1_Silent_p.L248L|ORC3L_uc011dzm.1_Silent_p.L248L|ORC3L_uc011dzn.1_RNA|ORC3L_uc003pmg.2_Silent_p.L248L|ORC3L_uc003pmi.2_Silent_p.L248L|ORC3L_uc011dzo.1_Silent_p.L105L|ORC3L_uc011dzp.1_Silent_p.L105L	p.L248L	NM_012381	NP_036513	Q9UBD5	ORC3_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0469)	8	788	+		all_cancers(76;9.05e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000114)	248					A2A2T5|B4E025|Q13565|Q53GY6|Q5T159|Q6IUY7|Q86TN5|Q9UG44|Q9UNT6	Silent	SNP	ENST00000392844.3	37	c.744C>G	CCDS43486.1																																																																																				0.328	ORC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041452.2				20	58	0	0	0	0.012319	0	20	58		
UBE2J1	51465	broad.mit.edu	37	6	90045107	90045107	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:90045107C>G	ENST00000435041.2	-	6	750	c.472G>C	c.(472-474)Gat>Cat	p.D158H		NM_016021.2	NP_057105.2	Q9Y385	UB2J1_HUMAN	ubiquitin-conjugating enzyme E2, J1	158					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(11)|stomach(1)	18		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0139)		AACAGGACATCCTTCATGGCA	0.358																																						uc010kcb.2		NaN																	0					0						c.(472-474)GAT>CAT		ubiquitin-conjugating enzyme E2, J1							93.0	93.0	93.0					6																	90045107		2203	4300	6503	SO:0001583	missense	51465					endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity	g.chr6:90045107C>G	AJ245898	CCDS5021.1	6q15	2014-01-28	2012-06-08		ENSG00000198833	ENSG00000198833		"""Ubiquitin-conjugating enzymes E2"""	17598	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2, J1 (UBC6 homolog, yeast)"""			10708578	Standard	NM_016021		Approved	HSPC153, CGI-76, NCUBE1, UBC6	uc003pnc.3	Q9Y385	OTTHUMG00000016337	ENST00000435041.2:c.472G>C	6.37:g.90045107C>G	ENSP00000451261:p.Asp158His					UBE2J1_uc003pnc.2_Missense_Mutation_p.D158H	p.D158H	NM_016021	NP_057105	Q9Y385	UB2J1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0139)	7	645	-		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)	158			Cytoplasmic (Potential).		A8K3F9|Q53F25|Q5W0N4|Q9BZ32|Q9NQL3|Q9NY66|Q9P011|Q9P0S0|Q9UF10	Missense_Mutation	SNP	ENST00000435041.2	37	c.472G>C	CCDS5021.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.791245	0.50102	.	.	ENSG00000198833	ENST00000435041;ENST00000536477	T	0.47177	0.85	6.03	4.03	0.46877	Ubiquitin-conjugating enzyme/RWD-like (2);	0.434509	0.26895	N	0.021941	T	0.18635	0.0447	L	0.39898	1.24	0.32980	D	0.523559	B	0.18013	0.025	B	0.17098	0.017	T	0.09684	-1.0663	10	0.66056	D	0.02	-9.6888	4.3608	0.11201	0.1836:0.5763:0.0:0.2401	.	158	Q9Y385	UB2J1_HUMAN	H	158;143	ENSP00000451261:D158H	ENSP00000354684:D158H	D	-	1	0	UBE2J1	90101826	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.779000	0.26746	1.567000	0.49668	0.555000	0.69702	GAT		0.358	UBE2J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043742.2		NM_016021		21	54	0	0	0	0.012319	0	21	54		
PRDM1	639	broad.mit.edu	37	6	106552838	106552838	+	Missense_Mutation	SNP	G	G	A	rs367766895		TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:106552838G>A	ENST00000369096.4	+	5	1037	c.803G>A	c.(802-804)cGt>cAt	p.R268H	PRDM1_ENST00000369089.3_Missense_Mutation_p.R134H|PRDM1_ENST00000369091.2_Missense_Mutation_p.R232H	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	268					cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		GACCTCTACCGTTCTAACATT	0.478			"""D, N, Mis, F, S"""		DLBCL																																	uc003prd.2		NaN		Rec	yes		6	6q21	639	D|N|Mis|F|S	"""PR domain containing 1, with ZNF domain"""			L			DLBCL		0				haematopoietic_and_lymphoid_tissue(54)|ovary(1)|skin(1)	56						c.(802-804)CGT>CAT		PR domain containing 1, with ZNF domain isoform		G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	219.0	236.0	230.0		401,803	1.2	0.0	6		230	0,8600		0,0,4300	no	missense,missense	PRDM1	NM_182907.1,NM_001198.3	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	134/692,268/826	106552838	1,13005	2203	4300	6503	SO:0001583	missense	639				negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:106552838G>A		CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"""Zinc fingers, C2H2-type"""	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.803G>A	6.37:g.106552838G>A	ENSP00000358092:p.Arg268His					PRDM1_uc003pre.2_Missense_Mutation_p.R134H	p.R268H	NM_001198	NP_001189	O75626	PRDM1_HUMAN		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)	5	1037	+	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)	268					B2REA6|E1P5E0|Q86WM7	Missense_Mutation	SNP	ENST00000369096.4	37	c.803G>A	CCDS5054.2	.	.	.	.	.	.	.	.	.	.	G	5.958	0.360654	0.11296	2.27E-4	0.0	ENSG00000057657	ENST00000369091;ENST00000369096;ENST00000456278;ENST00000450060;ENST00000369089	T;T;T;T	0.55760	3.14;3.13;0.5;3.12	5.73	1.17	0.20885	.	0.423809	0.28161	N	0.016367	T	0.15782	0.0380	L	0.31294	0.92	0.09310	N	1	B;B	0.12013	0.002;0.005	B;B	0.10450	0.001;0.005	T	0.22871	-1.0204	10	0.32370	T	0.25	-1.0114	6.4985	0.22155	0.223:0.2981:0.4789:0.0	.	134;268	Q86WM7;O75626	.;PRDM1_HUMAN	H	232;268;232;147;134	ENSP00000358087:R232H;ENSP00000358092:R268H;ENSP00000399772:R147H;ENSP00000358085:R134H	ENSP00000358085:R134H	R	+	2	0	PRDM1	106659531	0.745000	0.28261	0.003000	0.11579	0.254000	0.26022	1.744000	0.38268	0.295000	0.22570	-0.211000	0.12701	CGT		0.478	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041661.3				83	734	0	0	0	0.01441	0	83	734		
PDSS2	57107	broad.mit.edu	37	6	107780282	107780282	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:107780282G>T	ENST00000369037.4	-	1	485	c.208C>A	c.(208-210)Cgc>Agc	p.R70S	PDSS2_ENST00000453874.2_Missense_Mutation_p.R70S|PDSS2_ENST00000369031.4_Missense_Mutation_p.R70S	NM_020381.3	NP_065114.3	Q86YH6	DLP1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 2	70					isoprenoid biosynthetic process (GO:0008299)|protein heterotetramerization (GO:0051290)|regulation of body fluid levels (GO:0050878)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	protein heterodimerization activity (GO:0046982)|trans-hexaprenyltranstransferase activity (GO:0000010)|trans-octaprenyltranstransferase activity (GO:0050347)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)	19	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		AGCAGGCAGCGAAGGCTCATG	0.622											OREG0017595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003prt.2		NaN																	0				ovary(2)	2						c.(208-210)CGC>AGC		prenyl diphosphate synthase, subunit 2							56.0	56.0	56.0					6																	107780282		2203	4300	6503	SO:0001583	missense	57107				isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	protein heterodimerization activity	g.chr6:107780282G>T	AF254956	CCDS5059.1	6q21	2006-02-14	2006-02-14	2006-02-14	ENSG00000164494	ENSG00000164494			23041	protein-coding gene	gene with protein product		610564	"""chromosome 6 open reading frame 210"""	C6orf210		16262699	Standard	NM_020381		Approved	bA59I9.3	uc003prt.2	Q86YH6	OTTHUMG00000059359	ENST00000369037.4:c.208C>A	6.37:g.107780282G>T	ENSP00000358033:p.Arg70Ser		OREG0017595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1407	PDSS2_uc011eak.1_Intron|PDSS2_uc011eal.1_Missense_Mutation_p.R70S|PDSS2_uc003pru.2_Missense_Mutation_p.R70S|PDSS2_uc003prv.2_Missense_Mutation_p.R70S	p.R70S	NM_020381	NP_065114	Q86YH6	DLP1_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)	1	498	-	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	70					Q33DR4|Q4G158|Q5VU38|Q5VU39|Q9NR58	Missense_Mutation	SNP	ENST00000369037.4	37	c.208C>A	CCDS5059.1	.	.	.	.	.	.	.	.	.	.	G	36	5.701899	0.96812	.	.	ENSG00000164494	ENST00000369037;ENST00000453874;ENST00000369031	T;T;T	0.63417	-0.04;-0.04;-0.04	5.14	5.14	0.70334	Terpenoid synthase (2);	0.053155	0.85682	D	0.000000	T	0.72244	0.3436	L	0.53561	1.675	0.80722	D	1	D;P;D;D	0.89917	1.0;0.933;1.0;1.0	D;P;D;D	0.91635	0.997;0.851;0.999;0.998	T	0.71262	-0.4645	10	0.52906	T	0.07	.	19.1568	0.93514	0.0:0.0:1.0:0.0	.	70;70;70;70	B4DKU5;Q86YH6-2;B2RE48;Q86YH6	.;.;.;DLP1_HUMAN	S	70	ENSP00000358033:R70S;ENSP00000399691:R70S;ENSP00000358027:R70S	ENSP00000358027:R70S	R	-	1	0	PDSS2	107886975	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.895000	0.92512	2.832000	0.97577	0.655000	0.94253	CGC		0.622	PDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131954.1		NM_020381		10	56	1	0	3.86212e-05	0.008291	3.93576e-05	10	56		
PDSS2	57107	broad.mit.edu	37	6	107780434	107780434	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:107780434G>A	ENST00000369037.4	-	1	333	c.56C>T	c.(55-57)tCc>tTc	p.S19F	PDSS2_ENST00000453874.2_Missense_Mutation_p.S19F|PDSS2_ENST00000369031.4_Missense_Mutation_p.S19F	NM_020381.3	NP_065114.3	Q86YH6	DLP1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 2	19					isoprenoid biosynthetic process (GO:0008299)|protein heterotetramerization (GO:0051290)|regulation of body fluid levels (GO:0050878)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	protein heterodimerization activity (GO:0046982)|trans-hexaprenyltranstransferase activity (GO:0000010)|trans-octaprenyltranstransferase activity (GO:0050347)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)	19	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		GCGACGCGGGGAACCCGAGGC	0.617											OREG0017595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003prt.2		NaN																	0				ovary(2)	2						c.(55-57)TCC>TTC		prenyl diphosphate synthase, subunit 2							54.0	59.0	58.0					6																	107780434		2203	4300	6503	SO:0001583	missense	57107				isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	protein heterodimerization activity	g.chr6:107780434G>A	AF254956	CCDS5059.1	6q21	2006-02-14	2006-02-14	2006-02-14	ENSG00000164494	ENSG00000164494			23041	protein-coding gene	gene with protein product		610564	"""chromosome 6 open reading frame 210"""	C6orf210		16262699	Standard	NM_020381		Approved	bA59I9.3	uc003prt.2	Q86YH6	OTTHUMG00000059359	ENST00000369037.4:c.56C>T	6.37:g.107780434G>A	ENSP00000358033:p.Ser19Phe		OREG0017595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1407	PDSS2_uc011eak.1_Intron|PDSS2_uc011eal.1_Missense_Mutation_p.S19F|PDSS2_uc003pru.2_Missense_Mutation_p.S19F|PDSS2_uc003prv.2_Missense_Mutation_p.S19F	p.S19F	NM_020381	NP_065114	Q86YH6	DLP1_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)	1	346	-	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	19					Q33DR4|Q4G158|Q5VU38|Q5VU39|Q9NR58	Missense_Mutation	SNP	ENST00000369037.4	37	c.56C>T	CCDS5059.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.247126	0.39697	.	.	ENSG00000164494	ENST00000369037;ENST00000453874;ENST00000369031	T;T;T	0.73152	-0.72;-0.15;0.78	4.95	1.06	0.20224	.	2.252510	0.01699	N	0.027088	T	0.28300	0.0699	N	0.08118	0	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.0;0.0	T	0.15206	-1.0445	10	0.49607	T	0.09	.	5.1572	0.15040	0.1822:0.3276:0.4902:0.0	.	19;19;19;19	B4DKU5;Q86YH6-2;B2RE48;Q86YH6	.;.;.;DLP1_HUMAN	F	19	ENSP00000358033:S19F;ENSP00000399691:S19F;ENSP00000358027:S19F	ENSP00000358027:S19F	S	-	2	0	PDSS2	107887127	0.065000	0.20965	0.001000	0.08648	0.757000	0.42996	0.641000	0.24720	0.068000	0.16574	0.655000	0.94253	TCC		0.617	PDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131954.1		NM_020381		17	115	0	0	0	0.006122	0	17	115		
REV3L	5980	broad.mit.edu	37	6	111628632	111628632	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:111628632G>A	ENST00000358835.3	-	32	9638	c.9184C>T	c.(9184-9186)Cag>Tag	p.Q3062*	REV3L_ENST00000368802.3_Nonsense_Mutation_p.Q3062*|RP5-1112D6.8_ENST00000607434.1_RNA|REV3L_ENST00000462119.1_5'UTR|REV3L_ENST00000368805.1_Nonsense_Mutation_p.Q3062*|REV3L_ENST00000435970.1_Nonsense_Mutation_p.Q2984*			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	3062					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GCAACATGCTGAGGTTGGCTC	0.458								DNA polymerases (catalytic subunits)																														uc003puy.3		NaN																	0				large_intestine(2)|ovary(2)|skin(2)	6						c.(9184-9186)CAG>TAG	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA polymerase zeta							223.0	181.0	195.0					6																	111628632		2203	4300	6503	SO:0001587	stop_gained	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111628632G>A	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.9184C>T	6.37:g.111628632G>A	ENSP00000351697:p.Gln3062*					REV3L_uc003pux.3_Nonsense_Mutation_p.Q2984*|REV3L_uc003puz.3_Nonsense_Mutation_p.Q2984*|REV3L_uc003puw.3_Nonsense_Mutation_p.Q129*	p.Q3062*	NM_002912	NP_002903	O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	31	9507	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	3062					O43214|Q5TC33	Nonsense_Mutation	SNP	ENST00000358835.3	37	c.9184C>T	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	G	54	23.244106	0.99953	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-3.4662	19.8505	0.96738	0.0:0.0:1.0:0.0	.	.	.	.	X	3062;3062;3062;2984	.	ENSP00000351697:Q3062X	Q	-	1	0	REV3L	111735325	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.589000	0.98235	2.688000	0.91661	0.655000	0.94253	CAG		0.458	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1		NM_002912		28	98	0	0	0	0.012213	0	28	98		
RWDD1	51389	broad.mit.edu	37	6	116914146	116914146	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:116914146G>C	ENST00000466444.2	+	7	830	c.614G>C	c.(613-615)gGa>gCa	p.G205A	RWDD1_ENST00000487832.2_Missense_Mutation_p.G109A|RWDD1_ENST00000392526.1_Missense_Mutation_p.G109A	NM_015952.2	NP_057036.2	Q9H446	RWDD1_HUMAN	RWD domain containing 1	205										NS(1)|breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)	12		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.0312)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)|Epithelial(106;0.161)		TTTGCAGCTGGAAACAACGTG	0.393																																						uc003pxd.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(613-615)GGA>GCA		RWD domain containing 1 isoform a							95.0	93.0	94.0					6																	116914146		2203	4300	6503	SO:0001583	missense	51389						protein binding	g.chr6:116914146G>C	AF092134	CCDS34520.1, CCDS43496.1	6q13-q22.33	2012-12-07			ENSG00000111832	ENSG00000111832			20993	protein-coding gene	gene with protein product						10810093	Standard	NM_016104		Approved	PTD013	uc003pxd.3	Q9H446	OTTHUMG00000015441	ENST00000466444.2:c.614G>C	6.37:g.116914146G>C	ENSP00000420357:p.Gly205Ala					RWDD1_uc003pxb.2_Missense_Mutation_p.G109A|RWDD1_uc003pxc.2_Missense_Mutation_p.G109A	p.G205A	NM_015952	NP_057036	Q9H446	RWDD1_HUMAN		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.0312)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)|Epithelial(106;0.161)	7	777	+		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	205					A8K3W2|A8MT24|Q9Y313|Q9Y6B3	Missense_Mutation	SNP	ENST00000466444.2	37	c.614G>C	CCDS34520.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.905164	0.92035	.	.	ENSG00000111832	ENST00000466444;ENST00000392526;ENST00000487832	T;T;T	0.38887	1.11;1.11;1.11	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.59335	0.2186	M	0.74881	2.28	0.80722	D	1	D	0.76494	0.999	D	0.69142	0.962	T	0.58544	-0.7618	10	0.46703	T	0.11	-1.5936	19.5543	0.95335	0.0:0.0:1.0:0.0	.	205	Q9H446	RWDD1_HUMAN	A	205;109;109	ENSP00000420357:G205A;ENSP00000376311:G109A;ENSP00000428778:G109A	ENSP00000376311:G109A	G	+	2	0	RWDD1	117020839	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.733000	0.98818	2.617000	0.88574	0.655000	0.94253	GGA		0.393	RWDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041952.2		NM_015952		7	44	0	0	0	0.004482	0	7	44		
PTPRK	5796	broad.mit.edu	37	6	128291416	128291416	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:128291416G>A	ENST00000368215.3	-	30	4275	c.4276C>T	c.(4276-4278)Cgt>Tgt	p.R1426C	PTPRK_ENST00000368210.3_Missense_Mutation_p.R1445C|PTPRK_ENST00000368207.3_Missense_Mutation_p.R1459C|PTPRK_ENST00000532331.1_Missense_Mutation_p.R1449C|PTPRK_ENST00000368213.5_Missense_Mutation_p.R1433C|PTPRK_ENST00000368227.3_Missense_Mutation_p.R1444C|PTPRK_ENST00000368226.4_Missense_Mutation_p.R1427C			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1426	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TAGCAGAAACGGTATTGCTCC	0.373																																						uc003qbk.2		NaN																	0				ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8						c.(4276-4278)CGT>TGT		protein tyrosine phosphatase, receptor type, K							107.0	93.0	97.0					6																	128291416		2203	4300	6503	SO:0001583	missense	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128291416G>A	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.4276C>T	6.37:g.128291416G>A	ENSP00000357198:p.Arg1426Cys					PTPRK_uc003qbj.2_Missense_Mutation_p.R1427C|PTPRK_uc010kfc.2_Missense_Mutation_p.R1433C|PTPRK_uc011ebu.1_Missense_Mutation_p.R1449C	p.R1426C	NM_002844	NP_002835	Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	30	4643	-			1426			Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	37	c.4276C>T		.	.	.	.	.	.	.	.	.	.	G	20.6	4.019393	0.75275	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207	D;D;D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74	5.17	5.17	0.71159	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.89230	0.6656	M	0.69463	2.115	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.76071	0.987;0.969;0.981;0.967	D	0.90027	0.4132	10	0.87932	D	0	.	18.9908	0.92791	0.0:0.0:1.0:0.0	.	1449;1433;1426;1427	B7ZMG0;Q15262-3;Q15262;Q15262-2	.;.;PTPRK_HUMAN;.	C	1427;1444;1449;1433;1445;1426;1459	ENSP00000357209:R1427C;ENSP00000357210:R1444C;ENSP00000432973:R1449C;ENSP00000357196:R1433C;ENSP00000357193:R1445C;ENSP00000357198:R1426C;ENSP00000357190:R1459C	ENSP00000357190:R1459C	R	-	1	0	PTPRK	128333109	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.809000	0.99208	2.546000	0.85860	0.655000	0.94253	CGT		0.373	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1				19	59	0	0	0	0.008871	0	19	59		
PERP	64065	broad.mit.edu	37	6	138413346	138413346	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:138413346G>C	ENST00000421351.3	-	3	585	c.415C>G	c.(415-417)Ctt>Gtt	p.L139V		NM_022121.4	NP_071404.2	Q96FX8	PERP_HUMAN	PERP, TP53 apoptosis effector	139					activation of cysteine-type endopeptidase activity (GO:0097202)|amelogenesis (GO:0097186)|desmosome organization (GO:0002934)|heterotypic cell-cell adhesion (GO:0034113)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of proteolysis (GO:0045862)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(1)|lung(1)|prostate(1)	5	Breast(32;0.0799)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000878)|OV - Ovarian serous cystadenocarcinoma(155;0.000997)		TTGGCATGAAGGGTGAAGGTC	0.488																																						uc003qht.2		NaN																	0					0						c.(415-417)CTT>GTT		PERP, TP53 apoptosis effector							96.0	92.0	93.0					6																	138413346		2203	4300	6503	SO:0001583	missense	64065				apoptosis|cell adhesion	desmosome|Golgi apparatus|integral to membrane|nucleus		g.chr6:138413346G>C	AF317550	CCDS5188.1	6q24	2014-04-29			ENSG00000112378	ENSG00000112378			17637	protein-coding gene	gene with protein product	"""keratinocyte associated protein 1"""	609301				11062687	Standard	NM_022121		Approved	PIGPC1, dJ496H19.1, KCP1, THW, KRTCAP1	uc003qht.2	Q96FX8	OTTHUMG00000015668	ENST00000421351.3:c.415C>G	6.37:g.138413346G>C	ENSP00000397157:p.Leu139Val						p.L139V	NM_022121	NP_071404	Q96FX8	PERP_HUMAN		GBM - Glioblastoma multiforme(68;0.000878)|OV - Ovarian serous cystadenocarcinoma(155;0.000997)	3	598	-	Breast(32;0.0799)|Colorectal(23;0.24)		139					B2RB73|E1P590|Q8IWS3|Q8N1J6|Q8NC16|Q9H1C5|Q9H230	Missense_Mutation	SNP	ENST00000421351.3	37	c.415C>G	CCDS5188.1	.	.	.	.	.	.	.	.	.	.	G	7.372	0.626996	0.14257	.	.	ENSG00000112378	ENST00000421351;ENST00000265603	D	0.88586	-2.4	5.1	3.18	0.36537	.	0.408437	0.27080	N	0.021023	T	0.77315	0.4112	L	0.42245	1.32	0.09310	N	1	P	0.52170	0.951	P	0.49528	0.614	T	0.70178	-0.4943	10	0.41790	T	0.15	-14.2655	3.3366	0.07103	0.2155:0.0:0.4441:0.3403	.	139	Q96FX8	PERP_HUMAN	V	139;121	ENSP00000397157:L139V	ENSP00000265603:L121V	L	-	1	0	PERP	138455039	0.987000	0.35691	0.105000	0.21289	0.138000	0.21146	3.119000	0.50422	1.279000	0.44446	0.561000	0.74099	CTT		0.488	PERP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042423.2		NM_022121		26	102	0	0	0	0.027356	0	26	102		
BRAT1	221927	broad.mit.edu	37	7	2583404	2583404	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr7:2583404G>A	ENST00000340611.4	-	5	879	c.623C>T	c.(622-624)tCc>tTc	p.S208F	BRAT1_ENST00000473879.1_5'Flank	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	208					response to ionizing radiation (GO:0010212)	membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						GGTGGCCGCGGAGCACAAGGA	0.677																																						uc003smi.2		NaN																	0					0						c.(622-624)TCC>TTC		hypothetical protein LOC221927 precursor							61.0	72.0	69.0					7																	2583404		2203	4300	6503	SO:0001583	missense	221927				response to ionizing radiation	nucleus	protein binding	g.chr7:2583404G>A	BC015632	CCDS5334.1	7p22.3	2011-03-22	2011-02-28	2011-03-22	ENSG00000106009	ENSG00000106009			21701	protein-coding gene	gene with protein product	"""BRCA1-associated protein required for ATM activation protein 1"""	614506	"""chromosome 7 open reading frame 27"""	C7orf27, BAAT1		16452482	Standard	NM_152743		Approved	MGC22916	uc003smi.3	Q6PJG6	OTTHUMG00000119091	ENST00000340611.4:c.623C>T	7.37:g.2583404G>A	ENSP00000339637:p.Ser208Phe					C7orf27_uc003smh.3_5'Flank|C7orf27_uc003smj.1_Missense_Mutation_p.S208F	p.S208F	NM_152743	NP_689956	Q6PJG6	BRAT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.91e-14)	5	665	-		Ovarian(82;0.0779)	208					A4D200|C9JY24|Q8IW85|Q8IZ43|Q8WVR8|Q96IV9|Q9H7J8|Q9UFA3	Missense_Mutation	SNP	ENST00000340611.4	37	c.623C>T	CCDS5334.1	.	.	.	.	.	.	.	.	.	.	G	6.952	0.545492	0.13312	.	.	ENSG00000106009	ENST00000340611	D	0.90732	-2.72	5.71	3.93	0.45458	Armadillo-type fold (1);	0.272150	0.43579	N	0.000556	D	0.91656	0.7363	M	0.64997	1.995	0.09310	N	1	B;P	0.45396	0.003;0.857	B;P	0.50791	0.006;0.65	D	0.85018	0.0910	10	0.62326	D	0.03	-23.1949	13.036	0.58873	0.0662:0.117:0.8168:0.0	.	208;208	Q6PJG6-2;Q6PJG6	.;BRAT1_HUMAN	F	208	ENSP00000339637:S208F	ENSP00000339637:S208F	S	-	2	0	BRAT1	2549930	0.973000	0.33851	0.001000	0.08648	0.006000	0.05464	2.767000	0.47637	0.361000	0.24292	-2.172000	0.00323	TCC		0.677	BRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239305.2		NM_152743		44	149	0	0	0	0.01441	0	44	149		
TNRC18	84629	broad.mit.edu	37	7	5353241	5353241	+	Silent	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr7:5353241G>C	ENST00000430969.1	-	27	7629	c.7281C>G	c.(7279-7281)ctC>ctG	p.L2427L	TNRC18_ENST00000399537.4_Silent_p.L2427L	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2427	Pro-rich.						chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GCATGGTGATGAGGGGTGCTG	0.721																																						uc003soi.3		NaN																	0					0						c.(7279-7281)CTC>CTG		trinucleotide repeat containing 18							10.0	11.0	10.0					7																	5353241		1559	3573	5132	SO:0001819	synonymous_variant	84629						DNA binding	g.chr7:5353241G>C	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.7281C>G	7.37:g.5353241G>C							p.L2427L	NM_001080495	NP_001073964	O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	27	7630	-		Ovarian(82;0.142)	2427			Pro-rich.		A8MX41|Q96JH1|Q96K91	Silent	SNP	ENST00000430969.1	37	c.7281C>G	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	g	0.490	-0.875972	0.02550	.	.	ENSG00000182095	ENST00000328270	.	.	.	3.35	-0.767	0.11016	.	.	.	.	.	T	0.23846	0.0577	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.28073	-1.0055	4	.	.	.	.	5.0412	0.14460	0.3147:0.3881:0.2972:0.0	.	.	.	.	D	241	.	.	H	-	1	0	TNRC18	5319767	0.011000	0.17503	0.019000	0.16419	0.527000	0.34593	0.393000	0.20817	-0.161000	0.10983	0.561000	0.74099	CAT		0.721	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding					13	13	0	0	0	0.024245	0	13	13		
RPA3	6119	broad.mit.edu	37	7	7676707	7676707	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr7:7676707C>G	ENST00000223129.4	-	8	1461	c.290G>C	c.(289-291)gGa>gCa	p.G97A	RPA3_ENST00000396682.2_Missense_Mutation_p.G97A|RPA3_ENST00000406109.1_Missense_Mutation_p.G58A|RPA3_ENST00000401447.1_Missense_Mutation_p.G58A	NM_002947.3	NP_002938.1	P35244	RFA3_HUMAN	replication protein A3, 14kDa	97					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of cell proliferation (GO:0042127)|regulation of mitotic cell cycle (GO:0007346)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.202)		ATTGTAAAGTCCAAGATCTGA	0.303								Direct reversal of damage;Nucleotide excision repair (NER)																													Colon(148;376 1816 25359 26011 31717)	uc003sri.2		NaN																	0				large_intestine(1)	1						c.(289-291)GGA>GCA	Direct_reversal_of_damage|NER	replication protein A3, 14kDa							107.0	112.0	110.0					7																	7676707		2203	4299	6502	SO:0001583	missense	6119				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	cytoplasm|DNA replication factor A complex|nucleoplasm	protein binding|single-stranded DNA binding	g.chr7:7676707C>G		CCDS5356.1	7p21.3	2013-09-23	2002-08-29		ENSG00000106399	ENSG00000106399			10291	protein-coding gene	gene with protein product		179837	"""replication protein A3 (14kD)"""			8454588	Standard	NM_002947		Approved	REPA3	uc003sri.3	P35244	OTTHUMG00000023748	ENST00000223129.4:c.290G>C	7.37:g.7676707C>G	ENSP00000223129:p.Gly97Ala					RPA3_uc003srh.2_Missense_Mutation_p.G58A	p.G97A	NM_002947	NP_002938	P35244	RFA3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.202)	8	1462	-		Ovarian(82;0.0607)	97					Q549U6	Missense_Mutation	SNP	ENST00000223129.4	37	c.290G>C	CCDS5356.1	.	.	.	.	.	.	.	.	.	.	C	9.470	1.095430	0.20471	.	.	ENSG00000106399	ENST00000223129;ENST00000406109;ENST00000396682;ENST00000401447	.	.	.	4.66	2.82	0.32997	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.301497	0.36854	N	0.002373	T	0.17066	0.0410	N	0.16478	0.41	0.23780	N	0.996866	B	0.19706	0.038	B	0.12156	0.007	T	0.12293	-1.0553	9	0.18276	T	0.48	-0.2725	4.5968	0.12334	0.0:0.4862:0.3081:0.2057	.	97	P35244	RFA3_HUMAN	A	97;58;97;58	.	ENSP00000223129:G97A	G	-	2	0	RPA3	7643232	0.982000	0.34865	1.000000	0.80357	0.998000	0.95712	-0.005000	0.12855	1.308000	0.44962	0.561000	0.74099	GGA		0.303	RPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324778.2		NM_002947		29	211	0	0	0	0.00632	0	29	211		
DNAH11	8701	broad.mit.edu	37	7	21599258	21599258	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr7:21599258G>T	ENST00000409508.3	+	4	761	c.730G>T	c.(730-732)Gaa>Taa	p.E244*	DNAH11_ENST00000328843.6_Nonsense_Mutation_p.E244*	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	244	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						TCATGCAATTGAATCTGTGGT	0.338									Kartagener syndrome																													uc003svc.2		NaN																	0				ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(730-732)GAA>TAA		dynein, axonemal, heavy chain 11							85.0	81.0	82.0					7																	21599258		1845	4081	5926	SO:0001587	stop_gained	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.chr7:21599258G>T	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.730G>T	7.37:g.21599258G>T	ENSP00000475939:p.Glu244*						p.E244*	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			4	761	+			244			Stem (By similarity).		Q9UJ82	Nonsense_Mutation	SNP	ENST00000409508.3	37	c.730G>T		.	.	.	.	.	.	.	.	.	.	G	38	6.971789	0.97971	.	.	ENSG00000105877	ENST00000328843	.	.	.	5.84	4.95	0.65309	.	0.053632	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	14.2075	0.65744	0.0743:0.0:0.9257:0.0	.	.	.	.	X	244	.	ENSP00000330671:E244X	E	+	1	0	DNAH11	21565783	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	6.559000	0.73946	2.755000	0.94549	0.563000	0.77884	GAA		0.338	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6		NM_003777		25	34	1	0	6.32553e-13	0.024334	6.7463e-13	25	34		
CCDC129	223075	broad.mit.edu	37	7	31611746	31611746	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr7:31611746C>T	ENST00000407970.3	+	6	377	c.339C>T	c.(337-339)atC>atT	p.I113I	CCDC129_ENST00000409210.1_Silent_p.I21I|CCDC129_ENST00000482748.1_3'UTR|CCDC129_ENST00000319386.3_Silent_p.I113I|CCDC129_ENST00000451887.2_Silent_p.I139I	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	113										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AAACTCCCATCCTATCCAGAG	0.398																																						uc003tcj.1		NaN																	0					0						c.(337-339)ATC>ATT		coiled-coil domain containing 129							118.0	103.0	108.0					7																	31611746		2203	4300	6503	SO:0001819	synonymous_variant	223075							g.chr7:31611746C>T	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.339C>T	7.37:g.31611746C>T						CCDC129_uc011kad.1_Silent_p.I123I|CCDC129_uc003tci.1_Silent_p.I112I|CCDC129_uc011kae.1_Silent_p.I139I|CCDC129_uc003tck.1_Silent_p.I21I	p.I113I	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN			6	1332	+			113					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Silent	SNP	ENST00000407970.3	37	c.339C>T	CCDS5435.2																																																																																				0.398	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1		NM_194300		10	82	0	0	0	0.016723	0	10	82		
BBS9	27241	broad.mit.edu	37	7	33545228	33545228	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr7:33545228C>G	ENST00000242067.6	+	20	2790	c.2269C>G	c.(2269-2271)Ctg>Gtg	p.L757V	BBS9_ENST00000354265.4_Missense_Mutation_p.L722V|BBS9_ENST00000396127.2_Missense_Mutation_p.L722V|BBS9_ENST00000355070.2_Missense_Mutation_p.L752V|BBS9_ENST00000350941.3_Missense_Mutation_p.L717V	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	757	Interaction with LZTL1.				cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.L757L(2)	BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			AGCGGCATTTCTGCCGCTACA	0.488									Bardet-Biedl syndrome																													uc003tdn.1		NaN																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(2269-2271)CTG>GTG		parathyroid hormone-responsive B1 isoform 2							61.0	57.0	59.0					7																	33545228		2203	4300	6503	SO:0001583	missense	27241	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	g.chr7:33545228C>G		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.2269C>G	7.37:g.33545228C>G	ENSP00000242067:p.Leu757Val					BBS9_uc003tdo.1_Missense_Mutation_p.L722V|BBS9_uc003tdp.1_Missense_Mutation_p.L752V|BBS9_uc003tdq.1_Missense_Mutation_p.L717V|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_Missense_Mutation_p.L281V|BBS9_uc003tds.1_Missense_Mutation_p.L180V|BBS9_uc003tdt.2_RNA	p.L757V	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		20	2782	+			757					E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Missense_Mutation	SNP	ENST00000242067.6	37	c.2269C>G	CCDS43566.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.80|10.80	1.453827|1.453827	0.26161|0.26161	.|.	.|.	ENSG00000122507|ENSG00000122507	ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132|ENST00000434373	T;T;T;T;T|.	0.12039|.	2.72;2.72;2.72;2.72;2.72|.	5.61|5.61	4.63|4.63	0.57726|0.57726	.|.	0.000000|.	0.64402|.	D|.	0.000005|.	T|T	0.44603|0.44603	0.1301|0.1301	L|L	0.38175|0.38175	1.15|1.15	0.80722|0.80722	D|D	1|1	B;P;P;P;D|.	0.54601|.	0.383;0.532;0.532;0.532;0.967|.	B;B;B;B;P|.	0.54026|.	0.19;0.19;0.19;0.19;0.74|.	T|T	0.37753|0.37753	-0.9692|-0.9692	10|5	0.05959|.	T|.	0.93|.	-8.5853|-8.5853	4.1194|4.1194	0.10098|0.10098	0.0:0.7062:0.0:0.2938|0.0:0.7062:0.0:0.2938	.|.	757;717;752;722;757|.	Q3SYG4-3;Q3SYG4-2;E9PDC9;Q3SYG4-4;Q3SYG4|.	.;.;.;.;PTHB1_HUMAN|.	V|C	757;717;722;752;722;757|323	ENSP00000242067:L757V;ENSP00000313122:L717V;ENSP00000379433:L722V;ENSP00000347182:L752V;ENSP00000346214:L722V|.	ENSP00000242067:L757V|.	L|S	+|+	1|2	2|0	BBS9|BBS9	33511753|33511753	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	2.697000|2.697000	0.47060|0.47060	2.656000|2.656000	0.90262|0.90262	0.561000|0.561000	0.74099|0.74099	CTG|TCT		0.488	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1				17	136	0	0	0	0.004007	0	17	136		
GLI3	2737	broad.mit.edu	37	7	42005585	42005585	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr7:42005585C>T	ENST00000395925.3	-	15	3170	c.3086G>A	c.(3085-3087)aGc>aAc	p.S1029N	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1029					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GGGGTTGCAGCTGCTGAGGCT	0.711									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													uc011kbh.1		NaN																	0				lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						c.(3085-3087)AGC>AAC		GLI-Kruppel family member GLI3							16.0	19.0	18.0					7																	42005585		2197	4297	6494	SO:0001583	missense	2737	Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42005585C>T		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3086G>A	7.37:g.42005585C>T	ENSP00000379258:p.Ser1029Asn					GLI3_uc011kbg.1_Missense_Mutation_p.S970N	p.S1029N	NM_000168	NP_000159	P10071	GLI3_HUMAN			15	3177	-			1029					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.3086G>A	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	C	0.049	-1.256295	0.01457	.	.	ENSG00000106571	ENST00000395925	T	0.12147	2.71	5.33	5.33	0.75918	.	0.126564	0.85682	D	0.000000	T	0.06234	0.0161	N	0.05574	-0.02	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.14952	-1.0454	10	0.02654	T	1	.	12.3831	0.55317	0.0:0.9229:0.0:0.0771	.	1029	P10071	GLI3_HUMAN	N	1029	ENSP00000379258:S1029N	ENSP00000379258:S1029N	S	-	2	0	GLI3	41972110	1.000000	0.71417	0.465000	0.27155	0.011000	0.07611	3.732000	0.55021	2.473000	0.83533	0.563000	0.77884	AGC		0.711	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3		NM_000168		5	25	0	0	0	0.021553	0	5	25		
GLI3	2737	broad.mit.edu	37	7	42005604	42005604	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr7:42005604G>A	ENST00000395925.3	-	15	3151	c.3067C>T	c.(3067-3069)Cgc>Tgc	p.R1023C	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1023					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CTGCTGAAGCGCGGCACACGA	0.731									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													uc011kbh.1		NaN																	0				lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						c.(3067-3069)CGC>TGC		GLI-Kruppel family member GLI3																																				SO:0001583	missense	2737	Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42005604G>A		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3067C>T	7.37:g.42005604G>A	ENSP00000379258:p.Arg1023Cys					GLI3_uc011kbg.1_Missense_Mutation_p.R964C	p.R1023C	NM_000168	NP_000159	P10071	GLI3_HUMAN			15	3158	-			1023					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.3067C>T	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154691	0.57259	.	.	ENSG00000106571	ENST00000395925	T	0.34072	1.38	5.33	5.33	0.75918	.	0.097453	0.64402	D	0.000001	T	0.60573	0.2279	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.63488	0.915	T	0.66532	-0.5900	10	0.87932	D	0	.	13.9329	0.64007	0.0:0.0:0.848:0.152	.	1023	P10071	GLI3_HUMAN	C	1023	ENSP00000379258:R1023C	ENSP00000379258:R1023C	R	-	1	0	GLI3	41972129	1.000000	0.71417	0.236000	0.24074	0.039000	0.13416	6.425000	0.73370	2.473000	0.83533	0.563000	0.77884	CGC		0.731	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3		NM_000168		4	22	0	0	0	0.014758	0	4	22		
ABCA13	154664	broad.mit.edu	37	7	48266924	48266924	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr7:48266924C>G	ENST00000435803.1	+	6	558	c.534C>G	c.(532-534)atC>atG	p.I178M		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	178					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AGCCTCATATCTGGGATTTTC	0.428																																						uc003toq.2		NaN																	0				ovary(5)|central_nervous_system(4)|skin(1)	10						c.(532-534)ATC>ATG		ATP binding cassette, sub-family A (ABC1),							152.0	151.0	151.0					7																	48266924		1884	4105	5989	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48266924C>G	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.534C>G	7.37:g.48266924C>G	ENSP00000411096:p.Ile178Met					ABCA13_uc003top.2_Missense_Mutation_p.I178M|ABCA13_uc010kyr.2_Translation_Start_Site	p.I178M	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			6	559	+			178					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.534C>G	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.118343	0.37339	.	.	ENSG00000179869	ENST00000435803	T	0.33216	1.42	5.37	0.754	0.18410	.	0.583196	0.13779	N	0.363302	T	0.35682	0.0940	L	0.54323	1.7	0.80722	D	1	P;D	0.55172	0.718;0.97	B;P	0.56042	0.39;0.79	T	0.29027	-1.0025	10	0.51188	T	0.08	.	2.7384	0.05246	0.2048:0.4065:0.0:0.3887	.	178;178	Q86UQ4;Q86UQ4-2	ABCAD_HUMAN;.	M	178	ENSP00000411096:I178M	ENSP00000409268:I178M	I	+	3	3	ABCA13	48237470	0.980000	0.34600	0.889000	0.34880	0.443000	0.32047	0.122000	0.15687	0.208000	0.20626	0.557000	0.71058	ATC		0.428	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2		NM_152701		32	135	0	0	0	0.013726	0	32	135		
ABCA13	154664	broad.mit.edu	37	7	48349571	48349571	+	Silent	SNP	C	C	T	rs199645353		TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr7:48349571C>T	ENST00000435803.1	+	24	9373	c.9349C>T	c.(9349-9351)Ctg>Ttg	p.L3117L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3117					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CACCGTAGCTCTGTCTGGAAA	0.502																																						uc003toq.2		NaN																	0				ovary(5)|central_nervous_system(4)|skin(1)	10						c.(9349-9351)CTG>TTG		ATP binding cassette, sub-family A (ABC1),							107.0	104.0	105.0					7																	48349571		1959	4158	6117	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48349571C>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.9349C>T	7.37:g.48349571C>T						ABCA13_uc010kys.1_Silent_p.L191L	p.L3117L	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			24	9374	+			3117					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.9349C>T	CCDS47584.1																																																																																				0.502	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2		NM_152701		21	105	0	0	0	0.010504	0	21	105		
AUTS2	26053	broad.mit.edu	37	7	70249966	70249966	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr7:70249966C>G	ENST00000342771.4	+	16	2506	c.2185C>G	c.(2185-2187)Cct>Gct	p.P729A	AUTS2_ENST00000406775.2_Missense_Mutation_p.P705A	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	729										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		TGGGCCACCTCCTCATCACAG	0.507																																						uc003tvw.3		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(2185-2187)CCT>GCT		autism susceptibility candidate 2 isoform 1							116.0	98.0	104.0					7																	70249966		2203	4300	6503	SO:0001583	missense	26053							g.chr7:70249966C>G	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.2185C>G	7.37:g.70249966C>G	ENSP00000344087:p.Pro729Ala					AUTS2_uc003tvx.3_Missense_Mutation_p.P705A|AUTS2_uc011keg.1_Missense_Mutation_p.P181A	p.P729A	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	16	2928	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	729					A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	c.2185C>G	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.116613	0.37339	.	.	ENSG00000158321	ENST00000406775;ENST00000342771	T;T	0.34072	1.4;1.38	5.95	5.07	0.68467	.	0.044767	0.85682	D	0.000000	T	0.22360	0.0539	N	0.21240	0.645	0.80722	D	1	B;P;P	0.43578	0.037;0.811;0.811	B;B;B	0.36534	0.027;0.227;0.227	T	0.03315	-1.1049	9	.	.	.	-7.5395	11.3827	0.49768	0.0:0.8058:0.1265:0.0677	.	181;705;729	B4DLG0;Q8WXX7-2;Q8WXX7	.;.;AUTS2_HUMAN	A	705;729	ENSP00000385263:P705A;ENSP00000344087:P729A	.	P	+	1	0	AUTS2	69887902	1.000000	0.71417	0.913000	0.36048	0.994000	0.84299	5.254000	0.65457	1.521000	0.48983	0.650000	0.86243	CCT		0.507	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2				14	62	0	0	0	0.00499	0	14	62		
GTF2IRD1	9569	broad.mit.edu	37	7	73933956	73933956	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr7:73933956C>G	ENST00000265755.3	+	6	1216	c.823C>G	c.(823-825)Cct>Gct	p.P275A	GTF2IRD1_ENST00000476977.1_Missense_Mutation_p.P275A|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.P275A|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.P307A	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	275					multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GCAGGAAGCACCTTCCTGCCC	0.657																																						uc003uaq.2		NaN																	0				ovary(4)	4						c.(823-825)CCT>GCT		GTF2I repeat domain containing 1 isoform 1							54.0	50.0	51.0					7																	73933956		2203	4300	6503	SO:0001583	missense	9569					nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr7:73933956C>G	AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"""binding factor for early enhancer"""	604318	"""GTF2I repeat domain-containing 1"""	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.823C>G	7.37:g.73933956C>G	ENSP00000265755:p.Pro275Ala					GTF2IRD1_uc010lbq.2_Missense_Mutation_p.P307A|GTF2IRD1_uc003uap.2_Missense_Mutation_p.P275A|GTF2IRD1_uc003uar.1_Missense_Mutation_p.P275A	p.P275A	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN			6	1216	+			275					O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Missense_Mutation	SNP	ENST00000265755.3	37	c.823C>G	CCDS5571.1	.	.	.	.	.	.	.	.	.	.	C	5.615	0.298227	0.10622	.	.	ENSG00000006704	ENST00000265755;ENST00000455841;ENST00000424337;ENST00000476977	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	5.13	2.28	0.28536	.	0.450681	0.22633	N	0.057541	T	0.15869	0.0382	N	0.24115	0.695	0.09310	N	1	B;B;B;B	0.20368	0.005;0.044;0.034;0.027	B;B;B;B	0.20384	0.006;0.014;0.018;0.029	T	0.25363	-1.0134	10	0.16896	T	0.51	-4.3594	4.704	0.12841	0.0:0.5674:0.1594:0.2732	.	307;275;275;275	Q6DSU6;E9PFE2;Q9UHL9;Q9UHL9-2	.;.;GT2D1_HUMAN;.	A	275;307;275;275	ENSP00000265755:P275A;ENSP00000397566:P307A;ENSP00000408477:P275A;ENSP00000418383:P275A	ENSP00000265755:P275A	P	+	1	0	GTF2IRD1	73571892	0.004000	0.15560	0.001000	0.08648	0.110000	0.19582	0.515000	0.22801	0.256000	0.21614	0.561000	0.74099	CCT		0.657	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252654.2		NM_016328		13	55	0	0	0	0.013537	0	13	55		
ABCB4	5244	broad.mit.edu	37	7	87072646	87072646	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr7:87072646C>T	ENST00000265723.4	-	12	1456	c.1345G>A	c.(1345-1347)Gat>Aat	p.D449N	ABCB4_ENST00000358400.3_Missense_Mutation_p.D449N|ABCB4_ENST00000359206.3_Missense_Mutation_p.D449N|ABCB4_ENST00000545634.1_Missense_Mutation_p.D449N|ABCB4_ENST00000453593.1_Missense_Mutation_p.D449N	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	449	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	GTGCCCTCATCAGGGTCATAG	0.507																																						uc003uiv.1		NaN																	0				ovary(4)|skin(1)|pancreas(1)	6						c.(1345-1347)GAT>AAT		ATP-binding cassette, subfamily B, member 4							190.0	183.0	185.0					7																	87072646		2203	4300	6503	SO:0001583	missense	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87072646C>T	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.1345G>A	7.37:g.87072646C>T	ENSP00000265723:p.Asp449Asn					ABCB4_uc003uiw.1_Missense_Mutation_p.D449N|ABCB4_uc003uix.1_Missense_Mutation_p.D449N	p.D449N	NM_018849	NP_061337	P21439	MDR3_HUMAN			12	1421	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		449			ABC transporter 1.|Cytoplasmic (By similarity).		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	c.1345G>A	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	c	11.83	1.754626	0.31046	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.94000	-3.33;-3.33;-3.33;-3.33;-3.33	4.88	-2.52	0.06346	ATPase, AAA+ type, core (1);ABC transporter-like (2);	1.353820	0.04531	N	0.386272	D	0.87787	0.6265	L	0.33710	1.025	0.09310	N	1	B;B;B	0.19706	0.017;0.03;0.038	B;B;B	0.25759	0.026;0.038;0.063	T	0.74309	-0.3707	10	0.18276	T	0.48	-0.219	7.6992	0.28613	0.0:0.1726:0.2039:0.6234	.	449;449;449	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	N	449	ENSP00000352135:D449N;ENSP00000351172:D449N;ENSP00000265723:D449N;ENSP00000392983:D449N;ENSP00000437465:D449N	ENSP00000265723:D449N	D	-	1	0	ABCB4	86910582	0.000000	0.05858	0.016000	0.15963	0.767000	0.43475	-0.351000	0.07711	-0.142000	0.11354	0.467000	0.42956	GAT		0.507	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1		NM_000443		83	268	0	0	0	0.01441	0	83	268		
STAG3	10734	broad.mit.edu	37	7	99783835	99783835	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr7:99783835G>C	ENST00000426455.1	+	5	756	c.349G>C	c.(349-351)Gag>Cag	p.E117Q	STAG3_ENST00000394018.2_Intron|STAG3_ENST00000317296.5_Missense_Mutation_p.E117Q	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	117					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTTGGTAGATGAGTGGCTGGA	0.403																																						uc003utx.1		NaN																	0				ovary(4)|skin(2)|lung(1)|kidney(1)	8						c.(349-351)GAG>CAG		stromal antigen 3							185.0	187.0	186.0					7																	99783835		2203	4300	6503	SO:0001583	missense	10734				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	g.chr7:99783835G>C	AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.349G>C	7.37:g.99783835G>C	ENSP00000400359:p.Glu117Gln					STAG3_uc010lgs.1_5'UTR|STAG3_uc011kjk.1_Intron	p.E117Q	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN			5	504	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		117					A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Missense_Mutation	SNP	ENST00000426455.1	37	c.349G>C	CCDS34703.1	.	.	.	.	.	.	.	.	.	.	.	19.28	3.797566	0.70567	.	.	ENSG00000066923	ENST00000426455;ENST00000416412;ENST00000339784;ENST00000317296	T;T	0.26067	1.76;1.76	5.55	5.55	0.83447	.	0.148412	0.30446	N	0.009611	T	0.33089	0.0851	M	0.62266	1.93	0.58432	D	0.99999	B	0.27765	0.188	B	0.32980	0.156	T	0.06320	-1.0833	10	0.44086	T	0.13	-14.3441	16.9939	0.86361	0.0:0.0:1.0:0.0	.	117	Q9UJ98	STAG3_HUMAN	Q	117	ENSP00000400359:E117Q;ENSP00000319318:E117Q	ENSP00000319318:E117Q	E	+	1	0	STAG3	99621771	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.609000	0.98334	2.603000	0.88011	0.555000	0.69702	GAG		0.403	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2		NM_012447		30	197	0	0	0	0.017118	0	30	197		
CDHR3	222256	broad.mit.edu	37	7	105672957	105672957	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr7:105672957C>T	ENST00000317716.9	+	19	2552	c.2472C>T	c.(2470-2472)gtC>gtT	p.V824V	CDHR3_ENST00000542731.1_Silent_p.V824V|CDHR3_ENST00000478080.1_Silent_p.V736V|CDHR3_ENST00000343407.5_3'UTR	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	824					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						CACGCAGAGTCACTGCTGGGG	0.532																																						uc003vdl.3		NaN																	0				ovary(1)	1						c.(2470-2472)GTC>GTT		hypothetical protein LOC222256 precursor							71.0	74.0	73.0					7																	105672957		2057	4209	6266	SO:0001819	synonymous_variant	222256				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr7:105672957C>T	AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536		"""Cadherins / Cadherin-related"""	26308	protein-coding gene	gene with protein product		615610					Standard	NM_152750		Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.2472C>T	7.37:g.105672957C>T						CDHR3_uc003vdk.2_3'UTR|CDHR3_uc003vdm.3_Silent_p.V811V|CDHR3_uc011klt.1_Silent_p.V736V|CDHR3_uc003vdn.2_3'UTR	p.V824V	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN			19	2580	+			824			Cytoplasmic (Potential).		Q8TCI7	Silent	SNP	ENST00000317716.9	37	c.2472C>T	CCDS47684.1																																																																																				0.532	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349025.2		NM_152750		16	22	0	0	0	0.006122	0	16	22		
SLC26A4	5172	broad.mit.edu	37	7	107315425	107315425	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr7:107315425G>A	ENST00000265715.3	+	6	860	c.636G>A	c.(634-636)gtG>gtA	p.V212V		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	212					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GATTCATAGTGAGGTACTTGG	0.413									Pendred syndrome																													uc003vep.2		NaN																	0				ovary(3)|central_nervous_system(2)|skin(2)	7						c.(634-636)GTG>GTA		pendrin							273.0	250.0	258.0					7																	107315425		2203	4300	6503	SO:0001819	synonymous_variant	5172	Pendred_syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107315425G>A	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.636G>A	7.37:g.107315425G>A							p.V212V	NM_000441	NP_000432	O43511	S26A4_HUMAN			6	860	+			212			Helical; (Potential).		B7Z266|O43170	Silent	SNP	ENST00000265715.3	37	c.636G>A	CCDS5746.1																																																																																				0.413	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1		NM_000441		57	181	0	0	0	0.01441	0	57	181		
PPP1R3A	5506	broad.mit.edu	37	7	113518587	113518587	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr7:113518587C>T	ENST00000284601.3	-	4	2628	c.2560G>A	c.(2560-2562)Gaa>Aaa	p.E854K		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	854					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTTTGATATTCTGTAATGACC	0.378																																						uc010ljy.1		NaN																	0				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						c.(2560-2562)GAA>AAA		protein phosphatase 1, regulatory (inhibitor)							174.0	165.0	168.0					7																	113518587		2203	4300	6503	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113518587C>T	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.2560G>A	7.37:g.113518587C>T	ENSP00000284601:p.Glu854Lys						p.E854K	NM_002711	NP_002702	Q16821	PPR3A_HUMAN			4	2591	-			854					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.2560G>A	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	0.173	-1.069968	0.01918	.	.	ENSG00000154415	ENST00000284601	T	0.16597	2.33	5.92	0.398	0.16319	.	1.479770	0.03953	N	0.288807	T	0.12518	0.0304	L	0.29908	0.895	0.09310	N	1	B	0.27068	0.167	B	0.19148	0.024	T	0.28004	-1.0057	10	0.31617	T	0.26	-0.5361	6.3247	0.21237	0.1235:0.3609:0.0:0.5157	.	854	Q16821	PPR3A_HUMAN	K	854	ENSP00000284601:E854K	ENSP00000284601:E854K	E	-	1	0	PPP1R3A	113305823	0.000000	0.05858	0.086000	0.20670	0.011000	0.07611	0.121000	0.15667	0.047000	0.15862	-0.355000	0.07637	GAA		0.378	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1		NM_002711		38	150	0	0	0	0.025465	0	38	150		
ZNF777	27153	broad.mit.edu	37	7	149152502	149152502	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr7:149152502C>T	ENST00000247930.4	-	2	935	c.612G>A	c.(610-612)atG>atA	p.M204I		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	204					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TCAGTAGCCTCATGGCCTGGG	0.602																																						uc003wfv.2		NaN																	0				skin(1)	1						c.(610-612)ATG>ATA		zinc finger protein 777							71.0	79.0	76.0					7																	149152502		2196	4298	6494	SO:0001583	missense	27153				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149152502C>T	AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"""Zinc fingers, C2H2-type"", ""-"""	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.612G>A	7.37:g.149152502C>T	ENSP00000247930:p.Met204Ile						p.M204I	NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		2	775	-	Melanoma(164;0.165)		204					Q8N2R2|Q8N659	Missense_Mutation	SNP	ENST00000247930.4	37	c.612G>A	CCDS43675.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937535	0.73557	.	.	ENSG00000196453	ENST00000247930	T	0.21932	1.98	4.93	4.93	0.64822	.	0.000000	0.53938	D	0.000046	T	0.10809	0.0264	N	0.03608	-0.345	0.33914	D	0.640056	B	0.28850	0.225	B	0.27076	0.076	T	0.16217	-1.0410	10	0.62326	D	0.03	-27.0029	13.6684	0.62409	0.0:1.0:0.0:0.0	.	204	Q9ULD5-2	.	I	204	ENSP00000247930:M204I	ENSP00000247930:M204I	M	-	3	0	ZNF777	148783435	0.746000	0.28272	1.000000	0.80357	0.999000	0.98932	0.793000	0.26944	2.286000	0.76751	0.655000	0.94253	ATG		0.602	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1		NM_015694		27	102	0	0	0	0.024334	0	27	102		
PTPRN2	5799	broad.mit.edu	37	7	157926662	157926662	+	Silent	SNP	G	G	C	rs555402048		TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr7:157926662G>C	ENST00000389418.4	-	9	1272	c.1263C>G	c.(1261-1263)ctC>ctG	p.L421L	PTPRN2_ENST00000389416.4_Silent_p.L404L|PTPRN2_ENST00000404321.2_Silent_p.L444L|PTPRN2_ENST00000389413.3_Silent_p.L421L|PTPRN2_ENST00000409483.1_Silent_p.L383L	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	421					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TCTCCATGTCGAGGGGCCTTG	0.592													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17303	0.0		0.0	False		,,,				2504	0.0					uc003wno.2		NaN																	0				ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7						c.(1261-1263)CTC>CTG		protein tyrosine phosphatase, receptor type, N							56.0	60.0	59.0					7																	157926662		2203	4300	6503	SO:0001819	synonymous_variant	5799					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:157926662G>C	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.1263C>G	7.37:g.157926662G>C						PTPRN2_uc003wnp.2_Silent_p.L404L|PTPRN2_uc003wnq.2_Silent_p.L421L|PTPRN2_uc003wnr.2_Silent_p.L383L|PTPRN2_uc011kwa.1_Silent_p.L444L	p.L421L	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)	9	1384	-	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	421			Extracellular (Potential).		E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Silent	SNP	ENST00000389418.4	37	c.1263C>G	CCDS5947.1																																																																																				0.592	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1				31	81	0	0	0	0.010818	0	31	81		
WDR60	55112	broad.mit.edu	37	7	158718985	158718985	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr7:158718985C>G	ENST00000407559.3	+	18	2523	c.2365C>G	c.(2365-2367)Caa>Gaa	p.Q789E		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	789					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		CTTTTCTACTCAAGAAGGTAC	0.393																																						uc003woe.3		NaN																	0				ovary(2)|breast(1)|central_nervous_system(1)	4						c.(2365-2367)CAA>GAA		WD repeat domain 60							60.0	57.0	58.0					7																	158718985		1869	4120	5989	SO:0001583	missense	55112							g.chr7:158718985C>G		CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"""WD repeat domain containing"""	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.2365C>G	7.37:g.158718985C>G	ENSP00000384290:p.Gln789Glu					WDR60_uc010lqv.2_RNA|WDR60_uc010lqw.2_Missense_Mutation_p.Q421E	p.Q789E	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)	18	2523	+	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	789			WD 2.		Q9NW58	Missense_Mutation	SNP	ENST00000407559.3	37	c.2365C>G	CCDS47757.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.304490	0.81136	.	.	ENSG00000126870	ENST00000407559	T	0.77358	-1.09	5.84	5.84	0.93424	WD40 repeat-like-containing domain (1);	0.306883	0.31542	N	0.007478	T	0.74550	0.3731	M	0.64997	1.995	0.41312	D	0.987111	B;B	0.34181	0.002;0.44	B;B	0.30029	0.005;0.11	T	0.72388	-0.4309	10	0.28530	T	0.3	-17.2332	17.2906	0.87154	0.0:1.0:0.0:0.0	.	272;789	A4D230;Q8WVS4	.;WDR60_HUMAN	E	789	ENSP00000384290:Q789E	ENSP00000384290:Q789E	Q	+	1	0	WDR60	158411746	0.687000	0.27671	0.147000	0.22382	0.110000	0.19582	2.473000	0.45145	2.765000	0.95021	0.655000	0.94253	CAA		0.393	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322668.1		NM_018051		3	18	0	0	0	0.004672	0	3	18		
MYOM2	9172	broad.mit.edu	37	8	2057272	2057272	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr8:2057272G>A	ENST00000262113.4	+	25	3271	c.3130G>A	c.(3130-3132)Gat>Aat	p.D1044N	MYOM2_ENST00000523438.1_Missense_Mutation_p.D469N	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1044					muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CTTATCACCAGATGCCAGCTA	0.463																																						uc003wpx.3		NaN																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(3130-3132)GAT>AAT		myomesin 2							91.0	87.0	88.0					8																	2057272		2203	4300	6503	SO:0001583	missense	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2057272G>A		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.3130G>A	8.37:g.2057272G>A	ENSP00000262113:p.Asp1044Asn					MYOM2_uc011kwi.1_Missense_Mutation_p.D469N	p.D1044N	NM_003970	NP_003961	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	25	3268	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	1044					Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	c.3130G>A	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	g	0.022	-1.415082	0.01145	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.42131	0.98;0.98	5.77	5.77	0.91146	.	0.323925	0.35970	N	0.002877	T	0.21718	0.0523	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.13407	0.009	T	0.08743	-1.0707	10	0.02654	T	1	.	15.1952	0.73081	0.069:0.0:0.931:0.0	.	1044	P54296	MYOM2_HUMAN	N	1044;469	ENSP00000262113:D1044N;ENSP00000428396:D469N	ENSP00000262113:D1044N	D	+	1	0	MYOM2	2044679	0.007000	0.16637	0.081000	0.20488	0.138000	0.21146	0.880000	0.28159	2.727000	0.93392	0.645000	0.84053	GAT		0.463	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1		NM_003970		37	45	0	0	0	0.021022	0	37	45		
SPAG11B	10407	broad.mit.edu	37	8	7308402	7308402	+	Nonstop_Mutation	SNP	T	T	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr8:7308402T>C	ENST00000297498.2	-	4	477	c.311A>G	c.(310-312)tAg>tGg	p.*104W	SPAG11B_ENST00000361111.2_Intron|SPAG11B_ENST00000359758.5_Missense_Mutation_p.R79G|SPAG11B_ENST00000398462.2_Missense_Mutation_p.R79G|SPAG11B_ENST00000458665.1_Missense_Mutation_p.R26G|SPAG11B_ENST00000528168.1_Nonstop_Mutation_p.*51W	NM_016512.3	NP_057596.1	Q08648	SG11B_HUMAN	sperm associated antigen 11B	0					spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				large_intestine(2)|lung(3)|urinary_tract(1)	6				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		ATGGTATTTCTAATTCCCGGT	0.458																																						uc003wrk.2		NaN																	0					0						c.(310-312)TAG>TGG		sperm associated antigen 11B isoform A							93.0	94.0	94.0					8																	7308402		2087	4206	6293	SO:0001578	stop_lost	10407				spermatogenesis	extracellular region		g.chr8:7308402T>C	AF168616	CCDS5964.1, CCDS5965.1, CCDS5966.1, CCDS5967.1, CCDS47774.1	8p23.1	2014-02-21	2007-03-15	2007-03-15	ENSG00000164871	ENSG00000164871			14534	protein-coding gene	gene with protein product	"""epididymal protein 2B"""	606560				8167223, 1693137	Standard	NM_058200		Approved	HE2, EP2, EP2C, EP2D, EDDM2B	uc003wrl.3	Q08648	OTTHUMG00000129219	ENST00000297498.2:c.311A>G	8.37:g.7308402T>C	ENSP00000297498:p.*104Serext*20					SPAG11B_uc003wrg.1_Missense_Mutation_p.R79G|SPAG11B_uc003wrh.1_Intron|SPAG11B_uc003wri.2_Nonstop_Mutation_p.*51W|SPAG11B_uc003wrj.2_Missense_Mutation_p.R26G|SPAG11B_uc003wrl.2_Missense_Mutation_p.R79G	p.*104W	NM_016512	NP_057596	Q08648	SG11B_HUMAN		COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)	4	478	-			104					E9PFH0|Q546A0|Q6ZYB2|Q9H4P8|Q9H4P9|Q9H4Q0|Q9H4Q1|Q9H4Q2|Q9NRT3|Q9NRV4|Q9NRV5|Q9NRV6|Q9NRV7|Q9NRV8	Nonstop_Mutation	SNP	ENST00000297498.2	37	c.311A>G	CCDS5966.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.676|4.676	0.125630|0.125630	0.08931|0.08931	.|.	.|.	ENSG00000164871|ENSG00000164871	ENST00000359758;ENST00000458665;ENST00000398462|ENST00000297498;ENST00000528168	.|.	.|.	.|.	3.44|3.44	0.84|0.84	0.18912|0.18912	.|.	.|.	.|.	.|.	.|.	T|.	0.54581|.	0.1867|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D;P;B|.	0.69078|.	0.997;0.945;0.421|.	P;P;B|.	0.60345|.	0.873;0.69;0.073|.	T|.	0.44967|.	-0.9293|.	7|.	0.72032|.	D|.	0.01|.	-13.617|-13.617	7.5459|7.5459	0.27766|0.27766	0.0:0.0:0.4406:0.5594|0.0:0.0:0.4406:0.5594	.|.	79;26;79|.	A8MZA0;E9PFH0;E9PAK7|.	.;.;.|.	G|W	79;26;79|104;51	.|.	ENSP00000352797:R79G|.	R|X	-|-	1|2	2|0	SPAG11B|SPAG11B	7295812|7295812	0.972000|0.972000	0.33761|0.33761	0.972000|0.972000	0.41901|0.41901	0.472000|0.472000	0.32918|0.32918	1.433000|1.433000	0.34947|0.34947	0.169000|0.169000	0.19679|0.19679	0.373000|0.373000	0.22412|0.22412	AGA|TAG		0.458	SPAG11B-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251390.2		NM_058202, NM_058200, NM_058201, NM_016512, NM_058203, NM_058206, NM_058207		22	64	0	0	0	0.014323	0	22	64		
SGK223	157285	broad.mit.edu	37	8	8197120	8197120	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr8:8197120C>G	ENST00000520004.1	-	4	2452	c.2188G>C	c.(2188-2190)Gat>Cat	p.D730H	SGK223_ENST00000330777.4_Missense_Mutation_p.D730H			Q86YV5	SG223_HUMAN		732							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										TTTTCCAAATCAGAGCTGCTC	0.498																																					GBM(34;731 755 10259 33573 33867)	uc003wsh.3		NaN																	0					0						c.(2188-2190)GAT>CAT		pragmin							77.0	83.0	81.0					8																	8197120		1927	4136	6063	SO:0001583	missense	157285						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8197120C>G																												ENST00000520004.1:c.2188G>C	8.37:g.8197120C>G	ENSP00000428054:p.Asp730His						p.D730H	NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN			3	2188	-			730					Q8N3N5	Missense_Mutation	SNP	ENST00000520004.1	37	c.2188G>C	CCDS43706.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.950954	0.73787	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.61510	0.1;0.1	5.71	4.82	0.62117	.	0.391114	0.23610	N	0.046347	T	0.63885	0.2549	L	0.27053	0.805	0.37704	D	0.924337	D	0.89917	1.0	D	0.71184	0.972	T	0.69347	-0.5169	10	0.72032	D	0.01	.	14.856	0.70338	0.0:0.9273:0.0:0.0727	.	730	Q86YV5	SG223_HUMAN	H	730	ENSP00000330930:D730H;ENSP00000428054:D730H	ENSP00000330930:D730H	D	-	1	0	AC068353.1	8234530	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.677000	0.54619	2.854000	0.98071	0.655000	0.94253	GAT		0.498	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1				32	56	0	0	0	0.015359	0	32	56		
PRKDC	5591	broad.mit.edu	37	8	48805803	48805803	+	Silent	SNP	G	G	A	rs200729621		TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr8:48805803G>A	ENST00000314191.2	-	32	3797	c.3741C>T	c.(3739-3741)ttC>ttT	p.F1247F	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.F1247F	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1248					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CCTGCAGGCTGAATGGCCCCC	0.617								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.2		NaN																	0				lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34						c.(3742-3744)TTC>TTT	NHEJ	protein kinase, DNA-activated, catalytic							28.0	30.0	29.0					8																	48805803		1959	4143	6102	SO:0001819	synonymous_variant	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48805803G>A		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.3741C>T	8.37:g.48805803G>A						PRKDC_uc003xqj.2_Silent_p.F1248F|PRKDC_uc011ldh.1_Intron	p.F1248F	NM_006904	NP_008835	P78527	PRKDC_HUMAN			32	3801	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	1248					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	ENST00000314191.2	37	c.3744C>T																																																																																					0.617	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001081640		5	26	0	0	0	0.014758	0	5	26		
PXDNL	137902	broad.mit.edu	37	8	52339252	52339252	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr8:52339252G>A	ENST00000356297.4	-	13	1692	c.1592C>T	c.(1591-1593)tCa>tTa	p.S531L	PXDNL_ENST00000543296.1_Missense_Mutation_p.S531L	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	531	Ig-like C2-type 4.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AGCATGACATGAAATGTTTAT	0.358																																						uc003xqu.3		NaN																	0				ovary(1)|pancreas(1)	2						c.(1591-1593)TCA>TTA		peroxidasin homolog-like precursor							134.0	120.0	124.0					8																	52339252		1862	4110	5972	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52339252G>A		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.1592C>T	8.37:g.52339252G>A	ENSP00000348645:p.Ser531Leu						p.S531L	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			13	1693	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	531			Ig-like C2-type 4.		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.1592C>T	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	G	5.739	0.320730	0.10845	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.68025	-0.3;-0.3	4.18	2.23	0.28157	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.50599	0.1625	N	0.20845	0.615	0.20307	N	0.999911	B	0.22346	0.068	B	0.29524	0.103	T	0.47611	-0.9104	9	0.72032	D	0.01	.	6.3198	0.21211	0.2639:0.0:0.7361:0.0	.	531	A1KZ92	PXDNL_HUMAN	L	531	ENSP00000348645:S531L;ENSP00000444865:S531L	ENSP00000348645:S531L	S	-	2	0	PXDNL	52501805	0.986000	0.35501	0.001000	0.08648	0.062000	0.15995	3.163000	0.50763	0.267000	0.21916	-0.355000	0.07637	TCA		0.358	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1		NM_144651		5	31	0	0	0	0.021553	0	5	31		
CLVS1	157807	broad.mit.edu	37	8	62371083	62371083	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr8:62371083C>T	ENST00000519846.1	+	6	1431	c.959C>T	c.(958-960)tCa>tTa	p.S320L	CLVS1_ENST00000325897.4_Missense_Mutation_p.S320L|CLVS1_ENST00000518592.1_Missense_Mutation_p.S41L			Q8IUQ0	CLVS1_HUMAN	clavesin 1	320					lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						AGAGAATGCTCACCCAAGCTG	0.443																																						uc003xuh.2		NaN																	0				skin(4)|ovary(1)	5						c.(958-960)TCA>TTA		retinaldehyde binding protein 1-like 1							46.0	40.0	42.0					8																	62371083		2203	4300	6503	SO:0001583	missense	157807				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr8:62371083C>T	AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"""retinaldehyde binding protein 1-like 1"""	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.959C>T	8.37:g.62371083C>T	ENSP00000428402:p.Ser320Leu					CLVS1_uc003xui.2_RNA|CLVS1_uc010lyp.2_Intron	p.S320L	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN			5	1283	+			320					B2R7M5|C8UZT3|Q8NB32	Missense_Mutation	SNP	ENST00000519846.1	37	c.959C>T	CCDS6176.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.752645	0.89753	.	.	ENSG00000177182	ENST00000519846;ENST00000518592;ENST00000325897;ENST00000520712	T;T	0.80123	-1.34;-1.34	5.33	5.33	0.75918	.	0.665589	0.15835	N	0.242301	D	0.84884	0.5571	L	0.27053	0.805	0.58432	D	0.999993	D	0.63880	0.993	D	0.72338	0.977	D	0.85306	0.1076	10	0.56958	D	0.05	-19.5405	19.2171	0.93782	0.0:1.0:0.0:0.0	.	320	Q8IUQ0	CLVS1_HUMAN	L	320;41;320;41	ENSP00000428402:S320L;ENSP00000325506:S320L	ENSP00000325506:S320L	S	+	2	0	CLVS1	62533637	0.986000	0.35501	0.998000	0.56505	0.914000	0.54420	4.277000	0.58939	2.771000	0.95319	0.650000	0.86243	TCA		0.443	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378323.1		NM_173519		14	32	0	0	0	0.004007	0	14	32		
TRIM55	84675	broad.mit.edu	37	8	67047319	67047319	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr8:67047319C>T	ENST00000315962.4	+	3	809	c.436C>T	c.(436-438)Ctg>Ttg	p.L146L	TRIM55_ENST00000353317.5_Silent_p.L146L|TRIM55_ENST00000350034.4_Silent_p.L146L|TRIM55_ENST00000276573.7_Silent_p.L146L	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	146					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			CACCTGCTCTCTGTGCAAGGT	0.547																																						uc003xvv.2		NaN																	0				skin(3)|ovary(1)|central_nervous_system(1)	5						c.(436-438)CTG>TTG		tripartite motif-containing 55 isoform 1							198.0	161.0	174.0					8																	67047319		2203	4300	6503	SO:0001819	synonymous_variant	84675					cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding	g.chr8:67047319C>T	AJ291712	CCDS6184.1, CCDS6185.1, CCDS6186.1, CCDS6187.1	8q13.1	2013-01-09	2011-01-25	2004-11-17	ENSG00000147573	ENSG00000147573		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	14215	protein-coding gene	gene with protein product		606469	"""ring finger protein 29"", ""tripartite motif-containing 55"""	RNF29		11243782	Standard	NM_033058		Approved	MURF-2	uc003xvv.3	Q9BYV6	OTTHUMG00000164473	ENST00000315962.4:c.436C>T	8.37:g.67047319C>T						TRIM55_uc003xvu.2_Silent_p.L146L|TRIM55_uc003xvw.2_Silent_p.L146L|TRIM55_uc003xvx.2_Silent_p.L146L	p.L146L	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		3	662	+		Lung NSC(129;0.138)|all_lung(136;0.221)	146					B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Silent	SNP	ENST00000315962.4	37	c.436C>T	CCDS6184.1																																																																																				0.547	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378921.1		NM_184085		17	126	0	0	0	0.00499	0	17	126		
NCOA2	10499	broad.mit.edu	37	8	71053436	71053436	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr8:71053436G>C	ENST00000452400.2	-	14	3192	c.3011C>G	c.(3010-3012)tCt>tGt	p.S1004C	NCOA2_ENST00000267974.4_Missense_Mutation_p.S92C	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1004					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	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)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			CATGACCTGAGACTGAAGCGT	0.498			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																	uc003xyn.1		NaN		Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	RUNXBP2		AML	PAX3/NCOA2(4)	0				lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16						c.(3010-3012)TCT>TGT		nuclear receptor coactivator 2							51.0	53.0	53.0					8																	71053436		1983	4173	6156	SO:0001583	missense	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71053436G>C	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.3011C>G	8.37:g.71053436G>C	ENSP00000399968:p.Ser1004Cys					NCOA2_uc011lfb.1_Missense_Mutation_p.S92C	p.S1004C	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		14	3173	-	Breast(64;0.201)		1004					Q14CD2	Missense_Mutation	SNP	ENST00000452400.2	37	c.3011C>G	CCDS47872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.988820|3.988820	0.74589|0.74589	.|.	.|.	ENSG00000140396|ENSG00000140396	ENST00000518363|ENST00000452400;ENST00000267974	.|T;T	.|0.07800	.|4.71;3.16	6.05|6.05	6.05|6.05	0.98169|0.98169	.|.	.|0.216499	.|0.50627	.|D	.|0.000117	T|T	0.22282|0.22282	0.0537|0.0537	M|M	0.67953|0.67953	2.075|2.075	0.52501|0.52501	D|D	0.999956|0.999956	.|D;P	.|0.53462	.|0.96;0.864	.|P;B	.|0.51487	.|0.671;0.246	T|T	0.00017|0.00017	-1.2375|-1.2375	5|10	.|0.56958	.|D	.|0.05	.|.	20.6013|20.6013	0.99457|0.99457	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|92;1004	.|F8WAJ2;Q15596	.|.;NCOA2_HUMAN	V|C	105|1004;92	.|ENSP00000399968:S1004C;ENSP00000267974:S92C	.|ENSP00000267974:S92C	L|S	-|-	1|2	0|0	NCOA2|NCOA2	71215990|71215990	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.752000|8.752000	0.91632|0.91632	2.878000|2.878000	0.98634|0.98634	0.650000|0.650000	0.86243|0.86243	CTC|TCT		0.498	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1				6	55	0	0	0	0.021553	0	6	55		
ZFHX4	79776	broad.mit.edu	37	8	77766597	77766597	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr8:77766597G>A	ENST00000521891.2	+	10	7888	c.7440G>A	c.(7438-7440)acG>acA	p.T2480T	ZFHX4_ENST00000455469.2_Silent_p.T2435T|ZFHX4_ENST00000050961.6_Silent_p.T2435T|ZFHX4_ENST00000518282.1_Silent_p.T2454T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2435					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTTCCATGACGTCTCTCCAGA	0.517										HNSCC(33;0.089)																												uc003yav.2		NaN																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(7303-7305)ACG>ACA		zinc finger homeodomain 4							126.0	159.0	148.0					8																	77766597		2067	4199	6266	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77766597G>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7440G>A	8.37:g.77766597G>A		HNSCC(33;0.089)				ZFHX4_uc003yau.1_Silent_p.T2480T|ZFHX4_uc003yaw.1_Silent_p.T2435T	p.T2435T	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	7692	+			2435					G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.7305G>A	CCDS47878.2																																																																																				0.517	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2		NM_024721		117	22	0	0	0	0.01441	0	117	22		
CSMD3	114788	broad.mit.edu	37	8	113318315	113318315	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr8:113318315C>A	ENST00000297405.5	-	51	8236	c.7992G>T	c.(7990-7992)ttG>ttT	p.L2664F	CSMD3_ENST00000352409.3_Missense_Mutation_p.L2594F|CSMD3_ENST00000455883.2_Missense_Mutation_p.L2560F|CSMD3_ENST00000343508.3_Missense_Mutation_p.L2624F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2664	Sushi 15. {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						CTTTGGATGACAATCGATATC	0.418										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.(7990-7992)TTG>TTT		CUB and Sushi multiple domains 3 isoform 1							210.0	190.0	196.0					8																	113318315		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113318315C>A	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.7992G>T	8.37:g.113318315C>A	ENSP00000297405:p.Leu2664Phe	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.L1866F|CSMD3_uc003ynt.2_Missense_Mutation_p.L2624F|CSMD3_uc011lhx.1_Missense_Mutation_p.L2560F	p.L2664F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			51	8151	-			2664			Extracellular (Potential).|Sushi 15.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.7992G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.118612	0.56505	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51;-0.51	5.29	-1.78	0.07957	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.53938	D	0.000058	T	0.81178	0.4768	M	0.93062	3.375	0.40262	D	0.978186	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.75303	-0.3365	10	0.56958	D	0.05	.	0.9359	0.01344	0.2269:0.3133:0.1116:0.3482	.	2560;2664;2624	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	F	2624;2664;1934;2560;2594	ENSP00000345799:L2624F;ENSP00000297405:L2664F;ENSP00000341558:L1934F;ENSP00000412263:L2560F;ENSP00000343124:L2594F	ENSP00000297405:L2664F	L	-	3	2	CSMD3	113387491	0.686000	0.27661	0.997000	0.53966	0.670000	0.39368	-0.197000	0.09518	-0.013000	0.14199	-0.262000	0.10625	TTG		0.418	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1		NM_052900		33	106	1	0	5.8336e-16	0.015359	6.36273e-16	33	106		
TTC39B	158219	broad.mit.edu	37	9	15188001	15188001	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr9:15188001C>G	ENST00000512701.2	-	14	1399	c.1363G>C	c.(1363-1365)Gat>Cat	p.D455H	TTC39B_ENST00000355694.2_Missense_Mutation_p.D389H|TTC39B_ENST00000380850.4_Missense_Mutation_p.D442H|TTC39B_ENST00000297615.5_Missense_Mutation_p.D386H|TTC39B_ENST00000507285.1_Missense_Mutation_p.D290H|TTC39B_ENST00000507993.1_Missense_Mutation_p.D290H			Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	455										NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						CAAAGCAGATCTGAATAGTAA	0.373																																						uc003zlr.1		NaN																	0				ovary(1)	1						c.(1165-1167)GAT>CAT		tetratricopeptide repeat domain 39B							151.0	142.0	145.0					9																	15188001		2203	4300	6503	SO:0001583	missense	158219						binding	g.chr9:15188001C>G	AK091187	CCDS6477.1, CCDS6477.2, CCDS55294.1, CCDS55295.1, CCDS55296.1	9p22.2	2013-01-11	2008-06-23	2008-06-23	ENSG00000155158	ENSG00000155158		"""Tetratricopeptide (TTC) repeat domain containing"""	23704	protein-coding gene	gene with protein product		613574	"""chromosome 9 open reading frame 52"""	C9orf52			Standard	NM_001168339		Approved	FLJ33868	uc003zlr.2	Q5VTQ0	OTTHUMG00000019581	ENST00000512701.2:c.1363G>C	9.37:g.15188001C>G	ENSP00000422496:p.Asp455His					TTC39B_uc003zlq.1_Missense_Mutation_p.D358H|TTC39B_uc011lmp.1_Missense_Mutation_p.D290H|TTC39B_uc010mie.1_Missense_Mutation_p.D387H|TTC39B_uc011lmq.1_Missense_Mutation_p.D376H|TTC39B_uc011lmr.1_Missense_Mutation_p.D320H|TTC39B_uc010mif.1_Missense_Mutation_p.D389H|TTC39B_uc003zls.1_Missense_Mutation_p.D290H|TTC39B_uc010mig.1_Missense_Mutation_p.D358H|TTC39B_uc003zlp.1_5'UTR	p.D389H	NM_152574	NP_689787	Q5VTQ0	TT39B_HUMAN			14	1286	-			389					A5PLN1|B4DQ10|B4DQX4|B4DW93|Q8IVR7|Q8IXZ6|Q8N267	Missense_Mutation	SNP	ENST00000512701.2	37	c.1165G>C	CCDS6477.2	.	.	.	.	.	.	.	.	.	.	C	17.23	3.336077	0.60963	.	.	ENSG00000155158	ENST00000380850;ENST00000297615;ENST00000355694;ENST00000512701;ENST00000507285;ENST00000507993	T;T;T;T;T;T	0.51071	0.9;1.09;0.72;0.72;1.09;1.09	5.02	5.02	0.67125	.	0.055904	0.64402	D	0.000002	T	0.68897	0.3051	M	0.72353	2.195	0.80722	D	1	D;D;D;P;P	0.89917	1.0;1.0;1.0;0.577;0.754	D;D;D;P;P	0.87578	0.995;0.998;0.993;0.566;0.665	T	0.69540	-0.5118	10	0.46703	T	0.11	-19.4943	18.6967	0.91603	0.0:1.0:0.0:0.0	.	386;442;455;387;389	F5H705;E9PAQ9;E9PE60;A5PLN1;Q5VTQ0	.;.;.;.;TT39B_HUMAN	H	442;386;389;455;290;290	ENSP00000370231:D442H;ENSP00000297615:D386H;ENSP00000347920:D389H;ENSP00000422496:D455H;ENSP00000426539:D290H;ENSP00000423392:D290H	ENSP00000297615:D386H	D	-	1	0	TTC39B	15178001	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.194000	0.51005	2.490000	0.84030	0.460000	0.39030	GAT		0.373	TTC39B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051758.3		NM_152574		25	100	0	0	0	0.008361	0	25	100		
BNC2	54796	broad.mit.edu	37	9	16437085	16437085	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr9:16437085G>A	ENST00000380672.4	-	6	1164	c.1107C>T	c.(1105-1107)tcC>tcT	p.S369S	BNC2_ENST00000380666.2_Silent_p.S369S|BNC2_ENST00000380667.2_Silent_p.S302S|BNC2_ENST00000545497.1_Silent_p.S274S	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GAGAAACTTCGGATTCGCTGC	0.483																																						uc003zml.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1105-1107)TCC>TCT		basonuclin 2							103.0	105.0	104.0					9																	16437085		2203	4300	6503	SO:0001819	synonymous_variant	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16437085G>A	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.1107C>T	9.37:g.16437085G>A						BNC2_uc011lmw.1_Silent_p.S274S|BNC2_uc003zmm.2_Silent_p.S327S|BNC2_uc003zmq.1_Silent_p.S383S|BNC2_uc003zmr.1_Silent_p.S406S|BNC2_uc003zmp.1_Silent_p.S397S|BNC2_uc010mij.1_Silent_p.S291S|BNC2_uc011lmv.1_Silent_p.S195S|BNC2_uc003zmo.1_Silent_p.S291S|BNC2_uc003zmj.2_Silent_p.S134S|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Silent_p.S134S|BNC2_uc003zmn.1_Silent_p.S134S	p.S369S	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	6	1247	-			369						Silent	SNP	ENST00000380672.4	37	c.1107C>T	CCDS6482.2																																																																																				0.483	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5		NM_017637		14	138	0	0	0	0.024245	0	14	138		
MLLT3	4300	broad.mit.edu	37	9	20414109	20414109	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr9:20414109C>G	ENST00000380338.4	-	5	1021	c.735G>C	c.(733-735)gaG>gaC	p.E245D	MIR4473_ENST00000583731.1_RNA|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Missense_Mutation_p.E242D	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	245					anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		GAACTATTTTCTCTTCTTTCA	0.388			T	MLL	ALL																																	uc003zoe.2		NaN		Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		0				lung(2)|ovary(1)	3						c.(733-735)GAG>GAC		myeloid/lymphoid or mixed-lineage leukemia							316.0	325.0	322.0					9																	20414109		2203	4300	6503	SO:0001583	missense	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414109C>G	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.735G>C	9.37:g.20414109C>G	ENSP00000369695:p.Glu245Asp					MLLT3_uc011lne.1_Missense_Mutation_p.E213D|MLLT3_uc011lnf.1_Missense_Mutation_p.E242D|MLLT3_uc003zof.2_Missense_Mutation_p.E46D	p.E245D	NM_004529	NP_004520	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	994	-			245					B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Missense_Mutation	SNP	ENST00000380338.4	37	c.735G>C	CCDS6494.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.612281	0.28712	.	.	ENSG00000171843	ENST00000380338;ENST00000429426;ENST00000540751	.	.	.	5.69	2.2	0.27929	.	0.221015	0.47093	D	0.000251	T	0.43787	0.1263	L	0.45051	1.395	0.80722	D	1	B;B	0.14012	0.009;0.009	B;B	0.12156	0.007;0.007	T	0.16041	-1.0416	9	0.25751	T	0.34	-16.2762	7.4421	0.27190	0.0:0.2553:0.0:0.7447	.	242;245	B7Z755;P42568	.;AF9_HUMAN	D	245;242;284	.	ENSP00000369695:E245D	E	-	3	2	MLLT3	20404109	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	0.801000	0.27055	0.151000	0.19162	0.591000	0.81541	GAG		0.388	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1		NM_004529		65	210	0	0	0	0.01441	0	65	210		
MSMP	692094	broad.mit.edu	37	9	35754000	35754000	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr9:35754000G>C	ENST00000436428.2	-	1	266	c.127C>G	c.(127-129)Caa>Gaa	p.Q43E	RP11-112J3.15_ENST00000425499.2_RNA|RGP1_ENST00000378078.4_3'UTR|MSMP_ENST00000414286.1_Intron	NM_001044264.2	NP_001037729.1	Q1L6U9	MSMP_HUMAN	microseminoprotein, prostate associated	43						cytoplasm (GO:0005737)|extracellular space (GO:0005615)				endometrium(2)|kidney(1)|lung(3)|prostate(3)	9						ACTTTACCTTGAGCTTGGAAG	0.552																																						uc003zyb.1		NaN																	0					0						c.(127-129)CAA>GAA		PC3-secreted microprotein precursor							246.0	257.0	253.0					9																	35754000		2066	4217	6283	SO:0001583	missense	692094					extracellular region		g.chr9:35754000G>C	DQ012170	CCDS43797.1	9p13.3	2012-10-02			ENSG00000215183	ENSG00000215183			29663	protein-coding gene	gene with protein product		612191				17338636	Standard	NM_001044264		Approved	PC-3, PSMP	uc003zyb.2	Q1L6U9	OTTHUMG00000019882	ENST00000436428.2:c.127C>G	9.37:g.35754000G>C	ENSP00000419194:p.Gln43Glu						p.Q43E	NM_001044264	NP_001037729	Q1L6U9	MSMP_HUMAN			1	273	-			43						Missense_Mutation	SNP	ENST00000436428.2	37	c.127C>G	CCDS43797.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.312856	0.23908	.	.	ENSG00000215183	ENST00000436428	T	0.44482	0.92	5.81	5.81	0.92471	.	0.189336	0.20579	U	0.089569	T	0.27832	0.0685	N	0.08118	0	0.36722	D	0.881239	P	0.38827	0.649	B	0.42030	0.373	T	0.25950	-1.0117	10	0.21540	T	0.41	.	14.1165	0.65156	0.0:0.0:0.8409:0.1591	.	43	Q1L6U9	MSMP_HUMAN	E	43	ENSP00000419194:Q43E	ENSP00000419194:Q43E	Q	-	1	0	MSMP	35744000	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.895000	0.48648	2.733000	0.93635	0.655000	0.94253	CAA		0.552	MSMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052384.2		NM_001044264		428	245	0	0	0	0.01441	0	428	245		
SPATA31A6	389730	broad.mit.edu	37	9	43625382	43625382	+	Missense_Mutation	SNP	G	G	A	rs143826416	byFrequency	TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr9:43625382G>A	ENST00000332857.6	-	4	3333	c.3305C>T	c.(3304-3306)cCt>cTt	p.P1102L	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	1102					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CTTGTGAATAGGGGGAAACAT	0.483													G|||	2248	0.448882	0.3132	0.4625	5008	,	,		13804	0.6458		0.5	False		,,,				2504	0.3671					uc011lrb.1		NaN																	0					0						c.(3304-3306)CCT>CTT		hypothetical protein LOC389730							1.0	2.0	2.0					9																	43625382		372	1032	1404	SO:0001583	missense	389730					integral to membrane		g.chr9:43625382G>A		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.3305C>T	9.37:g.43625382G>A	ENSP00000329825:p.Pro1102Leu						p.P1102L	NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN			4	3334	-			1102						Missense_Mutation	SNP	ENST00000332857.6	37	c.3305C>T	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.762340	0.31228	.	.	ENSG00000185775	ENST00000332857	T	0.04970	3.52	2.44	0.396	0.16309	.	1.512980	0.04100	N	0.312673	T	0.12860	0.0312	M	0.71206	2.165	0.80722	P	0.0	B	0.33044	0.395	B	0.42495	0.389	T	0.36648	-0.9739	9	0.56958	D	0.05	.	2.8448	0.05540	0.1624:0.0:0.5643:0.2733	.	1102	Q5VVP1	F75A6_HUMAN	L	1102	ENSP00000329825:P1102L	ENSP00000329825:P1102L	P	-	2	0	FAM75A6	43565378	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	0.063000	0.14410	0.111000	0.17947	0.383000	0.25322	CCT		0.483	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1		NM_001145196		8	49	0	0	0	0.013537	0	8	49		
SPATA31D1	389763	broad.mit.edu	37	9	84607086	84607086	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr9:84607086G>A	ENST00000344803.2	+	4	1748	c.1701G>A	c.(1699-1701)ctG>ctA	p.L567L		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	567					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CTCAAACCCTGCCCCAAGGTC	0.517																																						uc004amn.2		NaN																	0					0						c.(1699-1701)CTG>CTA		hypothetical protein LOC389763							130.0	123.0	125.0					9																	84607086		1925	4134	6059	SO:0001819	synonymous_variant	389763					integral to membrane		g.chr9:84607086G>A		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.1701G>A	9.37:g.84607086G>A							p.L567L	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			4	1748	+			567						Silent	SNP	ENST00000344803.2	37	c.1701G>A	CCDS47986.1																																																																																				0.517	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1		NM_001001670		25	122	0	0	0	0.024334	0	25	122		
SPIN1	10927	broad.mit.edu	37	9	91090081	91090081	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr9:91090081G>A	ENST00000375859.3	+	6	956	c.678G>A	c.(676-678)tcG>tcA	p.S226S	SPIN1_ENST00000541629.1_Silent_p.S226S|SPIN1_ENST00000469017.2_3'UTR	NM_006717.2	NP_006708.2	Q9Y657	SPIN1_HUMAN	spindlin 1	226	Tudor-like domain 3.				chromatin modification (GO:0016568)|gamete generation (GO:0007276)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|positive regulation of Wnt signaling pathway (GO:0030177)|rRNA transcription (GO:0009303)|Wnt signaling pathway (GO:0016055)	nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle (GO:0005819)	methylated histone binding (GO:0035064)			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						AAGATGGCTCGAAAAGGACTG	0.418																																						uc010mqj.2		NaN																	0					0						c.(676-678)TCG>TCA		spindlin							87.0	90.0	89.0					9																	91090081		2184	4298	6482	SO:0001819	synonymous_variant	10927				cell cycle|gamete generation|multicellular organismal development	nucleus	methylated histone residue binding	g.chr9:91090081G>A	AF317228	CCDS43843.1	9q22.1	2008-02-05	2007-01-03	2007-01-03	ENSG00000106723	ENSG00000106723			11243	protein-coding gene	gene with protein product		609936	"""spindlin"""	SPIN		16098913	Standard	NM_006717		Approved		uc004apy.3	Q9Y657	OTTHUMG00000020168	ENST00000375859.3:c.678G>A	9.37:g.91090081G>A						SPIN1_uc004apy.2_Silent_p.S226S|SPIN1_uc004apz.2_Silent_p.S226S|SPIN1_uc010mqk.2_Silent_p.S226S	p.S226S	NM_006717	NP_006708	Q9Y657	SPIN1_HUMAN			6	1178	+			226					A8K0X6|B3KRQ4|Q7KZJ8|Q9GZT2|Q9H0N7	Silent	SNP	ENST00000375859.3	37	c.678G>A	CCDS43843.1																																																																																				0.418	SPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052967.1		NM_006717		21	103	0	0	0	0.012319	0	21	103		
WNK2	65268	broad.mit.edu	37	9	96015214	96015214	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr9:96015214G>A	ENST00000297954.4	+	8	1884	c.1884G>A	c.(1882-1884)tcG>tcA	p.S628S	WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_Silent_p.S240S|WNK2_ENST00000395477.2_Silent_p.S628S|WNK2_ENST00000349097.3_Silent_p.S240S|WNK2_ENST00000395475.2_Silent_p.S614S	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	628					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						ACTCAGACTCGCAGAGCAGCC	0.642																																						uc004ati.1		NaN																	0				lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12						c.(1882-1884)TCG>TCA		WNK lysine deficient protein kinase 2							33.0	21.0	25.0					9																	96015214		2197	4297	6494	SO:0001819	synonymous_variant	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:96015214G>A	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.1884G>A	9.37:g.96015214G>A						WNK2_uc011lud.1_Silent_p.S628S|WNK2_uc004atj.2_Silent_p.S628S|WNK2_uc004atk.2_Silent_p.S265S|WNK2_uc010mrc.1_Silent_p.S628S	p.S628S	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN			8	1884	+			628					Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Silent	SNP	ENST00000297954.4	37	c.1884G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.69|10.69	1.421518|1.421518	0.25639|0.25639	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000411624|ENST00000432730	.|.	.|.	.|.	4.55|4.55	-5.53|-5.53	0.02552|0.02552	.|.	.|.	.|.	.|.	.|.	T|T	0.39306|0.39306	0.1073|0.1073	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.42189|0.42189	-0.9466|-0.9466	4|4	.|.	.|.	.|.	.|.	3.6986|3.6986	0.08374|0.08374	0.3514:0.3177:0.2528:0.0781|0.3514:0.3177:0.2528:0.0781	.|.	.|.	.|.	.|.	T|H	232|624	.|.	.|.	A|R	+|+	1|2	0|0	WNK2|WNK2	95055035|95055035	0.000000|0.000000	0.05858|0.05858	0.984000|0.984000	0.44739|0.44739	0.934000|0.934000	0.57294|0.57294	-1.745000|-1.745000	0.01831|0.01831	-0.668000|-0.668000	0.05296|0.05296	-0.448000|-0.448000	0.05591|0.05591	GCA|CGC		0.642	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1		NM_006648		4	3	0	0	0	0.009096	0	4	3		
CCDC180	100499483	broad.mit.edu	37	9	100079409	100079409	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr9:100079409G>A	ENST00000357054.1	+	23	2342	c.1407G>A	c.(1405-1407)atG>atA	p.M469I	CCDC180_ENST00000529487.1_Missense_Mutation_p.M330I|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000411667.2_Missense_Mutation_p.M327I|CCDC180_ENST00000395220.1_Missense_Mutation_p.M469I|CCDC180_ENST00000375202.2_Missense_Mutation_p.M330I|RP11-23J9.4_ENST00000534123.1_RNA			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	469						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											TCAACCTGATGGAGTCCACCC	0.612																																						uc011lut.1		NaN																	0				ovary(4)|large_intestine(2)|skin(1)	7						c.(1405-1407)ATG>ATA		hypothetical protein LOC57653							75.0	71.0	72.0					9																	100079409		2203	4300	6503	SO:0001583	missense	57653							g.chr9:100079409G>A	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.1407G>A	9.37:g.100079409G>A	ENSP00000349562:p.Met469Ile					KIAA1529_uc004axe.1_Missense_Mutation_p.M469I|KIAA1529_uc004axg.1_Missense_Mutation_p.M330I|KIAA1529_uc011lus.1_Missense_Mutation_p.M287I|KIAA1529_uc010msm.1_RNA|KIAA1529_uc004axf.2_Missense_Mutation_p.M330I|KIAA1529_uc011luv.1_Missense_Mutation_p.M327I	p.M469I	NM_020893	NP_065944					21	2180	+		Acute lymphoblastic leukemia(62;0.154)						Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37	c.1407G>A		.	.	.	.	.	.	.	.	.	.	G	16.66	3.184046	0.57800	.	.	ENSG00000197816	ENST00000357054;ENST00000395220;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89	5.28	4.36	0.52297	.	0.384991	0.31061	N	0.008322	T	0.38348	0.1037	M	0.68952	2.095	0.25333	N	0.989018	D;P;P;P	0.56287	0.975;0.557;0.884;0.782	P;B;P;B	0.53861	0.736;0.167;0.509;0.26	T	0.19745	-1.0296	10	0.38643	T	0.18	-9.3298	11.1876	0.48666	0.0:0.0:0.8089:0.1911	.	327;469;330;469	F5H149;B7ZMG3;Q9P1Z9-2;Q9P1Z9	.;.;.;CI174_HUMAN	I	469;469;330;327;353;330	ENSP00000349562:M469I;ENSP00000378646:M469I;ENSP00000364348:M330I;ENSP00000414000:M327I;ENSP00000434727:M330I	ENSP00000349562:M469I	M	+	3	0	C9orf174	99119230	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.881000	0.39638	1.319000	0.45190	0.563000	0.77884	ATG		0.612	CCDC180-201	KNOWN	basic	protein_coding	protein_coding			NM_020893		30	125	0	0	0	0.008361	0	30	125		
MURC	347273	broad.mit.edu	37	9	103348232	103348232	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr9:103348232C>T	ENST00000307584.5	+	2	659	c.594C>T	c.(592-594)atC>atT	p.I198I		NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	198					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Z disc (GO:0030018)				endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				TTGATAATATCAAGAAGGCAT	0.423																																						uc004bba.2		NaN																	0				ovary(1)	1						c.(592-594)ATC>ATT		muscle-related coiled-coil protein							86.0	88.0	87.0					9																	103348232		2203	4300	6503	SO:0001819	synonymous_variant	347273				cell differentiation|muscle organ development|transcription, DNA-dependent			g.chr9:103348232C>T	BC090888	CCDS35083.1	9q31.1	2014-09-17			ENSG00000170681	ENSG00000170681			33742	protein-coding gene	gene with protein product	"""muscle-restricted coiled-coil protein"""					18508909, 18332105	Standard	NM_001018116		Approved	cavin-4, CAVIN4	uc004bba.3	Q5BKX8	OTTHUMG00000020368	ENST00000307584.5:c.594C>T	9.37:g.103348232C>T							p.I198I	NM_001018116	NP_001018126	Q5BKX8	MURC_HUMAN			2	684	+		Acute lymphoblastic leukemia(62;0.0461)	198					B1PRL3|B4DT88	Silent	SNP	ENST00000307584.5	37	c.594C>T	CCDS35083.1																																																																																				0.423	MURC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053419.2		NM_001018116		72	39	0	0	0	0.01441	0	72	39		
ZNF189	7743	broad.mit.edu	37	9	104171809	104171809	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr9:104171809C>T	ENST00000339664.2	+	3	1888	c.1759C>T	c.(1759-1761)Cag>Tag	p.Q587*	ZNF189_ENST00000259395.4_Nonsense_Mutation_p.Q545*|ZNF189_ENST00000374861.3_Nonsense_Mutation_p.Q573*	NM_001278240.1	NP_001265169.1	O75820	ZN189_HUMAN	zinc finger protein 189	587					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				TGTCAACCATCAGAAGATCCA	0.423																																						uc004bbh.1		NaN																	0				ovary(2)|skin(2)|kidney(1)|central_nervous_system(1)	6						c.(1759-1761)CAG>TAG		zinc finger protein 189 isoform 1							80.0	83.0	82.0					9																	104171809		2203	4300	6503	SO:0001587	stop_gained	7743				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:104171809C>T	AF025770	CCDS6754.1, CCDS6755.1, CCDS65096.1, CCDS75867.1	9q22-q31	2013-01-08			ENSG00000136870	ENSG00000136870		"""Zinc fingers, C2H2-type"", ""-"""	12980	protein-coding gene	gene with protein product		603132				9653648	Standard	NM_003452		Approved		uc004bbh.2	O75820	OTTHUMG00000020383	ENST00000339664.2:c.1759C>T	9.37:g.104171809C>T	ENSP00000342019:p.Gln587*					ZNF189_uc004bbg.1_Nonsense_Mutation_p.Q545*|ZNF189_uc004bbi.1_Nonsense_Mutation_p.Q573*|ZNF189_uc011lvk.1_Nonsense_Mutation_p.Q572*	p.Q587*	NM_003452	NP_003443	O75820	ZN189_HUMAN			3	2035	+		Acute lymphoblastic leukemia(62;0.0559)	587			C2H2-type 15.		O75802|Q5T7D7|Q5T7D8|Q5T7D9|Q9UBL4|Q9UPE9|Q9UPF0|Q9UPF1	Nonsense_Mutation	SNP	ENST00000339664.2	37	c.1759C>T	CCDS6754.1	.	.	.	.	.	.	.	.	.	.	C	31	5.077111	0.94000	.	.	ENSG00000136870	ENST00000374861;ENST00000339664;ENST00000259395	.	.	.	4.35	4.35	0.52113	.	0.000000	0.41396	D	0.000899	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	9.99	0.41865	0.2014:0.7986:0.0:0.0	.	.	.	.	X	573;587;545	.	ENSP00000259395:Q545X	Q	+	1	0	ZNF189	103211630	0.001000	0.12720	1.000000	0.80357	0.989000	0.77384	0.511000	0.22739	2.720000	0.93068	0.650000	0.86243	CAG		0.423	ZNF189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053447.1		NM_003452		25	55	0	0	0	0.01892	0	25	55		
TMEM245	23731	broad.mit.edu	37	9	111812856	111812856	+	Silent	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr9:111812856G>C	ENST00000374586.3	-	13	2002	c.1971C>G	c.(1969-1971)ctC>ctG	p.L657L		NM_032012.3	NP_114401.2	Q9H330	TM245_HUMAN	transmembrane protein 245	657						integral component of membrane (GO:0016021)											GTACCAGAGAGAGTACAAAAT	0.443																																						uc004bdt.3		NaN																	0				central_nervous_system(1)	1						c.(1969-1971)CTC>CTG		hypothetical protein LOC23731							134.0	128.0	130.0					9																	111812856		1962	4170	6132	SO:0001819	synonymous_variant	23731					integral to membrane		g.chr9:111812856G>C	AF153415	CCDS43858.1	9q31	2012-03-06	2012-03-06	2012-03-06	ENSG00000106771	ENSG00000106771			1363	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 5"""	C9orf5		10564813	Standard	NM_032012		Approved	CG-2	uc004bdt.4	Q9H330	OTTHUMG00000020469	ENST00000374586.3:c.1971C>G	9.37:g.111812856G>C						C9orf5_uc004bds.3_RNA|C9orf5_uc004bdr.3_Silent_p.L649L	p.L657L	NM_032012	NP_114401	Q9H330	CI005_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;3.08e-05)|STAD - Stomach adenocarcinoma(157;0.0823)	13	2003	-		Myeloproliferative disorder(63;0.204)	657			Helical; (Potential).		B4DSW7|Q5JTQ5|Q5SS43|Q6ZME3|Q8NDJ5|Q96CG6	Silent	SNP	ENST00000374586.3	37	c.1971C>G	CCDS43858.1	.	.	.	.	.	.	.	.	.	.	G	0.053	-1.244731	0.01481	.	.	ENSG00000106771	ENST00000413712	T	0.46451	0.87	5.83	-5.48	0.02592	.	0.000000	0.85682	D	0.000000	T	0.26629	0.0651	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.17107	-1.0380	7	0.21540	T	0.41	-12.8797	3.9014	0.09162	0.1842:0.2929:0.3631:0.1598	.	.	.	.	V	250	ENSP00000394798:L250V	ENSP00000394798:L250V	L	-	1	0	C9orf5	110852677	0.849000	0.29639	0.157000	0.22605	0.036000	0.12997	0.037000	0.13840	-1.531000	0.01749	-2.085000	0.00377	CTC		0.443	TMEM245-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053587.2		NM_032012		15	76	0	0	0	0.00499	0	15	76		
SUSD1	64420	broad.mit.edu	37	9	114904756	114904756	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr9:114904756C>T	ENST00000374270.3	-	5	722	c.550G>A	c.(550-552)Gag>Aag	p.E184K	SUSD1_ENST00000374263.3_Missense_Mutation_p.E184K|SUSD1_ENST00000374264.2_Missense_Mutation_p.E184K|SUSD1_ENST00000482851.1_5'UTR	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	184	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TCTGGAACCTCAGGAGGGGTA	0.398																																						uc004bfu.2		NaN																	0					0						c.(550-552)GAG>AAG		sushi domain containing 1 precursor							119.0	127.0	124.0					9																	114904756		2203	4300	6503	SO:0001583	missense	64420					integral to membrane	calcium ion binding	g.chr9:114904756C>T	AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.550G>A	9.37:g.114904756C>T	ENSP00000363388:p.Glu184Lys					SUSD1_uc010mui.2_Missense_Mutation_p.E184K|SUSD1_uc010muj.2_Missense_Mutation_p.E184K	p.E184K	NM_022486	NP_071931	Q6UWL2	SUSD1_HUMAN			5	591	-			184			Sushi 1.|Extracellular (Potential).		A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Missense_Mutation	SNP	ENST00000374270.3	37	c.550G>A	CCDS6783.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.138402	0.77775	.	.	ENSG00000106868	ENST00000374270;ENST00000374263;ENST00000374264	T;T;T	0.65178	-0.14;-0.14;-0.14	5.76	4.84	0.62591	Complement control module (2);Sushi/SCR/CCP (3);	0.136308	0.33217	N	0.005150	T	0.71660	0.3366	M	0.70787	2.145	0.29999	N	0.816165	D;D;D	0.57571	0.975;0.975;0.98	P;P;P	0.59487	0.778;0.672;0.858	T	0.68157	-0.5483	10	0.10636	T	0.68	-8.2687	14.3964	0.67013	0.0:0.719:0.281:0.0	.	184;184;184	F8WAQ1;Q6UWL2-2;Q6UWL2	.;.;SUSD1_HUMAN	K	184	ENSP00000363388:E184K;ENSP00000363381:E184K;ENSP00000363382:E184K	ENSP00000363381:E184K	E	-	1	0	SUSD1	113944577	0.008000	0.16893	0.996000	0.52242	0.958000	0.62258	0.880000	0.28159	1.525000	0.49052	0.650000	0.86243	GAG		0.398	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053668.3		NM_022486		111	82	0	0	0	0.01441	0	111	82		
TLR4	7099	broad.mit.edu	37	9	120475327	120475327	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr9:120475327G>C	ENST00000355622.6	+	3	1022	c.921G>C	c.(919-921)ttG>ttC	p.L307F	TLR4_ENST00000394487.4_Missense_Mutation_p.L267F|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	307					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|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 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)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	TTAATTGTTTGACAAATGTTT	0.338																																						uc004bjz.2		NaN																	0				lung(10)|ovary(4)|breast(1)|skin(1)	16						c.(919-921)TTG>TTC		toll-like receptor 4 precursor							82.0	87.0	85.0					9																	120475327		2203	4300	6503	SO:0001583	missense	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120475327G>C	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.921G>C	9.37:g.120475327G>C	ENSP00000363089:p.Leu307Phe					TLR4_uc004bka.2_Missense_Mutation_p.L267F|TLR4_uc004bkb.2_Missense_Mutation_p.L107F	p.L307F	NM_138554	NP_612564	O00206	TLR4_HUMAN			3	1212	+			307			Extracellular (Potential).		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	c.921G>C	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.872903	0.33069	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.32023	1.47;1.47	5.78	0.068	0.14368	.	0.241347	0.29410	N	0.012238	T	0.46889	0.1416	M	0.74647	2.275	0.21290	N	0.999736	D	0.89917	1.0	D	0.74674	0.984	T	0.26087	-1.0113	10	0.72032	D	0.01	.	5.9879	0.19444	0.4205:0.0:0.4533:0.1263	.	307	O00206	TLR4_HUMAN	F	267;307	ENSP00000377997:L267F;ENSP00000363089:L307F	ENSP00000363089:L307F	L	+	3	2	TLR4	119515148	0.028000	0.19301	0.707000	0.30419	0.450000	0.32258	0.016000	0.13377	0.078000	0.16900	-0.140000	0.14226	TTG		0.338	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3		NM_138554		30	106	0	0	0	0.008361	0	30	106		
WDR38	401551	broad.mit.edu	37	9	127617983	127617983	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr9:127617983C>T	ENST00000373574.1	+	3	317	c.261C>T	c.(259-261)gtC>gtT	p.V87V		NM_001045476.1|NM_001276374.1	NP_001038941.1|NP_001263303.1	Q5JTN6	WDR38_HUMAN	WD repeat domain 38	87					hematopoietic progenitor cell differentiation (GO:0002244)					breast(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						ACTGCACTGTCCGCCTGTGGG	0.642											OREG0019485	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004box.2		NaN																	0					0						c.(259-261)GTC>GTT		WD repeat domain 38							77.0	83.0	81.0					9																	127617983		2141	4244	6385	SO:0001819	synonymous_variant	401551							g.chr9:127617983C>T		CCDS43876.1, CCDS75898.1, CCDS75899.1	9q33.3	2013-01-09			ENSG00000136918	ENSG00000136918		"""WD repeat domain containing"""	23745	protein-coding gene	gene with protein product							Standard	NM_001276375		Approved		uc011lzo.3	Q5JTN6	OTTHUMG00000020664	ENST00000373574.1:c.261C>T	9.37:g.127617983C>T			OREG0019485	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1558	WDR38_uc011lzn.1_Silent_p.V76V|WDR38_uc011lzo.1_Silent_p.V87V|WDR38_uc011lzp.1_Intron	p.V87V	NM_001045476	NP_001038941	Q5JTN6	WDR38_HUMAN			3	317	+			87			WD 2.		A0PK24	Silent	SNP	ENST00000373574.1	37	c.261C>T	CCDS43876.1																																																																																				0.642	WDR38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054048.1		NM_001045476		19	77	0	0	0	0.007413	0	19	77		
PTGES2	80142	broad.mit.edu	37	9	130887585	130887585	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr9:130887585C>G	ENST00000338961.6	-	2	1159	c.415G>C	c.(415-417)Gag>Cag	p.E139Q	PTGES2_ENST00000277462.5_5'UTR|PTGES2_ENST00000483625.1_5'UTR	NM_001256335.1|NM_025072.6	NP_001243264.1|NP_079348.1	Q9H7Z7	PGES2_HUMAN	prostaglandin E synthase 2	139	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				cell redox homeostasis (GO:0045454)|positive regulation of transcription, DNA-templated (GO:0045893)|prostaglandin biosynthetic process (GO:0001516)|secretion (GO:0046903)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|glutathione binding (GO:0043295)|heme binding (GO:0020037)|lyase activity (GO:0016829)|prostaglandin-E synthase activity (GO:0050220)|protein disulfide oxidoreductase activity (GO:0015035)			endometrium(1)|large_intestine(1)|lung(2)	4						AACTTGATCTCAGCCCTGCGC	0.602																																						uc004bti.2		NaN																	0					0						c.(415-417)GAG>CAG		prostaglandin E synthase 2							74.0	60.0	64.0					9																	130887585		2203	4300	6503	SO:0001583	missense	80142				cell redox homeostasis|prostaglandin biosynthetic process	Golgi membrane|integral to membrane|mitochondrion|perinuclear region of cytoplasm	electron carrier activity|prostaglandin-E synthase activity|protein binding|protein disulfide oxidoreductase activity	g.chr9:130887585C>G	AK024100	CCDS6891.1	9q34.12	2008-05-06	2002-06-13	2002-06-14	ENSG00000148334	ENSG00000148334			17822	protein-coding gene	gene with protein product		608152	"""chromosome 9 open reading frame 15"""	C9orf15		11866447	Standard	NM_025072		Approved	FLJ14038	uc004bti.4	Q9H7Z7	OTTHUMG00000020730	ENST00000338961.6:c.415G>C	9.37:g.130887585C>G	ENSP00000345341:p.Glu139Gln					PTGES2_uc004btj.2_RNA|PTGES2_uc004btk.2_5'UTR|PTGES2_uc004btl.2_5'UTR|PTGES2_uc004btm.2_RNA	p.E139Q	NM_025072	NP_079348	Q9H7Z7	PGES2_HUMAN			2	893	-			139			Glutaredoxin.|Cytoplasmic (Potential).		Q53EW9|Q5SYV6|Q96GI0|Q96GL2	Missense_Mutation	SNP	ENST00000338961.6	37	c.415G>C	CCDS6891.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.459367	0.84317	.	.	ENSG00000148334	ENST00000338961;ENST00000449878	T;T	0.25749	1.78;2.54	4.88	4.88	0.63580	Glutaredoxin (2);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.43144	0.1234	L	0.41824	1.3	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.24905	-1.0147	10	0.45353	T	0.12	1.7684	17.0193	0.86429	0.0:1.0:0.0:0.0	.	139	Q9H7Z7	PGES2_HUMAN	Q	139;104	ENSP00000345341:E139Q;ENSP00000411378:E104Q	ENSP00000345341:E139Q	E	-	1	0	PTGES2	129927406	1.000000	0.71417	0.974000	0.42286	0.997000	0.91878	7.487000	0.81328	2.247000	0.74100	0.561000	0.74099	GAG		0.602	PTGES2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054339.1				18	8	0	0	0	0.006122	0	18	8		
PTGES2	80142	broad.mit.edu	37	9	130887694	130887694	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr9:130887694C>T	ENST00000338961.6	-	2	1050	c.306G>A	c.(304-306)ctG>ctA	p.L102L	PTGES2_ENST00000277462.5_5'UTR|PTGES2_ENST00000483625.1_5'UTR|AL590708.2_ENST00000443493.1_5'Flank	NM_001256335.1|NM_025072.6	NP_001243264.1|NP_079348.1	Q9H7Z7	PGES2_HUMAN	prostaglandin E synthase 2	102	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				cell redox homeostasis (GO:0045454)|positive regulation of transcription, DNA-templated (GO:0045893)|prostaglandin biosynthetic process (GO:0001516)|secretion (GO:0046903)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|glutathione binding (GO:0043295)|heme binding (GO:0020037)|lyase activity (GO:0016829)|prostaglandin-E synthase activity (GO:0050220)|protein disulfide oxidoreductase activity (GO:0015035)			endometrium(1)|large_intestine(1)|lung(2)	4						GGTACAGGGTCAGCTGCAGGC	0.637																																						uc004bti.2		NaN																	0					0						c.(304-306)CTG>CTA		prostaglandin E synthase 2							64.0	62.0	63.0					9																	130887694		2203	4300	6503	SO:0001819	synonymous_variant	80142				cell redox homeostasis|prostaglandin biosynthetic process	Golgi membrane|integral to membrane|mitochondrion|perinuclear region of cytoplasm	electron carrier activity|prostaglandin-E synthase activity|protein binding|protein disulfide oxidoreductase activity	g.chr9:130887694C>T	AK024100	CCDS6891.1	9q34.12	2008-05-06	2002-06-13	2002-06-14	ENSG00000148334	ENSG00000148334			17822	protein-coding gene	gene with protein product		608152	"""chromosome 9 open reading frame 15"""	C9orf15		11866447	Standard	NM_025072		Approved	FLJ14038	uc004bti.4	Q9H7Z7	OTTHUMG00000020730	ENST00000338961.6:c.306G>A	9.37:g.130887694C>T						PTGES2_uc004btj.2_RNA|PTGES2_uc004btk.2_5'UTR|PTGES2_uc004btl.2_5'UTR|PTGES2_uc004btm.2_RNA	p.L102L	NM_025072	NP_079348	Q9H7Z7	PGES2_HUMAN			2	784	-			102			Glutaredoxin.|Cytoplasmic (Potential).		Q53EW9|Q5SYV6|Q96GI0|Q96GL2	Silent	SNP	ENST00000338961.6	37	c.306G>A	CCDS6891.1																																																																																				0.637	PTGES2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054339.1				35	23	0	0	0	0.023175	0	35	23		
MED27	9442	broad.mit.edu	37	9	134889766	134889766	+	Missense_Mutation	SNP	C	C	T	rs532293886		TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr9:134889766C>T	ENST00000292035.5	-	3	500	c.437G>A	c.(436-438)cGt>cAt	p.R146H	MED27_ENST00000357028.2_Missense_Mutation_p.R146H	NM_004269.3	NP_004260.2	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	146					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	18		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)		CTTTGGTCTACGTTTGGCAGA	0.428													C|||	1	0.000199681	0.0	0.0	5008	,	,		18731	0.0		0.0	False		,,,				2504	0.001				Colon(41;784 923 6932 42329 52483)	uc004cbe.1		NaN																	0				skin(1)	1						c.(436-438)CGT>CAT		mediator complex subunit 27							148.0	125.0	133.0					9																	134889766		2203	4300	6503	SO:0001583	missense	9442				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleolus|transcription factor complex	protein binding|transcription coactivator activity	g.chr9:134889766C>T	AF104252	CCDS6945.1, CCDS59153.1, CCDS69689.1	9q34.13	2008-02-05	2007-07-30	2007-07-30	ENSG00000160563	ENSG00000160563			2377	protein-coding gene	gene with protein product		605044	"""cofactor required for Sp1 transcriptional activation, subunit 8, 34kDa"""	CRSP8		9989412	Standard	NM_004269		Approved	TRAP37, CRSP34	uc004cbe.2	Q6P2C8	OTTHUMG00000020833	ENST00000292035.5:c.437G>A	9.37:g.134889766C>T	ENSP00000292035:p.Arg146His					MED27_uc004cbf.1_Missense_Mutation_p.R146H|MED27_uc011mco.1_Missense_Mutation_p.R146H|MED27_uc004cbg.3_Missense_Mutation_p.R146H	p.R146H	NM_004269	NP_004260	Q6P2C8	MED27_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)	3	459	-		Myeloproliferative disorder(178;0.206)	146					O95401|Q4F964|Q5VTA4|Q5VTA5|Q9BU57|Q9NYR4|V9GYV9	Missense_Mutation	SNP	ENST00000292035.5	37	c.437G>A	CCDS6945.1	.	.	.	.	.	.	.	.	.	.	C	31	5.101920	0.94245	.	.	ENSG00000160563	ENST00000292035;ENST00000357028;ENST00000372184	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.78059	0.4224	M	0.61703	1.905	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.998	D;D;P	0.76071	0.987;0.984;0.747	T	0.79090	-0.1946	9	0.72032	D	0.01	-23.6762	18.7019	0.91623	0.0:1.0:0.0:0.0	.	146;146;146	B4DPP5;Q6P2C8-2;Q6P2C8	.;.;MED27_HUMAN	H	146;108;146	.	ENSP00000292035:R146H	R	-	2	0	MED27	133879587	1.000000	0.71417	0.897000	0.35233	0.994000	0.84299	6.946000	0.75953	2.655000	0.90218	0.462000	0.41574	CGT		0.428	MED27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054770.2		NM_004269		24	73	0	0	0	0.024334	0	24	73		
MXRA5	25878	broad.mit.edu	37	X	3238916	3238916	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chrX:3238916G>C	ENST00000217939.6	-	5	4964	c.4810C>G	c.(4810-4812)Caa>Gaa	p.Q1604E		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1604						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTGGTTAGTTGATGAGAAGCA	0.483																																						uc004crg.3		NaN																	0				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(4810-4812)CAA>GAA		adlican precursor							176.0	153.0	161.0					X																	3238916		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3238916G>C	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.4810C>G	X.37:g.3238916G>C	ENSP00000217939:p.Gln1604Glu						p.Q1604E	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			5	4967	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1604					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.4810C>G	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	g	9.246	1.039455	0.19669	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.63744	-0.06	3.07	3.07	0.35406	.	0.000000	0.37623	U	0.002006	T	0.43166	0.1235	N	0.19112	0.55	0.09310	N	1	P	0.36683	0.565	B	0.29176	0.099	T	0.37454	-0.9705	10	0.41790	T	0.15	.	14.2937	0.66298	0.0:0.0:1.0:0.0	.	1604	Q9NR99	MXRA5_HUMAN	E	1604	ENSP00000217939:Q1604E	ENSP00000217939:Q1604E	Q	-	1	0	MXRA5	3248916	0.018000	0.18449	0.002000	0.10522	0.144000	0.21451	1.802000	0.38853	1.314000	0.45095	0.287000	0.19450	CAA		0.483	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2		NM_015419		42	82	0	0	0	0.025465	0	42	82		
OFD1	8481	broad.mit.edu	37	X	13780470	13780470	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chrX:13780470C>G	ENST00000340096.6	+	18	2722	c.2395C>G	c.(2395-2397)Cga>Gga	p.R799G	OFD1_ENST00000380550.3_Missense_Mutation_p.R759G|OFD1_ENST00000380567.1_Missense_Mutation_p.R659G|OFD1_ENST00000490265.1_3'UTR	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	799	Mediates the interaction with SDCCAG8.				axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TAGTCTTTATCGAAGACAAAC	0.343																																						uc004cvp.3		NaN																	0					0						c.(2395-2397)CGA>GGA		oral-facial-digital syndrome 1							74.0	68.0	70.0					X																	13780470		2203	4298	6501	SO:0001583	missense	8481				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding	g.chrX:13780470C>G	Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"""retinitis pigmentosa 23 (X-linked recessive)"""	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.2395C>G	X.37:g.13780470C>G	ENSP00000344314:p.Arg799Gly					OFD1_uc004cvr.3_Missense_Mutation_p.R366G|OFD1_uc011mil.1_Missense_Mutation_p.R366G|OFD1_uc004cvq.3_Missense_Mutation_p.R659G|OFD1_uc010nen.2_Missense_Mutation_p.R798G|OFD1_uc004cvs.3_RNA|OFD1_uc004cvu.3_Missense_Mutation_p.R758G|OFD1_uc004cvv.3_Missense_Mutation_p.R758G	p.R799G	NM_003611	NP_003602	O75665	OFD1_HUMAN			18	2754	+			799			Mediates the interaction with SDCCAG8.		B9ZVU5|O75666|Q4VAK4	Missense_Mutation	SNP	ENST00000340096.6	37	c.2395C>G	CCDS14157.1	.	.	.	.	.	.	.	.	.	.	C	4.720	0.133837	0.09032	.	.	ENSG00000046651	ENST00000380550;ENST00000340096;ENST00000380567	D;D;D	0.95724	-3.79;-3.78;-1.67	5.1	4.19	0.49359	.	0.438988	0.22435	N	0.060084	D	0.88658	0.6496	N	0.14661	0.345	0.09310	N	1	P;B;B;B;P	0.34780	0.468;0.277;0.094;0.094;0.468	B;B;B;B;B	0.30855	0.121;0.077;0.064;0.04;0.121	D	0.83569	0.0111	10	0.59425	D	0.04	-10.7881	10.3516	0.43939	0.1447:0.7138:0.1415:0.0	.	799;759;467;659;799	A8K2T9;O75665-3;B4DLQ3;A6NF31;O75665	.;.;.;.;OFD1_HUMAN	G	759;799;659	ENSP00000369923:R759G;ENSP00000344314:R799G;ENSP00000369941:R659G	ENSP00000344314:R799G	R	+	1	2	OFD1	13690391	0.000000	0.05858	0.499000	0.27577	0.049000	0.14656	0.265000	0.18515	2.137000	0.66172	0.513000	0.50165	CGA		0.343	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055808.1		NM_003611		24	64	0	0	0	0.027356	0	24	64		
FAM47B	170062	broad.mit.edu	37	X	34961687	34961687	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chrX:34961687C>G	ENST00000329357.5	+	1	775	c.739C>G	c.(739-741)Ctc>Gtc	p.L247V		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	247	Pro-rich.									breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CGCATCTCATCTCCGCGTGGA	0.627																																						uc004ddi.1		NaN																	0				ovary(3)|breast(1)	4						c.(739-741)CTC>GTC		hypothetical protein LOC170062							58.0	54.0	55.0					X																	34961687		2202	4300	6502	SO:0001583	missense	170062							g.chrX:34961687C>G	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.739C>G	X.37:g.34961687C>G	ENSP00000328307:p.Leu247Val						p.L247V	NM_152631	NP_689844	Q8NA70	FA47B_HUMAN			1	757	+			247			Pro-rich.		Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	c.739C>G	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	C	6.941	0.543420	0.13250	.	.	ENSG00000189132	ENST00000329357	T	0.21031	2.03	0.235	0.235	0.15431	.	.	.	.	.	T	0.15305	0.0369	L	0.51914	1.62	0.09310	N	1	B	0.32101	0.356	B	0.26614	0.071	T	0.20438	-1.0275	9	0.28530	T	0.3	.	6.1977	0.20559	0.0:0.9996:0.0:3.0E-4	.	247	Q8NA70	FA47B_HUMAN	V	247	ENSP00000328307:L247V	ENSP00000328307:L247V	L	+	1	0	FAM47B	34871608	0.120000	0.22244	0.003000	0.11579	0.003000	0.03518	-0.380000	0.07427	0.288000	0.22398	0.292000	0.19580	CTC		0.627	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1		NM_152631		25	63	0	0	0	0.024334	0	25	63		
CDK16	5127	broad.mit.edu	37	X	47083838	47083838	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chrX:47083838C>T	ENST00000357227.4	+	3	681	c.257C>T	c.(256-258)tCa>tTa	p.S86L	CDK16_ENST00000457458.2_Missense_Mutation_p.S92L|CDK16_ENST00000276052.6_Missense_Mutation_p.S160L|CDK16_ENST00000518022.1_Missense_Mutation_p.S86L	NM_006201.4	NP_006192.1	Q00536	CDK16_HUMAN	cyclin-dependent kinase 16	86					exocytosis (GO:0006887)|growth hormone secretion (GO:0030252)|neuron projection development (GO:0031175)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|spermatogenesis (GO:0007283)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule cytoskeleton (GO:0015630)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(4)|lung(3)	11						GACCAGGCTTCAGCCACGTCC	0.607																																						uc004dho.2		NaN																	0				lung(1)	1						c.(256-258)TCA>TTA		PCTAIRE protein kinase 1 isoform 1							117.0	76.0	90.0					X																	47083838		2203	4300	6503	SO:0001583	missense	5127						ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chrX:47083838C>T		CCDS14276.1, CCDS48101.1, CCDS55408.1	Xp11	2011-11-08	2009-12-16	2009-12-16	ENSG00000102225	ENSG00000102225		"""Cyclin-dependent kinases"""	8749	protein-coding gene	gene with protein product	"""serine/threonine-protein kinase"""	311550	"""PCTAIRE protein kinase 1"""	PCTK1		1437147, 19884882	Standard	NM_033018		Approved	PCTAIRE, PCTAIRE1, PCTGAIRE, FLJ16665	uc011mll.2	Q00536	OTTHUMG00000021438	ENST00000357227.4:c.257C>T	X.37:g.47083838C>T	ENSP00000349762:p.Ser86Leu					CDK16_uc011mli.1_Missense_Mutation_p.S92L|CDK16_uc011mlj.1_Missense_Mutation_p.S86L|CDK16_uc011mlk.1_Missense_Mutation_p.S86L|CDK16_uc011mll.1_Missense_Mutation_p.S160L	p.S86L	NM_006201	NP_006192	Q00536	CDK16_HUMAN			3	653	+			86					A8K280|B7Z7C8|J3KN74|J3KQP7	Missense_Mutation	SNP	ENST00000357227.4	37	c.257C>T	CCDS14276.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.656633	0.67586	.	.	ENSG00000102225	ENST00000457458;ENST00000357227;ENST00000519758;ENST00000520893;ENST00000540877;ENST00000540311;ENST00000517426;ENST00000518391;ENST00000518022;ENST00000276052	T;T;T;T;T;T	0.73681	-0.57;-0.57;-0.77;0.5;-0.57;-0.6	6.06	5.15	0.70609	.	0.167597	0.40064	N	0.001200	T	0.81945	0.4930	M	0.68952	2.095	0.80722	D	1	B;B;D;B	0.63880	0.009;0.361;0.993;0.014	B;B;P;B	0.57776	0.022;0.11;0.827;0.027	D	0.83894	0.0286	10	0.72032	D	0.01	-5.7205	14.5917	0.68371	0.0:0.857:0.143:0.0	.	160;86;184;86	B7Z7C8;B7Z461;B7Z8T0;Q00536	.;.;.;CDK16_HUMAN	L	92;86;86;86;184;38;86;86;86;160	ENSP00000405798:S92L;ENSP00000349762:S86L;ENSP00000429985:S86L;ENSP00000429044:S86L;ENSP00000429751:S86L;ENSP00000276052:S160L	ENSP00000276052:S160L	S	+	2	0	CDK16	46968782	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.416000	0.66417	2.560000	0.86352	0.600000	0.82982	TCA		0.607	CDK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056406.2		NM_006201		15	23	0	0	0	0.020292	0	15	23		
ARHGEF9	23229	broad.mit.edu	37	X	62885870	62885870	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chrX:62885870C>G	ENST00000253401.6	-	7	1752	c.952G>C	c.(952-954)Gag>Cag	p.E318Q	ARHGEF9_ENST00000374870.4_Missense_Mutation_p.E216Q|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.E316Q|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.E265Q|ARHGEF9_ENST00000495564.1_Intron|ARHGEF9_ENST00000433323.2_Intron|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.E297Q	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	318	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|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)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						TAGATCAGCTCCGAGCTCCTG	0.592																																						uc004dvl.2		NaN																	0				ovary(5)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	8						c.(952-954)GAG>CAG		Cdc42 guanine exchange factor 9							135.0	105.0	115.0					X																	62885870		2203	4300	6503	SO:0001583	missense	23229				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chrX:62885870C>G	AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14561	protein-coding gene	gene with protein product	"""collybistin"""	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.952G>C	X.37:g.62885870C>G	ENSP00000253401:p.Glu318Gln					ARHGEF9_uc004dvj.1_Missense_Mutation_p.E207Q|ARHGEF9_uc004dvk.1_Intron|ARHGEF9_uc011mos.1_Missense_Mutation_p.E297Q|ARHGEF9_uc004dvm.1_Missense_Mutation_p.E297Q|ARHGEF9_uc011mot.1_Missense_Mutation_p.E265Q|ARHGEF9_uc004dvn.2_Missense_Mutation_p.E325Q	p.E318Q	NM_015185	NP_056000	O43307	ARHG9_HUMAN			7	1791	-			318			PH.		A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Missense_Mutation	SNP	ENST00000253401.6	37	c.952G>C	CCDS35315.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.180599	0.57800	.	.	ENSG00000131089	ENST00000253401;ENST00000374878;ENST00000437457;ENST00000374870;ENST00000374872	D;D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48;-2.48	5.08	5.08	0.68730	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	D	0.83358	0.5237	L	0.41824	1.3	0.80722	D	1	B;B;B	0.32800	0.385;0.385;0.385	B;B;B	0.25506	0.061;0.041;0.041	T	0.81897	-0.0722	10	0.31617	T	0.26	.	16.1104	0.81259	0.0:1.0:0.0:0.0	.	265;316;318	B4DHC7;B1AMR4;O43307	.;.;ARHG9_HUMAN	Q	318;316;265;216;297	ENSP00000253401:E318Q;ENSP00000364012:E316Q;ENSP00000399994:E265Q;ENSP00000364004:E216Q;ENSP00000364006:E297Q	ENSP00000253401:E318Q	E	-	1	0	ARHGEF9	62802595	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.296000	0.78790	2.103000	0.63969	0.600000	0.82982	GAG		0.592	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056937.1				16	31	0	0	0	0.004007	0	16	31		
AMER1	139285	broad.mit.edu	37	X	63411969	63411969	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chrX:63411969C>A	ENST00000330258.3	-	2	1470	c.1198G>T	c.(1198-1200)Gag>Tag	p.E400*	AMER1_ENST00000374869.3_Nonsense_Mutation_p.E400*|AMER1_ENST00000403336.1_Nonsense_Mutation_p.E400*	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	400	Glu-rich.				adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									tcttcttcctcctccttaacc	0.512																																						uc004dvo.2		NaN																	67	Whole gene deletion(67)	p.0?(40)	kidney(65)|ovary(1)|large_intestine(1)	kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						c.(1198-1200)GAG>TAG		family with sequence similarity 123B							215.0	208.0	210.0					X																	63411969		2203	4300	6503	SO:0001587	stop_gained	139285				Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		g.chrX:63411969C>A	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.1198G>T	X.37:g.63411969C>A	ENSP00000329117:p.Glu400*						p.E400*	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN			2	1471	-			400			Glu-rich.		A2IB86|Q8N885	Nonsense_Mutation	SNP	ENST00000330258.3	37	c.1198G>T	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	C	39	7.315042	0.98207	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	.	.	.	4.75	4.75	0.60458	.	0.412856	0.20049	N	0.100356	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-0.0988	14.4088	0.67101	0.0:1.0:0.0:0.0	.	.	.	.	X	400	.	ENSP00000329117:E400X	E	-	1	0	FAM123B	63328694	0.002000	0.14202	0.326000	0.25389	0.920000	0.55202	1.761000	0.38440	2.369000	0.80426	0.600000	0.82982	GAG		0.512	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1		NM_152424		18	42	1	0	2.35188e-11	0.006122	2.49175e-11	18	42		
AMER1	139285	broad.mit.edu	37	X	63412290	63412290	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chrX:63412290C>T	ENST00000330258.3	-	2	1149	c.877G>A	c.(877-879)Gta>Ata	p.V293I	AMER1_ENST00000374869.3_Missense_Mutation_p.V293I|AMER1_ENST00000403336.1_Missense_Mutation_p.V293I	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	293					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									CCTGCTACTACCTTCTCCCCT	0.557																																						uc004dvo.2		NaN																	67	Whole gene deletion(67)	p.0?(40)	kidney(65)|ovary(1)|large_intestine(1)	kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						c.(877-879)GTA>ATA		family with sequence similarity 123B							96.0	90.0	92.0					X																	63412290		2203	4300	6503	SO:0001583	missense	139285				Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		g.chrX:63412290C>T	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.877G>A	X.37:g.63412290C>T	ENSP00000329117:p.Val293Ile						p.V293I	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN			2	1150	-			293					A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	c.877G>A	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	C	4.061	0.009045	0.07912	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.17528	2.27;2.27;2.27	5.22	0.4	0.16331	.	0.814128	0.11207	N	0.588128	T	0.13628	0.0330	L	0.57536	1.79	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.39165	-0.9627	10	0.20519	T	0.43	-0.7008	2.6844	0.05103	0.1284:0.5334:0.1223:0.2159	.	293	Q5JTC6	F123B_HUMAN	I	293	ENSP00000364003:V293I;ENSP00000329117:V293I;ENSP00000384722:V293I	ENSP00000329117:V293I	V	-	1	0	FAM123B	63329015	0.000000	0.05858	0.000000	0.03702	0.088000	0.18126	-0.223000	0.09177	-0.177000	0.10690	0.600000	0.82982	GTA		0.557	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1		NM_152424		46	103	0	0	0	0.011902	0	46	103		
AMER1	139285	broad.mit.edu	37	X	63412575	63412575	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chrX:63412575C>G	ENST00000330258.3	-	2	864	c.592G>C	c.(592-594)Gag>Cag	p.E198Q	AMER1_ENST00000374869.3_Missense_Mutation_p.E198Q|AMER1_ENST00000403336.1_Missense_Mutation_p.E198Q	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	198					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									CTGACCCTCTCAGGCCCCTTG	0.577																																						uc004dvo.2		NaN																	67	Whole gene deletion(67)	p.0?(40)	kidney(65)|ovary(1)|large_intestine(1)	kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						c.(592-594)GAG>CAG		family with sequence similarity 123B							49.0	44.0	46.0					X																	63412575		2203	4295	6498	SO:0001583	missense	139285				Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		g.chrX:63412575C>G	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.592G>C	X.37:g.63412575C>G	ENSP00000329117:p.Glu198Gln						p.E198Q	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN			2	865	-			198					A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	c.592G>C	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	C	9.922	1.212472	0.22289	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.18960	2.18;2.18;2.18	4.86	4.0	0.46444	.	0.698496	0.14359	N	0.324573	T	0.26882	0.0658	M	0.67953	2.075	0.09310	N	1	P	0.38335	0.627	B	0.40901	0.343	T	0.07790	-1.0754	10	0.35671	T	0.21	-2.1074	11.3278	0.49458	0.0:0.9082:0.0:0.0918	.	198	Q5JTC6	F123B_HUMAN	Q	198	ENSP00000364003:E198Q;ENSP00000329117:E198Q;ENSP00000384722:E198Q	ENSP00000329117:E198Q	E	-	1	0	FAM123B	63329300	0.025000	0.19082	0.012000	0.15200	0.077000	0.17291	1.679000	0.37597	1.159000	0.42565	0.600000	0.82982	GAG		0.577	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1		NM_152424		16	35	0	0	0	0.004007	0	16	35		
MAGEE1	57692	broad.mit.edu	37	X	75649248	75649248	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chrX:75649248C>T	ENST00000361470.2	+	1	1203	c.925C>T	c.(925-927)Cag>Tag	p.Q309*		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	309	Pro-rich.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CACCTCCGTGCAGCCCACTGC	0.692																																						uc004ecm.1		NaN																	0				breast(3)|ovary(1)|pancreas(1)|skin(1)	6						c.(925-927)CAG>TAG		melanoma antigen family E, 1							22.0	21.0	21.0					X																	75649248		2201	4296	6497	SO:0001587	stop_gained	57692					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		g.chrX:75649248C>T	AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.925C>T	X.37:g.75649248C>T	ENSP00000354912:p.Gln309*						p.Q309*	NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN			1	1132	+			309			Pro-rich.		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Nonsense_Mutation	SNP	ENST00000361470.2	37	c.925C>T	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	C	34	5.299352	0.95574	.	.	ENSG00000198934	ENST00000361470	.	.	.	1.61	1.61	0.23674	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	8.5566	0.33485	0.0:1.0:0.0:0.0	.	.	.	.	X	309	.	ENSP00000354912:Q309X	Q	+	1	0	MAGEE1	75565652	0.000000	0.05858	0.004000	0.12327	0.011000	0.07611	0.096000	0.15147	1.066000	0.40716	0.436000	0.28706	CAG		0.692	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1		NM_020932		3	22	0	0	0	0.004672	0	3	22		
DIAPH2	1730	broad.mit.edu	37	X	96854279	96854279	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chrX:96854279C>G	ENST00000324765.8	+	27	3616	c.3269C>G	c.(3268-3270)tCa>tGa	p.S1090*	DIAPH2_ENST00000373061.3_Nonsense_Mutation_p.S1090*|DIAPH2-AS1_ENST00000445414.1_RNA|DIAPH2_ENST00000373054.4_Nonsense_Mutation_p.S1086*			O60879	DIAP2_HUMAN	diaphanous-related formin 2	1090					actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						TTGGAAAGGTCACGCTCTCGC	0.353																																						uc004efu.3		NaN																	0				ovary(3)|lung(1)	4						c.(3268-3270)TCA>TGA		diaphanous 2 isoform 156							76.0	60.0	66.0					X																	96854279		2202	4300	6502	SO:0001587	stop_gained	1730				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	g.chrX:96854279C>G	Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.3269C>G	X.37:g.96854279C>G	ENSP00000321348:p.Ser1090*						p.S1090*	NM_006729	NP_006720	O60879	DIAP2_HUMAN			27	3665	+			1090					A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Nonsense_Mutation	SNP	ENST00000324765.8	37	c.3269C>G	CCDS14467.1	.	.	.	.	.	.	.	.	.	.	C	42	9.473355	0.99181	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000324765	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.0248	0.89265	0.0:1.0:0.0:0.0	.	.	.	.	X	1090;1086;1090	.	ENSP00000321348:S1090X	S	+	2	0	DIAPH2	96740935	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.232000	0.65332	2.279000	0.76181	0.436000	0.28706	TCA		0.353	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2		NM_006729, NM_007309		7	3	0	0	0	0.00308	0	7	3		
AVPR2	554	broad.mit.edu	37	X	153171751	153171751	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chrX:153171751C>T	ENST00000358927.2	+	3	1000	c.791C>T	c.(790-792)gCa>gTa	p.A264V	AVPR2_ENST00000370049.1_Missense_Mutation_p.A264V|AVPR2_ENST00000337474.5_Missense_Mutation_p.A264V			P30518	V2R_HUMAN	arginine vasopressin receptor 2	264					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|excretion (GO:0007588)|hemostasis (GO:0007599)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-gamma production (GO:0032609)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of systemic arterial blood pressure (GO:0003084)|response to cytokine (GO:0034097)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	vasopressin receptor activity (GO:0005000)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Desmopressin(DB00035)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	CACGTGTCAGCAGCTGTGGCC	0.657																																						uc004fjh.3		NaN																	0				breast(1)	1						c.(790-792)GCA>GTA		arginine vasopressin receptor 2 isoform 1	Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)						153.0	116.0	129.0					X																	153171751		2203	4300	6503	SO:0001583	missense	554				activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity	g.chrX:153171751C>T	Z11687	CCDS14735.1, CCDS55539.1	Xq28	2014-09-17	2008-08-01		ENSG00000126895	ENSG00000126895		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	897	protein-coding gene	gene with protein product	"""nephrogenic diabetes insipidus"""	300538		DIR3, DIR		1324225	Standard	NM_000054		Approved	V2R	uc004fjh.4	P30518	OTTHUMG00000024227	ENST00000358927.2:c.791C>T	X.37:g.153171751C>T	ENSP00000351805:p.Ala264Val					AVPR2_uc004fjg.3_Missense_Mutation_p.A53V|AVPR2_uc004fji.2_Missense_Mutation_p.A264V	p.A264V	NM_000054	NP_000045	P30518	V2R_HUMAN			2	862	+	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		264			Cytoplasmic (Potential).		C5HF20|O43192|Q3MJD3|Q9UCV9	Missense_Mutation	SNP	ENST00000358927.2	37	c.791C>T	CCDS14735.1	.	.	.	.	.	.	.	.	.	.	c	11.32	1.605206	0.28623	.	.	ENSG00000126895	ENST00000358927;ENST00000430697;ENST00000337474;ENST00000370049	T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65	3.56	2.57	0.30868	GPCR, rhodopsin-like superfamily (1);	0.898318	0.09770	N	0.758080	T	0.70369	0.3216	L	0.59436	1.845	0.09310	N	1	P;P	0.37731	0.552;0.607	B;B	0.42692	0.274;0.395	T	0.61869	-0.6974	10	0.51188	T	0.08	-9.9476	10.3083	0.43693	0.0:0.6936:0.3064:0.0	.	264;264	P30518-2;P30518	.;V2R_HUMAN	V	264	ENSP00000351805:A264V;ENSP00000393513:A264V;ENSP00000338072:A264V;ENSP00000359066:A264V	ENSP00000338072:A264V	A	+	2	0	AVPR2	152824945	0.000000	0.05858	0.299000	0.25016	0.475000	0.33008	-0.325000	0.07976	1.732000	0.51606	0.263000	0.19301	GCA		0.657	AVPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061127.2				19	18	0	0	0	0.007413	0	19	18		
TMCO2	127391	broad.mit.edu	37	1	40713708	40713709	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:40713708_40713709delTC	ENST00000372766.3	+	1	136_137	c.43_44delTC	c.(43-45)tctfs	p.S15fs	TMCO2_ENST00000468258.1_Intron	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	15						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			CCTCTTAGAGTCTCTCTCTCTC	0.406																																						uc001cfe.2		NaN																	0				ovary(1)	1						c.(43-45)TCTfs		transmembrane and coiled-coil domains 2																																				SO:0001589	frameshift_variant	127391					integral to membrane		g.chr1:40713708_40713709delTC	AL050341	CCDS30684.1	1p34.2	2014-02-12			ENSG00000188800	ENSG00000188800			23312	protein-coding gene	gene with protein product							Standard	NM_001008740		Approved	dJ39G22.2	uc001cfe.2	Q7Z6W1	OTTHUMG00000005764	ENST00000372766.3:c.43_44delTC	1.37:g.40713718_40713719delTC	ENSP00000361852:p.Ser15fs						p.S15fs	NM_001008740	NP_001008740	Q7Z6W1	TMCO2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)		1	136_137	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	15						Frame_Shift_Del	DEL	ENST00000372766.3	37	c.43_44delTC	CCDS30684.1																																																																																				0.406	TMCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015769.1		NM_001008740		8	511	NaN	NaN	NaN	NaN	NaN	8	511	---	---
PIK3C2B	5287	broad.mit.edu	37	1	204412694	204412697	+	Frame_Shift_Del	DEL	ACTG	ACTG	-			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:204412694_204412697delACTG	ENST00000367187.3	-	20	3452_3455	c.2896_2899delCAGT	c.(2896-2901)cagttcfs	p.QF966fs	PIK3C2B_ENST00000424712.2_Frame_Shift_Del_p.QF938fs	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	966	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CGGATGCTGAACTGAGAGTCCTTG	0.569																																						uc001haw.2		NaN																	0				lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7						c.(2896-2901)CAGTTCfs		phosphoinositide-3-kinase, class 2 beta																																				SO:0001589	frameshift_variant	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204412694_204412697delACTG	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.2896_2899delCAGT	1.37:g.204412694_204412697delACTG	ENSP00000356155:p.Gln966fs					PIK3C2B_uc010pqv.1_Frame_Shift_Del_p.Q938fs	p.Q966fs	NM_002646	NP_002637	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		20	3375_3378	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		966_967					O95666|Q5SW99	Frame_Shift_Del	DEL	ENST00000367187.3	37	c.2896_2899delCAGT	CCDS1446.1																																																																																				0.569	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1		NM_002646		37	254	NaN	NaN	NaN	NaN	NaN	37	254	---	---
SMARCC2	6601	broad.mit.edu	37	12	56559126	56559127	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:56559126_56559127insG	ENST00000267064.4	-	26	3200_3201	c.3114_3115insC	c.(3112-3117)ccagggfs	p.G1039fs	SMARCC2_ENST00000550164.1_Frame_Shift_Ins_p.G1070fs|SMARCC2_ENST00000347471.4_Frame_Shift_Ins_p.G1070fs|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000394023.3_Frame_Shift_Ins_p.G1070fs	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1039	Pro-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GGGGGAACCCCTGGTGGGACTG	0.584																																						uc001skb.2		NaN																	0				lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6						c.(3112-3117)CCAGGGfs		SWI/SNF-related matrix-associated																																				SO:0001589	frameshift_variant	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56559126_56559127insG	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.3114_3115insC	12.37:g.56559126_56559127insG	ENSP00000267064:p.Gly1039fs					SMARCC2_uc001skd.2_Frame_Shift_Ins_p.P1069fs|SMARCC2_uc001ska.2_Frame_Shift_Ins_p.P1069fs|SMARCC2_uc001skc.2_Frame_Shift_Ins_p.P1068fs|SMARCC2_uc010sqf.1_Frame_Shift_Ins_p.P958fs	p.P1038fs	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		26	3220_3221	-			1038_1039			Pro-rich.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Frame_Shift_Ins	INS	ENST00000267064.4	37	c.3114_3115insC	CCDS8907.1																																																																																				0.584	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1				8	168	NaN	NaN	NaN	NaN	NaN	8	168	---	---
CLIP1	6249	broad.mit.edu	37	12	122812690	122812691	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:122812690_122812691insT	ENST00000540338.1	-	16	3093_3094	c.3052_3053insA	c.(3052-3054)agcfs	p.S1018fs	CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.S972fs|CLIP1_ENST00000358808.2_Frame_Shift_Ins_p.S1007fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.S593fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.S896fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.S1007fs			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1018					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTGGTTGTGGCTTGTTTCCATT	0.505																																						uc001ucg.1		NaN																	0				ovary(2)|breast(1)	3						c.(3052-3054)AGCfs		restin isoform a																																				SO:0001589	frameshift_variant	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122812690_122812691insT		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.3053dupA	12.37:g.122812692_122812692dupT	ENSP00000439093:p.Ser1018fs					CLIP1_uc001uch.1_Frame_Shift_Ins_p.S1007fs|CLIP1_uc001uci.1_Frame_Shift_Ins_p.S972fs|CLIP1_uc001ucj.1_Frame_Shift_Ins_p.S593fs	p.S1018fs	NM_002956	NP_002947	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	16	3158_3159	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1018			Potential.		A0AVD3|Q17RS4|Q29RG0	Frame_Shift_Ins	INS	ENST00000540338.1	37	c.3052_3053insA	CCDS58285.1																																																																																				0.505	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1		NM_002956		11	220	NaN	NaN	NaN	NaN	NaN	11	220	---	---
HERC2	8924	broad.mit.edu	37	15	28511100	28511101	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr15:28511100_28511101insC	ENST00000261609.7	-	13	1726_1727	c.1618_1619insG	c.(1618-1620)gtgfs	p.V540fs		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GGCGGAGATCACCTTAGGCTCC	0.51																																						uc001zbj.2		NaN																	0				ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(1618-1620)GTGfs		hect domain and RLD 2																																				SO:0001589	frameshift_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28511100_28511101insC	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.1619dupG	15.37:g.28511102_28511102dupC	ENSP00000261609:p.Val540fs					HERC2_uc001zbl.1_Frame_Shift_Ins_p.V235fs	p.V540fs	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	13	1724_1725	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	540			RCC1 1.			Frame_Shift_Ins	INS	ENST00000261609.7	37	c.1618_1619insG	CCDS10021.1																																																																																				0.510	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2		NM_004667		7	54	NaN	NaN	NaN	NaN	NaN	7	54	---	---
ASXL2	55252	broad.mit.edu	37	2	26022304	26022306	+	In_Frame_Del	DEL	CTG	CTG	-	rs539079430		TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:26022304_26022306delCTG	ENST00000435504.4	-	5	644_646	c.351_353delCAG	c.(349-354)agcagt>agt	p.117_118SS>S	ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000336112.4_In_Frame_Del_p.89_90SS>S|ASXL2_ENST00000497092.1_5'UTR			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	117	Ser-rich.				adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCACCATCACTGCTGCTGCTGC	0.463																																						uc002rgs.2		NaN																	0				pancreas(1)	1						c.(349-354)AGCAGT>AGT		additional sex combs like 2																																				SO:0001651	inframe_deletion	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:26022304_26022306delCTG			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.351_353delCAG	2.37:g.26022313_26022315delCTG	ENSP00000391447:p.Ser118del						p.117_118SS>S	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN			4	572_574	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		117_118			Ser-rich.		Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	In_Frame_Del	DEL	ENST00000435504.4	37	c.351_353delCAG																																																																																					0.463	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3		NM_018263		7	234	NaN	NaN	NaN	NaN	NaN	7	234	---	---
ERBB2IP	55914	broad.mit.edu	37	5	65349986	65349987	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr5:65349986_65349987insT	ENST00000284037.5	+	21	3229_3230	c.2840_2841insT	c.(2839-2844)gattcafs	p.S948fs	ERBB2IP_ENST00000380943.2_Frame_Shift_Ins_p.S948fs|ERBB2IP_ENST00000380938.2_Frame_Shift_Ins_p.S948fs|ERBB2IP_ENST00000380936.1_Frame_Shift_Ins_p.S948fs|ERBB2IP_ENST00000506030.1_Frame_Shift_Ins_p.S948fs|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380939.2_Frame_Shift_Ins_p.S948fs|ERBB2IP_ENST00000508515.1_Frame_Shift_Ins_p.S948fs|ERBB2IP_ENST00000380935.1_Frame_Shift_Ins_p.S948fs|ERBB2IP_ENST00000511297.1_Frame_Shift_Ins_p.S944fs	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	948					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		TTCAAGTTTGATTCAAATCATA	0.386																																						uc003juk.1		NaN																	0				ovary(3)|lung(2)|central_nervous_system(2)	7						c.(2839-2841)GATfs		ERBB2 interacting protein isoform 2																																				SO:0001589	frameshift_variant	55914				basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton	g.chr5:65349986_65349987insT		CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.2842dupT	5.37:g.65349988_65349988dupT	ENSP00000284037:p.Ser948fs					ERBB2IP_uc003jui.1_Frame_Shift_Ins_p.D947fs|ERBB2IP_uc003juj.1_Frame_Shift_Ins_p.D947fs|ERBB2IP_uc011cqx.1_Frame_Shift_Ins_p.D947fs|ERBB2IP_uc011cqy.1_Frame_Shift_Ins_p.D947fs|ERBB2IP_uc011cqz.1_Intron|ERBB2IP_uc010iwx.1_Frame_Shift_Ins_p.D943fs|ERBB2IP_uc003jul.1_Frame_Shift_Ins_p.D943fs	p.D947fs	NM_018695	NP_061165	Q96RT1	LAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)	21	3148_3149	+		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)	947					A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Frame_Shift_Ins	INS	ENST00000284037.5	37	c.2840_2841insT	CCDS58953.1																																																																																				0.386	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1		NM_018695		13	69	NaN	NaN	NaN	NaN	NaN	13	69	---	---
FAM120B	84498	broad.mit.edu	37	6	170697422	170697423	+	Frame_Shift_Ins	INS	-	-	CG			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:170697422_170697423insCG	ENST00000476287.1	+	7	2439_2440	c.2331_2332insCG	c.(2332-2334)cgcfs	p.R778fs	FAM120B_ENST00000537664.1_Frame_Shift_Ins_p.R801fs|FAM120B_ENST00000540480.1_Frame_Shift_Ins_p.R790fs|FAM120B_ENST00000252510.9_Frame_Shift_Ins_p.R110fs	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	778					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		CCCTTCTCGTCCGCGGCCTCAC	0.525																																						uc003qxp.2		NaN																	0				ovary(1)	1						c.(2329-2334)GTCCGCfs		family with sequence similarity 120B																																				SO:0001589	frameshift_variant	84498				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:170697422_170697423insCG	AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"""PPARgamma constitutive coactivator 1"", ""constitutive coactivator of PPAR-gamma"""	612266	"""KIAA1838"""	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.2334_2335dupCG	6.37:g.170697425_170697426dupCG	ENSP00000417970:p.Arg778fs					FAM120B_uc003qxo.1_Frame_Shift_Ins_p.V777fs|FAM120B_uc011ehd.1_Frame_Shift_Ins_p.V109fs|FAM120B_uc010kla.1_RNA	p.V777fs	NM_032448	NP_115824	Q96EK7	F120B_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)	7	2439_2440	+		Breast(66;0.000338)|Esophageal squamous(34;0.241)	777_778					B4DL34|Q86V68|Q96JI9	Frame_Shift_Ins	INS	ENST00000476287.1	37	c.2331_2332insCG	CCDS5314.1																																																																																				0.525	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2		NM_032448		17	53	NaN	NaN	NaN	NaN	NaN	17	53	---	---
PMS2	5395	broad.mit.edu	37	7	6043619	6043621	+	In_Frame_Del	DEL	TTC	TTC	-	rs386833411		TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr7:6043619_6043621delTTC	ENST00000265849.7	-	3	337_339	c.232_234delGAA	c.(232-234)gaadel	p.E78del	PMS2_ENST00000406569.3_In_Frame_Del_p.E78del|PMS2_ENST00000441476.2_In_Frame_Del_p.R6del|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000382321.4_In_Frame_Del_p.E78del|Y_RNA_ENST00000365120.1_RNA	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	78					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CTTCGAAGTTTTCTTCTTCTACC	0.315			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													uc003spl.2		NaN	yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	7	7p22	5395	Mis|N|F	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)			E		colorectal|endometrial|ovarian|medulloblastoma|glioma			0				lung(1)|central_nervous_system(1)	2						c.(232-234)GAAdel	Direct_reversal_of_damage|MMR	PMS2 postmeiotic segregation increased 2 isoform																																				SO:0001651	inframe_deletion	5395	Lynch_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding	g.chr7:6043619_6043621delTTC		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.232_234delGAA	7.37:g.6043625_6043627delTTC	ENSP00000265849:p.Glu78del					PMS2_uc003spj.2_In_Frame_Del_p.R6del|PMS2_uc003spk.2_5'UTR|PMS2_uc011jwl.1_5'UTR|PMS2_uc010ktg.2_5'UTR|PMS2_uc010kte.2_In_Frame_Del_p.E78del|PMS2_uc010ktf.1_In_Frame_Del_p.E78del	p.E78del	NM_000535	NP_000526	P54278	PMS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)	3	319_321	-		Ovarian(82;0.0694)	78					B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	In_Frame_Del	DEL	ENST00000265849.7	37	c.232_234delGAA	CCDS5343.1																																																																																				0.315	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3		NM_000535		29	301	NaN	NaN	NaN	NaN	NaN	29	301	---	---
