#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
MFN2	9927	broad.mit.edu	37	1	12065806	12065806	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr1:12065806C>G	ENST00000235329.5	+	15	1856	c.1534C>G	c.(1534-1536)Cag>Gag	p.Q512E	MFN2_ENST00000444836.1_Missense_Mutation_p.Q512E	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	512					apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		TGTGCGGAGTCAGATAGACAT	0.512																																						uc001atn.3		NaN																	0				ovary(1)	1						c.(1534-1536)CAG>GAG		mitofusin 2							258.0	251.0	253.0					1																	12065806		2203	4300	6503	SO:0001583	missense	9927				blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr1:12065806C>G	AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688			16877	protein-coding gene	gene with protein product		608507				12499352, 11181170	Standard	NM_014874		Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.1534C>G	1.37:g.12065806C>G	ENSP00000235329:p.Gln512Glu					MFN2_uc009vni.2_Missense_Mutation_p.Q512E	p.Q512E	NM_014874	NP_055689	O95140	MFN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)	15	1987	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	512			Cytoplasmic (Potential).		A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Missense_Mutation	SNP	ENST00000235329.5	37	c.1534C>G	CCDS30587.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.556181	0.65425	.	.	ENSG00000116688	ENST00000444836;ENST00000235329;ENST00000376337	D;D	0.86097	-2.07;-2.07	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.82328	0.5013	M	0.64170	1.965	0.80722	D	1	B	0.30793	0.295	B	0.33521	0.165	T	0.77286	-0.2644	10	0.05436	T	0.98	-17.6346	17.7438	0.88414	0.0:1.0:0.0:0.0	.	512	O95140	MFN2_HUMAN	E	512;512;210	ENSP00000416338:Q512E;ENSP00000235329:Q512E	ENSP00000235329:Q512E	Q	+	1	0	MFN2	11988393	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	5.479000	0.66813	2.753000	0.94483	0.555000	0.69702	CAG		0.512	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006859.2		NM_014874		78	287	0	0	0	0.00361	0	78	287		
EYA3	2140	broad.mit.edu	37	1	28362171	28362171	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr1:28362171G>C	ENST00000373871.3	-	6	485	c.245C>G	c.(244-246)tCa>tGa	p.S82*	EYA3_ENST00000373864.1_Intron|EYA3_ENST00000373863.3_Nonsense_Mutation_p.S82*|EYA3_ENST00000540618.1_Nonsense_Mutation_p.S82*|EYA3_ENST00000545175.1_Nonsense_Mutation_p.S29*|EYA3_ENST00000436342.2_5'UTR|EYA3_ENST00000471498.1_5'UTR	NM_001282561.1|NM_001282562.1	NP_001269490.1|NP_001269491.1	Q99504	EYA3_HUMAN	EYA transcriptional coactivator and phosphatase 3	82					anatomical structure morphogenesis (GO:0009653)|double-strand break repair (GO:0006302)|histone dephosphorylation (GO:0016576)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of DNA repair (GO:0045739)|regulation of transcription, DNA-templated (GO:0006355)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		AACAGGAACTGAGAGAATATG	0.398																																						uc001bpi.1		NaN																	0				ovary(2)|skin(1)	3						c.(244-246)TCA>TGA		eyes absent 3							176.0	169.0	172.0					1																	28362171		2203	4300	6503	SO:0001587	stop_gained	2140				anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity	g.chr1:28362171G>C	U81602	CCDS316.1, CCDS60050.1, CCDS60051.1, CCDS60052.1	1p36	2014-06-19	2014-06-19		ENSG00000158161	ENSG00000158161		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3521	protein-coding gene	gene with protein product		601655	"""eyes absent (Drosophila) homolog 3"", ""eyes absent homolog 3 (Drosophila)"""			9020840	Standard	NM_001990		Approved	DKFZp686C132	uc001bpi.2	Q99504	OTTHUMG00000003916	ENST00000373871.3:c.245C>G	1.37:g.28362171G>C	ENSP00000362978:p.Ser82*					EYA3_uc010ofs.1_Nonsense_Mutation_p.S29*|EYA3_uc010oft.1_Nonsense_Mutation_p.S82*|EYA3_uc001bpj.2_Nonsense_Mutation_p.S82*|EYA3_uc001bpk.1_RNA|EYA3_uc010ofu.1_RNA	p.S82*	NM_001990	NP_001981	Q99504	EYA3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)	6	410	-		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	82					A8K190|B4DIR7|B4DNZ7|O95463|Q8IVX7|Q99813	Nonsense_Mutation	SNP	ENST00000373871.3	37	c.245C>G	CCDS316.1	.	.	.	.	.	.	.	.	.	.	G	39	7.615216	0.98390	.	.	ENSG00000158161	ENST00000373871;ENST00000540618;ENST00000545175;ENST00000373863	.	.	.	5.29	5.29	0.74685	.	0.259771	0.37623	N	0.002010	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-5.5115	19.2831	0.94060	0.0:0.0:1.0:0.0	.	.	.	.	X	82;82;29;82	.	ENSP00000362970:S82X	S	-	2	0	EYA3	28234758	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.140000	0.77322	2.627000	0.88993	0.655000	0.94253	TCA		0.398	EYA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011184.1		NM_001990		7	134	0	0	0	0.001984	0	7	134		
PHACTR4	65979	broad.mit.edu	37	1	28817515	28817515	+	Silent	SNP	C	C	G	rs542284544		TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr1:28817515C>G	ENST00000373839.3	+	11	2130	c.1869C>G	c.(1867-1869)ctC>ctG	p.L623L	PHACTR4_ENST00000373836.3_Silent_p.L633L|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	623					actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		AACGTCGGCTCACTAGAAAGG	0.388																																						uc001bpw.2		NaN																	0					0						c.(1867-1869)CTC>CTG		phosphatase and actin regulator 4 isoform 1							114.0	114.0	114.0					1																	28817515		1895	4117	6012	SO:0001819	synonymous_variant	65979						actin binding|protein phosphatase inhibitor activity	g.chr1:28817515C>G	AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"""Phosphatase and actin regulators"""	25793	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 124"""	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.1869C>G	1.37:g.28817515C>G						PHACTR4_uc001bpv.1_RNA|PHACTR4_uc001bpx.2_Silent_p.L607L|PHACTR4_uc001bpy.2_Silent_p.L633L|PHACTR4_uc001bpz.2_5'Flank	p.L623L	NM_001048183	NP_001041648	Q8IZ21	PHAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)	11	2151	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	623			RPEL 3.		A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Silent	SNP	ENST00000373839.3	37	c.1869C>G	CCDS41293.1																																																																																				0.388	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4		NM_023923		9	74	0	0	0	0.004482	0	9	74		
KDM4A	9682	broad.mit.edu	37	1	44156655	44156655	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr1:44156655A>T	ENST00000372396.3	+	14	2311	c.2177A>T	c.(2176-2178)tAt>tTt	p.Y726F		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	726					cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						TCTACTCCTTATCTTGAGGAG	0.532																																						uc001cjx.2		NaN																	0				skin(1)	1						c.(2176-2178)TAT>TTT		jumonji domain containing 2A							282.0	266.0	272.0					1																	44156655		2203	4300	6503	SO:0001583	missense	9682				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr1:44156655A>T	AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	22978	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 3A"", ""tudor domain containing 14A"""	609764	"""jumonji domain containing 2"", ""jumonji domain containing 2A"""	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.2177A>T	1.37:g.44156655A>T	ENSP00000361473:p.Tyr726Phe					KDM4A_uc010oki.1_Intron	p.Y726F	NM_014663	NP_055478	O75164	KDM4A_HUMAN			14	2343	+			726			PHD-type 1.		Q5VVB1	Missense_Mutation	SNP	ENST00000372396.3	37	c.2177A>T	CCDS491.1	.	.	.	.	.	.	.	.	.	.	A	13.03	2.114238	0.37339	.	.	ENSG00000066135	ENST00000372396	T	0.15139	2.45	5.43	5.43	0.79202	Zinc finger, PHD-type (1);	0.286751	0.40554	N	0.001069	T	0.10337	0.0253	N	0.20483	0.58	0.35702	D	0.815694	B	0.12630	0.006	B	0.08055	0.003	T	0.23691	-1.0181	10	0.13853	T	0.58	-15.4069	10.6954	0.45896	0.8576:0.0:0.0:0.1424	.	726	O75164	KDM4A_HUMAN	F	726	ENSP00000361473:Y726F	ENSP00000361473:Y726F	Y	+	2	0	KDM4A	43929242	1.000000	0.71417	0.986000	0.45419	0.334000	0.28698	5.256000	0.65468	2.064000	0.61679	0.460000	0.39030	TAT		0.532	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019960.1		NM_014663		60	379	0	0	0	0.00361	0	60	379		
DENND2C	163259	broad.mit.edu	37	1	115168392	115168392	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr1:115168392C>T	ENST00000393274.1	-	4	839	c.214G>A	c.(214-216)Gat>Aat	p.D72N	DENND2C_ENST00000393277.1_Missense_Mutation_p.D72N|DENND2C_ENST00000481894.1_5'Flank|DENND2C_ENST00000393276.3_Missense_Mutation_p.D72N	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	72					positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGGTTACATCCAAGTTTTTG	0.363																																						uc001efd.1		NaN																	0				skin(3)	3						c.(214-216)GAT>AAT		DENN/MADD domain containing 2C							164.0	171.0	169.0					1																	115168392		2203	4300	6503	SO:0001583	missense	163259							g.chr1:115168392C>T		CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"""DENN/MADD domain containing"""	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.214G>A	1.37:g.115168392C>T	ENSP00000376955:p.Asp72Asn					DENND2C_uc001eez.2_RNA|DENND2C_uc001efc.1_Missense_Mutation_p.D72N	p.D72N	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	916	-	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	72					B1AL26|Q5TCX6|Q6P3R3	Missense_Mutation	SNP	ENST00000393274.1	37	c.214G>A	CCDS58018.1	.	.	.	.	.	.	.	.	.	.	C	3.080	-0.189248	0.06299	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	T;T;T	0.09911	3.64;3.66;2.93	5.38	4.47	0.54385	.	7.452280	0.00166	N	0.000000	T	0.04272	0.0118	L	0.40543	1.245	0.09310	N	1	B;B	0.31383	0.072;0.321	B;B	0.28784	0.058;0.094	T	0.39840	-0.9594	10	0.29301	T	0.29	.	11.3447	0.49554	0.0:0.8536:0.0:0.1464	.	72;72	Q68D51;Q68D51-3	DEN2C_HUMAN;.	N	72	ENSP00000376957:D72N;ENSP00000376955:D72N;ENSP00000376958:D72N	ENSP00000358553:D72N	D	-	1	0	DENND2C	114969915	0.001000	0.12720	0.004000	0.12327	0.045000	0.14185	1.383000	0.34385	1.283000	0.44513	0.644000	0.83932	GAT		0.363	DENND2C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000314822.1		NM_198459		26	171	0	0	0	0.003954	0	26	171		
FLG2	388698	broad.mit.edu	37	1	152323576	152323576	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr1:152323576G>A	ENST00000388718.5	-	3	6758	c.6686C>T	c.(6685-6687)aCc>aTc	p.T2229I	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2229					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGTCTAGTGGTATCTCCTGT	0.527																																						uc001ezw.3		NaN																	0				ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(6685-6687)ACC>ATC		filaggrin family member 2							442.0	396.0	412.0					1																	152323576		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152323576G>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.6686C>T	1.37:g.152323576G>A	ENSP00000373370:p.Thr2229Ile					uc001ezv.2_Intron	p.T2229I	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6759	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2229					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.6686C>T	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.140526	0.37825	.	.	ENSG00000143520	ENST00000388718	T	0.02015	4.5	3.52	-0.857	0.10693	.	.	.	.	.	T	0.02267	0.0070	M	0.61703	1.905	0.09310	N	1	D	0.54964	0.969	D	0.63381	0.914	T	0.40534	-0.9558	9	0.45353	T	0.12	0.2743	2.7631	0.05312	0.1065:0.3534:0.3718:0.1683	.	2229	Q5D862	FILA2_HUMAN	I	2229	ENSP00000373370:T2229I	ENSP00000373370:T2229I	T	-	2	0	FLG2	150590200	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.347000	0.02632	-0.116000	0.11893	-0.290000	0.09829	ACC		0.527	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5		NM_001014342		203	475	0	0	0	0.00361	0	203	475		
FLG2	388698	broad.mit.edu	37	1	152325626	152325626	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr1:152325626G>T	ENST00000388718.5	-	3	4708	c.4636C>A	c.(4636-4638)Cag>Aag	p.Q1546K	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1546					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTCCTGTCTGTCCATGAGTA	0.483																																						uc001ezw.3		NaN																	0				ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(4636-4638)CAG>AAG		filaggrin family member 2							288.0	273.0	278.0					1																	152325626		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152325626G>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.4636C>A	1.37:g.152325626G>T	ENSP00000373370:p.Gln1546Lys					uc001ezv.2_Intron	p.Q1546K	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4709	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1546					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.4636C>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	g	12.45	1.942181	0.34283	.	.	ENSG00000143520	ENST00000388718	T	0.50548	0.74	4.03	4.03	0.46877	.	.	.	.	.	T	0.34308	0.0893	M	0.76838	2.35	0.09310	N	1	D	0.55172	0.97	P	0.48704	0.587	T	0.43196	-0.9406	9	0.06494	T	0.89	-0.7096	12.1598	0.54098	0.0:0.0:1.0:0.0	.	1546	Q5D862	FILA2_HUMAN	K	1546	ENSP00000373370:Q1546K	ENSP00000373370:Q1546K	Q	-	1	0	FLG2	150592250	0.000000	0.05858	0.006000	0.13384	0.079000	0.17450	0.363000	0.20301	2.005000	0.58758	0.297000	0.19635	CAG		0.483	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5		NM_001014342		65	434	1	0	7.82978e-24	0.00361	8.90638e-24	65	434		
PBXIP1	57326	broad.mit.edu	37	1	154920741	154920741	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr1:154920741G>C	ENST00000368463.3	-	6	582	c.511C>G	c.(511-513)Cag>Gag	p.Q171E	PBXIP1_ENST00000539880.1_Intron|PBXIP1_ENST00000542459.1_Missense_Mutation_p.Q16E|PBXIP1_ENST00000368460.3_Missense_Mutation_p.Q171E|PBXIP1_ENST00000498553.1_5'UTR|PBXIP1_ENST00000368465.1_Missense_Mutation_p.Q142E	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	171					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)	cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ACCATGGGCTGAGGTGGGCCG	0.692																																						uc001ffr.2		NaN																	0				large_intestine(1)	1						c.(511-513)CAG>GAG		pre-B-cell leukemia homeobox interacting protein							22.0	22.0	22.0					1																	154920741		2200	4299	6499	SO:0001583	missense	57326				cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity	g.chr1:154920741G>C	AF221521	CCDS1074.1	1q22	2008-02-05	2007-01-30		ENSG00000163346	ENSG00000163346			21199	protein-coding gene	gene with protein product			"""pre-B-cell leukemia transcription factor interacting protein 1"""			7505766, 10825160	Standard	NM_020524		Approved	HPIP	uc001ffr.3	Q96AQ6	OTTHUMG00000037369	ENST00000368463.3:c.511C>G	1.37:g.154920741G>C	ENSP00000357448:p.Gln171Glu					PBXIP1_uc001ffs.2_Missense_Mutation_p.Q142E|PBXIP1_uc010pep.1_Missense_Mutation_p.Q16E	p.Q171E	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		6	570	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		171					Q5T174|Q5T176|Q9H8X6|Q9HA02|Q9HD85	Missense_Mutation	SNP	ENST00000368463.3	37	c.511C>G	CCDS1074.1	.	.	.	.	.	.	.	.	.	.	G	3.825	-0.037055	0.07497	.	.	ENSG00000163346	ENST00000368465;ENST00000368463;ENST00000351146;ENST00000542459;ENST00000368460	T;T;T;T	0.15139	2.45;2.45;2.45;2.45	4.64	2.66	0.31614	.	1.390710	0.04590	N	0.396537	T	0.05456	0.0144	M	0.63428	1.95	0.09310	N	1	B	0.27732	0.187	B	0.28011	0.085	T	0.44143	-0.9347	10	0.02654	T	1	-6.4042	7.4279	0.27109	0.0923:0.0:0.7414:0.1662	.	171	Q96AQ6	PBIP1_HUMAN	E	142;171;171;16;171	ENSP00000357450:Q142E;ENSP00000357448:Q171E;ENSP00000438584:Q16E;ENSP00000357445:Q171E	ENSP00000295523:Q171E	Q	-	1	0	PBXIP1	153187365	0.354000	0.24912	0.025000	0.17156	0.044000	0.14063	4.094000	0.57721	1.117000	0.41842	0.563000	0.77884	CAG		0.692	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090943.1		NM_020524		5	13	0	0	0	0.001168	0	5	13		
ZBTB7B	51043	broad.mit.edu	37	1	154988787	154988787	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr1:154988787G>A	ENST00000368426.3	+	4	1383	c.1246G>A	c.(1246-1248)Gac>Aac	p.D416N	ZBTB7B_ENST00000535420.1_Missense_Mutation_p.D416N|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.D416N|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.D450N	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	416					cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCACAGCTACGACCTCAAGAA	0.627																																						uc001fgk.3		NaN																	0					0						c.(1246-1248)GAC>AAC		zinc finger and BTB domain containing 7B							111.0	96.0	101.0					1																	154988787		2203	4300	6503	SO:0001583	missense	51043				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:154988787G>A	AF007833	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18668	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 15"""	607646	"""zinc finger protein 67 homolog (mouse)"""	ZFP67		9370309, 7937772	Standard	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	O15156	OTTHUMG00000037414	ENST00000368426.3:c.1246G>A	1.37:g.154988787G>A	ENSP00000357411:p.Asp416Asn					ZBTB7B_uc009wpa.2_Missense_Mutation_p.D416N|ZBTB7B_uc001fgj.3_Missense_Mutation_p.D450N|ZBTB7B_uc010peq.1_Missense_Mutation_p.D450N|ZBTB7B_uc001fgl.3_Missense_Mutation_p.D416N	p.D416N	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		4	1404	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		416			C2H2-type 3.		B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Missense_Mutation	SNP	ENST00000368426.3	37	c.1246G>A	CCDS1081.1	.	.	.	.	.	.	.	.	.	.	g	13.82	2.351905	0.41700	.	.	ENSG00000160685	ENST00000535420;ENST00000368426;ENST00000417934;ENST00000292176	T;T;T;T	0.07567	3.18;3.18;3.18;3.18	3.77	2.85	0.33270	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	U	0.000000	T	0.01387	0.0045	N	0.05619	-0.005	0.43703	D	0.996167	B;B;B	0.22746	0.074;0.074;0.074	B;B;B	0.23150	0.044;0.044;0.044	T	0.45556	-0.9253	10	0.20519	T	0.43	.	9.2746	0.37692	0.1108:0.0:0.8892:0.0	.	416;416;450	A8K6F4;O15156;B4E3K5	.;ZBT7B_HUMAN;.	N	416;416;450;416	ENSP00000438647:D416N;ENSP00000357411:D416N;ENSP00000406286:D450N;ENSP00000292176:D416N	ENSP00000292176:D416N	D	+	1	0	ZBTB7B	153255411	1.000000	0.71417	0.999000	0.59377	0.130000	0.20726	9.369000	0.97156	0.930000	0.37217	-0.389000	0.06534	GAC		0.627	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091083.1		NM_015872		32	91	0	0	0	0.008361	0	32	91		
DPM3	54344	broad.mit.edu	37	1	155112686	155112686	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr1:155112686G>A	ENST00000341298.3	-	2	166	c.31C>T	c.(31-33)Cta>Tta	p.L11L	DPM3_ENST00000368399.1_Silent_p.L41L|DPM3_ENST00000368400.4_Silent_p.L11L			Q9P2X0	DPM3_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 3	11					C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan (GO:0018406)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)|regulation of protein stability (GO:0031647)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|mannosyltransferase complex (GO:0031501)|membrane (GO:0016020)				endometrium(2)	2	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGGATCGCTAGTCCCCAAAGC	0.607																																						uc001fhn.2		NaN																	0					0						c.(31-33)CTA>TTA		dolichyl-phosphate mannosyltransferase							37.0	39.0	38.0					1																	155112686		2203	4300	6503	SO:0001819	synonymous_variant	54344				C-terminal protein lipidation|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan|protein N-linked glycosylation via asparagine|protein O-linked mannosylation|regulation of protein stability	dolichol-phosphate-mannose synthase complex|integral to endoplasmic reticulum membrane	protein binding	g.chr1:155112686G>A	AB028128	CCDS1094.1, CCDS1095.1	1q22	2013-02-26			ENSG00000179085	ENSG00000179085			3007	protein-coding gene	gene with protein product	"""DPM synthase complex subunit"""	605951				10835346	Standard	NM_018973		Approved	MGC34275, MGC125904, MGC125905	uc001fhm.3	Q9P2X0	OTTHUMG00000035335	ENST00000341298.3:c.31C>T	1.37:g.155112686G>A						RAG1AP1_uc010pey.1_Intron|DPM3_uc001fhm.2_Silent_p.L41L	p.L11L	NM_153741	NP_714963	Q9P2X0	DPM3_HUMAN	Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)		2	66	-	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		11			Helical; (Potential).		Q5SR62|Q5SR63|Q9BXN4|Q9BXN5	Silent	SNP	ENST00000341298.3	37	c.31C>T	CCDS1095.1																																																																																				0.607	DPM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085519.1		NM_153741		32	43	0	0	0	0.002836	0	32	43		
PAPPA2	60676	broad.mit.edu	37	1	176525600	176525600	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr1:176525600G>A	ENST00000367662.3	+	2	1306	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K	PAPPA2_ENST00000367661.3_Missense_Mutation_p.E48K	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	48					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GTTGGAAGGAGAACGTTGTTG	0.572																																						uc001gkz.2		NaN																	0				ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(142-144)GAA>AAA		pappalysin 2 isoform 1							92.0	92.0	92.0					1																	176525600		1995	4175	6170	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176525600G>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.142G>A	1.37:g.176525600G>A	ENSP00000356634:p.Glu48Lys					PAPPA2_uc001gky.1_Missense_Mutation_p.E48K|PAPPA2_uc009www.2_RNA	p.E48K	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			2	1306	+			48					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.142G>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.455288	0.84209	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.41758	4.25;0.99	4.82	4.82	0.62117	.	0.335418	0.21274	U	0.077262	T	0.42921	0.1224	M	0.65975	2.015	0.37179	D	0.903422	P;P	0.40970	0.734;0.734	B;B	0.37731	0.135;0.257	T	0.58696	-0.7591	10	0.87932	D	0	-5.6585	13.391	0.60825	0.0:0.0:1.0:0.0	.	48;48	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	K	48	ENSP00000356634:E48K;ENSP00000356633:E48K	ENSP00000356633:E48K	E	+	1	0	PAPPA2	174792223	1.000000	0.71417	0.986000	0.45419	0.951000	0.60555	4.952000	0.63618	2.232000	0.73038	0.561000	0.74099	GAA		0.572	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1				7	152	0	0	0	0.00308	0	7	152		
BRINP3	339479	broad.mit.edu	37	1	190068168	190068168	+	Silent	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr1:190068168C>T	ENST00000367462.3	-	8	1512	c.1281G>A	c.(1279-1281)acG>acA	p.T427T	BRINP3_ENST00000534846.1_Silent_p.T325T	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	427					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											CATTCGGACACGTGCACGAGT	0.587																																						uc001gse.1		NaN																	0				lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(1279-1281)ACG>ACA		family with sequence similarity 5, member C							54.0	42.0	46.0					1																	190068168		2203	4300	6503	SO:0001819	synonymous_variant	339479					extracellular region		g.chr1:190068168C>T	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1281G>A	1.37:g.190068168C>T						FAM5C_uc010pot.1_Silent_p.T325T	p.T427T	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			8	1513	-	Prostate(682;0.198)		427					B3KVP1|B7Z260|O95726|Q2M330	Silent	SNP	ENST00000367462.3	37	c.1281G>A	CCDS1373.1																																																																																				0.587	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1		NM_199051		4	58	0	0	0	0.000602	0	4	58		
TTC13	79573	broad.mit.edu	37	1	231060618	231060618	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr1:231060618C>G	ENST00000366661.4	-	14	1697	c.1690G>C	c.(1690-1692)Gac>Cac	p.D564H	TTC13_ENST00000414259.1_Missense_Mutation_p.D511H|TTC13_ENST00000366662.4_Missense_Mutation_p.D511H	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	564										central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TCAAACATGTCTCTCCACTGC	0.423																																						uc001huf.3		NaN																	0				ovary(1)|skin(1)	2						c.(1690-1692)GAC>CAC		tetratricopeptide repeat domain 13 isoform a							242.0	196.0	211.0					1																	231060618		2203	4300	6503	SO:0001583	missense	79573						binding	g.chr1:231060618C>G		CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"""Tetratricopeptide (TTC) repeat domain containing"""	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.1690G>C	1.37:g.231060618C>G	ENSP00000355621:p.Asp564His					TTC13_uc009xfi.2_Missense_Mutation_p.D511H|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Missense_Mutation_p.D511H|TTC13_uc009xfk.1_Missense_Mutation_p.D454H	p.D564H	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN		COAD - Colon adenocarcinoma(196;0.243)	14	1721	-	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	564					B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Missense_Mutation	SNP	ENST00000366661.4	37	c.1690G>C	CCDS1588.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.038248	0.93630	.	.	ENSG00000143643	ENST00000366661;ENST00000366662;ENST00000414259	T;T;T	0.34667	1.35;1.35;1.35	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.62490	0.2432	M	0.70595	2.14	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.987;0.997;0.988;0.982	T	0.64407	-0.6415	10	0.87932	D	0	-19.1836	19.6869	0.95982	0.0:1.0:0.0:0.0	.	489;511;511;564	Q69YR0;E9PGV4;Q8NBP0-2;Q8NBP0	.;.;.;TTC13_HUMAN	H	564;511;511	ENSP00000355621:D564H;ENSP00000355622:D511H;ENSP00000416631:D511H	ENSP00000355621:D564H	D	-	1	0	TTC13	229127241	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.726000	0.93360	0.655000	0.94253	GAC		0.423	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092229.2		NM_024525		27	164	0	0	0	0.007291	0	27	164		
SIPA1L2	57568	broad.mit.edu	37	1	232649719	232649719	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr1:232649719G>C	ENST00000366630.1	-	2	1725	c.1367C>G	c.(1366-1368)tCc>tGc	p.S456C	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.S456C			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	456					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TTCCAAGACGGAGACACCTGC	0.498																																						uc001hvg.2		NaN																	0				ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6						c.(1366-1368)TCC>TGC		signal-induced proliferation-associated 1 like							148.0	144.0	145.0					1																	232649719		1976	4164	6140	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232649719G>C	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.1367C>G	1.37:g.232649719G>C	ENSP00000355589:p.Ser456Cys						p.S456C	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN			1	1525	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	456					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.1367C>G	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.827847	0.71143	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	D;D	0.83335	-1.71;-1.71	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.89420	0.6710	L	0.53729	1.69	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.90071	0.4163	10	0.87932	D	0	-13.916	18.9154	0.92503	0.0:0.0:1.0:0.0	.	456	Q9P2F8	SI1L2_HUMAN	C	456	ENSP00000355589:S456C;ENSP00000262861:S456C	ENSP00000262861:S456C	S	-	2	0	SIPA1L2	230716342	1.000000	0.71417	0.849000	0.33467	0.838000	0.47535	9.657000	0.98554	2.704000	0.92352	0.650000	0.86243	TCC		0.498	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1		XM_045839		26	210	0	0	0	0.005443	0	26	210		
FMN2	56776	broad.mit.edu	37	1	240370532	240370532	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr1:240370532T>C	ENST00000319653.9	+	5	2650	c.2420T>C	c.(2419-2421)aTc>aCc	p.I807T		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	807	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ACACAGAGCATCTCACAGCCT	0.527																																						uc010pyd.1		NaN																	0				ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(2419-2421)ATC>ACC		formin 2							71.0	65.0	67.0					1																	240370532		2203	4300	6503	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240370532T>C	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2420T>C	1.37:g.240370532T>C	ENSP00000318884:p.Ile807Thr					FMN2_uc010pye.1_Missense_Mutation_p.I811T	p.I807T	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	2645	+	Ovarian(103;0.127)	all_cancers(173;0.013)	807			Pro-rich.|FH1.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.2420T>C	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	T	4.550	0.102082	0.08731	.	.	ENSG00000155816	ENST00000319653	T	0.26518	1.73	3.43	-2.42	0.06542	Actin-binding FH2/DRF autoregulatory (1);	2.410060	0.03233	U	0.179281	T	0.12518	0.0304	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20940	-1.0260	9	.	.	.	.	6.8451	0.23984	0.0:0.4348:0.2606:0.3046	.	807	Q9NZ56	FMN2_HUMAN	T	807	ENSP00000318884:I807T	.	I	+	2	0	FMN2	238437155	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.070000	0.03440	-0.812000	0.04363	-0.297000	0.09499	ATC		0.527	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2		XM_371352		5	92	0	0	0	0.000602	0	5	92		
ZNF695	57116	broad.mit.edu	37	1	247151507	247151507	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr1:247151507C>A	ENST00000339986.7	-	4	457	c.310G>T	c.(310-312)Gtt>Ttt	p.V104F	ZNF695_ENST00000498046.2_5'UTR|ZNF695_ENST00000487338.2_Missense_Mutation_p.V104F	NM_020394.4	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein 695	104					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TGGAATGAAACTTGCAGGCCC	0.373																																						uc009xgu.2		NaN																	0					0						c.(310-312)GTT>TTT		zinc finger protein SBZF3							101.0	96.0	98.0					1																	247151507		1851	4104	5955	SO:0001583	missense	57116				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr1:247151507C>A		CCDS44344.1, CCDS55694.1	1q44	2013-01-08			ENSG00000197472	ENSG00000197472		"""Zinc fingers, C2H2-type"", ""-"""	30954	protein-coding gene	gene with protein product						12477932	Standard	NM_020394		Approved	SBZF3	uc009xgu.3	Q8IW36	OTTHUMG00000040707	ENST00000339986.7:c.310G>T	1.37:g.247151507C>A	ENSP00000341236:p.Val104Phe					ZNF695_uc001ica.2_RNA|ZNF695_uc001icb.1_RNA|ZNF695_uc009xgt.1_RNA|ZNF695_uc001ibx.2_Missense_Mutation_p.V104F|ZNF695_uc001iby.2_Intron|ZNF695_uc001icc.2_Missense_Mutation_p.V92F	p.V104F	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		4	455	-	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	104					Q5T0N9|Q5T0P1|Q5T0P3|Q7Z2W8|Q7Z648	Missense_Mutation	SNP	ENST00000339986.7	37	c.310G>T	CCDS44344.1	.	.	.	.	.	.	.	.	.	.	C	3.425	-0.117378	0.06838	.	.	ENSG00000197472	ENST00000487338;ENST00000391780;ENST00000339986	T;T	0.06687	5.79;3.27	0.459	-0.917	0.10485	.	.	.	.	.	T	0.03564	0.0102	N	0.08118	0	0.09310	N	1	B;B;B	0.31054	0.004;0.282;0.306	B;B;B	0.26693	0.002;0.071;0.072	T	0.35773	-0.9775	9	0.87932	D	0	.	3.5786	0.07943	0.0:0.4993:0.2557:0.245	.	104;92;104	Q8IW36;F2Z2N8;Q8IW36-1	ZN695_HUMAN;.;.	F	104	ENSP00000429736:V104F;ENSP00000341236:V104F	ENSP00000428213:V92F	V	-	1	0	ZNF695	245218130	0.000000	0.05858	0.004000	0.12327	0.362000	0.29581	-0.274000	0.08537	-1.805000	0.01239	-1.076000	0.02234	GTT		0.373	ZNF695-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097823.5		NM_020394		45	111	1	0	6.57855e-14	0.009718	7.33038e-14	45	111		
TUBAL3	79861	broad.mit.edu	37	10	5436157	5436157	+	Missense_Mutation	SNP	G	G	A	rs149499697	byFrequency	TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr10:5436157G>A	ENST00000380419.3	-	4	701	c.664C>T	c.(664-666)Cgt>Tgt	p.R222C	TUBAL3_ENST00000479328.1_Missense_Mutation_p.R182C	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	222					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						CCGAGTTTACGATGGCATATA	0.522													G|||	4	0.000798722	0.003	0.0	5008	,	,		21850	0.0		0.0	False		,,,				2504	0.0					uc001ihy.2		NaN																	0				skin(1)	1						c.(664-666)CGT>TGT		tubulin, alpha-like 3		G	CYS/ARG,CYS/ARG	7,4399	12.9+/-30.5	0,7,2196	152.0	127.0	135.0		544,664	3.2	0.0	10	dbSNP_134	135	0,8600		0,0,4300	yes	missense,missense	TUBAL3	NM_001171864.1,NM_024803.2	180,180	0,7,6496	AA,AG,GG		0.0,0.1589,0.0538	possibly-damaging,possibly-damaging	182/407,222/447	5436157	7,12999	2203	4300	6503	SO:0001583	missense	79861				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr10:5436157G>A	AK025318	CCDS7066.2, CCDS53491.1	10p15.1	2007-03-15			ENSG00000178462	ENSG00000178462		"""Tubulins"""	23534	protein-coding gene	gene with protein product							Standard	NM_024803		Approved	FLJ21665	uc001ihy.3	A6NHL2	OTTHUMG00000017595	ENST00000380419.3:c.664C>T	10.37:g.5436157G>A	ENSP00000369784:p.Arg222Cys					TUBAL3_uc001ihz.2_Missense_Mutation_p.R182C	p.R222C	NM_024803	NP_079079	A6NHL2	TBAL3_HUMAN			4	704	-			222					B4DKL2|Q4QQJ5|Q9H6Z0	Missense_Mutation	SNP	ENST00000380419.3	37	c.664C>T	CCDS7066.2	.	.	.	.	.	.	.	.	.	.	G	5.538	0.284135	0.10513	0.001589	0.0	ENSG00000178462	ENST00000380419;ENST00000479328	T;T	0.70282	-0.47;-0.47	4.08	3.16	0.36331	Tubulin/FtsZ, GTPase domain (4);	0.837220	0.10427	N	0.675939	T	0.76033	0.3931	M	0.87827	2.91	0.09310	N	1	D;D	0.57899	0.981;0.978	B;B	0.42959	0.377;0.403	T	0.68462	-0.5402	10	0.87932	D	0	.	13.1275	0.59364	0.0:0.163:0.837:0.0	.	182;222	A6NHL2-2;A6NHL2	.;TBAL3_HUMAN	C	222;182	ENSP00000369784:R222C;ENSP00000418799:R182C	ENSP00000369784:R222C	R	-	1	0	TUBAL3	5426157	0.001000	0.12720	0.002000	0.10522	0.000000	0.00434	0.991000	0.29654	1.006000	0.39211	0.650000	0.86243	CGT		0.522	TUBAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046548.2		NM_024803		6	126	0	0	0	0.001168	0	6	126		
STAM	8027	broad.mit.edu	37	10	17750829	17750829	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr10:17750829A>T	ENST00000377524.3	+	13	1479	c.1264A>T	c.(1264-1266)Atg>Ttg	p.M422L	STAM_ENST00000540523.1_Missense_Mutation_p.M311L	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	422					endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						GAACGCGCAGATGAGCCACCT	0.527																																						uc001ipj.1		NaN																	0				large_intestine(1)|ovary(1)	2						c.(1264-1266)ATG>TTG		signal transducing adaptor molecule 1							92.0	91.0	92.0					10																	17750829		2203	4300	6503	SO:0001583	missense	8027				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity	g.chr10:17750829A>T	U43899	CCDS7122.1	10p14-p13	2009-04-29			ENSG00000136738	ENSG00000136738			11357	protein-coding gene	gene with protein product	"""HSE1 homolog (S. cerevisiae)"""	601899				8780729	Standard	NM_003473		Approved	STAM1	uc001ipj.2	Q92783	OTTHUMG00000017749	ENST00000377524.3:c.1264A>T	10.37:g.17750829A>T	ENSP00000366746:p.Met422Leu					STAM_uc009xjw.1_Missense_Mutation_p.M80L	p.M422L	NM_003473	NP_003464	Q92783	STAM1_HUMAN			13	1480	+			422					B0YJ99|D3DRU5|Q8N6D9	Missense_Mutation	SNP	ENST00000377524.3	37	c.1264A>T	CCDS7122.1	.	.	.	.	.	.	.	.	.	.	A	8.061	0.768136	0.15983	.	.	ENSG00000136738	ENST00000377524;ENST00000540523	T;T	0.38401	1.44;1.14	5.82	3.47	0.39725	.	0.251173	0.46145	D	0.000306	T	0.27134	0.0665	L	0.41236	1.265	0.43250	D	0.995179	B;B	0.12013	0.005;0.0	B;B	0.09377	0.004;0.001	T	0.07139	-1.0788	10	0.08179	T	0.78	-9.6293	14.1087	0.65109	0.8498:0.1502:0.0:0.0	.	311;422	B4DZT2;Q92783	.;STAM1_HUMAN	L	422;311	ENSP00000366746:M422L;ENSP00000438073:M311L	ENSP00000366746:M422L	M	+	1	0	STAM	17790835	1.000000	0.71417	0.999000	0.59377	0.801000	0.45260	2.048000	0.41278	0.452000	0.26830	0.482000	0.46254	ATG		0.527	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047039.1		NM_003473		41	103	0	0	0	0.007835	0	41	103		
CUL2	8453	broad.mit.edu	37	10	35351949	35351949	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr10:35351949C>G	ENST00000374748.1	-	4	474	c.161G>C	c.(160-162)gGa>gCa	p.G54A	CUL2_ENST00000374749.3_Missense_Mutation_p.G54A|CUL2_ENST00000374751.3_Missense_Mutation_p.G54A|CUL2_ENST00000478044.1_5'Flank|CUL2_ENST00000374746.1_Missense_Mutation_p.G54A|CUL2_ENST00000537177.1_Missense_Mutation_p.G73A|CUL2_ENST00000602371.1_Missense_Mutation_p.E12Q|CUL2_ENST00000374742.1_Missense_Mutation_p.G54A			Q13617	CUL2_HUMAN	cullin 2	54					cell cycle arrest (GO:0007050)|cellular response to hypoxia (GO:0071456)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|VCB complex (GO:0030891)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						AAGTCTTTCTCCAAGGGGTTC	0.299																																						uc001ixv.2		NaN																	0				ovary(3)	3						c.(160-162)GGA>GCA		cullin 2							74.0	75.0	75.0					10																	35351949		2203	4300	6503	SO:0001583	missense	8453				cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr10:35351949C>G	U83410	CCDS7179.1, CCDS73086.1	10p11.2	2011-05-24			ENSG00000108094	ENSG00000108094			2552	protein-coding gene	gene with protein product		603135				8681378	Standard	NM_003591		Approved		uc021ppa.1	Q13617	OTTHUMG00000017950	ENST00000374748.1:c.161G>C	10.37:g.35351949C>G	ENSP00000363880:p.Gly54Ala					CUL2_uc009xma.2_5'UTR|CUL2_uc010qer.1_Missense_Mutation_p.G73A|CUL2_uc001ixw.2_Missense_Mutation_p.G54A|CUL2_uc010qes.1_Missense_Mutation_p.G54A	p.G54A	NM_003591	NP_003582	Q13617	CUL2_HUMAN			3	371	-			54					B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Missense_Mutation	SNP	ENST00000374748.1	37	c.161G>C	CCDS7179.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.546|9.546	1.114658|1.114658	0.20795|0.20795	.|.	.|.	ENSG00000108094|ENSG00000108094	ENST00000374754|ENST00000374751;ENST00000374748;ENST00000374746;ENST00000374749;ENST00000374742;ENST00000537177;ENST00000421317	.|T;T;T;T;T;T;T	.|0.77098	.|-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07	5.64|5.64	5.64|5.64	0.86602|0.86602	.|Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	.|0.048779	.|0.85682	.|D	.|0.000000	T|T	0.64227|0.64227	0.2579|0.2579	N|N	0.12746|0.12746	0.255|0.255	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.19073	.|0.033;0.007;0.008	.|B;B;B	.|0.20577	.|0.03;0.005;0.008	T|T	0.58891|0.58891	-0.7556|-0.7556	6|10	0.22706|0.15499	T|T	0.39|0.54	-21.6812|-21.6812	19.6932|19.6932	0.96010|0.96010	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|54;73;54	.|Q5T2B5;G3V1S2;Q13617	.|.;.;CUL2_HUMAN	Q|A	12|54;54;54;54;54;73;54	.|ENSP00000363883:G54A;ENSP00000363880:G54A;ENSP00000363878:G54A;ENSP00000363881:G54A;ENSP00000363874:G54A;ENSP00000444856:G73A;ENSP00000414095:G54A	ENSP00000363886:E12Q|ENSP00000363874:G54A	E|G	-|-	1|2	0|0	CUL2|CUL2	35391955|35391955	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.731000|7.731000	0.84895|0.84895	2.664000|2.664000	0.90586|0.90586	0.655000|0.655000	0.94253|0.94253	GAG|GGA		0.299	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047538.1		NM_003591		14	123	0	0	0	0.003163	0	14	123		
BMS1	9790	broad.mit.edu	37	10	43281092	43281092	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr10:43281092G>C	ENST00000374518.5	+	3	402	c.339G>C	c.(337-339)gaG>gaC	p.E113D		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	113	Bms1-type G.				ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AGTTGACTGAGATCAGAGGCC	0.507																																						uc001jaj.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(337-339)GAG>GAC		BMS1-like, ribosome assembly protein							132.0	135.0	134.0					10																	43281092		2203	4300	6503	SO:0001583	missense	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43281092G>C	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.339G>C	10.37:g.43281092G>C	ENSP00000363642:p.Glu113Asp						p.E113D	NM_014753	NP_055568	Q14692	BMS1_HUMAN			3	697	+			113					Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	c.339G>C	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	g	8.708	0.911322	0.17833	.	.	ENSG00000165733	ENST00000374518	T	0.08807	3.05	4.73	1.39	0.22231	.	0.149124	0.64402	D	0.000014	T	0.03053	0.0090	N	0.05199	-0.095	0.31965	N	0.607891	B	0.22480	0.07	B	0.27796	0.083	T	0.35400	-0.9790	10	0.10902	T	0.67	.	4.1523	0.10244	0.2974:0.198:0.5046:0.0	.	113	Q14692	BMS1_HUMAN	D	113	ENSP00000363642:E113D	ENSP00000363642:E113D	E	+	3	2	BMS1	42601098	0.999000	0.42202	1.000000	0.80357	0.775000	0.43874	0.638000	0.24674	1.013000	0.39391	0.508000	0.49915	GAG		0.507	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2		NM_014753		26	259	0	0	0	0.00632	0	26	259		
PRF1	5551	broad.mit.edu	37	10	72358024	72358024	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr10:72358024G>C	ENST00000441259.1	-	3	1613	c.1453C>G	c.(1453-1455)Cag>Gag	p.Q485E	PRF1_ENST00000373209.2_Missense_Mutation_p.Q485E	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	485	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						CCAGAGTCCTGATCCCAGACC	0.582			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis																													uc009xqg.2		NaN	yes	Rec			10	10q22	5551	M	perforin 1 (pore forming protein)		Type 2 familial hemophagocytic lymphohistiocytosis	L		various leukaemia|lymphoma			0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(1453-1455)CAG>GAG		perforin 1 precursor							112.0	119.0	117.0					10																	72358024		2203	4300	6503	SO:0001583	missense	5551	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity	g.chr10:72358024G>C	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"""Perforin"", ""perforin 1 (preforming protein)"""	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.1453C>G	10.37:g.72358024G>C	ENSP00000398568:p.Gln485Glu					PRF1_uc001jrf.3_Missense_Mutation_p.Q485E	p.Q485E	NM_001083116	NP_001076585	P14222	PERF_HUMAN			3	1614	-			485			C2.		B2R6X4|Q59F57|Q86WX7	Missense_Mutation	SNP	ENST00000441259.1	37	c.1453C>G	CCDS7305.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.412754	0.00191	.	.	ENSG00000180644	ENST00000373209;ENST00000441259;ENST00000318971	T;T	0.67171	-0.25;-0.25	5.97	-0.354	0.12591	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	1.632420	0.02827	N	0.126317	T	0.40522	0.1120	N	0.03983	-0.305	0.09310	N	1	B	0.14012	0.009	B	0.15484	0.013	T	0.43475	-0.9389	10	0.02654	T	1	0.0374	9.7439	0.40435	0.0:0.4031:0.4647:0.1322	.	485	P14222	PERF_HUMAN	E	485	ENSP00000362305:Q485E;ENSP00000398568:Q485E	ENSP00000316746:Q485E	Q	-	1	0	PRF1	72028030	0.000000	0.05858	0.009000	0.14445	0.050000	0.14768	-0.020000	0.12525	-0.325000	0.08577	-0.950000	0.02660	CAG		0.582	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048517.2		NM_005041		15	121	0	0	0	0.00245	0	15	121		
PTEN	5728	broad.mit.edu	37	10	89717615	89717615	+	Nonsense_Mutation	SNP	C	C	T	rs121909227		TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr10:89717615C>T	ENST00000371953.3	+	7	1997	c.640C>T	c.(640-642)Cag>Tag	p.Q214*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	214	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.Q214*(10)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.Q214fs*1(1)|p.?(1)|p.Q214fs*22(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGCAGATCCTCAGTTTGTGGT	0.388		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		60	Whole gene deletion(37)|Substitution - Nonsense(10)|Deletion - Frameshift(10)|Deletion - In frame(1)|Complex - frameshift(1)|Unknown(1)	p.Q214*(8)|p.R55fs*1(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.G165_K342del(1)|p.Q214fs*22(1)	prostate(16)|central_nervous_system(11)|endometrium(8)|skin(7)|lung(5)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|cervix(1)|soft_tissue(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	GRCh37	CM981672	PTEN	M	rs121909227	c.(640-642)CAG>TAG		phosphatase and tensin homolog							112.0	99.0	103.0					10																	89717615		2203	4300	6503	SO:0001587	stop_gained	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89717615C>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.640C>T	10.37:g.89717615C>T	ENSP00000361021:p.Gln214*	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.Q214*	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	8	1671	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	214			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	c.640C>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	49	15.574246	0.99838	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.67	5.67	0.87782	.	0.164422	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.2072	19.7712	0.96366	0.0:1.0:0.0:0.0	.	.	.	.	X	214	.	.	Q	+	1	0	PTEN	89707595	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.452000	0.80683	2.677000	0.91161	0.585000	0.79938	CAG		0.388	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1		NM_000314		72	55	0	0	0	0.00361	0	72	55		
ADRA2A	150	broad.mit.edu	37	10	112838906	112838906	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr10:112838906G>A	ENST00000280155.2	+	1	2117	c.1152G>A	c.(1150-1152)gaG>gaA	p.E384E		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	369					actin cytoskeleton organization (GO:0030036)|activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|acute inflammatory response (GO:0002526)|adenylate cyclase-inhibiting adrenergic receptor signaling pathway (GO:0071881)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|DNA replication (GO:0006260)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|fear response (GO:0042596)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intestinal absorption (GO:0050892)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of adrenergic receptor signaling pathway (GO:0071878)|negative regulation of calcium ion transmembrane transporter activity (GO:1901020)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of insulin secretion (GO:0046676)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|phospholipase C-activating adrenergic receptor signaling pathway (GO:0071882)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of vasodilation (GO:0045909)|positive regulation of wound healing (GO:0090303)|Ras protein signal transduction (GO:0007265)|regulation of insulin secretion (GO:0050796)|regulation of vasoconstriction (GO:0019229)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|thermoception (GO:0050955)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	alpha-1B adrenergic receptor binding (GO:0031692)|alpha-2C adrenergic receptor binding (GO:0031696)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|heterotrimeric G-protein binding (GO:0032795)|norepinephrine binding (GO:0051380)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|thioesterase binding (GO:0031996)			breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Dexmedetomidine(DB00633)|Dihydroergotamine(DB00320)|Dipivefrin(DB00449)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupirtine(DB06623)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Lofexidine(DB04948)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Naphazoline(DB06711)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pramipexole(DB00413)|Prazosin(DB00457)|Propericiazine(DB01608)|Pseudoephedrine(DB00852)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	AGAACCGCGAGAAGCGCTTCA	0.721																																					Esophageal Squamous(173;605 2658 7278 49362)	uc001kzo.2		NaN																	0					0						c.(1150-1152)GAG>GAA		alpha-2A-adrenergic receptor	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)						100.0	81.0	87.0					10																	112838906		2203	4300	6503	SO:0001819	synonymous_variant	150				actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding	g.chr10:112838906G>A	AF284095	CCDS7569.2	10q25.2	2012-08-08	2012-05-09		ENSG00000150594	ENSG00000150594		"""GPCR / Class A : Adrenoceptors : alpha"""	281	protein-coding gene	gene with protein product	"""alpha-2AAR subtype C10"", "" alpha-2A-adrenergic receptor"""	104210	"""adrenergic, alpha-2A-, receptor"""	ADRA2, ADRA2R			Standard	NM_000681		Approved	ADRAR	uc001kzo.3	P08913	OTTHUMG00000019050	ENST00000280155.2:c.1152G>A	10.37:g.112838906G>A							p.E384E	NM_000681	NP_000672	P08913	ADA2A_HUMAN		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	1	2117	+		Breast(234;0.0735)|Lung NSC(174;0.238)	369			Cytoplasmic (By similarity).		B0LPF6|Q2I8G2|Q2XN99|Q86TH8|Q9BZK1	Silent	SNP	ENST00000280155.2	37	c.1152G>A	CCDS7569.2																																																																																				0.721	ADRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050372.2		NM_000681		11	66	0	0	0	0.010729	0	11	66		
IGSF22	283284	broad.mit.edu	37	11	18737135	18737135	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr11:18737135T>A	ENST00000513874.1	-	11	1514	c.1375A>T	c.(1375-1377)Atg>Ttg	p.M459L	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	459	Ig-like 3.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						GTGCCATGCATCAGCAGCTGC	0.537																																						uc009yht.2		NaN																	0				ovary(4)|large_intestine(2)|kidney(1)	7						c.(1375-1377)ATG>TTG		immunoglobulin superfamily, member 22							133.0	129.0	130.0					11																	18737135		2199	4288	6487	SO:0001583	missense	283284							g.chr11:18737135T>A	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.1375A>T	11.37:g.18737135T>A	ENSP00000421191:p.Met459Leu					IGSF22_uc001mpa.2_RNA	p.M459L	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN			11	1565	-			459			Ig-like 3.		A6NNA0|D6RGV7	Missense_Mutation	SNP	ENST00000513874.1	37	c.1375A>T	CCDS41625.2	.	.	.	.	.	.	.	.	.	.	T	0.021	-1.432324	0.01108	.	.	ENSG00000179057	ENST00000513874	T	0.66099	-0.19	4.91	-2.31	0.06765	.	0.899619	0.09111	N	0.847057	T	0.22166	0.0534	N	0.00729	-1.24	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.13818	-1.0495	10	0.28530	T	0.3	.	1.0021	0.01479	0.2617:0.3871:0.1211:0.2302	.	459	D6RGV7	.	L	459	ENSP00000421191:M459L	ENSP00000322422:M459L	M	-	1	0	IGSF22	18693711	0.001000	0.12720	0.017000	0.16124	0.144000	0.21451	-0.048000	0.11944	-0.462000	0.06984	-0.475000	0.04921	ATG		0.537	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2		NM_173588		12	78	0	0	0	0.010729	0	12	78		
MPPED2	744	broad.mit.edu	37	11	30439147	30439147	+	Silent	SNP	T	T	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr11:30439147T>C	ENST00000358117.5	-	4	692	c.570A>G	c.(568-570)ctA>ctG	p.L190L	MPPED2_ENST00000448418.2_Silent_p.L190L|MPPED2_ENST00000524667.1_5'UTR	NM_001584.2	NP_001575.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	190					nervous system development (GO:0007399)		hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						GACCTCTGGGTAGGTTAAAGC	0.517																																						uc001msr.2		NaN																	0				skin(1)	1						c.(568-570)CTA>CTG		metallophosphoesterase domain containing 2							98.0	87.0	91.0					11																	30439147		2202	4299	6501	SO:0001819	synonymous_variant	744				nervous system development		hydrolase activity|metal ion binding	g.chr11:30439147T>C	U57911	CCDS7870.1, CCDS44560.1	11p13	2008-07-18	2005-10-10	2005-10-10	ENSG00000066382	ENSG00000066382			1180	protein-coding gene	gene with protein product		600911	"""chromosome 11 open reading frame 8"""	C11orf8		8666403, 9266672	Standard	NM_001584		Approved	239FB, D11S302E, Hs.46638, FAM1B, dJ873F21.1, dJ1024C24.1	uc001msr.3	Q15777	OTTHUMG00000166159	ENST00000358117.5:c.570A>G	11.37:g.30439147T>C						MPPED2_uc001msq.3_Silent_p.L190L|MPPED2_uc009yji.2_Silent_p.L64L	p.L190L	NM_001584	NP_001575	Q15777	MPPD2_HUMAN			4	690	-			190					D3DQZ5|E9PB10|Q59GE6	Silent	SNP	ENST00000358117.5	37	c.570A>G	CCDS7870.1																																																																																				0.517	MPPED2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388155.2		NM_001584		3	37	0	0	0	0.004672	0	3	37		
OR5L2	26338	broad.mit.edu	37	11	55595183	55595183	+	Silent	SNP	T	T	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr11:55595183T>C	ENST00000378397.1	+	1	489	c.489T>C	c.(487-489)gcT>gcC	p.A163A		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	163						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CGTCCTTAGCTCTTAGGATCC	0.473										HNSCC(27;0.073)																												uc001nhy.1		NaN																	0				ovary(1)	1						c.(487-489)GCT>GCC		olfactory receptor, family 5, subfamily L,							215.0	190.0	199.0					11																	55595183		2200	4296	6496	SO:0001819	synonymous_variant	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55595183T>C	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.489T>C	11.37:g.55595183T>C		HNSCC(27;0.073)					p.A163A	NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN			1	489	+		all_epithelial(135;0.208)	163			Extracellular (Potential).		Q6IF66|Q96RB2	Silent	SNP	ENST00000378397.1	37	c.489T>C	CCDS31511.1																																																																																				0.473	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1		NM_001004739		23	475	0	0	0	0.002299	0	23	475		
INTS5	80789	broad.mit.edu	37	11	62415419	62415419	+	Silent	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr11:62415419C>T	ENST00000330574.2	-	2	2185	c.2133G>A	c.(2131-2133)ggG>ggA	p.G711G	GANAB_ENST00000346178.4_5'Flank|GANAB_ENST00000534779.1_5'Flank|GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000540933.1_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	711					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						TCTCATTGTCCCCATCTACTT	0.557																																						uc001nud.2		NaN																	0				ovary(2)	2						c.(2131-2133)GGG>GGA		integrator complex subunit 5							91.0	93.0	92.0					11																	62415419		2202	4299	6501	SO:0001819	synonymous_variant	80789				snRNA processing	integral to membrane|integrator complex	protein binding	g.chr11:62415419C>T	AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"""KIAA1698"""	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.2133G>A	11.37:g.62415419C>T						GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank	p.G711G	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN			2	2186	-			711					Q8N6W5|Q9C0G5	Silent	SNP	ENST00000330574.2	37	c.2133G>A	CCDS8027.1																																																																																				0.557	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1		NM_030628		7	80	0	0	0	0.001984	0	7	80		
NUDT22	84304	broad.mit.edu	37	11	63996776	63996776	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr11:63996776G>A	ENST00000279206.3	+	4	793	c.637G>A	c.(637-639)Gag>Aag	p.E213K	DNAJC4_ENST00000321685.3_5'Flank|NUDT22_ENST00000441250.2_Missense_Mutation_p.E180K|DNAJC4_ENST00000355040.4_5'Flank|RP11-783K16.14_ENST00000539963.1_RNA|RP11-783K16.14_ENST00000534988.1_RNA|DNAJC4_ENST00000321460.5_5'Flank	NM_001128612.2|NM_032344.2	NP_001122084.1|NP_115720	Q9BRQ3	NUD22_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 22	213	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.						hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8						CGCCCGAAATGAGACCAGTGC	0.632																																						uc001nyp.3		NaN																	0					0						c.(637-639)GAG>AAG		nudix (nucleoside diphosphate linked moiety							44.0	42.0	43.0					11																	63996776		2199	4297	6496	SO:0001583	missense	84304						hydrolase activity	g.chr11:63996776G>A	BC006129	CCDS8061.1, CCDS44640.1	11q13.1	2008-02-05			ENSG00000149761	ENSG00000149761		"""Nudix motif containing"""	28189	protein-coding gene	gene with protein product						12477932	Standard	NM_032344		Approved	MGC13045	uc009ype.4	Q9BRQ3	OTTHUMG00000167791	ENST00000279206.3:c.637G>A	11.37:g.63996776G>A	ENSP00000279206:p.Glu213Lys					NUDT22_uc009ype.2_Missense_Mutation_p.E213K|NUDT22_uc001nyq.3_Missense_Mutation_p.E180K|NUDT22_uc010rng.1_RNA|uc001nyr.1_3'UTR|DNAJC4_uc001nys.2_5'Flank|DNAJC4_uc001nyt.2_5'Flank|DNAJC4_uc001nyu.2_5'Flank	p.E213K	NM_032344	NP_115720	Q9BRQ3	NUD22_HUMAN			4	817	+			213			Nudix hydrolase.		C9JY06|Q71RD5	Missense_Mutation	SNP	ENST00000279206.3	37	c.637G>A	CCDS8061.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.281274	0.40394	.	.	ENSG00000149761	ENST00000279206;ENST00000441250;ENST00000428347	T;T;T	0.31769	2.25;2.22;1.48	4.13	4.13	0.48395	NUDIX hydrolase domain (1);	0.124644	0.53938	D	0.000056	T	0.25494	0.0620	L	0.55481	1.735	0.37541	D	0.91829	P;P	0.43633	0.774;0.813	B;B	0.39876	0.229;0.312	T	0.09487	-1.0672	10	0.09084	T	0.74	0.313	11.7067	0.51601	0.0:0.1795:0.8205:0.0	.	180;213	C9JY06;Q9BRQ3	.;NUD22_HUMAN	K	213;180;244	ENSP00000279206:E213K;ENSP00000407970:E180K;ENSP00000401085:E244K	ENSP00000279206:E213K	E	+	1	0	NUDT22	63753352	0.993000	0.37304	0.961000	0.40146	0.752000	0.42762	2.264000	0.43302	2.298000	0.77334	0.462000	0.41574	GAG		0.632	NUDT22-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396304.2		NM_032344		3	11	0	0	0	0.004672	0	3	11		
SPDYC	387778	broad.mit.edu	37	11	64939959	64939959	+	Silent	SNP	T	T	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr11:64939959T>C	ENST00000377185.2	+	5	481	c.399T>C	c.(397-399)ttT>ttC	p.F133F	AP003068.18_ENST00000534819.1_RNA	NM_001008778.1	NP_001008778.1			speedy/RINGO cell cycle regulator family member C											breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						GTGAGATTTTTCCATGGGCCC	0.557																																						uc010rnz.1		NaN																	0					0						c.(397-399)TTT>TTC		speedy C							102.0	105.0	104.0					11																	64939959		2201	4297	6498	SO:0001819	synonymous_variant	387778				cell cycle	nucleus	protein kinase binding	g.chr11:64939959T>C	AY820305	CCDS31606.1	11q13.1	2013-05-08	2013-05-08		ENSG00000204710	ENSG00000204710		"""Speedy homologs"""	32681	protein-coding gene	gene with protein product		614030	"""speedy homolog C (Xenopus laevis)"""			15611625	Standard	NM_001008778		Approved	Ringo2	uc010rnz.2	Q5MJ68	OTTHUMG00000165611	ENST00000377185.2:c.399T>C	11.37:g.64939959T>C							p.F133F	NM_001008778	NP_001008778	Q5MJ68	SPDYC_HUMAN			5	399	+			133			Speedy/Ringo box; Required for CDK- binding (By similarity).			Silent	SNP	ENST00000377185.2	37	c.399T>C	CCDS31606.1																																																																																				0.557	SPDYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385299.1		NM_001008778		13	143	0	0	0	0.00245	0	13	143		
LTBP3	4054	broad.mit.edu	37	11	65315511	65315511	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr11:65315511C>A	ENST00000301873.5	-	12	1994	c.1726G>T	c.(1726-1728)Gat>Tat	p.D576Y	LTBP3_ENST00000536982.1_Missense_Mutation_p.D202Y|LTBP3_ENST00000322147.4_Missense_Mutation_p.D576Y|LTBP3_ENST00000529189.1_5'Flank|LTBP3_ENST00000532932.1_Missense_Mutation_p.D6Y	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	576	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						CGGCACTCATCAGTCTCTGCG	0.637																																						uc001oej.2		NaN																	0				central_nervous_system(2)|lung(1)	3						c.(1726-1728)GAT>TAT		latent transforming growth factor beta binding							61.0	58.0	59.0					11																	65315511		2201	4297	6498	SO:0001583	missense	4054					extracellular region	calcium ion binding|growth factor binding	g.chr11:65315511C>A	AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"""Latent transforming growth factor, beta binding proteins"""	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.1726G>T	11.37:g.65315511C>A	ENSP00000301873:p.Asp576Tyr					LTBP3_uc001oeg.2_5'Flank|LTBP3_uc001oeh.2_Missense_Mutation_p.D6Y|LTBP3_uc010roi.1_Missense_Mutation_p.D459Y|LTBP3_uc001oei.2_Missense_Mutation_p.D576Y|LTBP3_uc010roj.1_Missense_Mutation_p.D277Y|LTBP3_uc010rok.1_Missense_Mutation_p.D487Y	p.D576Y	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN			12	1995	-			576			EGF-like 3.		O15107|Q96HB9|Q9H7K2|Q9UFN4	Missense_Mutation	SNP	ENST00000301873.5	37	c.1726G>T	CCDS44647.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.26|16.26	3.071715|3.071715	0.55646|0.55646	.|.	.|.	ENSG00000168056|ENSG00000168056	ENST00000322147;ENST00000301873;ENST00000532932;ENST00000536982;ENST00000530866|ENST00000526927	D;D;D;D;D|.	0.87412|.	-2.25;-2.25;-2.25;-2.25;-2.25|.	4.7|4.7	3.79|3.79	0.43588|0.43588	Epidermal growth factor-like, type 3 (1);|.	0.224065|.	0.43579|.	D|.	0.000554|.	D|.	0.87030|.	0.6076|.	H|H	0.98218|0.98218	4.175|4.175	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	0.981;0.999;1.0;0.981;0.999;1.0|.	P;D;D;P;D;D|.	0.80764|.	0.819;0.945;0.957;0.819;0.962;0.994|.	D|.	0.88944|.	0.3382|.	10|.	0.87932|.	D|.	0|.	.|.	10.2526|10.2526	0.43377|0.43377	0.0:0.9007:0.0:0.0993|0.0:0.9007:0.0:0.0993	.|.	487;202;459;576;576;6|.	E9PKW1;F5GWC4;B9EG76;Q9NS15;Q9NS15-2;E9PJR2|.	.;.;.;LTBP3_HUMAN;.;.|.	Y|L	576;576;6;202;487|226	ENSP00000326647:D576Y;ENSP00000301873:D576Y;ENSP00000435530:D6Y;ENSP00000441912:D202Y;ENSP00000435276:D487Y|.	ENSP00000301873:D576Y|.	D|X	-|-	1|2	0|2	LTBP3|LTBP3	65072087|65072087	0.997000|0.997000	0.39634|0.39634	0.415000|0.415000	0.26534|0.26534	0.393000|0.393000	0.30537|0.30537	4.035000|4.035000	0.57297|0.57297	0.973000|0.973000	0.38340|0.38340	0.205000|0.205000	0.17691|0.17691	GAT|TGA		0.637	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390538.1		NM_021070		5	80	1	0	3.59834e-05	0.001168	3.73515e-05	5	80		
LTBP3	4054	broad.mit.edu	37	11	65315517	65315517	+	Splice_Site	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr11:65315517C>T	ENST00000301873.5	-	12	1989		c.e12-1		LTBP3_ENST00000536982.1_Splice_Site|LTBP3_ENST00000322147.4_Splice_Site|LTBP3_ENST00000529189.1_5'Flank|LTBP3_ENST00000532932.1_Missense_Mutation_p.E4K	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3						bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						TCATCAGTCTCTGCGGGCATG	0.637																																						uc001oej.2		NaN																	0				central_nervous_system(2)|lung(1)	3						c.e12-1		latent transforming growth factor beta binding							57.0	55.0	56.0					11																	65315517		2201	4296	6497	SO:0001630	splice_region_variant	4054					extracellular region	calcium ion binding|growth factor binding	g.chr11:65315517C>T	AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"""Latent transforming growth factor, beta binding proteins"""	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.1721-1G>A	11.37:g.65315517C>T						LTBP3_uc001oeg.2_5'Flank|LTBP3_uc001oeh.2_Missense_Mutation_p.E4K|LTBP3_uc010roi.1_Splice_Site_p.E457_splice|LTBP3_uc001oei.2_Splice_Site_p.E574_splice|LTBP3_uc010roj.1_Splice_Site_p.E275_splice|LTBP3_uc010rok.1_Splice_Site_p.E485_splice	p.E574_splice	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN			12	1990	-								O15107|Q96HB9|Q9H7K2|Q9UFN4	Splice_Site	SNP	ENST00000301873.5	37	c.1721_splice	CCDS44647.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.19|11.19	1.564315|1.564315	0.27915|0.27915	.|.	.|.	ENSG00000168056|ENSG00000168056	ENST00000322147;ENST00000301873;ENST00000526927;ENST00000536982;ENST00000530866|ENST00000532932	.|D	.|0.81499	.|-1.5	4.7|4.7	3.78|3.78	0.43462|0.43462	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69788	.|0.3150	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|B	.|0.22851	.|0.076	.|B	.|0.22753	.|0.041	.|T	.|0.61845	.|-0.6979	.|7	.|.	.|.	.|.	.|.	11.9206|11.9206	0.52789|0.52789	0.176:0.824:0.0:0.0|0.176:0.824:0.0:0.0	.|.	.|4	.|E9PJR2	.|.	.|K	-1|4	.|ENSP00000435530:E4K	.|.	.|E	-|-	.|1	.|0	LTBP3|LTBP3	65072093|65072093	1.000000|1.000000	0.71417|0.71417	0.963000|0.963000	0.40424|0.40424	0.303000|0.303000	0.27691|0.27691	2.773000|2.773000	0.47686|0.47686	0.959000|0.959000	0.37980|0.37980	0.205000|0.205000	0.17691|0.17691	.|GAG		0.637	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390538.1		NM_021070	Intron	5	80	0	0	0	0.001168	0	5	80		
SHANK2	22941	broad.mit.edu	37	11	70319061	70319061	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr11:70319061C>G	ENST00000423696.2	-	16	4362	c.4326G>C	c.(4324-4326)caG>caC	p.Q1442H	SHANK2_ENST00000449833.2_Missense_Mutation_p.Q1226H|SHANK2_ENST00000338508.4_Missense_Mutation_p.Q1822H|SHANK2_ENST00000409161.1_Missense_Mutation_p.Q1225H			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1442	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GGTCCTCCTTCTGCAGGTTTG	0.493																																						uc001oqc.2		NaN																	0				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(5461-5463)CAG>CAC		SH3 and multiple ankyrin repeat domains 2							213.0	208.0	209.0					11																	70319061		2200	4294	6494	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70319061C>G	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.4326G>C	11.37:g.70319061C>G	ENSP00000394536:p.Gln1442His					SHANK2_uc010rqn.1_Missense_Mutation_p.Q1233H|SHANK2_uc001opz.2_Missense_Mutation_p.Q1226H|uc009ysn.1_5'UTR|SHANK2_uc001opy.2_Missense_Mutation_p.Q157H	p.Q1821H	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		22	5541	-			1442			SAM.		C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.5463G>C		.	.	.	.	.	.	.	.	.	.	C	18.09	3.545510	0.65198	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76	6.03	5.11	0.69529	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.58061	0.2096	L	0.45285	1.41	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.997;0.999	T	0.57219	-0.7849	10	0.59425	D	0.04	.	10.1922	0.43032	0.0:0.8063:0.0:0.1937	.	1442;1821;1226	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	H	1226;1225;1100;1822;1442;1460;1445	ENSP00000399423:Q1226H;ENSP00000386491:Q1225H;ENSP00000402944:Q1100H;ENSP00000345193:Q1822H;ENSP00000394536:Q1442H;ENSP00000294018:Q1445H	ENSP00000294018:Q1445H	Q	-	3	2	SHANK2	69996709	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.554000	0.36266	2.861000	0.98227	0.655000	0.94253	CAG		0.493	SHANK2-203	KNOWN	basic	protein_coding	protein_coding			NM_012309		21	448	0	0	0	0.00278	0	21	448		
RNF169	254225	broad.mit.edu	37	11	74500681	74500681	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr11:74500681C>G	ENST00000299563.4	+	2	526	c.513C>G	c.(511-513)ttC>ttG	p.F171L		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	171					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of double-strand break repair (GO:2000780)|protein ubiquitination (GO:0016567)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|site of double-strand break (GO:0035861)	K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						ACTTTATATTCAGAGCACCAA	0.343																																						uc001ovl.3		NaN																	0				ovary(1)	1						c.(511-513)TTC>TTG		ring finger protein 169							102.0	94.0	96.0					11																	74500681		1798	4066	5864	SO:0001583	missense	254225						zinc ion binding	g.chr11:74500681C>G	AB082522	CCDS41691.1	11q13.4	2008-02-05			ENSG00000166439	ENSG00000166439		"""RING-type (C3HC4) zinc fingers"""	26961	protein-coding gene	gene with protein product						12056414	Standard	NM_001098638		Approved	KIAA1991	uc001ovl.4	Q8NCN4	OTTHUMG00000165516	ENST00000299563.4:c.513C>G	11.37:g.74500681C>G	ENSP00000299563:p.Phe171Leu						p.F171L	NM_001098638	NP_001092108	Q8NCN4	RN169_HUMAN			2	526	+			171					Q6N015	Missense_Mutation	SNP	ENST00000299563.4	37	c.513C>G	CCDS41691.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.176533	0.78564	.	.	ENSG00000166439	ENST00000299563	T	0.45276	0.9	5.03	4.12	0.48240	.	0.287447	0.28772	N	0.014195	T	0.54935	0.1889	M	0.65975	2.015	0.45161	D	0.998179	D	0.63880	0.993	D	0.68192	0.956	T	0.53201	-0.8472	10	0.13470	T	0.59	-30.8482	9.9316	0.41525	0.0:0.905:0.0:0.095	.	171	Q8NCN4	RN169_HUMAN	L	171	ENSP00000299563:F171L	ENSP00000299563:F171L	F	+	3	2	RNF169	74178329	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.049000	0.41288	1.235000	0.43724	0.655000	0.94253	TTC		0.343	RNF169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384741.1		XM_495886		14	228	0	0	0	0.004007	0	14	228		
MTMR2	8898	broad.mit.edu	37	11	95568599	95568599	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr11:95568599C>G	ENST00000346299.5	-	15	2127	c.1787G>C	c.(1786-1788)aGa>aCa	p.R596T	MTMR2_ENST00000393223.3_Missense_Mutation_p.R524T|MTMR2_ENST00000352297.7_Missense_Mutation_p.R524T|MTMR2_ENST00000409459.1_Missense_Mutation_p.R524T	NM_016156.5	NP_057240.3	Q13614	MTMR2_HUMAN	myotubularin related protein 2	596					cell death (GO:0008219)|dendritic spine maintenance (GO:0097062)|inositol phosphate dephosphorylation (GO:0046855)|myelin assembly (GO:0032288)|negative regulation of endocytosis (GO:0045806)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of myelination (GO:0031642)|negative regulation of receptor catabolic process (GO:2000645)|negative regulation of receptor internalization (GO:0002091)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of early endosome to late endosome transport (GO:2000643)|protein dephosphorylation (GO:0006470)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endosome (GO:0005768)|neuronal postsynaptic density (GO:0097481)|nucleus (GO:0005634)|synaptic membrane (GO:0097060)|synaptic vesicle (GO:0008021)|vacuolar membrane (GO:0005774)	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTCTTTGTATCTGTTGTGAAT	0.408																																						uc001pfu.2		NaN																	0				pancreas(1)	1						c.(1786-1788)AGA>ACA		myotubularin-related protein 2 isoform 1							111.0	107.0	109.0					11																	95568599		2201	4298	6499	SO:0001583	missense	8898					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:95568599C>G	U58033	CCDS8305.1, CCDS8306.1	11q22	2014-09-17			ENSG00000087053	ENSG00000087053		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7450	protein-coding gene	gene with protein product		603557		CMT4B		8640223, 9736772	Standard	NM_016156		Approved	KIAA1073	uc001pfu.3	Q13614	OTTHUMG00000153837	ENST00000346299.5:c.1787G>C	11.37:g.95568599C>G	ENSP00000345752:p.Arg596Thr					MTMR2_uc001pfv.2_Missense_Mutation_p.R524T|MTMR2_uc001pfs.2_Missense_Mutation_p.R524T|MTMR2_uc001pft.2_Missense_Mutation_p.R524T	p.R596T	NM_016156	NP_057240	Q13614	MTMR2_HUMAN			15	2040	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	596					A6NN98|Q9UPS9	Missense_Mutation	SNP	ENST00000346299.5	37	c.1787G>C	CCDS8305.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.484861	0.63962	.	.	ENSG00000087053	ENST00000346299;ENST00000393223;ENST00000409459;ENST00000352297;ENST00000444541	D;D;D;D;D	0.95821	-3.59;-3.82;-3.82;-3.82;-3.82	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.95095	0.8411	M	0.78637	2.42	0.80722	D	1	B	0.23442	0.085	B	0.18561	0.022	D	0.91725	0.5392	10	0.22706	T	0.39	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	596	Q13614	MTMR2_HUMAN	T	596;524;524;524;524	ENSP00000345752:R596T;ENSP00000376915:R524T;ENSP00000386882:R524T;ENSP00000343737:R524T;ENSP00000396020:R524T	ENSP00000345752:R596T	R	-	2	0	MTMR2	95208247	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.596000	0.67570	2.941000	0.99782	0.655000	0.94253	AGA		0.408	MTMR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332620.1		NM_016156		9	128	0	0	0	0.006214	0	9	128		
TECTA	7007	broad.mit.edu	37	11	120996394	120996394	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr11:120996394G>C	ENST00000392793.1	+	8	1858	c.1587G>C	c.(1585-1587)aaG>aaC	p.K529N	TECTA_ENST00000264037.2_Missense_Mutation_p.K529N			O75443	TECTA_HUMAN	tectorin alpha	529	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TCCTCAACAAGACAGACGGCC	0.597																																						uc010rzo.1		NaN																	0				breast(6)|ovary(2)|skin(2)	10						c.(1585-1587)AAG>AAC		tectorin alpha precursor							132.0	135.0	134.0					11																	120996394		2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120996394G>C	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.1587G>C	11.37:g.120996394G>C	ENSP00000376543:p.Lys529Asn						p.K529N	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	7	1587	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	529			VWFD 1.			Missense_Mutation	SNP	ENST00000392793.1	37	c.1587G>C	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.335160	0.41398	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.76316	-1.01;-1.01	4.91	4.91	0.64330	von Willebrand factor, type D domain (1);Uncharacterised domain, cysteine-rich (2);	0.165657	0.52532	D	0.000069	T	0.75867	0.3908	N	0.26042	0.785	0.35144	D	0.769139	D	0.62365	0.991	P	0.59424	0.857	T	0.75651	-0.3244	10	0.16896	T	0.51	.	12.882	0.58022	0.0791:0.0:0.9209:0.0	.	529	O75443	TECTA_HUMAN	N	529	ENSP00000376543:K529N;ENSP00000264037:K529N	ENSP00000264037:K529N	K	+	3	2	TECTA	120501604	1.000000	0.71417	0.998000	0.56505	0.795000	0.44927	3.094000	0.50227	2.453000	0.82957	0.563000	0.77884	AAG		0.597	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1		NM_005422		29	189	0	0	0	0.002836	0	29	189		
SNX19	399979	broad.mit.edu	37	11	130785020	130785020	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr11:130785020C>G	ENST00000265909.4	-	1	1384	c.815G>C	c.(814-816)aGa>aCa	p.R272T	SNX19_ENST00000530356.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.R272T|SNX19_ENST00000528555.1_Intron	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	272	PXA. {ECO:0000255|PROSITE- ProRule:PRU00147, ECO:0000255|PROSITE- ProRule:PRU00553}.				protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		TGCTGGATCTCTGGCCTTGGA	0.547																																						uc001qgk.3		NaN																	0				ovary(2)|lung(2)	4						c.(814-816)AGA>ACA		sorting nexin 19							74.0	79.0	78.0					11																	130785020		2201	4297	6498	SO:0001583	missense	399979				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr11:130785020C>G	D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"""Sorting nexins"""	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.815G>C	11.37:g.130785020C>G	ENSP00000265909:p.Arg272Thr					SNX19_uc010sce.1_Intron|SNX19_uc010scf.1_Intron|SNX19_uc010scg.1_Intron|SNX19_uc001qgl.3_Missense_Mutation_p.R272T|SNX19_uc009zcx.1_Intron	p.R272T	NM_014758	NP_055573	Q92543	SNX19_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)	1	1363	-	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)	272			PXA.		E9PKB9|Q8IV55	Missense_Mutation	SNP	ENST00000265909.4	37	c.815G>C	CCDS31721.1	.	.	.	.	.	.	.	.	.	.	C	8.365	0.834003	0.16820	.	.	ENSG00000120451	ENST00000265909;ENST00000533214	T;T	0.14766	2.9;2.48	5.05	-0.403	0.12400	Phox-associated domain (1);PX-associated, sorting nexin 13 (1);	1.586070	0.03079	N	0.158215	T	0.13756	0.0333	L	0.44542	1.39	0.09310	N	0.999994	B;B	0.11235	0.004;0.002	B;B	0.06405	0.002;0.002	T	0.35176	-0.9799	10	0.48119	T	0.1	-4.0861	7.2255	0.26012	0.0:0.4554:0.1145:0.4302	.	272;272	E9PKB9;Q92543	.;SNX19_HUMAN	T	272	ENSP00000265909:R272T;ENSP00000435390:R272T	ENSP00000265909:R272T	R	-	2	0	SNX19	130290230	0.733000	0.28132	0.027000	0.17364	0.676000	0.39594	1.214000	0.32419	0.040000	0.15660	-0.142000	0.14014	AGA		0.547	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385649.1		NM_014758		20	118	0	0	0	0.010504	0	20	118		
KCNA5	3741	broad.mit.edu	37	12	5153719	5153719	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr12:5153719G>A	ENST00000252321.3	+	1	635	c.406G>A	c.(406-408)Ggc>Agc	p.G136S		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	136					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	GACGCAGCTGGGCACCCTGGC	0.677																																						uc001qni.2		NaN																	0				ovary(2)|breast(2)	4						c.(406-408)GGC>AGC		potassium voltage-gated channel, shaker-related							29.0	30.0	30.0					12																	5153719		2203	4300	6503	SO:0001583	missense	3741					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr12:5153719G>A	M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.406G>A	12.37:g.5153719G>A	ENSP00000252321:p.Gly136Ser						p.G136S	NM_002234	NP_002225	P22460	KCNA5_HUMAN			1	635	+			136					Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	ENST00000252321.3	37	c.406G>A	CCDS8536.1	.	.	.	.	.	.	.	.	.	.	G	10.04	1.240814	0.22711	.	.	ENSG00000130037	ENST00000252321	T	0.74315	-0.83	4.7	4.7	0.59300	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.64402	U	0.000006	T	0.43809	0.1264	N	0.00280	-1.71	0.43214	D	0.995086	B	0.15473	0.013	B	0.20384	0.029	T	0.52185	-0.8609	10	0.54805	T	0.06	.	16.8208	0.85745	0.0:0.0:1.0:0.0	.	136	P22460	KCNA5_HUMAN	S	136	ENSP00000252321:G136S	ENSP00000252321:G136S	G	+	1	0	KCNA5	5023980	0.000000	0.05858	1.000000	0.80357	0.984000	0.73092	-0.498000	0.06420	2.443000	0.82685	0.511000	0.50034	GGC		0.677	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2		NM_002234		14	66	0	0	0	0.001855	0	14	66		
VWF	7450	broad.mit.edu	37	12	6078463	6078463	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr12:6078463G>C	ENST00000261405.5	-	45	7897	c.7643C>G	c.(7642-7644)tCc>tGc	p.S2548C		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2548					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTGGGGGCAGGAGACGTTCCT	0.607																																						uc001qnn.1		NaN																	0				skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12						c.(7642-7644)TCC>TGC		von Willebrand factor preproprotein	Antihemophilic Factor(DB00025)						49.0	49.0	49.0					12																	6078463		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6078463G>C		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.7643C>G	12.37:g.6078463G>C	ENSP00000261405:p.Ser2548Cys					VWF_uc010set.1_Intron	p.S2548C	NM_000552	NP_000543	P04275	VWF_HUMAN			45	7893	-			2548					Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.7643C>G	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341784	0.61073	.	.	ENSG00000110799	ENST00000261405	T	0.37915	1.17	4.87	4.87	0.63330	.	0.000000	0.44097	D	0.000497	T	0.61553	0.2356	M	0.85197	2.74	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.66551	-0.5895	10	0.72032	D	0.01	.	11.2581	0.49067	0.0:0.1845:0.8155:0.0	.	2548	P04275	VWF_HUMAN	C	2548	ENSP00000261405:S2548C	ENSP00000261405:S2548C	S	-	2	0	VWF	5948724	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	4.379000	0.59575	2.530000	0.85305	0.561000	0.74099	TCC		0.607	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1		NM_000552		6	84	0	0	0	0.001168	0	6	84		
CD163	9332	broad.mit.edu	37	12	7635996	7635996	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr12:7635996C>T	ENST00000359156.4	-	12	3257	c.3055G>A	c.(3055-3057)Ggg>Agg	p.G1019R	CD163_ENST00000432237.2_Missense_Mutation_p.G1019R|CD163_ENST00000539632.1_5'UTR|CD163_ENST00000541972.1_Missense_Mutation_p.G1007R|CD163_ENST00000396620.3_Missense_Mutation_p.G1052R	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1019	SRCR 9. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	TCCTTGTGCCCACACTCACTA	0.537																																						uc001qsz.3		NaN																	0				ovary(6)|pancreas(1)|skin(1)	8						c.(3055-3057)GGG>AGG		CD163 antigen isoform a							103.0	91.0	95.0					12																	7635996		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7635996C>T	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.3055G>A	12.37:g.7635996C>T	ENSP00000352071:p.Gly1019Arg					CD163_uc001qta.3_Missense_Mutation_p.G1019R|CD163_uc009zfw.2_Missense_Mutation_p.G1052R	p.G1019R	NM_004244	NP_004235	Q86VB7	C163A_HUMAN			12	3183	-			1019			SRCR 9.|Extracellular (Potential).		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.3055G>A	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.583551	0.46006	.	.	ENSG00000177575	ENST00000359156;ENST00000542280;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54	5.3	2.45	0.29901	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.275191	0.31358	N	0.007781	T	0.34424	0.0897	L	0.45051	1.395	0.09310	N	1	D;P;D	0.65815	0.995;0.956;0.977	D;P;P	0.66602	0.945;0.565;0.791	T	0.16335	-1.0406	10	0.18710	T	0.47	.	2.7487	0.05274	0.1476:0.5471:0.1432:0.1621	.	1052;1019;1019	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	R	1019;59;1007;1052;1019	ENSP00000352071:G1019R;ENSP00000445438:G59R;ENSP00000444071:G1007R;ENSP00000379863:G1052R;ENSP00000403885:G1019R	ENSP00000352071:G1019R	G	-	1	0	CD163	7527263	0.000000	0.05858	0.619000	0.29118	0.639000	0.38242	-1.559000	0.02162	0.312000	0.23038	0.555000	0.69702	GGG		0.537	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2		NM_004244, NM_203416		7	56	0	0	0	0.00308	0	7	56		
SLCO1A2	6579	broad.mit.edu	37	12	21427510	21427510	+	Silent	SNP	A	A	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr12:21427510A>C	ENST00000307378.6	-	15	2406	c.1686T>G	c.(1684-1686)ccT>ccG	p.P562P	SLCO1A2_ENST00000452078.1_Silent_p.P562P|SLCO1A2_ENST00000458504.1_Silent_p.P430P|SLCO1A2_ENST00000537524.1_Silent_p.P430P	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	562					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	ATATAGGTGCAGGAATGCCAG	0.363																																						uc001rer.2		NaN																	0				large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						c.(1684-1686)CCT>CCG		organic anion transporting polypeptide A							85.0	84.0	84.0					12																	21427510		2203	4300	6503	SO:0001819	synonymous_variant	6579				bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21427510A>C		CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"""Solute carriers"""	10956	protein-coding gene	gene with protein product		602883	"""solute carrier family 21 (organic anion transporter), member 3"""	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.1686T>G	12.37:g.21427510A>C						SLCO1A2_uc001res.2_Silent_p.P562P|SLCO1A2_uc010siq.1_Silent_p.P430P|SLCO1A2_uc010sio.1_Silent_p.P430P|SLCO1A2_uc010sip.1_Silent_p.P430P	p.P562P	NM_021094	NP_066580	P46721	SO1A2_HUMAN			13	1937	-			562			Helical; Name=11; (Potential).		Q9UGP7|Q9UL38	Silent	SNP	ENST00000307378.6	37	c.1686T>G	CCDS8686.1																																																																																				0.363	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343648.3		NM_021094		15	140	0	0	0	0.006122	0	15	140		
SYT10	341359	broad.mit.edu	37	12	33579134	33579134	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr12:33579134C>G	ENST00000228567.3	-	2	744	c.448G>C	c.(448-450)Gaa>Caa	p.E150Q	SYT10_ENST00000567656.1_5'Flank|SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	150					regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					ATTAAATGTTCTTTTAAAGCA	0.398																																						uc001rll.1		NaN																	0				ovary(1)|skin(1)	2						c.(448-450)GAA>CAA		synaptotagmin X							187.0	195.0	193.0					12																	33579134		2203	4300	6503	SO:0001583	missense	341359					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr12:33579134C>G	AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"""Synaptotagmins"""	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.448G>C	12.37:g.33579134C>G	ENSP00000228567:p.Glu150Gln					SYT10_uc009zju.1_5'UTR	p.E150Q	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN			2	745	-	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)		150			Cytoplasmic (Potential).		Q495U2	Missense_Mutation	SNP	ENST00000228567.3	37	c.448G>C	CCDS8732.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.093562	0.76756	.	.	ENSG00000110975	ENST00000228567	T	0.52526	0.66	3.78	3.78	0.43462	.	0.000000	0.42294	U	0.000734	T	0.47377	0.1442	M	0.71206	2.165	0.80722	D	1	B	0.29571	0.249	B	0.25884	0.064	T	0.53725	-0.8398	10	0.42905	T	0.14	.	15.8987	0.79356	0.0:1.0:0.0:0.0	.	150	Q6XYQ8	SYT10_HUMAN	Q	150	ENSP00000228567:E150Q	ENSP00000228567:E150Q	E	-	1	0	SYT10	33470401	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.798000	0.75155	2.390000	0.81377	0.655000	0.94253	GAA		0.398	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1		NM_198992		34	317	0	0	0	0.003755	0	34	317		
PCED1B	91523	broad.mit.edu	37	12	47471606	47471606	+	5'Flank	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr12:47471606C>G	ENST00000546455.1	+	0	0				AMIGO2_ENST00000321382.3_Missense_Mutation_p.E394Q|AMIGO2_ENST00000266581.4_Missense_Mutation_p.E394Q|AMIGO2_ENST00000429635.1_Missense_Mutation_p.E394Q|AMIGO2_ENST00000550413.1_Missense_Mutation_p.E394Q			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B								hydrolase activity (GO:0016787)										TTAAATGCCTCATGAGCATGG	0.428																																						uc001rpm.2		NaN																	0				ovary(1)|skin(1)	2						c.(1180-1182)GAG>CAG		adhesion molecule with Ig-like domain 2							136.0	131.0	133.0					12																	47471606		2203	4300	6503	SO:0001631	upstream_gene_variant	347902				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane		g.chr12:47471606C>G	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617		12.37:g.47471606C>G	Exception_encountered					FAM113B_uc001rpn.2_5'Flank|AMIGO2_uc001rpk.2_Missense_Mutation_p.E394Q|AMIGO2_uc001rpl.2_Missense_Mutation_p.E394Q	p.E394Q	NM_001143668	NP_001137140	Q86SJ2	AMGO2_HUMAN			3	1835	-	Renal(347;0.138)|Lung SC(27;0.192)		394			Extracellular (Potential).		Q96B20	Missense_Mutation	SNP	ENST00000546455.1	37	c.1180G>C	CCDS8752.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.284696	0.80803	.	.	ENSG00000139211	ENST00000266581;ENST00000550413;ENST00000429635;ENST00000321382	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	5.08	5.08	0.68730	.	0.114290	0.64402	D	0.000020	T	0.67748	0.2926	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.65059	-0.6260	10	0.36615	T	0.2	-20.1853	18.35	0.90335	0.0:1.0:0.0:0.0	.	394	Q86SJ2	AMGO2_HUMAN	Q	394	ENSP00000266581:E394Q;ENSP00000449034:E394Q;ENSP00000406020:E394Q;ENSP00000320848:E394Q	ENSP00000266581:E394Q	E	-	1	0	AMIGO2	45757873	1.000000	0.71417	0.986000	0.45419	0.994000	0.84299	7.287000	0.78681	2.740000	0.93945	0.555000	0.69702	GAG		0.428	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1		NM_138371		12	63	0	0	0	0.010729	0	12	63		
FMNL3	91010	broad.mit.edu	37	12	50044479	50044479	+	Silent	SNP	C	C	T	rs200589328	byFrequency	TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr12:50044479C>T	ENST00000293590.5	-	17	2213	c.1980G>A	c.(1978-1980)gaG>gaA	p.E660E	FMNL3_ENST00000352151.5_Silent_p.E609E|FMNL3_ENST00000335154.5_Silent_p.E660E|FMNL3_ENST00000550488.1_Silent_p.E660E			Q8IVF7	FMNL3_HUMAN	formin-like 3	660	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						CCCTGCAGATCTCCTCAGCCG	0.592													C|||	5	0.000998403	0.0	0.0014	5008	,	,		20006	0.0		0.004	False		,,,				2504	0.0					uc001ruv.1		NaN																	0				breast(2)|pancreas(2)	4						c.(1978-1980)GAG>GAA		formin-like 3 isoform 1		C	,	0,4088		0,0,2044	89.0	87.0	88.0		1980,1827	4.2	1.0	12	dbSNP_132	88	26,8384		0,26,4179	no	coding-synonymous,coding-synonymous	FMNL3	NM_175736.4,NM_198900.2	,	0,26,6223	TT,TC,CC		0.3092,0.0,0.208	,	660/1028,609/977	50044479	26,12472	2044	4205	6249	SO:0001819	synonymous_variant	91010				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr12:50044479C>T	AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.1980G>A	12.37:g.50044479C>T						FMNL3_uc001ruw.1_Silent_p.E609E|FMNL3_uc001rut.1_Silent_p.E226E|FMNL3_uc001ruu.1_Silent_p.E510E	p.E660E	NM_175736	NP_783863	Q8IVF7	FMNL3_HUMAN			17	2214	-			660			FH2.		B0JZA7|Q6ZRJ1	Silent	SNP	ENST00000293590.5	37	c.1980G>A																																																																																					0.592	FMNL3-201	KNOWN	basic	protein_coding	protein_coding			NM_175736		5	97	0	0	0	0.000602	0	5	97		
SBNO1	55206	broad.mit.edu	37	12	123815804	123815804	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr12:123815804C>G	ENST00000602398.1	-	8	1155	c.1028G>C	c.(1027-1029)aGa>aCa	p.R343T	SBNO1_ENST00000420886.2_Missense_Mutation_p.R343T|SBNO1_ENST00000602750.1_Missense_Mutation_p.R342T|SBNO1_ENST00000267176.4_Missense_Mutation_p.R342T			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	343					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)		TGCTCGTTTTCTACTCAACAA	0.463																																						uc010tap.1		NaN																	0				breast(5)|skin(2)|ovary(1)|kidney(1)	9						c.(1027-1029)AGA>ACA		sno, strawberry notch homolog 1							133.0	118.0	123.0					12																	123815804		2203	4300	6503	SO:0001583	missense	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123815804C>G	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.1028G>C	12.37:g.123815804C>G	ENSP00000473665:p.Arg343Thr					SBNO1_uc010tao.1_Missense_Mutation_p.R342T|SBNO1_uc010taq.1_Intron|SBNO1_uc001uet.2_Missense_Mutation_p.R343T|SBNO1_uc001ueu.2_Missense_Mutation_p.R342T|SBNO1_uc001uev.2_Missense_Mutation_p.R341T|SBNO1_uc009zxy.1_Missense_Mutation_p.R308T	p.R343T	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	7	1028	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		343					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	c.1028G>C	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.960178	0.92791	.	.	ENSG00000139697	ENST00000420886;ENST00000267176;ENST00000442601	D;D	0.93488	-3.23;-3.23	5.83	5.83	0.93111	Helicase/UvrB domain (1);	0.000000	0.85682	D	0.000000	D	0.97942	0.9323	H	0.95539	3.685	0.80722	D	1	D;P;D	0.76494	0.999;0.746;0.989	D;P;D	0.79784	0.993;0.655;0.985	D	0.98479	1.0604	10	0.87932	D	0	-36.261	20.1218	0.97964	0.0:1.0:0.0:0.0	.	343;342;341	A3KN83;A3KN83-2;A3KN83-3	SBNO1_HUMAN;.;.	T	343;342;342	ENSP00000387361:R343T;ENSP00000267176:R342T	ENSP00000267176:R342T	R	-	2	0	SBNO1	122381757	1.000000	0.71417	0.998000	0.56505	0.898000	0.52572	7.794000	0.85869	2.763000	0.94921	0.561000	0.74099	AGA		0.463	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1		NM_018183		6	127	0	0	0	0.00308	0	6	127		
SACS	26278	broad.mit.edu	37	13	23913766	23913766	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr13:23913766C>T	ENST00000382292.3	-	9	4522	c.4249G>A	c.(4249-4251)Gaa>Aaa	p.E1417K	SACS_ENST00000402364.1_Missense_Mutation_p.E667K|SACS_ENST00000382298.3_Missense_Mutation_p.E1417K			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1417					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ATGATTGGTTCCACAGAATCT	0.368																																						uc001uon.2		NaN																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(4249-4251)GAA>AAA		sacsin							162.0	151.0	155.0					13																	23913766		2203	4300	6503	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23913766C>T	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.4249G>A	13.37:g.23913766C>T	ENSP00000371729:p.Glu1417Lys					SACS_uc001uoo.2_Missense_Mutation_p.E1270K|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.E1417K	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	4838	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	1417					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.4249G>A	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	26.9	4.783165	0.90282	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.93953	-3.32;-3.32;-3.32	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.95306	0.8477	L	0.55481	1.735	0.58432	D	0.999999	D	0.59357	0.985	P	0.58172	0.834	D	0.94658	0.7845	10	0.56958	D	0.05	.	20.6244	0.99512	0.0:1.0:0.0:0.0	.	1417	Q9NZJ4	SACS_HUMAN	K	1417;667;1417	ENSP00000371729:E1417K;ENSP00000385844:E667K;ENSP00000371735:E1417K	ENSP00000371729:E1417K	E	-	1	0	SACS	22811766	1.000000	0.71417	0.996000	0.52242	0.918000	0.54935	7.487000	0.81328	2.879000	0.98667	0.650000	0.86243	GAA		0.368	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3		NM_014363		16	107	0	0	0	0.004007	0	16	107		
NAA16	79612	broad.mit.edu	37	13	41946363	41946363	+	Missense_Mutation	SNP	G	G	A	rs182176585		TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr13:41946363G>A	ENST00000379406.3	+	16	2296	c.1972G>A	c.(1972-1974)Gtt>Att	p.V658I	NAA16_ENST00000497143.1_3'UTR	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	658					N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						AGAGGAAGCCGTTAAGTTCCT	0.279													G|||	1	0.000199681	0.0	0.0	5008	,	,		15738	0.0		0.001	False		,,,				2504	0.0					uc001uyf.2		NaN																	0				central_nervous_system(1)	1						c.(1972-1974)GTT>ATT		NMDA receptor regulated 1-like protein isoform							78.0	79.0	79.0					13																	41946363		2203	4291	6494	SO:0001583	missense	79612				N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding	g.chr13:41946363G>A	AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"""N(alpha)-acetyltransferase subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	26164	protein-coding gene	gene with protein product			"""NMDA receptor regulated 1-like"""	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.1972G>A	13.37:g.41946363G>A	ENSP00000368716:p.Val658Ile					NAA16_uc010tfg.1_Intron	p.V658I	NM_024561	NP_078837	Q6N069	NAA16_HUMAN			16	2296	+			658					B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Missense_Mutation	SNP	ENST00000379406.3	37	c.1972G>A	CCDS9379.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	2.354	-0.348215	0.05208	.	.	ENSG00000172766	ENST00000379406	T	0.41400	1.0	5.03	2.56	0.30785	Tetratricopeptide-like helical (1);	0.080592	0.50627	N	0.000101	T	0.14227	0.0344	N	0.01761	-0.735	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.10154	-1.0642	10	0.07990	T	0.79	-3.7389	9.0413	0.36319	0.8401:0.0:0.1599:0.0	.	658	Q6N069	NAA16_HUMAN	I	658	ENSP00000368716:V658I	ENSP00000368716:V658I	V	+	1	0	NAA16	40844363	1.000000	0.71417	0.995000	0.50966	0.980000	0.70556	3.114000	0.50383	0.758000	0.33059	-0.469000	0.05056	GTT		0.279	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044672.2		NM_018527		62	34	0	0	0	0.00361	0	62	34		
LRP10	26020	broad.mit.edu	37	14	23344898	23344898	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr14:23344898G>A	ENST00000359591.4	+	5	1432	c.741G>A	c.(739-741)gtG>gtA	p.V247V	LRP10_ENST00000546834.1_Silent_p.V247V	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	247	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				endocytosis (GO:0006897)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		GAGATGCAGTGCATGTGTATG	0.627																																						uc001whd.2		NaN																	0				central_nervous_system(1)	1						c.(739-741)GTG>GTA		low density lipoprotein receptor-related protein							78.0	72.0	74.0					14																	23344898		2203	4300	6503	SO:0001819	synonymous_variant	26020				endocytosis	coated pit|integral to membrane		g.chr14:23344898G>A	AF131760	CCDS9578.1	14q11.2	2013-05-29			ENSG00000197324	ENSG00000197324		"""Low density lipoprotein receptors"""	14553	protein-coding gene	gene with protein product		609921				11123907	Standard	XM_005267510		Approved	DKFZP564C1940, MGC8675, LRP9, MST087, MSTP087	uc001whd.3	Q7Z4F1	OTTHUMG00000028705	ENST00000359591.4:c.741G>A	14.37:g.23344898G>A						LRP10_uc001whe.2_Silent_p.V123V	p.V247V	NM_014045	NP_054764	Q7Z4F1	LRP10_HUMAN		GBM - Glioblastoma multiforme(265;0.00549)	5	1294	+	all_cancers(95;4.69e-05)		247			CUB 2.|Extracellular (Potential).		A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	Silent	SNP	ENST00000359591.4	37	c.741G>A	CCDS9578.1	.	.	.	.	.	.	.	.	.	.	G	7.760	0.705194	0.15172	.	.	ENSG00000197324	ENST00000551466	.	.	.	5.97	1.97	0.26223	.	.	.	.	.	T	0.53948	0.1828	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40850	-0.9541	4	.	.	.	-15.3759	6.2713	0.20956	0.2197:0.2435:0.5367:0.0	.	.	.	.	T	149	.	.	A	+	1	0	LRP10	22414738	0.000000	0.05858	0.997000	0.53966	0.990000	0.78478	-0.675000	0.05227	0.088000	0.17205	0.655000	0.94253	GCA		0.627	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071663.3				11	80	0	0	0	0.010729	0	11	80		
ACIN1	22985	broad.mit.edu	37	14	23548778	23548778	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr14:23548778G>A	ENST00000262710.1	-	6	2267	c.1940C>T	c.(1939-1941)tCa>tTa	p.S647L	ACIN1_ENST00000555053.1_Missense_Mutation_p.S647L|ACIN1_ENST00000555352.1_5'Flank|ACIN1_ENST00000457657.1_Missense_Mutation_p.S607L|ACIN1_ENST00000605057.1_Missense_Mutation_p.S589L	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	647	Ser-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GCTTGATGCTGAACGAGAACG	0.498																																						uc001wit.3		NaN																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(1939-1941)TCA>TTA		apoptotic chromatin condensation inducer 1							233.0	216.0	222.0					14																	23548778		2203	4300	6503	SO:0001583	missense	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23548778G>A	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.1940C>T	14.37:g.23548778G>A	ENSP00000262710:p.Ser647Leu					ACIN1_uc001wis.3_Missense_Mutation_p.S329L|ACIN1_uc010akg.2_Missense_Mutation_p.S647L|ACIN1_uc010tnj.1_Missense_Mutation_p.S607L	p.S647L	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	6	2268	-	all_cancers(95;1.36e-05)		647			Ser-rich.		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	c.1940C>T	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.077790	0.76528	.	.	ENSG00000100813	ENST00000262710;ENST00000457657;ENST00000555053	T;T;T	0.30448	2.31;1.53;2.29	5.41	5.41	0.78517	.	0.000000	0.34507	N	0.003909	T	0.42086	0.1187	L	0.27053	0.805	0.31876	N	0.619035	D;D;D	0.63046	0.992;0.987;0.987	D;D;D	0.71656	0.974;0.942;0.942	T	0.49031	-0.8981	10	0.59425	D	0.04	-8.2918	14.6851	0.69044	0.0:0.0:1.0:0.0	.	647;647;607	G3V3M7;Q9UKV3;E7EQT4	.;ACINU_HUMAN;.	L	647;607;647	ENSP00000262710:S647L;ENSP00000405677:S607L;ENSP00000451328:S647L	ENSP00000262710:S647L	S	-	2	0	ACIN1	22618618	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.150000	0.58098	2.499000	0.84300	0.655000	0.94253	TCA		0.498	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3		NM_014977		54	582	0	0	0	0.00361	0	54	582		
NYNRIN	57523	broad.mit.edu	37	14	24878129	24878129	+	Silent	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr14:24878129C>T	ENST00000382554.3	+	4	1447	c.1129C>T	c.(1129-1131)Cta>Tta	p.L377L		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	377					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						GCTGCATTCTCTACATCTGGC	0.602																																						uc001wpf.3		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1129-1131)CTA>TTA		hypothetical protein LOC57523							34.0	35.0	35.0					14																	24878129		1918	4129	6047	SO:0001819	synonymous_variant	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24878129C>T	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.1129C>T	14.37:g.24878129C>T							p.L377L	NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN			4	1447	+			377					Q6P153|Q86TR3|Q9HAC4	Silent	SNP	ENST00000382554.3	37	c.1129C>T	CCDS45090.1																																																																																				0.602	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1				11	27	0	0	0	0.008291	0	11	27		
FANCM	57697	broad.mit.edu	37	14	45658163	45658163	+	Silent	SNP	A	A	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr14:45658163A>C	ENST00000267430.5	+	20	5023	c.4938A>C	c.(4936-4938)gcA>gcC	p.A1646A	FANCM_ENST00000542564.2_Silent_p.A1620A	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1646					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						CTCGACGTGCAGTAATGCTAA	0.318								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc001wwd.3		NaN																	0				ovary(3)|lung(2)|breast(2)	7						c.(4936-4938)GCA>GCC	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group M							71.0	76.0	74.0					14																	45658163		2203	4299	6502	SO:0001819	synonymous_variant	57697	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45658163A>C	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.4938A>C	14.37:g.45658163A>C						FANCM_uc010anf.2_Silent_p.A1620A|FANCM_uc001wwe.3_Silent_p.A1182A|FANCM_uc010ang.2_Silent_p.A860A	p.A1646A	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN			20	5037	+			1646					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Silent	SNP	ENST00000267430.5	37	c.4938A>C	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	A	9.046	0.990948	0.18966	.	.	ENSG00000187790	ENST00000554809	.	.	.	5.67	4.52	0.55395	.	.	.	.	.	T	0.59649	0.2209	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57470	-0.7806	4	.	.	.	.	8.9707	0.35905	0.9155:0.0:0.0845:0.0	.	.	.	.	R	579	.	.	S	+	1	0	FANCM	44727913	0.977000	0.34250	1.000000	0.80357	0.859000	0.49053	1.832000	0.39151	2.285000	0.76669	0.528000	0.53228	AGT		0.318	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1		XM_048128		19	82	0	0	0	0.008871	0	19	82		
PSMC6	5706	broad.mit.edu	37	14	53190725	53190725	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr14:53190725C>G	ENST00000606149.1	+	13	1038	c.1022C>G	c.(1021-1023)gCa>gGa	p.A341G	PSMC6_ENST00000445930.2_Missense_Mutation_p.A355G|PSMC6_ENST00000557557.1_3'UTR	NM_002806.3	NP_002797.3	P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	341					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein binding, bridging (GO:0030674)			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					TTTAATGGAGCAGATCTGAGA	0.289																																						uc010tqx.1		NaN																	0				lung(1)	1						c.(1063-1065)GCA>GGA		proteasome 26S ATPase subunit 6							108.0	111.0	110.0					14																	53190725		2203	4300	6503	SO:0001583	missense	5706				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging	g.chr14:53190725C>G		CCDS9710.2	14q22.1	2010-04-21			ENSG00000100519	ENSG00000100519		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9553	protein-coding gene	gene with protein product		602708				8674546, 9473509	Standard	NM_002806		Approved	p42	uc010tqx.2	P62333	OTTHUMG00000152333	ENST00000606149.1:c.1022C>G	14.37:g.53190725C>G	ENSP00000475721:p.Ala341Gly					PSMC6_uc001wzy.2_RNA	p.A355G	NM_002806	NP_002797	P62333	PRS10_HUMAN			13	1064	+	Breast(41;0.176)		341					B2R975|P49719|Q6IBU3|Q92524	Missense_Mutation	SNP	ENST00000606149.1	37	c.1064C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.13|18.13	3.556342|3.556342	0.65425|0.65425	.|.	.|.	ENSG00000100519|ENSG00000100519	ENST00000445930|ENST00000556813	D|.	0.95205|.	-3.64|.	5.21|5.21	5.21|5.21	0.72293|0.72293	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.91513|0.91513	0.7320|0.7320	H|H	0.99357|0.99357	4.53|4.53	0.80722|0.80722	D|D	1|1	D|.	0.54772|.	0.968|.	P|.	0.55087|.	0.768|.	D|D	0.95023|0.95023	0.8162|0.8162	10|5	0.87932|.	D|.	0|.	.|.	19.123|19.123	0.93371|0.93371	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	341|.	P62333|.	PRS10_HUMAN|.	G|R	355|252	ENSP00000401802:A355G|.	ENSP00000401802:A355G|.	A|S	+|+	2|3	0|2	PSMC6|PSMC6	52260475|52260475	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.445000|7.445000	0.80570|0.80570	2.575000|2.575000	0.86900|0.86900	0.655000|0.655000	0.94253|0.94253	GCA|AGC		0.289	PSMC6-018	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470741.1		NM_002806		7	97	0	0	0	0.001984	0	7	97		
RTN1	6252	broad.mit.edu	37	14	60193839	60193839	+	Silent	SNP	G	G	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr14:60193839G>T	ENST00000267484.5	-	3	1898	c.1563C>A	c.(1561-1563)tcC>tcA	p.S521S		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	521					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		AGTCGAGGAAGGAACCCGGCT	0.721																																						uc001xen.1		NaN																	0				ovary(2)|central_nervous_system(2)	4						c.(1561-1563)TCC>TCA		reticulon 1 isoform A							13.0	16.0	15.0					14																	60193839		2196	4289	6485	SO:0001819	synonymous_variant	6252				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	g.chr14:60193839G>T	L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.1563C>A	14.37:g.60193839G>T						RTN1_uc001xem.1_Silent_p.S101S	p.S521S	NM_021136	NP_066959	Q16799	RTN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0968)	3	1772	-			521					Q16800|Q16801|Q5BKZ4|Q9BQ59	Silent	SNP	ENST00000267484.5	37	c.1563C>A	CCDS9740.1																																																																																				0.721	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2				3	8	1	0	0.004672	0.004672	0.00475916	3	8		
COX16	51241	broad.mit.edu	37	14	70793096	70793096	+	Missense_Mutation	SNP	A	A	C	rs139121123		TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr14:70793096A>C	ENST00000389912.6	-	4	418	c.275T>G	c.(274-276)cTc>cGc	p.L92R	COX16_ENST00000557612.1_5'UTR|SYNJ2BP-COX16_ENST00000555276.1_RNA	NM_016468.6	NP_057552.1	Q9P0S2	COX16_HUMAN	COX16 cytochrome c oxidase assembly homolog (S. cerevisiae)	92						integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)				large_intestine(1)|lung(2)	3						TCCTTGGAGGAGGTCAGGATC	0.328																																						uc001xmb.2		NaN																	0					0						c.(274-276)CTC>CGC		COX16 cytochrome c oxidase assembly homolog							44.0	45.0	45.0					14																	70793096		2203	4300	6503	SO:0001583	missense	51241					integral to membrane|mitochondrial membrane		g.chr14:70793096A>C	AF151037	CCDS9802.1	14q24.2	2013-05-10	2008-08-14	2008-06-23	ENSG00000133983	ENSG00000133983			20213	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 112"""	C14orf112		11042152, 15596615	Standard	NM_016468		Approved	HSPC203		Q9P0S2	OTTHUMG00000171238	ENST00000389912.6:c.275T>G	14.37:g.70793096A>C	ENSP00000374562:p.Leu92Arg						p.L92R	NM_016468	NP_057552	Q9P0S2	COX16_HUMAN			4	415	-			92					A6NDT5|A8K3X8	Missense_Mutation	SNP	ENST00000389912.6	37	c.275T>G	CCDS9802.1	.	.	.	.	.	.	.	.	.	.	A	15.80	2.940321	0.52972	.	.	ENSG00000133983	ENST00000389912	.	.	.	5.46	5.46	0.80206	.	0.681624	0.12107	U	0.498894	T	0.35393	0.0930	L	0.50333	1.59	0.27237	N	0.959239	B	0.34103	0.437	B	0.29942	0.109	T	0.20273	-1.0280	9	0.14252	T	0.57	-25.9482	12.2271	0.54465	1.0:0.0:0.0:0.0	.	92	Q9P0S2	COX16_HUMAN	R	92	.	ENSP00000374562:L92R	L	-	2	0	COX16	69862849	0.991000	0.36638	0.998000	0.56505	0.960000	0.62799	3.132000	0.50523	2.194000	0.70268	0.533000	0.62120	CTC		0.328	COX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412470.2		NM_016468		4	45	0	0	0	0.009096	0	4	45		
NRXN3	9369	broad.mit.edu	37	14	79432421	79432421	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr14:79432421A>G	ENST00000554719.1	+	9	1821	c.1330A>G	c.(1330-1332)Atc>Gtc	p.I444V	NRXN3_ENST00000335750.5_Missense_Mutation_p.I444V	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	213					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TGAAACGGGAATCATGACTGA	0.433																																						uc001xun.2		NaN																	0				ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10						c.(1330-1332)ATC>GTC		neurexin 3 isoform 1 precursor							123.0	107.0	112.0					14																	79432421		2203	4300	6503	SO:0001583	missense	9369				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity	g.chr14:79432421A>G	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.1330A>G	14.37:g.79432421A>G	ENSP00000451648:p.Ile444Val					NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.I569V	p.I444V	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	9	1821	+		Renal(4;0.00876)	817			Laminin G-like 4.|Extracellular (Potential).		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000554719.1	37	c.1330A>G	CCDS9870.1	.	.	.	.	.	.	.	.	.	.	A	11.90	1.775656	0.31411	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750	T;T	0.79554	-1.28;-1.28	5.07	5.07	0.68467	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.052838	0.85682	D	0.000000	T	0.67581	0.2908	.	.	.	0.36403	D	0.863276	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.003	T	0.65985	-0.6035	8	.	.	.	.	10.5267	0.44952	0.8557:0.0:0.0:0.1443	.	817;444	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	V	817;806;444;444	ENSP00000451648:I444V;ENSP00000338349:I444V	.	I	+	1	0	NRXN3	78502174	1.000000	0.71417	0.968000	0.41197	0.638000	0.38207	5.639000	0.67868	2.259000	0.74868	0.374000	0.22700	ATC		0.433	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1		NM_001105250		53	37	0	0	0	0.00361	0	53	37		
FLRT2	23768	broad.mit.edu	37	14	86088385	86088385	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr14:86088385T>C	ENST00000330753.4	+	2	1294	c.527T>C	c.(526-528)gTt>gCt	p.V176A	FLRT2_ENST00000554746.1_Missense_Mutation_p.V176A	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	176					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		AGTGTGCCTGTTGGGCTTCCT	0.502																																						uc001xvr.2		NaN																	0				ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4						c.(526-528)GTT>GCT		fibronectin leucine rich transmembrane protein 2							68.0	71.0	70.0					14																	86088385		2203	4300	6503	SO:0001583	missense	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86088385T>C	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.527T>C	14.37:g.86088385T>C	ENSP00000332879:p.Val176Ala					FLRT2_uc010atd.2_Missense_Mutation_p.V176A	p.V176A	NM_013231	NP_037363	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	1294	+			176			Extracellular (Potential).|LRR 5.		A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	c.527T>C	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	T	3.330	-0.136859	0.06711	.	.	ENSG00000185070	ENST00000330753;ENST00000554746	T;T	0.02236	4.38;4.38	5.72	5.72	0.89469	.	0.058973	0.64402	D	0.000002	T	0.01421	0.0046	N	0.04724	-0.175	0.45318	D	0.998311	P	0.34662	0.462	B	0.30943	0.122	T	0.63703	-0.6577	10	0.08599	T	0.76	-15.9451	16.0071	0.80370	0.0:0.0:0.0:1.0	.	176	O43155	FLRT2_HUMAN	A	176	ENSP00000332879:V176A;ENSP00000451050:V176A	ENSP00000332879:V176A	V	+	2	0	FLRT2	85158138	1.000000	0.71417	0.713000	0.30519	0.705000	0.40729	6.138000	0.71717	2.182000	0.69389	0.528000	0.53228	GTT		0.502	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1				48	58	0	0	0	0.013114	0	48	58		
WDR20	91833	broad.mit.edu	37	14	102675837	102675837	+	Missense_Mutation	SNP	G	G	T	rs12888595	byFrequency	TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr14:102675837G>T	ENST00000342702.3	+	3	1361	c.1330G>T	c.(1330-1332)Ggc>Tgc	p.G444C	WDR20_ENST00000335263.5_Missense_Mutation_p.G444C|WDR20_ENST00000545563.1_Missense_Mutation_p.G271C|WDR20_ENST00000499851.2_Missense_Mutation_p.G187C|WDR20_ENST00000556807.1_Missense_Mutation_p.G383C|WDR20_ENST00000556511.2_Missense_Mutation_p.G383C|WDR20_ENST00000454394.2_Missense_Mutation_p.G475C|WDR20_ENST00000299135.6_3'UTR|WDR20_ENST00000322340.5_Intron|WDR20_ENST00000424963.2_Missense_Mutation_p.G320C	NM_001242418.1|NM_144574.3	NP_001229347.1|NP_653175.2	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	444			G -> C (in dbSNP:rs12888595).							breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						CTCAAATGCTGGCAGCAAAAG	0.537											OREG0022939	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	7	0.00139776	0.0008	0.0	5008	,	,		21052	0.0		0.006	False		,,,				2504	0.0					uc001ykz.2		NaN																	0					0						c.(1330-1332)GGC>TGC		WD repeat domain 20 isoform 2		G	,,CYS/GLY,CYS/GLY,CYS/GLY,CYS/GLY,CYS/GLY,CYS/GLY	7,4399	12.9+/-30.5	0,7,2196	102.0	104.0	103.0		,,1147,1423,1366,1330,1330,1147	5.7	1.0	14	dbSNP_121	103	108,8492	57.9+/-119.4	0,108,4192	yes	utr-3,intron,missense,missense,missense,missense,missense,missense	WDR20	NM_001242414.1,NM_001242415.1,NM_001242416.1,NM_001242417.1,NM_001242418.1,NM_144574.3,NM_181291.2,NM_181308.2	,,159,159,159,159,159,159	0,115,6388	TT,TG,GG		1.2558,0.1589,0.8842	,,benign,benign,benign,benign,benign,benign	,,383/521,475/601,456/582,444/570,444/582,383/509	102675837	115,12891	2203	4300	6503	SO:0001583	missense	91833							g.chr14:102675837G>T	BC028387	CCDS9968.1, CCDS9969.1, CCDS9970.1, CCDS55942.1, CCDS55943.1, CCDS55944.1, CCDS55945.1	14q32.31	2013-01-09				ENSG00000140153		"""WD repeat domain containing"""	19667	protein-coding gene	gene with protein product							Standard	NM_181291		Approved	DMR, MGC33177, FLJ33659	uc010txu.2	Q8TBZ3		ENST00000342702.3:c.1330G>T	14.37:g.102675837G>T	ENSP00000341037:p.Gly444Cys		OREG0022939	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1368	WDR20_uc001yky.1_Missense_Mutation_p.G187C|WDR20_uc001yla.2_Missense_Mutation_p.G320C|WDR20_uc001ylb.2_Missense_Mutation_p.G383C|WDR20_uc010txu.1_Missense_Mutation_p.G475C|WDR20_uc001ylc.2_Intron|WDR20_uc001yld.2_Missense_Mutation_p.G444C|WDR20_uc001yle.2_Missense_Mutation_p.G383C|WDR20_uc001ylf.2_Missense_Mutation_p.G456C	p.G444C	NM_144574	NP_653175	Q8TBZ3	WDR20_HUMAN			3	1379	+			444					B4DN18|E7EUY8|F8W9S4|G3V2F8|G3V5R0|H0YJJ1|Q86TU2|Q8NCN7|Q8WXX2|Q9UF86	Missense_Mutation	SNP	ENST00000342702.3	37	c.1330G>T	CCDS9969.1	6|6	0.0027472527472527475|0.0027472527472527475	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	6|6	0.0079155672823219|0.0079155672823219	G|G	13.41|13.41	2.230107|2.230107	0.39399|0.39399	0.001589|0.001589	0.012558|0.012558	ENSG00000140153|ENSG00000140153	ENST00000335263;ENST00000299135;ENST00000424963;ENST00000342702;ENST00000556807;ENST00000499851;ENST00000454394;ENST00000401892;ENST00000545563|ENST00000556511	T;T;T;T;T;T;T|.	0.49720|.	0.77;0.77;0.77;0.77;0.77;0.77;0.77|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	0.145064|.	0.64402|.	D|.	0.000007|.	T|T	0.57577|0.57577	0.2063|0.2063	L|L	0.34521|0.34521	1.04|1.04	0.58432|0.58432	D|D	0.999999|0.999999	P;P;P;D;P;P;B|.	0.62365|.	0.724;0.88;0.911;0.991;0.898;0.855;0.384|.	B;B;P;P;P;B;B|.	0.60345|.	0.443;0.401;0.621;0.873;0.646;0.326;0.345|.	T|T	0.56312|0.56312	-0.8000|-0.8000	10|5	0.56958|.	D|.	0.05|.	.|.	19.9025|19.9025	0.96993|0.96993	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	rs12888595;rs52818967;rs12888595|rs12888595;rs52818967;rs12888595	475;456;383;444;383;320;444|.	E7EUY8;Q5JPH5;G3V2F8;Q8TBZ3-2;F8W9S4;B3KR43;Q8TBZ3|.	.;.;.;.;.;.;WDR20_HUMAN|.	C|L	444;383;320;444;383;187;475;374;271|374	ENSP00000335434:G444C;ENSP00000395793:G320C;ENSP00000341037:G444C;ENSP00000450636:G383C;ENSP00000443641:G187C;ENSP00000406084:G475C;ENSP00000437927:G271C|.	ENSP00000299135:G383C|.	G|W	+|+	1|2	0|0	WDR20|WDR20	101745590|101745590	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.938000|0.938000	0.57974|0.57974	3.743000|3.743000	0.55104|0.55104	2.722000|2.722000	0.93159|0.93159	0.655000|0.655000	0.94253|0.94253	GGC|TGG		0.537	WDR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414963.1		NM_181291		6	104	1	0	3.59834e-05	0.001168	3.73515e-05	6	104		
AHNAK2	113146	broad.mit.edu	37	14	105408168	105408168	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr14:105408168G>A	ENST00000333244.5	-	7	13739	c.13620C>T	c.(13618-13620)gcC>gcT	p.A4540A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4540						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTTTGAGGCCGGCTACCTCGG	0.632																																						uc010axc.1		NaN																	0				ovary(1)	1						c.(13618-13620)GCC>GCT		AHNAK nucleoprotein 2							118.0	128.0	125.0					14																	105408168		1892	4103	5995	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105408168G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.13620C>T	14.37:g.105408168G>A						AHNAK2_uc001ypx.2_Silent_p.A4440A	p.A4540A	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	13740	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4540					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.13620C>T	CCDS45177.1																																																																																				0.632	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1		NM_138420		53	174	0	0	0	0.00361	0	53	174		
APBA2	321	broad.mit.edu	37	15	29346684	29346684	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr15:29346684G>A	ENST00000558402.1	+	5	1196	c.597G>A	c.(595-597)gaG>gaA	p.E199E	APBA2_ENST00000558259.1_Silent_p.E199E|APBA2_ENST00000558330.1_Silent_p.E199E|APBA2_ENST00000561069.1_Silent_p.E199E|APBA2_ENST00000411764.1_Silent_p.E199E			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	199	STXBP1-binding.			DEPSVLEAHDQEEDGHYCASKEGYQDYYPEEANGNTGASPY RLRR -> MSPPSLRPMTRKKMVTMCQQRGLPGLLPRGGQR EHRRLPLPPEA (in Ref. 1; AAC39767). {ECO:0000305}.	in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		ACTACCCCGAGGAGGCCAACG	0.627																																						uc001zck.2		NaN																	0					0						c.(595-597)GAG>GAA		amyloid beta A4 precursor protein-binding,							47.0	39.0	42.0					15																	29346684		2203	4300	6503	SO:0001819	synonymous_variant	321				nervous system development|protein transport		protein binding	g.chr15:29346684G>A	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.597G>A	15.37:g.29346684G>A						APBA2_uc010azj.2_Silent_p.E199E|APBA2_uc010uat.1_Silent_p.E199E|APBA2_uc001zcl.2_Silent_p.E199E|APBA2_uc010uas.1_Silent_p.E199E	p.E199E	NM_005503	NP_005494	Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	3	804	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	199	DEPSVLEAHDQEEDGHYCASKEGYQDYYPEEANGNTGASPY RLRR -> MSPPSLRPMTRKKMVTMCQQRGLPGLLPRGGQR EHRRLPLPPEA (in Ref. 1; AAC39767).		STXBP1-binding.		E9PGI4|O60571|Q5XKC0	Silent	SNP	ENST00000558402.1	37	c.597G>A	CCDS10022.1																																																																																				0.627	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3		NM_005503		6	23	0	0	0	0.001168	0	6	23		
CASC5	57082	broad.mit.edu	37	15	40916744	40916744	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr15:40916744G>C	ENST00000346991.5	+	11	4750	c.4360G>C	c.(4360-4362)Gat>Cat	p.D1454H	CASC5_ENST00000399668.2_Missense_Mutation_p.D1428H			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1454					acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GCTTCCAAAGGATCAAATGAA	0.358																																						uc010bbs.1		NaN																	0				breast(3)|central_nervous_system(1)|skin(1)	5						c.(4360-4362)GAT>CAT		cancer susceptibility candidate 5 isoform 1							113.0	107.0	109.0					15																	40916744		1854	4101	5955	SO:0001583	missense	57082				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	g.chr15:40916744G>C	AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.4360G>C	15.37:g.40916744G>C	ENSP00000335463:p.Asp1454His					CASC5_uc010ucq.1_Missense_Mutation_p.D1278H|CASC5_uc001zme.2_Missense_Mutation_p.D1428H|CASC5_uc010bbt.1_Missense_Mutation_p.D1428H	p.D1454H	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)	11	4521	+		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	1454					Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	c.4360G>C	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	G	7.196	0.592534	0.13875	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	T;T	0.05925	3.37;3.37	5.12	2.01	0.26516	.	0.273640	0.26220	N	0.025634	T	0.05364	0.0142	L	0.34521	1.04	0.09310	N	1	B;B;B	0.14012	0.009;0.009;0.009	B;B;B	0.16722	0.016;0.016;0.016	T	0.31916	-0.9926	10	0.87932	D	0	.	7.2311	0.26043	0.1595:0.38:0.4605:0.0	.	1428;1454;1428	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	H	1454;1428;1428	ENSP00000335463:D1454H;ENSP00000382576:D1428H	ENSP00000260369:D1428H	D	+	1	0	CASC5	38704036	0.000000	0.05858	0.290000	0.24890	0.189000	0.23516	0.070000	0.14573	0.662000	0.31006	0.603000	0.83216	GAT		0.358	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2		NM_144508		7	144	0	0	0	0.004482	0	7	144		
RAD51	5888	broad.mit.edu	37	15	41020994	41020994	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr15:41020994C>G	ENST00000267868.3	+	7	884	c.616C>G	c.(616-618)Caa>Gaa	p.Q206E	RAD51_ENST00000382643.3_Missense_Mutation_p.Q207E|RAD51_ENST00000532743.1_Missense_Mutation_p.Q207E|RAD51_ENST00000423169.2_Missense_Mutation_p.Q206E|RAD51_ENST00000557850.1_Missense_Mutation_p.Q109E	NM_002875.4	NP_002866.2	Q06609	RAD51_HUMAN	RAD51 recombinase	206	Interaction with PALB2.				ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA unwinding involved in DNA replication (GO:0006268)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|mitotic recombination (GO:0006312)|positive regulation of DNA ligation (GO:0051106)|protein homooligomerization (GO:0051260)|reciprocal meiotic recombination (GO:0007131)|regulation of double-strand break repair via homologous recombination (GO:0010569)	condensed chromosome (GO:0000793)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|lateral element (GO:0000800)|mitochondrion (GO:0005739)|nuclear chromosome (GO:0000228)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|PML body (GO:0016605)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA polymerase binding (GO:0070182)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|single-stranded DNA binding (GO:0003697)|single-stranded DNA-dependent ATPase activity (GO:0043142)			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)		GCTCCTTTATCAAGCATCAGC	0.443								Homologous recombination																														uc001zmi.3		NaN																	0					0						c.(616-618)CAA>GAA	Homologous_recombination	RAD51 homolog protein isoform 1							201.0	185.0	190.0					15																	41020994		2203	4300	6503	SO:0001583	missense	5888				DNA recombinase assembly|DNA unwinding involved in replication|mitotic recombination|positive regulation of DNA ligation|protein homooligomerization|reciprocal meiotic recombination	mitochondrial matrix|nucleus|perinuclear region of cytoplasm|PML body	ATP binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|protein C-terminus binding|single-stranded DNA binding|single-stranded DNA-dependent ATPase activity	g.chr15:41020994C>G	D13804	CCDS10062.1, CCDS53931.1, CCDS53932.1	15q15.1	2014-06-12	2013-07-02		ENSG00000051180	ENSG00000051180			9817	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 5"""	179617	"""RAD51 (S. cerevisiae) homolog (E coli RecA homolog)"", ""RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)"", ""RAD51 homolog (S. cerevisiae)"""	RAD51A, RECA		8358431, 8479919	Standard	NM_002875		Approved	HsRad51, HsT16930, BRCC5	uc010bbx.3	Q06609	OTTHUMG00000130067	ENST00000267868.3:c.616C>G	15.37:g.41020994C>G	ENSP00000267868:p.Gln206Glu					RAD51_uc010bbw.2_Missense_Mutation_p.Q206E|RAD51_uc010bbx.2_Missense_Mutation_p.Q207E|RAD51_uc001zmk.3_RNA|RAD51_uc001zml.3_Missense_Mutation_p.Q207E	p.Q206E	NM_002875	NP_002866	Q06609	RAD51_HUMAN		GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)	7	915	+		all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	206			Interaction with PALB2.		B0FXP0|B2R8T6|Q6FHX9|Q6ZNA8|Q9BV60	Missense_Mutation	SNP	ENST00000267868.3	37	c.616C>G	CCDS10062.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.287174	0.59867	.	.	ENSG00000051180	ENST00000423169;ENST00000382642;ENST00000267868;ENST00000532743;ENST00000382643	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	5.67	5.67	0.87782	DNA recombination/repair protein RecA/RadB, ATP-binding domain (1);ATPase, AAA+ type, core (1);DNA recombination and repair protein Rad51, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.49423	0.1556	N	0.17800	0.525	0.80722	D	1	B;B;B	0.15719	0.014;0.003;0.001	B;B;B	0.15052	0.012;0.01;0.004	T	0.40942	-0.9536	10	0.16420	T	0.52	-12.5035	19.7528	0.96275	0.0:1.0:0.0:0.0	.	206;207;206	Q06609-3;Q6ZNA8;Q06609	.;.;RAD51_HUMAN	E	206;109;206;207;207	ENSP00000406602:Q206E;ENSP00000267868:Q206E;ENSP00000433924:Q207E;ENSP00000372088:Q207E	ENSP00000267868:Q206E	Q	+	1	0	RAD51	38808286	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.712000	0.84684	2.673000	0.90976	0.591000	0.81541	CAA		0.443	RAD51-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252358.1		NM_002875, NM_133487		34	199	0	0	0	0.004878	0	34	199		
MGA	23269	broad.mit.edu	37	15	42054514	42054514	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr15:42054514G>A	ENST00000570161.1	+	21	7698	c.7698G>A	c.(7696-7698)agG>agA	p.R2566R	MGA_ENST00000219905.7_Silent_p.R2566R|MGA_ENST00000566586.1_Silent_p.R2357R|MGA_ENST00000545763.1_Silent_p.R2357R|MGA_ENST00000389936.4_Silent_p.R2527R			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TAAATAACAGGAGGGGGAAAC	0.403																																						uc010ucy.1		NaN																	0				ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12						c.(7696-7698)AGG>AGA		MAX-interacting protein isoform 1							91.0	92.0	92.0					15																	42054514		1841	4075	5916	SO:0001819	synonymous_variant	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42054514G>A	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.7698G>A	15.37:g.42054514G>A						MGA_uc010ucz.1_Silent_p.R2357R|MGA_uc010uda.1_Silent_p.R1182R	p.R2566R	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	22	7879	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	2527					Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000570161.1	37	c.7698G>A	CCDS55959.1																																																																																				0.403	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1		NM_001164273.1		15	64	0	0	0	0.00245	0	15	64		
AQP9	366	broad.mit.edu	37	15	58465375	58465375	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr15:58465375G>A	ENST00000219919.4	+	3	717	c.347G>A	c.(346-348)gGg>gAg	p.G116E	ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000536493.1_Missense_Mutation_p.G116E|AQP9_ENST00000558772.1_Missense_Mutation_p.G51E	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	116					amine transport (GO:0015837)|canalicular bile acid transport (GO:0015722)|carboxylic acid transport (GO:0046942)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|glycerol transport (GO:0015793)|immune response (GO:0006955)|metabolic process (GO:0008152)|polyol transport (GO:0015791)|purine nucleobase transport (GO:0006863)|pyrimidine nucleobase transport (GO:0015855)|pyrimidine-containing compound transmembrane transport (GO:0072531)|response to mercury ion (GO:0046689)|response to organic substance (GO:0010033)|response to osmotic stress (GO:0006970)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water homeostasis (GO:0030104)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carboxylic acid transmembrane transporter activity (GO:0046943)|glycerol channel activity (GO:0015254)|polyol transmembrane transporter activity (GO:0015166)|porin activity (GO:0015288)|purine nucleobase transmembrane transporter activity (GO:0005345)|pyrimidine nucleobase transmembrane transporter activity (GO:0005350)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		GCCTTTGTGGGGGCTGCAACC	0.453																																						uc002aez.2		NaN																	0				ovary(1)	1						c.(346-348)GGG>GAG		aquaporin 9							152.0	156.0	155.0					15																	58465375		2192	4292	6484	SO:0001583	missense	366				cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity	g.chr15:58465375G>A	AF016495	CCDS10165.1	15q	2005-09-20			ENSG00000103569	ENSG00000103569		"""Ion channels / Aquaporins"""	643	protein-coding gene	gene with protein product		602914					Standard	NM_020980		Approved	SSC1, HsT17287	uc002aez.2	O43315	OTTHUMG00000132631	ENST00000219919.4:c.347G>A	15.37:g.58465375G>A	ENSP00000219919:p.Gly116Glu					ALDH1A2_uc010ugw.1_Intron|AQP9_uc010ugx.1_Missense_Mutation_p.G51E	p.G116E	NM_020980	NP_066190	O43315	AQP9_HUMAN		GBM - Glioblastoma multiforme(80;0.16)	3	704	+			116			Helical; (Potential).		Q9NP32	Missense_Mutation	SNP	ENST00000219919.4	37	c.347G>A	CCDS10165.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.630818	0.67015	.	.	ENSG00000103569	ENST00000219919;ENST00000536493	T;T	0.20881	2.04;2.04	5.13	5.13	0.70059	Aquaporin-like (2);	0.000000	0.85682	D	0.000000	T	0.64170	0.2574	H	0.97682	4.055	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.78303	-0.2256	10	0.87932	D	0	.	18.7717	0.91894	0.0:0.0:1.0:0.0	.	116	O43315	AQP9_HUMAN	E	116	ENSP00000219919:G116E;ENSP00000441390:G116E	ENSP00000219919:G116E	G	+	2	0	AQP9	56252667	1.000000	0.71417	0.422000	0.26621	0.265000	0.26407	5.107000	0.64603	2.665000	0.90641	0.561000	0.74099	GGG		0.453	AQP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255878.2		NM_020980		34	158	0	0	0	0.002836	0	34	158		
ZNF609	23060	broad.mit.edu	37	15	64968122	64968122	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr15:64968122G>A	ENST00000326648.3	+	4	3197	c.3069G>A	c.(3067-3069)aaG>aaA	p.K1023K		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	1023						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAGTGGACAAGAAGGCAGAGA	0.577																																						uc002ann.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(3067-3069)AAG>AAA		zinc finger protein 609							130.0	117.0	121.0					15																	64968122		2203	4299	6502	SO:0001819	synonymous_variant	23060					nucleus	zinc ion binding	g.chr15:64968122G>A	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.3069G>A	15.37:g.64968122G>A							p.K1023K	NM_015042	NP_055857	O15014	ZN609_HUMAN			4	3069	+			1023					Q0D2I2	Silent	SNP	ENST00000326648.3	37	c.3069G>A	CCDS32270.1																																																																																				0.577	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1		XM_042833		24	132	0	0	0	0.002299	0	24	132		
SCAPER	49855	broad.mit.edu	37	15	76995194	76995194	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr15:76995194G>A	ENST00000563290.1	-	19	2492	c.2397C>T	c.(2395-2397)gtC>gtT	p.V799V	SCAPER_ENST00000538941.2_Silent_p.V553V|SCAPER_ENST00000324767.7_Silent_p.V799V			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	799						endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						AACCTACCAGGACATTGCAGA	0.368																																						uc002bby.2		NaN																	0				large_intestine(1)|lung(1)|ovary(1)	3						c.(2395-2397)GTC>GTT		S-phase cyclin A-associated protein in the ER							107.0	105.0	105.0					15																	76995194		1854	4095	5949	SO:0001819	synonymous_variant	49855					endoplasmic reticulum|nucleus	zinc ion binding	g.chr15:76995194G>A	AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"""Zinc fingers, C2H2-type"""	13081	protein-coding gene	gene with protein product		611611	"""zinc finger protein 291"""	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.2397C>T	15.37:g.76995194G>A						SCAPER_uc010bkr.2_Silent_p.V107V|SCAPER_uc002bbx.2_Silent_p.V553V|SCAPER_uc002bbz.1_Silent_p.V670V|SCAPER_uc002bca.1_Silent_p.V664V|SCAPER_uc002bcb.1_Silent_p.V805V	p.V799V	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN			18	2456	-			798			C2H2-type.		F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Silent	SNP	ENST00000563290.1	37	c.2397C>T	CCDS53962.1																																																																																				0.368	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1		NM_020843		6	131	0	0	0	0.001168	0	6	131		
IREB2	3658	broad.mit.edu	37	15	78790483	78790483	+	Nonstop_Mutation	SNP	T	T	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr15:78790483T>C	ENST00000258886.8	+	22	3039	c.2890T>C	c.(2890-2892)Tag>Cag	p.*964Q		NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	0					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		AAAATTCTCATAGTATCTACT	0.388																																					NSCLC(200;764 2208 35157 49871 50830)	uc002bdr.2		NaN																	0					0						c.(2890-2892)TAG>CAG		iron-responsive element binding protein 2							115.0	105.0	108.0					15																	78790483		2196	4293	6489	SO:0001578	stop_lost	3658						4 iron, 4 sulfur cluster binding|metal ion binding|protein binding	g.chr15:78790483T>C	M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.2890T>C	15.37:g.78790483T>C	ENSP00000258886:p.*964Glnext*12					IREB2_uc010unb.1_Nonstop_Mutation_p.*714Q	p.*964Q	NM_004136	NP_004127	P48200	IREB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.232)	22	3052	+			964					A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Nonstop_Mutation	SNP	ENST00000258886.8	37	c.2890T>C	CCDS10302.1	.	.	.	.	.	.	.	.	.	.	T	18.63	3.664794	0.67700	.	.	ENSG00000136381	ENST00000258886	.	.	.	5.98	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9039	0.52699	0.0:0.0679:0.0:0.9321	.	.	.	.	Q	964	.	.	X	+	1	0	IREB2	76577538	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	3.084000	0.50143	1.080000	0.41073	0.482000	0.46254	TAG		0.388	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290109.3		NM_004136		10	66	0	0	0	0.006214	0	10	66		
NTRK3	4916	broad.mit.edu	37	15	88670429	88670429	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr15:88670429G>A	ENST00000360948.2	-	11	1418	c.1257C>T	c.(1255-1257)atC>atT	p.I419I	NTRK3_ENST00000357724.2_Silent_p.I411I|NTRK3_ENST00000558676.1_Silent_p.I411I|NTRK3_ENST00000317501.3_Silent_p.I419I|NTRK3_ENST00000542733.2_Silent_p.I321I|NTRK3_ENST00000557856.1_Silent_p.I411I|NTRK3_ENST00000394480.2_Silent_p.I419I|NTRK3_ENST00000355254.2_Silent_p.I419I|NTRK3_ENST00000558306.1_5'Flank|NTRK3_ENST00000540489.2_Silent_p.I419I	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	419					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGGTCACAGTGATAGGAGGTG	0.498			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																												uc002bme.1		NaN		Dom	yes		15	15q25	4916	T	"""neurotrophic tyrosine kinase, receptor, type 3"""			"""E, M"""	ETV6		congenital fibrosarcoma|Secretory breast 	ETV6/NTRK3(234)	0				soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281						c.(1255-1257)ATC>ATT		neurotrophic tyrosine kinase, receptor, type 3							133.0	113.0	120.0					15																	88670429		2201	4299	6500	SO:0001819	synonymous_variant	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88670429G>A	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.1257C>T	15.37:g.88670429G>A		TSP Lung(13;0.10)				NTRK3_uc002bmh.2_Silent_p.I411I|NTRK3_uc002bmf.1_Silent_p.I419I|NTRK3_uc010upl.1_Silent_p.I321I|NTRK3_uc010bnh.1_Silent_p.I411I|NTRK3_uc002bmg.2_Silent_p.I419I	p.I419I	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		11	1419	-			419			Extracellular (Potential).		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Silent	SNP	ENST00000360948.2	37	c.1257C>T	CCDS32322.1																																																																																				0.498	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding					4	28	0	0	0	0.001168	0	4	28		
TMEM8A	58986	broad.mit.edu	37	16	427570	427570	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr16:427570G>A	ENST00000431232.2	-	3	475	c.315C>T	c.(313-315)ggC>ggT	p.G105G	TMEM8A_ENST00000250930.3_5'UTR|TMEM8A_ENST00000476735.1_5'UTR	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	105					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						CCGGAGGGGCGCCGGAACGGA	0.711																																						uc002cgu.3		NaN																	0				central_nervous_system(2)|pancreas(1)	3						c.(313-315)GGC>GGT		transmembrane protein 8 (five membrane-spanning							15.0	15.0	15.0					16																	427570		2168	4260	6428	SO:0001819	synonymous_variant	58986				cell adhesion	integral to plasma membrane		g.chr16:427570G>A	AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"""transmembrane protein 6"", ""transmembrane protein 8 (five membrane-spanning domains)"""	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996	ENST00000431232.2:c.315C>T	16.37:g.427570G>A						TMEM8A_uc002cgv.3_5'UTR	p.G105G	NM_021259	NP_067082	Q9HCN3	TMM8A_HUMAN			3	444	-			105			Extracellular (Potential).		D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	Silent	SNP	ENST00000431232.2	37	c.315C>T	CCDS10407.1																																																																																				0.711	TMEM8A-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000109257.2		NM_021259		4	5	0	0	0	0.009096	0	4	5		
MMP2	4313	broad.mit.edu	37	16	55539318	55539318	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr16:55539318G>T	ENST00000219070.4	+	13	2456	c.1947G>T	c.(1945-1947)aaG>aaT	p.K649N	MMP2_ENST00000437642.2_Missense_Mutation_p.K599N|MMP2_ENST00000543485.1_Missense_Mutation_p.K573N|MMP2_ENST00000570308.1_Missense_Mutation_p.K573N	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	649	Required for inhibitor TIMP2 binding.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	AGAGCGTGAAGTTTGGAAGCA	0.552																																						uc002ehz.3		NaN																	0				large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11						c.(1945-1947)AAG>AAT		matrix metalloproteinase 2 isoform a	Marimastat(DB00786)|Sulindac(DB00605)						153.0	148.0	150.0					16																	55539318		2198	4300	6498	SO:0001583	missense	4313				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:55539318G>T		CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"""matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)"", ""matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"""	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.1947G>T	16.37:g.55539318G>T	ENSP00000219070:p.Lys649Asn					MMP2_uc010vhd.1_Missense_Mutation_p.K573N|MMP2_uc010ccc.2_Missense_Mutation_p.K599N|MMP2_uc002eia.3_Missense_Mutation_p.K146N	p.K649N	NM_004530	NP_004521	P08253	MMP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	13	2258	+		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)	649			Required for inhibitor TIMP2 binding.|Hemopexin-like 4.		B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Missense_Mutation	SNP	ENST00000219070.4	37	c.1947G>T	CCDS10752.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.449673	0.63178	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	T;T;T	0.02446	4.29;4.29;4.29	5.38	1.91	0.25777	Hemopexin/matrixin (2);	0.089585	0.85682	D	0.000000	T	0.09598	0.0236	M	0.62723	1.935	0.58432	D	0.999999	D;D	0.89917	0.994;1.0	D;D	0.91635	0.944;0.999	T	0.03202	-1.1061	10	0.52906	T	0.07	.	6.9887	0.24743	0.4319:0.0:0.5681:0.0	.	599;649	E9PE45;P08253	.;MMP2_HUMAN	N	649;573;599	ENSP00000219070:K649N;ENSP00000444143:K573N;ENSP00000394237:K599N	ENSP00000219070:K649N	K	+	3	2	MMP2	54096819	1.000000	0.71417	0.992000	0.48379	0.996000	0.88848	2.392000	0.44433	0.612000	0.30071	0.563000	0.77884	AAG		0.552	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3				21	165	1	0	3.5997e-14	0.002299	4.02753e-14	21	165		
ADAMTS18	170692	broad.mit.edu	37	16	77465452	77465452	+	Missense_Mutation	SNP	C	C	G	rs375929012		TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr16:77465452C>G	ENST00000282849.5	-	3	653	c.235G>C	c.(235-237)Gac>Cac	p.D79H	ADAMTS18_ENST00000567121.1_5'UTR|RP11-449J10.1_ENST00000564358.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	79					eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TGCAAAATGTCGTGTGAAATA	0.488																																						uc002ffc.3		NaN																	0				large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						c.(235-237)GAC>CAC		ADAM metallopeptidase with thrombospondin type 1							201.0	207.0	205.0					16																	77465452		2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77465452C>G	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.235G>C	16.37:g.77465452C>G	ENSP00000282849:p.Asp79His					ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_RNA	p.D79H	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN			3	654	-			79					Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.235G>C	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.121497	0.37436	.	.	ENSG00000140873	ENST00000282849;ENST00000449265	T;T	0.60548	0.18;2.74	5.66	3.72	0.42706	Peptidase M12B, propeptide (1);	0.053899	0.64402	D	0.000001	T	0.54791	0.1880	M	0.64170	1.965	0.45634	D	0.998567	B	0.28512	0.214	B	0.34722	0.188	T	0.53287	-0.8460	10	0.33141	T	0.24	.	10.2161	0.43168	0.0:0.7849:0.0:0.2151	.	79	Q8TE60	ATS18_HUMAN	H	79	ENSP00000282849:D79H;ENSP00000392540:D79H	ENSP00000282849:D79H	D	-	1	0	ADAMTS18	76022953	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.677000	0.37576	1.413000	0.46997	-0.225000	0.12378	GAC		0.488	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1				125	303	0	0	0	0.00361	0	125	303		
ATMIN	23300	broad.mit.edu	37	16	81077964	81077964	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr16:81077964G>C	ENST00000299575.4	+	4	1885	c.1861G>C	c.(1861-1863)Gac>Cac	p.D621H	ATMIN_ENST00000564241.1_Missense_Mutation_p.D465H|ATMIN_ENST00000566488.1_Missense_Mutation_p.D465H|ATMIN_ENST00000539819.1_3'UTR	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	621					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						TCCTGGACCTGACACCCAGCT	0.443																																						uc002ffz.1		NaN																	0					0						c.(1861-1863)GAC>CAC		ATM interactor							37.0	37.0	37.0					16																	81077964		2202	4300	6502	SO:0001583	missense	23300				response to DNA damage stimulus	nucleus	zinc ion binding	g.chr16:81077964G>C	BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"""Zinc fingers, C2H2-type"""	29034	protein-coding gene	gene with protein product	"""ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein"", ""ATM INteracting protein"""	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.1861G>C	16.37:g.81077964G>C	ENSP00000299575:p.Asp621His					ATMIN_uc002fga.2_Missense_Mutation_p.D463H|ATMIN_uc010vnn.1_Missense_Mutation_p.D392H|ATMIN_uc002fgb.1_Missense_Mutation_p.D463H	p.D621H	NM_015251	NP_056066	O43313	ATMIN_HUMAN			4	1879	+			621					A8K4H8|Q68DC9	Missense_Mutation	SNP	ENST00000299575.4	37	c.1861G>C	CCDS32494.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.632526	0.67015	.	.	ENSG00000166454	ENST00000299575;ENST00000539819	T	0.37411	1.2	6.17	6.17	0.99709	.	0.102343	0.64402	D	0.000003	T	0.55878	0.1948	M	0.72118	2.19	0.39786	D	0.972366	D	0.76494	0.999	P	0.59703	0.862	T	0.59101	-0.7517	10	0.87932	D	0	-33.0979	14.9567	0.71120	0.0674:0.0:0.9326:0.0	.	621	O43313	ATMIN_HUMAN	H	621;392	ENSP00000299575:D621H	ENSP00000299575:D621H	D	+	1	0	ATMIN	79635465	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.291000	0.65667	2.941000	0.99782	0.655000	0.94253	GAC		0.443	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432140.1		NM_015251		4	59	0	0	0	0.001168	0	4	59		
TRPV3	162514	broad.mit.edu	37	17	3438937	3438937	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:3438937G>A	ENST00000576742.1	-	7	1035	c.714C>T	c.(712-714)ggC>ggT	p.G238G	TRPV3_ENST00000572519.1_Silent_p.G238G|TRPV3_ENST00000301365.4_Silent_p.G238G	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	238					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	TGACGTCGGCGCCGGCGGCGA	0.721																																						uc002fvt.1		NaN																	0				ovary(4)	4						c.(712-714)GGC>GGT		transient receptor potential cation channel,	Menthol(DB00825)						25.0	24.0	25.0					17																	3438937		2201	4295	6496	SO:0001819	synonymous_variant	162514					integral to membrane	calcium channel activity	g.chr17:3438937G>A	AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.714C>T	17.37:g.3438937G>A						TRPV3_uc002fvs.1_RNA|TRPV3_uc010vrh.1_Silent_p.G222G|TRPV3_uc010vri.1_Silent_p.G193G|TRPV3_uc010vrj.1_Silent_p.G222G|TRPV3_uc010vrk.1_RNA|TRPV3_uc010vrl.1_Silent_p.G222G|TRPV3_uc010vrm.1_RNA|TRPV3_uc002fvr.2_Silent_p.G238G|TRPV3_uc002fvu.2_Silent_p.G238G	p.G238G	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN			7	1036	-			238			Cytoplasmic (Potential).|ANK 1.		Q8NDW7|Q8NET9|Q8NFH2	Silent	SNP	ENST00000576742.1	37	c.714C>T	CCDS11029.1																																																																																				0.721	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207379.2		NM_145068		5	21	0	0	0	0.001168	0	5	21		
KIAA0100	9703	broad.mit.edu	37	17	26962026	26962026	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:26962026G>A	ENST00000528896.2	-	16	2653	c.2579C>T	c.(2578-2580)tCt>tTt	p.S860F	KIAA0100_ENST00000544884.1_Missense_Mutation_p.S717F|RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.S717F|RP11-192H23.7_ENST00000583787.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	860						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AGGGCTTGGAGAGGCCCAAGC	0.468																																						uc002hbu.2		NaN																	0				ovary(2)|breast(1)|skin(1)	4						c.(2578-2580)TCT>TTT		hypothetical protein LOC9703 precursor							146.0	161.0	156.0					17																	26962026		2203	4300	6503	SO:0001583	missense	9703					extracellular region		g.chr17:26962026G>A	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.2579C>T	17.37:g.26962026G>A	ENSP00000436773:p.Ser860Phe						p.S860F	NM_014680	NP_055495	Q14667	K0100_HUMAN			16	2678	-	Lung NSC(42;0.00431)		860					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.2579C>T	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.576915	0.00887	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.23552	1.91;1.9	5.89	4.9	0.64082	.	0.590743	0.19247	N	0.119029	T	0.16041	0.0386	N	0.24115	0.695	0.09310	N	1	B	0.29716	0.255	B	0.24269	0.052	T	0.15407	-1.0438	10	0.29301	T	0.29	.	10.2885	0.43581	0.1653:0.0:0.8347:0.0	.	860	Q14667	K0100_HUMAN	F	860;830;860;717	ENSP00000436773:S860F;ENSP00000446443:S717F	ENSP00000005905:S860F	S	-	2	0	KIAA0100	23986153	0.101000	0.21875	0.027000	0.17364	0.007000	0.05969	2.452000	0.44961	1.431000	0.47355	0.557000	0.71058	TCT		0.468	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3		NM_014680		127	289	0	0	0	0.00361	0	127	289		
NF1	4763	broad.mit.edu	37	17	29554622	29554622	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:29554622C>G	ENST00000358273.4	+	20	2790	c.2407C>G	c.(2407-2409)Cag>Gag	p.Q803E	NF1_ENST00000356175.3_Missense_Mutation_p.Q803E	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	803					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GGAAGATGGCCAGGTAAGTCT	0.353			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.2		NaN	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		12	Whole gene deletion(8)|Unknown(4)	p.?(2)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330						c.(2407-2409)CAG>GAG		neurofibromin isoform 1							78.0	67.0	71.0					17																	29554622		2203	4300	6503	SO:0001583	missense	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29554622C>G		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.2407C>G	17.37:g.29554622C>G	ENSP00000351015:p.Gln803Glu	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Missense_Mutation_p.Q803E|NF1_uc010csn.1_Missense_Mutation_p.Q663E|NF1_uc002hgi.1_5'UTR	p.Q803E	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	20	2740	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	803					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.2407C>G	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	.	16.30	3.085490	0.55861	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.09073	3.18;3.33;3.02	4.83	4.83	0.62350	Armadillo-type fold (1);	0.162302	0.42821	D	0.000649	T	0.20495	0.0493	M	0.64404	1.975	0.80722	D	1	D;P;B	0.65815	0.995;0.811;0.369	P;P;B	0.54924	0.718;0.764;0.088	T	0.01225	-1.1413	10	0.30854	T	0.27	.	18.273	0.90074	0.0:1.0:0.0:0.0	.	803;803;803	E1P657;P21359-2;P21359	.;.;NF1_HUMAN	E	803;803;469	ENSP00000351015:Q803E;ENSP00000348498:Q803E;ENSP00000389907:Q469E	ENSP00000348498:Q803E	Q	+	1	0	NF1	26578748	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.323000	0.79105	2.392000	0.81423	0.650000	0.86243	CAG		0.353	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2		NM_000267		6	107	0	0	0	0.001168	0	6	107		
NF1	4763	broad.mit.edu	37	17	29664524	29664524	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:29664524C>G	ENST00000358273.4	+	43	6949	c.6566C>G	c.(6565-6567)cCt>cGt	p.P2189R	NF1_ENST00000444181.2_5'Flank|NF1_ENST00000356175.3_Missense_Mutation_p.P2168R|NF1_ENST00000417592.2_5'Flank	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2189					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCATTCTCTCCTGGCTCCTAT	0.433			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.2		NaN	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		11	Whole gene deletion(8)|Unknown(3)		soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330						c.(6565-6567)CCT>CGT		neurofibromin isoform 1							137.0	127.0	130.0					17																	29664524		2203	4300	6503	SO:0001583	missense	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29664524C>G		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.6566C>G	17.37:g.29664524C>G	ENSP00000351015:p.Pro2189Arg	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Missense_Mutation_p.P2168R|NF1_uc010cso.2_Missense_Mutation_p.P377R|NF1_uc010wbt.1_5'Flank|NF1_uc010wbu.1_5'Flank	p.P2189R	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	43	6899	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	2189					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.6566C>G	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.203560	0.79127	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.09723	3.11;3.26;2.95	5.45	5.45	0.79879	Armadillo-type fold (2);	0.000000	0.85682	D	0.000000	T	0.22975	0.0555	N	0.24115	0.695	0.80722	D	1	D;P	0.76494	0.999;0.901	D;P	0.83275	0.996;0.482	T	0.01977	-1.1236	10	0.51188	T	0.08	.	19.6482	0.95790	0.0:1.0:0.0:0.0	.	2168;2189	P21359-2;P21359	.;NF1_HUMAN	R	2189;2168;1834	ENSP00000351015:P2189R;ENSP00000348498:P2168R;ENSP00000389907:P1834R	ENSP00000348498:P2168R	P	+	2	0	NF1	26688650	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.334000	0.79224	2.696000	0.92011	0.655000	0.94253	CCT		0.433	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2		NM_000267		17	197	0	0	0	0.00499	0	17	197		
TAF15	8148	broad.mit.edu	37	17	34149829	34149829	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:34149829A>G	ENST00000588240.1	+	6	591	c.476A>G	c.(475-477)cAc>cGc	p.H159R	AC015849.19_ENST00000588415.1_RNA|AC015849.13_ENST00000589356.1_RNA|TAF15_ENST00000311979.3_Missense_Mutation_p.H156R|TAF15_ENST00000592237.1_Missense_Mutation_p.H68R	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q16514	TAF12_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TACAGCCACCACACACAAGGT	0.378			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""																																	uc002hkd.2		NaN		Dom	yes		17	17q11.1-q11.2	8148	T	"""TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa"""			"""L, M"""	TEC|CHN1|ZNF384		extraskeletal myxoid chondrosarcomas|ALL	TAF15/NR4A3(33)	0				bone(33)|lung(1)|skin(1)	35						c.(475-477)CAC>CGC		TBP-associated factor 15 isoform 1							106.0	99.0	101.0					17																	34149829		2203	4300	6503	SO:0001583	missense	8148				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr17:34149829A>G	U51334	CCDS32623.1, CCDS59279.1	17q11.1-q11.2	2013-02-12	2002-08-29	2001-12-07		ENSG00000270647		"""RNA binding motif (RRM) containing"""	11547	protein-coding gene	gene with protein product		601574	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)"""	TAF2N		8954779, 9795213	Standard	NM_003487		Approved	hTAFII68, RBP56, Npl3	uc002hkd.4	Q92804		ENST00000588240.1:c.476A>G	17.37:g.34149829A>G	ENSP00000466950:p.His159Arg					TAF15_uc010ctw.1_RNA|TAF15_uc002hkc.2_Missense_Mutation_p.H156R	p.H159R	NM_139215	NP_631961	Q92804	RBP56_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	6	562	+		Ovarian(249;0.17)	159			Gln/Gly/Ser/Tyr-rich.		D3DPM5|Q15775|Q5T077	Missense_Mutation	SNP	ENST00000588240.1	37	c.476A>G	CCDS32623.1	.	.	.	.	.	.	.	.	.	.	A	14.29	2.492124	0.44352	.	.	ENSG00000172660	ENST00000311979	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	T	0.40322	0.1112	L	0.47716	1.5	0.28059	N	0.933064	P;P	0.46512	0.808;0.879	B;B	0.42827	0.225;0.399	T	0.37776	-0.9691	8	0.38643	T	0.18	-9.2222	12.7432	0.57266	1.0:0.0:0.0:0.0	.	159;156	Q92804;Q92804-2	RBP56_HUMAN;.	R	159	.	ENSP00000309558:H159R	H	+	2	0	TAF15	31173942	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.473000	0.66774	2.252000	0.74401	0.533000	0.62120	CAC		0.378	TAF15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449134.1		NM_139215		12	160	0	0	0	0.00245	0	12	160		
ACACA	31	broad.mit.edu	37	17	35486362	35486362	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:35486362C>G	ENST00000394406.2	-	47	5952	c.5762G>C	c.(5761-5763)aGa>aCa	p.R1921T	ACACA_ENST00000353139.5_Missense_Mutation_p.R1958T|ACACA_ENST00000335166.5_Missense_Mutation_p.R1843T|ACACA_ENST00000360679.3_Missense_Mutation_p.R1863T|ACACA_ENST00000361253.5_Missense_Mutation_p.R47T	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1921	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CTCGATGATTCTGTCTATAGG	0.478																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	uc002hnm.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(5761-5763)AGA>ACA		acetyl-Coenzyme A carboxylase alpha isoform 2	Biotin(DB00121)						141.0	122.0	128.0					17																	35486362		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35486362C>G	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.5762G>C	17.37:g.35486362C>G	ENSP00000377928:p.Arg1921Thr					ACACA_uc002hnk.2_Missense_Mutation_p.R1843T|ACACA_uc002hnl.2_Missense_Mutation_p.R1863T|ACACA_uc002hnn.2_Missense_Mutation_p.R1921T|ACACA_uc002hno.2_Missense_Mutation_p.R1958T|ACACA_uc010cuy.2_Missense_Mutation_p.R566T|ACACA_uc010wdc.1_Missense_Mutation_p.R47T	p.R1921T	NM_198836	NP_942133	Q13085	ACACA_HUMAN			47	5953	-		Breast(25;0.00157)|Ovarian(249;0.15)	1921			Carboxyltransferase.		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.5762G>C	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	C	33	5.252275	0.95336	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330;ENST00000361253	T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16	5.24	5.24	0.73138	Acetyl-coenzyme A carboxyltransferase, C-terminal (1);Carboxyl transferase (1);	0.000000	0.85682	D	0.000000	T	0.70509	0.3232	M	0.92555	3.32	0.80722	D	1	D;D;D;D	0.89917	0.969;1.0;1.0;1.0	D;D;D;D	0.97110	0.936;1.0;1.0;1.0	T	0.79065	-0.1956	10	0.87932	D	0	-4.2452	18.8136	0.92068	0.0:1.0:0.0:0.0	.	620;1958;1921;1863	F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;ACACA_HUMAN;.	T	1958;1863;1921;1945;1843;620;47	ENSP00000344789:R1958T;ENSP00000353898:R1863T;ENSP00000377928:R1921T;ENSP00000335323:R1843T;ENSP00000354565:R47T	ENSP00000335323:R1843T	R	-	2	0	ACACA	32560475	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.625000	0.83145	2.443000	0.82685	0.591000	0.81541	AGA		0.478	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1		NM_198836		7	67	0	0	0	0.001984	0	7	67		
MLLT6	4302	broad.mit.edu	37	17	36876912	36876912	+	Splice_Site	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:36876912C>G	ENST00000325718.7	+	16	2445	c.2354C>G	c.(2353-2355)gCc>gGc	p.A785G	CTB-58E17.9_ENST00000579499.1_RNA|MIR4726_ENST00000577947.1_RNA	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	785					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					CCTCCCACAGCCGGCAGCAGC	0.667			T	MLL	AL																																	uc002hqi.3		NaN		Dom	yes		17	17q21	4302	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)"""			L	MLL		AL		0				breast(3)|prostate(1)|lung(1)|skin(1)	6						c.(2353-2355)GCC>GGC		myeloid/lymphoid or mixed-lineage leukemia							42.0	44.0	43.0					17																	36876912		2202	4300	6502	SO:0001630	splice_region_variant	4302				regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding	g.chr17:36876912C>G		CCDS11327.1	17q21	2014-04-10	2001-11-28		ENSG00000108292	ENSG00000275023		"""Zinc fingers, PHD-type"""	7138	protein-coding gene	gene with protein product	"""Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6"", ""trithorax homolog"""	600328	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6"""			8058765	Standard	NM_005937		Approved	AF17, FLJ23480	uc002hqi.4	P55198	OTTHUMG00000188498	ENST00000325718.7:c.2354-1C>G	17.37:g.36876912C>G						MLLT6_uc002hqj.2_Missense_Mutation_p.A220G|MLLT6_uc002hqk.3_Missense_Mutation_p.A116G	p.A785G	NM_005937	NP_005928	P55198	AF17_HUMAN			16	2367	+	Breast(7;4.43e-21)		785					Q59F28|Q96IU3|Q9H5F6|Q9UF49	Missense_Mutation	SNP	ENST00000325718.7	37	c.2354C>G	CCDS11327.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.801971	0.70682	.	.	ENSG00000108292	ENST00000325718	T	0.47528	0.84	5.16	5.16	0.70880	.	0.420012	0.20141	N	0.098369	T	0.38558	0.1045	L	0.41824	1.3	0.39712	D	0.971343	B;B	0.15141	0.006;0.012	B;B	0.16722	0.016;0.005	T	0.19353	-1.0308	9	.	.	.	.	12.3196	0.54977	0.0:0.8297:0.1703:0.0	.	239;785	Q96I32;P55198	.;AF17_HUMAN	G	785	ENSP00000316426:A785G	.	A	+	2	0	MLLT6	34130438	0.892000	0.30473	0.948000	0.38648	0.511000	0.34104	1.497000	0.35649	2.545000	0.85829	0.655000	0.94253	GCC		0.667	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256799.1		NM_005937	Missense_Mutation	7	111	0	0	0	0.00308	0	7	111		
CCR7	1236	broad.mit.edu	37	17	38711197	38711197	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:38711197A>G	ENST00000246657.2	-	3	996	c.934T>C	c.(934-936)Tac>Cac	p.Y312H	CCR7_ENST00000579344.1_Missense_Mutation_p.Y306H	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	312					activation of Rho GTPase activity (GO:0032862)|cellular response to cytokine stimulus (GO:0071345)|chemokine (C-C motif) ligand 19 signaling pathway (GO:0038115)|chemokine (C-C motif) ligand 21 signaling pathway (GO:0038116)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|establishment of T cell polarity (GO:0001768)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-12 secretion (GO:0072610)|lymphocyte migration into lymph node (GO:0097022)|mature dendritic cell differentiation (GO:0097029)|myeloid dendritic cell chemotaxis (GO:0002408)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative thymic T cell selection (GO:0045060)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell motility (GO:2000147)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glycoprotein biosynthetic process involved in immunological synapse formation (GO:2000526)|positive regulation of humoral immune response (GO:0002922)|positive regulation of hypersensitivity (GO:0002885)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immunological synapse formation (GO:2000522)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of T cell costimulation (GO:2000525)|positive regulation of T cell receptor signaling pathway (GO:0050862)|regulation of dendritic cell dendrite assembly (GO:2000547)|regulation of interferon-gamma production (GO:0032649)|regulation of interleukin-1 beta secretion (GO:0050706)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to nitric oxide (GO:0071731)|response to prostaglandin E (GO:0034695)|ruffle organization (GO:0031529)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-C motif chemokine 19 receptor activity (GO:0038117)|C-C motif chemokine 21 receptor activity (GO:0038121)|chemokine (C-C motif) ligand 19 binding (GO:0035757)|chemokine (C-C motif) ligand 21 binding (GO:0035758)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				GCCAGGCTGTAGGTGACGTCG	0.567																																						uc002huw.2		NaN																	0				breast(1)	1						c.(934-936)TAC>CAC		chemokine (C-C motif) receptor 7 precursor							209.0	166.0	180.0					17																	38711197		2203	4300	6503	SO:0001583	missense	1236				cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding	g.chr17:38711197A>G		CCDS11369.1	17q12-q21.2	2012-08-08			ENSG00000126353	ENSG00000126353		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1608	protein-coding gene	gene with protein product		600242		CMKBR7, EBI1		8383238	Standard	NM_001838		Approved	BLR2, CDw197, CD197	uc002huw.3	P32248	OTTHUMG00000133375	ENST00000246657.2:c.934T>C	17.37:g.38711197A>G	ENSP00000246657:p.Tyr312His						p.Y312H	NM_001838	NP_001829	P32248	CCR7_HUMAN			3	997	-		Breast(137;0.000496)	312			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000246657.2	37	c.934T>C	CCDS11369.1	.	.	.	.	.	.	.	.	.	.	A	16.22	3.061012	0.55432	.	.	ENSG00000126353	ENST00000246657	T	0.20463	2.07	5.73	5.73	0.89815	GPCR, rhodopsin-like superfamily (1);	0.279472	0.36066	N	0.002813	T	0.30230	0.0758	N	0.16368	0.405	0.42892	D	0.994202	D	0.57257	0.979	D	0.64506	0.926	T	0.14144	-1.0483	10	0.59425	D	0.04	.	16.0068	0.80367	1.0:0.0:0.0:0.0	.	312	P32248	CCR7_HUMAN	H	312	ENSP00000246657:Y312H	ENSP00000246657:Y312H	Y	-	1	0	CCR7	35964723	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	5.082000	0.64450	2.186000	0.69663	0.454000	0.30748	TAC		0.567	CCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257222.1				13	122	0	0	0	0.00245	0	13	122		
SMARCE1	6605	broad.mit.edu	37	17	38788611	38788611	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:38788611C>T	ENST00000348513.6	-	8	1330	c.550G>A	c.(550-552)Gat>Aat	p.D184N	SMARCE1_ENST00000431889.2_Missense_Mutation_p.D166N|SMARCE1_ENST00000580419.1_Missense_Mutation_p.D149N|SMARCE1_ENST00000578044.1_Missense_Mutation_p.D114N|SMARCE1_ENST00000400122.3_Missense_Mutation_p.D114N|KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000377808.4_Missense_Mutation_p.D149N|SMARCE1_ENST00000544009.1_Missense_Mutation_p.D114N	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	184					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|metabolic process (GO:0008152)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|N-acetyltransferase activity (GO:0008080)|protein N-terminus binding (GO:0047485)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)			large_intestine(1)	1		Breast(137;0.000812)				GAAAAGCCATCATCATAATCT	0.433																																						uc002hux.2		NaN																	0					0						c.(550-552)GAT>AAT		SWI/SNF-related matrix-associated							60.0	60.0	60.0					17																	38788611		2203	4300	6503	SO:0001583	missense	6605				chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity	g.chr17:38788611C>T	AF035262	CCDS11370.1	17q21.2	2006-09-20			ENSG00000073584	ENSG00000073584			11109	protein-coding gene	gene with protein product		603111				9435219	Standard	NM_003079		Approved	BAF57	uc002hux.2	Q969G3	OTTHUMG00000133367	ENST00000348513.6:c.550G>A	17.37:g.38788611C>T	ENSP00000323967:p.Asp184Asn					SMARCE1_uc010wff.1_Missense_Mutation_p.D149N|SMARCE1_uc010wfg.1_Missense_Mutation_p.D114N|SMARCE1_uc002huy.2_Missense_Mutation_p.D149N|SMARCE1_uc010wfh.1_Missense_Mutation_p.D114N|SMARCE1_uc010wfi.1_Missense_Mutation_p.D166N	p.D184N	NM_003079	NP_003070	Q969G3	SMCE1_HUMAN			8	674	-		Breast(137;0.000812)	184					B3KMC1|B4DFR4|C0IMW4|C0IMW5|C0IMW7|H7C3F6|O43539	Missense_Mutation	SNP	ENST00000348513.6	37	c.550G>A	CCDS11370.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.96|19.96	3.924183|3.924183	0.73213|0.73213	.|.	.|.	ENSG00000073584|ENSG00000073584	ENST00000348513;ENST00000544009;ENST00000431889;ENST00000377808|ENST00000400122	T;T;T|.	0.21543|.	2.0;2.02;2.33|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73521|0.73521	0.3597|0.3597	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	B;P;P|.	0.48764|.	0.002;0.493;0.915|.	B;B;B|.	0.41764|.	0.003;0.155;0.366|.	T|T	0.69658|0.69658	-0.5086|-0.5086	10|5	0.45353|.	T|.	0.12|.	.|.	19.8372|19.8372	0.96661|0.96661	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	149;149;184|.	C0IMW5;C0IMW4;Q969G3|.	.;.;SMCE1_HUMAN|.	N|I	184;114;166;149|9	ENSP00000323967:D184N;ENSP00000445370:D166N;ENSP00000367039:D149N|.	ENSP00000323967:D184N|.	D|M	-|-	1|3	0|0	SMARCE1|SMARCE1	36042137|36042137	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	7.476000|7.476000	0.81055|0.81055	2.770000|2.770000	0.95276|0.95276	0.655000|0.655000	0.94253|0.94253	GAT|ATG		0.433	SMARCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257203.1		NM_003079		35	67	0	0	0	0.004878	0	35	67		
TMEM99	147184	broad.mit.edu	37	17	38991162	38991162	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:38991162C>G	ENST00000301665.3	+	3	698	c.394C>G	c.(394-396)Cac>Gac	p.H132D		NM_001195386.1|NM_001195387.1|NM_145274.3	NP_001182315.1|NP_001182316.1|NP_660317.2	Q8N816	TMM99_HUMAN	transmembrane protein 99	132						integral component of membrane (GO:0016021)				cervix(1)|large_intestine(1)|lung(5)|skin(2)|urinary_tract(1)	10		Breast(137;0.000301)				TCAAGGGTCTCACGTTGCAGC	0.512																																						uc002hvj.1		NaN																	0				skin(1)	1						c.(394-396)CAC>GAC		transmembrane protein 99 precursor							142.0	140.0	141.0					17																	38991162		1971	4170	6141	SO:0001583	missense	147184					integral to membrane		g.chr17:38991162C>G	AK097454	CCDS42319.1	17q21.2	2008-11-06			ENSG00000167920	ENSG00000167920			28305	protein-coding gene	gene with protein product						12477932	Standard	NM_001195386		Approved	MGC21518	uc021txc.1	Q8N816	OTTHUMG00000133579	ENST00000301665.3:c.394C>G	17.37:g.38991162C>G	ENSP00000301665:p.His132Asp						p.H132D	NM_145274	NP_660317	Q8N816	TMM99_HUMAN			3	701	+		Breast(137;0.000301)	132					B4DQ34|Q96BP9	Missense_Mutation	SNP	ENST00000301665.3	37	c.394C>G	CCDS42319.1	.	.	.	.	.	.	.	.	.	.	C	2.111	-0.403754	0.04832	.	.	ENSG00000167920	ENST00000436612;ENST00000301665	T;T	0.27557	1.66;1.66	1.94	1.94	0.25998	.	.	.	.	.	T	0.15565	0.0375	N	0.08118	0	0.09310	N	1	B	0.20780	0.048	B	0.18871	0.023	T	0.17930	-1.0353	9	0.87932	D	0	.	7.3778	0.26839	0.0:1.0:0.0:0.0	.	132	Q8N816	TMM99_HUMAN	D	132	ENSP00000390036:H132D;ENSP00000301665:H132D	ENSP00000301665:H132D	H	+	1	0	TMEM99	36244688	0.006000	0.16342	0.005000	0.12908	0.014000	0.08584	1.109000	0.31135	1.402000	0.46780	0.591000	0.81541	CAC		0.512	TMEM99-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257681.1		NM_145274		16	269	0	0	0	0.003163	0	16	269		
KRTAP4-11	653240	broad.mit.edu	37	17	39274518	39274518	+	Missense_Mutation	SNP	C	C	T	rs9897031	byFrequency	TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:39274518C>T	ENST00000391413.2	-	1	88	c.50G>A	c.(49-51)cGa>cAa	p.R17Q		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	17	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].			R -> Q (in Ref. 1; CAC27583 and 3; AAI26132/AAI30563). {ECO:0000305}.		keratin filament (GO:0045095)				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGAGGTCTCGGCCACAGCC	0.592													t|||	3444	0.6877	0.9622	0.6686	5008	,	,		17251	0.4306		0.7137	False		,,,				2504	0.5685					uc002hvz.2		NaN																	0					0						c.(49-51)CGA>CAA		keratin associated protein 4-11		T	GLN/ARG	1290,94		606,78,8	33.0	36.0	35.0		50	-0.2	0.3	17	dbSNP_119	35	2296,886		819,658,114	no	missense	KRTAP4-11	NM_033059.3	43	1425,736,122	TT,TC,CC		27.8441,6.7919,21.463	benign	17/196	39274518	3586,980	692	1591	2283	SO:0001583	missense	653240					keratin filament		g.chr17:39274518C>T	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.50G>A	17.37:g.39274518C>T	ENSP00000375232:p.Arg17Gln						p.R17Q	NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	89	-		Breast(137;0.000496)	17	R -> Q (in Ref. 1; CAC27583 and 3; AAI26132/AAI30563).		27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.50G>A	CCDS45675.1	1511	0.6918498168498168	470	0.9552845528455285	251	0.6933701657458563	250	0.4370629370629371	540	0.712401055408971	.	0.008	-1.890787	0.00527	0.932081	0.721559	ENSG00000212721	ENST00000391413	T	0.00590	6.36	2.47	-0.215	0.13157	.	1.088530	0.07528	N	0.911716	T	0.00012	0.0000	N	0.00517	-1.405	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.14117	-1.0484	9	0.10111	T	0.7	.	2.9268	0.05787	0.0:0.3197:0.248:0.4323	rs9897031;rs62066328	17	Q9BYQ6	KR411_HUMAN	Q	17	ENSP00000375232:R17Q	ENSP00000375232:R17Q	R	-	2	0	KRTAP4-11	36528044	0.092000	0.21681	0.304000	0.25085	0.113000	0.19764	2.115000	0.41921	-0.140000	0.11394	-0.684000	0.03749	CGA		0.592	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1				5	69	0	0	0	0.001168	0	5	69		
CDC27	996	broad.mit.edu	37	17	45214642	45214642	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:45214642C>G	ENST00000066544.3	-	14	1882	c.1789G>C	c.(1789-1791)Gat>Cat	p.D597H	CDC27_ENST00000527547.1_Missense_Mutation_p.D596H|CDC27_ENST00000446365.2_Missense_Mutation_p.D536H|CDC27_ENST00000531206.1_Missense_Mutation_p.D603H	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	597					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TAATTTGGATCAACTTGGATA	0.393																																						uc002ild.3		NaN																	0				lung(2)|breast(2)|ovary(1)	5						c.(1789-1791)GAT>CAT		cell division cycle protein 27 isoform 2							54.0	56.0	55.0					17																	45214642		2203	4299	6502	SO:0001583	missense	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45214642C>G	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1789G>C	17.37:g.45214642C>G	ENSP00000066544:p.Asp597His					CDC27_uc002ile.3_Missense_Mutation_p.D603H|CDC27_uc002ilf.3_Missense_Mutation_p.D596H|CDC27_uc010wkp.1_Missense_Mutation_p.D536H|CDC27_uc010wkq.1_Intron	p.D597H	NM_001256	NP_001247	P30260	CDC27_HUMAN			14	1916	-			597			TPR 4.		G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	c.1789G>C	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	C	33	5.228090	0.95173	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547	T;T;T;T	0.69306	0.96;0.96;-0.39;0.96	5.81	5.81	0.92471	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.86276	0.5894	M	0.93375	3.41	0.80722	D	1	D;D;D;D	0.76494	0.999;0.997;0.999;0.995	D;D;D;D	0.70227	0.968;0.946;0.946;0.956	D	0.88606	0.3153	10	0.56958	D	0.05	-14.7206	17.5633	0.87913	0.0:1.0:0.0:0.0	.	536;596;603;597	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	H	597;603;536;596	ENSP00000066544:D597H;ENSP00000434614:D603H;ENSP00000392802:D536H;ENSP00000437339:D596H	ENSP00000066544:D597H	D	-	1	0	CDC27	42569641	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.761000	0.94854	0.585000	0.79938	GAT		0.393	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2				7	64	0	0	0	0.00308	0	7	64		
USP32	84669	broad.mit.edu	37	17	58372085	58372085	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:58372085C>T	ENST00000300896.4	-	4	564	c.370G>A	c.(370-372)Gat>Aat	p.D124N	USP32_ENST00000393003.3_Missense_Mutation_p.D124N	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	124	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			ACTTTACCATCCACCACGTGG	0.338																																						uc002iyo.1		NaN																	0				lung(2)|breast(2)|large_intestine(1)	5						c.(370-372)GAT>AAT		ubiquitin specific protease 32							90.0	83.0	86.0					17																	58372085		2203	4300	6503	SO:0001583	missense	84669				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:58372085C>T	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.370G>A	17.37:g.58372085C>T	ENSP00000300896:p.Asp124Asn					USP32_uc010wov.1_Missense_Mutation_p.D124N	p.D124N	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		4	656	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		124			EF-hand 1.		Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	ENST00000300896.4	37	c.370G>A	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	C	33	5.231183	0.95207	.	.	ENSG00000170832	ENST00000300896;ENST00000393003	T;T	0.45276	0.9;0.9	5.6	5.6	0.85130	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.48840	0.1522	L	0.32530	0.975	0.80722	D	1	D;B	0.60575	0.988;0.158	P;B	0.54759	0.76;0.027	T	0.33394	-0.9870	10	0.36615	T	0.2	.	19.6075	0.95586	0.0:1.0:0.0:0.0	.	124;124	Q7Z5T3;Q8NFA0	.;UBP32_HUMAN	N	124	ENSP00000300896:D124N;ENSP00000376727:D124N	ENSP00000300896:D124N	D	-	1	0	USP32	55726867	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.589000	0.82641	2.642000	0.89623	0.591000	0.81541	GAT		0.338	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2		NM_032582		12	100	0	0	0	0.001368	0	12	100		
EFCAB3	146779	broad.mit.edu	37	17	60493466	60493466	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:60493466G>C	ENST00000305286.3	+	10	1171	c.1093G>C	c.(1093-1095)Gac>Cac	p.D365H	EFCAB3_ENST00000450662.2_Missense_Mutation_p.D417H	NM_173503.3	NP_775774.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	365							calcium ion binding (GO:0005509)			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			GATTGGGATGGACTCTAGAAA	0.398																																						uc002izu.1		NaN																	0				skin(1)	1						c.(1093-1095)GAC>CAC		EF-hand calcium binding domain 3 isoform b							115.0	116.0	115.0					17																	60493466		2203	4300	6503	SO:0001583	missense	146779						calcium ion binding	g.chr17:60493466G>C	AK098684	CCDS11632.1, CCDS45751.1	17q23.3	2013-01-10			ENSG00000172421	ENSG00000172421		"""EF-hand domain containing"""	26379	protein-coding gene	gene with protein product						12477932	Standard	NM_173503		Approved	FLJ25818	uc010wpc.2	Q8N7B9	OTTHUMG00000179175	ENST00000305286.3:c.1093G>C	17.37:g.60493466G>C	ENSP00000302649:p.Asp365His					EFCAB3_uc010wpc.1_Missense_Mutation_p.D417H	p.D365H	NM_173503	NP_775774	Q8N7B9	EFCB3_HUMAN	BRCA - Breast invasive adenocarcinoma(2;2.27e-11)		10	1171	+			365					J3KQM8	Missense_Mutation	SNP	ENST00000305286.3	37	c.1093G>C	CCDS11632.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.203070	0.38905	.	.	ENSG00000172421	ENST00000450662;ENST00000305286	T;T	0.61040	0.14;0.18	4.94	4.94	0.65067	.	0.935798	0.09086	N	0.850604	T	0.59169	0.2174	L	0.57536	1.79	0.09310	N	0.999998	P	0.41041	0.736	B	0.41988	0.372	T	0.55341	-0.8156	10	0.72032	D	0.01	.	11.7022	0.51577	0.0:0.1783:0.8217:0.0	.	365	Q8N7B9	EFCB3_HUMAN	H	417;365	ENSP00000403932:D417H;ENSP00000302649:D365H	ENSP00000302649:D365H	D	+	1	0	EFCAB3	57847198	0.988000	0.35896	0.161000	0.22692	0.455000	0.32408	3.427000	0.52785	2.730000	0.93505	0.555000	0.69702	GAC		0.398	EFCAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379114.1		NM_173503		17	120	0	0	0	0.006122	0	17	120		
RECQL5	9400	broad.mit.edu	37	17	73625043	73625043	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:73625043C>A	ENST00000317905.5	-	16	2619	c.2460G>T	c.(2458-2460)caG>caT	p.Q820H	RECQL5_ENST00000443199.2_5'UTR|RECQL5_ENST00000423245.2_Missense_Mutation_p.Q793H	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	820					chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			ACTCCTCAGTCTGGGGAGGGG	0.617								Other identified genes with known or suspected DNA repair function																														uc010dgl.2		NaN																	0				kidney(3)	3						c.(2458-2460)CAG>CAT	Other_identified_genes_with_known_or_suspected_DNA_repair_function	RecQ protein-like 5 isoform 1							48.0	49.0	49.0					17																	73625043		1954	4122	6076	SO:0001583	missense	9400				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	g.chr17:73625043C>A	AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"""RecQ protein 5"""	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.2460G>T	17.37:g.73625043C>A	ENSP00000317636:p.Gln820His					RECQL5_uc010dgk.2_Missense_Mutation_p.Q793H|RECQL5_uc002jot.3_5'Flank	p.Q820H	NM_004259	NP_004250	O94762	RECQ5_HUMAN	all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)		16	2616	-	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		820					Q9H0B1|Q9P1W7|Q9UNC8	Missense_Mutation	SNP	ENST00000317905.5	37	c.2460G>T	CCDS42380.1	.	.	.	.	.	.	.	.	.	.	C	9.840	1.190776	0.21954	.	.	ENSG00000108469	ENST00000443199;ENST00000423245;ENST00000317905	T	0.55413	0.52	4.63	2.56	0.30785	RecQ helicase-like 5 (1);	2.567660	0.01377	N	0.012774	T	0.52468	0.1736	L	0.54323	1.7	0.20403	N	0.999909	B;B	0.11235	0.004;0.003	B;B	0.12156	0.007;0.005	T	0.38090	-0.9677	10	0.52906	T	0.07	-3.7064	8.8911	0.35434	0.1471:0.5059:0.347:0.0	.	820;793	O94762;Q6P4G0	RECQ5_HUMAN;.	H	415;820;820	ENSP00000317636:Q820H	ENSP00000317636:Q820H	Q	-	3	2	RECQL5	71136638	0.017000	0.18338	0.056000	0.19401	0.132000	0.20833	1.117000	0.31234	0.528000	0.28580	0.655000	0.94253	CAG		0.617	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1		NM_004259		8	89	1	0	2.17888e-05	0.006214	2.27906e-05	8	89		
PGS1	9489	broad.mit.edu	37	17	76411074	76411074	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:76411074C>G	ENST00000262764.6	+	8	1543	c.1517C>G	c.(1516-1518)aCg>aGg	p.T506R	PGS1_ENST00000329897.7_Missense_Mutation_p.T371R|PGS1_ENST00000588281.1_3'UTR	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	506					cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			GCGATCGTGACGGAGAACCAG	0.632																																					Esophageal Squamous(45;182 1126 10685 43198)	uc002jvm.2		NaN																	0					0						c.(1516-1518)ACG>AGG		phosphatidylglycerophosphate synthase 1							52.0	55.0	54.0					17																	76411074		2056	4215	6271	SO:0001583	missense	9489				phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity	g.chr17:76411074C>G		CCDS42391.1	17q25.3	2006-02-09							30029	protein-coding gene	gene with protein product		614942				9880566	Standard	XR_243691		Approved	DKFZP762M186	uc002jvm.3	Q32NB8		ENST00000262764.6:c.1517C>G	17.37:g.76411074C>G	ENSP00000262764:p.Thr506Arg					PGS1_uc010wtt.1_RNA|PGS1_uc010dho.2_RNA|PGS1_uc002jvn.2_Missense_Mutation_p.T219R|PGS1_uc002jvo.2_RNA|PGS1_uc002jvp.1_Missense_Mutation_p.T219R	p.T506R	NM_024419	NP_077733	Q32NB8	PGPS1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)		8	1529	+			506					B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7	Missense_Mutation	SNP	ENST00000262764.6	37	c.1517C>G	CCDS42391.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.673969	0.67928	.	.	ENSG00000087157	ENST00000262764;ENST00000329897	.	.	.	4.52	4.52	0.55395	.	1.196580	0.05757	N	0.604217	D	0.86239	0.5885	M	0.88979	2.995	0.80722	D	1	D	0.76494	0.999	D	0.66196	0.942	T	0.80144	-0.1505	9	0.87932	D	0	-10.0095	17.458	0.87612	0.0:1.0:0.0:0.0	.	506	Q32NB8	PGPS1_HUMAN	R	506;371	.	ENSP00000262764:T506R	T	+	2	0	PGS1	73922669	1.000000	0.71417	0.936000	0.37596	0.460000	0.32559	7.204000	0.77872	2.337000	0.79520	0.561000	0.74099	ACG		0.632	PGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437301.1		NM_024419		9	70	0	0	0	0.006214	0	9	70		
ASXL3	80816	broad.mit.edu	37	18	31326430	31326430	+	Silent	SNP	A	A	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr18:31326430A>T	ENST00000269197.5	+	12	6618	c.6618A>T	c.(6616-6618)gcA>gcT	p.A2206A		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	2206					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GCAGCAATGCAGATGAATTGG	0.517																																						uc010dmg.1		NaN																	0				ovary(2)|pancreas(1)	3						c.(6616-6618)GCA>GCT		additional sex combs like 3							94.0	95.0	95.0					18																	31326430		1965	4171	6136	SO:0001819	synonymous_variant	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31326430A>T	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.6618A>T	18.37:g.31326430A>T						ASXL3_uc002kxq.2_Silent_p.A1913A	p.A2206A	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			12	6673	+			2206					Q6ZMX6|Q96MU3|Q9UFC5	Silent	SNP	ENST00000269197.5	37	c.6618A>T	CCDS45847.1																																																																																				0.517	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2				5	77	0	0	0	0.001168	0	5	77		
SYT4	6860	broad.mit.edu	37	18	40851688	40851688	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr18:40851688G>C	ENST00000255224.3	-	3	1327	c.959C>G	c.(958-960)tCc>tGc	p.S320C	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Missense_Mutation_p.S302C	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	320	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TGAAAGTCCGGACACATCAGA	0.423																																					NSCLC(85;81 1419 2855 22820 35912)	uc002law.2		NaN																	0				skin(5)	5						c.(958-960)TCC>TGC		synaptotagmin IV							124.0	117.0	120.0					18																	40851688		2203	4300	6503	SO:0001583	missense	6860					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	g.chr18:40851688G>C	BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"""Synaptotagmins"""	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.959C>G	18.37:g.40851688G>C	ENSP00000255224:p.Ser320Cys					SYT4_uc010dng.2_RNA|SYT4_uc010xcm.1_Missense_Mutation_p.S302C|SYT4_uc010dnh.2_Intron	p.S320C	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN			3	1328	-			320			C2 2.|Cytoplasmic (Potential).		B4DEU3|Q9P2K4	Missense_Mutation	SNP	ENST00000255224.3	37	c.959C>G	CCDS11922.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.035957	0.54896	.	.	ENSG00000132872	ENST00000255224;ENST00000442661	T	0.70869	-0.52	5.52	5.52	0.82312	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.162287	0.56097	D	0.000038	T	0.81192	0.4771	L	0.53561	1.675	0.54753	D	0.99998	D;D	0.76494	0.999;0.999	P;D	0.64042	0.87;0.921	T	0.81470	-0.0918	10	0.62326	D	0.03	.	19.8176	0.96576	0.0:0.0:1.0:0.0	.	302;320	B4DEU3;Q9H2B2	.;SYT4_HUMAN	C	320;125	ENSP00000255224:S320C	ENSP00000255224:S320C	S	-	2	0	SYT4	39105686	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.843000	0.62838	2.765000	0.95021	0.650000	0.86243	TCC		0.423	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255851.2		NM_020783		13	99	0	0	0	0.003163	0	13	99		
HMHA1	23526	broad.mit.edu	37	19	1080305	1080305	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:1080305G>A	ENST00000313093.2	+	14	1986	c.1755G>A	c.(1753-1755)gcG>gcA	p.A585A	HMHA1_ENST00000543365.1_Silent_p.A468A|HMHA1_ENST00000536472.1_Silent_p.A425A|HMHA1_ENST00000590214.1_Silent_p.A612A|HMHA1_ENST00000539243.2_Silent_p.A601A|HMHA1_ENST00000586866.1_Silent_p.A589A|HMHA1_ENST00000590577.1_Silent_p.A220A	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	585					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGATGTGGCGCGGCCGGAGG	0.677																																						uc002lqz.1		NaN																	0				lung(1)	1						c.(1753-1755)GCG>GCA		minor histocompatibility antigen HA-1							48.0	55.0	53.0					19																	1080305		2203	4297	6500	SO:0001819	synonymous_variant	23526				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding	g.chr19:1080305G>A	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"""Rho GTPase activating proteins"""	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.1755G>A	19.37:g.1080305G>A						HMHA1_uc010xgd.1_Silent_p.A601A|HMHA1_uc010xge.1_Silent_p.A425A|HMHA1_uc002lra.1_Silent_p.A425A|HMHA1_uc002lrb.1_Silent_p.A468A|HMHA1_uc002lrc.1_Silent_p.A220A|HMHA1_uc002lrd.1_5'Flank|HMHA1_uc010dsd.1_5'Flank	p.A585A	NM_012292	NP_036424	Q92619	HMHA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	14	1986	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	585					B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Silent	SNP	ENST00000313093.2	37	c.1755G>A	CCDS32863.1																																																																																				0.677	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1				29	111	0	0	0	0.007291	0	29	111		
REXO1	57455	broad.mit.edu	37	19	1817224	1817224	+	Silent	SNP	G	G	A	rs141798167		TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:1817224G>A	ENST00000170168.4	-	12	3289	c.3195C>T	c.(3193-3195)tgC>tgT	p.C1065C	CTB-31O20.3_ENST00000586259.1_RNA|MIR1909_ENST00000411312.1_RNA	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	1065	Exonuclease.					nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCACCATCTCGCAGTCCAGGG	0.647													.|||	1	0.000199681	0.0008	0.0	5008	,	,		15032	0.0		0.0	False		,,,				2504	0.0					uc002lua.3		NaN																	0					0						c.(3193-3195)TGC>TGT		transcription elongation factor B polypeptide 3		G		1,4405		0,1,2202	59.0	55.0	56.0		3195	0.7	1.0	19	dbSNP_134	56	2,8598		0,2,4298	no	coding-synonymous	REXO1	NM_020695.3		0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231		1065/1222	1817224	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	57455					nucleus	exonuclease activity|nucleic acid binding	g.chr19:1817224G>A	AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"""elongin A binding protein 1"""	609614	"""transcription elongation factor B polypeptide 3 binding protein 1"""	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.3195C>T	19.37:g.1817224G>A						REXO1_uc010dsq.2_Silent_p.C374C|REXO1_uc010xgs.1_Silent_p.C51C|MIR1909_hsa-mir-1909|MI0008330_5'Flank|REXO1_uc010dsp.1_RNA	p.C1065C	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	12	3290	-		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)	1065			Exonuclease.		Q9ULT2	Silent	SNP	ENST00000170168.4	37	c.3195C>T	CCDS32866.1																																																																																				0.647	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1		NM_020695		21	35	0	0	0	0.005443	0	21	35		
SLC39A3	29985	broad.mit.edu	37	19	2733469	2733469	+	Silent	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:2733469C>G	ENST00000269740.4	-	3	554	c.225G>C	c.(223-225)ctG>ctC	p.L75L	SLC39A3_ENST00000545664.1_Silent_p.L75L|AC006538.4_ENST00000586572.1_Intron	NM_144564.4	NP_653165.2	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter), member 3	75					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCGAGGCTCAGGACCTTCT	0.632																																						uc002lwg.2		NaN																	0					0						c.(223-225)CTG>CTC		solute carrier family 39 (zinc transporter),							39.0	38.0	38.0					19																	2733469		2202	4299	6501	SO:0001819	synonymous_variant	29985					integral to membrane|plasma membrane	zinc ion transmembrane transporter activity	g.chr19:2733469C>G	AF052125	CCDS12093.1, CCDS45909.1	19p13.3	2013-05-22			ENSG00000141873	ENSG00000141873		"""Solute carriers"""	17128	protein-coding gene	gene with protein product		612168				10681536	Standard	NM_144564		Approved	ZIP3	uc002lwg.3	Q9BRY0		ENST00000269740.4:c.225G>C	19.37:g.2733469C>G						SLC39A3_uc010xgy.1_Silent_p.L75L	p.L75L	NM_144564	NP_653165	Q9BRY0	S39A3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	479	-		Hepatocellular(1079;0.137)	75			Extracellular (Potential).		B3KMJ3|Q8WUG1	Silent	SNP	ENST00000269740.4	37	c.225G>C	CCDS12093.1																																																																																				0.632	SLC39A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451354.2				7	84	0	0	0	0.00308	0	7	84		
DOCK6	57572	broad.mit.edu	37	19	11313296	11313296	+	Silent	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:11313296C>T	ENST00000294618.7	-	42	5336	c.5325G>A	c.(5323-5325)tcG>tcA	p.S1775S	CTC-510F12.2_ENST00000588634.1_RNA|DOCK6_ENST00000319867.7_Silent_p.S1114S|DOCK6_ENST00000586702.1_5'UTR	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1775	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GCTTCGTGATCGATGGCTCCT	0.632																																						uc002mqs.3		NaN																	0				ovary(2)|skin(1)	3						c.(5323-5325)TCG>TCA		dedicator of cytokinesis 6							146.0	152.0	150.0					19																	11313296		2101	4217	6318	SO:0001819	synonymous_variant	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11313296C>T		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.5325G>A	19.37:g.11313296C>T						DOCK6_uc002mqr.3_Silent_p.S175S|DOCK6_uc010xlq.1_Silent_p.S1114S	p.S1775S	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN			42	5366	-			1775			DHR-2.		A6H8X5|Q7Z7P4|Q9P2F2	Silent	SNP	ENST00000294618.7	37	c.5325G>A	CCDS45975.1																																																																																				0.632	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1		NM_020812		19	251	0	0	0	0.00278	0	19	251		
RGL3	57139	broad.mit.edu	37	19	11527337	11527337	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:11527337C>G	ENST00000380456.3	-	4	439	c.376G>C	c.(376-378)Gag>Cag	p.E126Q	RGL3_ENST00000393423.3_Missense_Mutation_p.E126Q	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	126	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						TTCTTGATCTCTACCCTGGGA	0.572																																					GBM(174;751 2067 17998 27979 33959)	uc002mrp.2		NaN																	0				ovary(1)	1						c.(376-378)GAG>CAG		ral guanine nucleotide dissociation							92.0	86.0	88.0					19																	11527337		2203	4300	6503	SO:0001583	missense	57139				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular		g.chr19:11527337C>G	BC014426	CCDS32910.1, CCDS54221.1	19p13.2	2008-02-05				ENSG00000205517			30282	protein-coding gene	gene with protein product						10869344	Standard	NM_001035223		Approved	FLJ32585	uc002mro.2	Q3MIN7		ENST00000380456.3:c.376G>C	19.37:g.11527337C>G	ENSP00000369823:p.Glu126Gln					RGL3_uc002mrn.2_5'UTR|RGL3_uc002mrm.2_Splice_Site|RGL3_uc002mro.2_Missense_Mutation_p.E126Q|RGL3_uc002mrq.2_3'UTR	p.E126Q	NM_001035223	NP_001030300	Q3MIN7	RGL3_HUMAN			4	440	-			126			N-terminal Ras-GEF.		B5ME84|B7ZL22|Q0P6G0	Missense_Mutation	SNP	ENST00000380456.3	37	c.376G>C	CCDS32910.1	.	.	.	.	.	.	.	.	.	.	C	3.484	-0.105269	0.06967	.	.	ENSG00000205517	ENST00000393423;ENST00000380456;ENST00000453604	T;T	0.34072	1.38;1.38	3.95	1.69	0.24217	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	2.346590	0.01540	N	0.019210	T	0.43010	0.1228	L	0.55213	1.73	0.80722	D	1	B;B	0.31256	0.302;0.316	B;B	0.36608	0.229;0.101	T	0.14531	-1.0469	10	0.62326	D	0.03	.	10.6047	0.45388	0.0:0.6209:0.3791:0.0	.	126;126	Q3MIN7;B5ME84	RGL3_HUMAN;.	Q	126	ENSP00000377075:E126Q;ENSP00000369823:E126Q	ENSP00000369823:E126Q	E	-	1	0	RGL3	11388337	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-0.385000	0.07379	0.373000	0.24621	-0.305000	0.09177	GAG		0.572	RGL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421208.3		XM_290867		6	115	0	0	0	0.001984	0	6	115		
ANKLE1	126549	broad.mit.edu	37	19	17394183	17394183	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:17394183G>T	ENST00000394458.3	+	5	886	c.610G>T	c.(610-612)Ggg>Tgg	p.G204W	ANKLE1_ENST00000404085.1_Missense_Mutation_p.G226W|ANKLE1_ENST00000594072.1_Missense_Mutation_p.G193W|ANKLE1_ENST00000433424.2_Missense_Mutation_p.G258W|ANKLE1_ENST00000598347.1_Missense_Mutation_p.G204W	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	204										large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						GGACAAACATGGGAGCTCGGC	0.607																																						uc002nga.2		NaN																	0					0						c.(610-612)GGG>TGG		ankyrin repeat domain 41							78.0	90.0	86.0					19																	17394183		2202	4300	6502	SO:0001583	missense	126549					nuclear envelope		g.chr19:17394183G>T	AK096688	CCDS12354.2, CCDS12354.3	19p13.11	2013-01-10	2008-03-25	2008-03-25	ENSG00000160117	ENSG00000160117		"""Ankyrin repeat domain containing"""	26812	protein-coding gene	gene with protein product	"""LEM domain containing 6"""		"""ankyrin repeat domain 41"""	ANKRD41			Standard	NM_152363		Approved	FLJ39369, LEMD6	uc002nga.2	Q8NAG6	OTTHUMG00000150839	ENST00000394458.3:c.610G>T	19.37:g.17394183G>T	ENSP00000377971:p.Gly204Trp					ANKLE1_uc010xpm.1_RNA|ANKLE1_uc010eao.1_Missense_Mutation_p.G226W|ANKLE1_uc010xpn.1_Missense_Mutation_p.G258W|ANKLE1_uc002nfy.2_Missense_Mutation_p.G193W|ANKLE1_uc002nfz.2_5'UTR	p.G204W	NM_152363	NP_689576	Q8NAG6	ANKL1_HUMAN			5	886	+			204					A8VU82|Q8N8J8	Missense_Mutation	SNP	ENST00000394458.3	37	c.610G>T	CCDS12354.2	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910002	0.52439	.	.	ENSG00000160117	ENST00000404261;ENST00000433424;ENST00000404085;ENST00000394458;ENST00000438921	T;T;T	0.73681	-0.67;-0.77;-0.74	4.18	-1.13	0.09775	.	7.452280	0.00166	N	0.000015	T	0.73071	0.3540	N	0.19112	0.55	0.09310	N	1	D;D;D;D	0.76494	0.999;0.99;0.992;0.983	D;P;P;P	0.64321	0.924;0.852;0.869;0.715	T	0.59690	-0.7407	10	0.41790	T	0.15	-23.5753	4.5233	0.11969	0.2232:0.3463:0.4305:0.0	.	204;190;204;193	E7ETZ9;Q8NAG6-1;Q8NAG6;A0JLW0	.;.;ANKL1_HUMAN;.	W	204;258;226;193;204	ENSP00000384753:G204W;ENSP00000394460:G258W;ENSP00000384008:G226W	ENSP00000377971:G193W	G	+	1	0	ANKLE1	17255183	0.000000	0.05858	0.000000	0.03702	0.483000	0.33249	-2.808000	0.00756	-0.311000	0.08754	0.313000	0.20887	GGG		0.607	ANKLE1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325392.2		NM_152363		20	130	1	0	2.4624e-09	0.008871	2.6676e-09	20	130		
ANKLE1	126549	broad.mit.edu	37	19	17394264	17394264	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:17394264G>C	ENST00000394458.3	+	5	967	c.691G>C	c.(691-693)Gag>Cag	p.E231Q	ANKLE1_ENST00000404085.1_Missense_Mutation_p.E253Q|ANKLE1_ENST00000594072.1_Missense_Mutation_p.E220Q|ANKLE1_ENST00000433424.2_Missense_Mutation_p.E285Q|ANKLE1_ENST00000598347.1_Missense_Mutation_p.E231Q	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	231										large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						CTCTGGAGCTGAGGACCCAGC	0.607																																						uc002nga.2		NaN																	0					0						c.(691-693)GAG>CAG		ankyrin repeat domain 41							55.0	62.0	60.0					19																	17394264		2203	4300	6503	SO:0001583	missense	126549					nuclear envelope		g.chr19:17394264G>C	AK096688	CCDS12354.2, CCDS12354.3	19p13.11	2013-01-10	2008-03-25	2008-03-25	ENSG00000160117	ENSG00000160117		"""Ankyrin repeat domain containing"""	26812	protein-coding gene	gene with protein product	"""LEM domain containing 6"""		"""ankyrin repeat domain 41"""	ANKRD41			Standard	NM_152363		Approved	FLJ39369, LEMD6	uc002nga.2	Q8NAG6	OTTHUMG00000150839	ENST00000394458.3:c.691G>C	19.37:g.17394264G>C	ENSP00000377971:p.Glu231Gln					ANKLE1_uc010xpm.1_RNA|ANKLE1_uc010eao.1_Missense_Mutation_p.E253Q|ANKLE1_uc010xpn.1_Missense_Mutation_p.E285Q|ANKLE1_uc002nfy.2_Missense_Mutation_p.E220Q|ANKLE1_uc002nfz.2_5'UTR	p.E231Q	NM_152363	NP_689576	Q8NAG6	ANKL1_HUMAN			5	967	+			231					A8VU82|Q8N8J8	Missense_Mutation	SNP	ENST00000394458.3	37	c.691G>C	CCDS12354.2	.	.	.	.	.	.	.	.	.	.	G	15.15	2.748787	0.49257	.	.	ENSG00000160117	ENST00000404261;ENST00000433424;ENST00000404085;ENST00000394458;ENST00000438921	T;T;T	0.73789	-0.68;-0.78;-0.74	4.1	0.727	0.18254	.	3.683440	0.01102	N	0.005386	T	0.67363	0.2885	L	0.27053	0.805	0.09310	N	1	P;P;P;P	0.48764	0.915;0.763;0.608;0.608	P;B;B;B	0.47603	0.551;0.387;0.205;0.156	T	0.56438	-0.7979	10	0.30078	T	0.28	2.7601	5.7062	0.17909	0.3587:0.0:0.6413:0.0	.	231;217;231;220	E7ETZ9;Q8NAG6-1;Q8NAG6;A0JLW0	.;.;ANKL1_HUMAN;.	Q	231;285;253;220;231	ENSP00000384753:E231Q;ENSP00000394460:E285Q;ENSP00000384008:E253Q	ENSP00000377971:E220Q	E	+	1	0	ANKLE1	17255264	0.000000	0.05858	0.002000	0.10522	0.093000	0.18481	-0.019000	0.12546	0.321000	0.23259	0.313000	0.20887	GAG		0.607	ANKLE1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325392.2		NM_152363		14	98	0	0	0	0.003163	0	14	98		
ZNF43	7594	broad.mit.edu	37	19	21991453	21991453	+	Silent	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:21991453G>C	ENST00000354959.4	-	4	1555	c.1386C>G	c.(1384-1386)gcC>gcG	p.A462A	ZNF43_ENST00000594012.1_Silent_p.A456A|ZNF43_ENST00000598381.1_Silent_p.A456A|ZNF43_ENST00000595461.1_Silent_p.A456A	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	462					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)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		ACTGGTTAAAGGCTTTGCCAC	0.398																																						uc002nqj.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(1384-1386)GCC>GCG		zinc finger protein 43							60.0	62.0	62.0					19																	21991453		2203	4300	6503	SO:0001819	synonymous_variant	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21991453G>C	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.1386C>G	19.37:g.21991453G>C						ZNF43_uc010ecv.2_Silent_p.A456A|ZNF43_uc002nql.2_Silent_p.A456A|ZNF43_uc002nqm.2_Silent_p.A456A|ZNF43_uc002nqk.2_Silent_p.A392A	p.A462A	NM_003423	NP_003414	P17038	ZNF43_HUMAN		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)	4	1516	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)	462			C2H2-type 11.		A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Silent	SNP	ENST00000354959.4	37	c.1386C>G	CCDS12413.2																																																																																				0.398	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2		NM_003423		9	81	0	0	0	0.004482	0	9	81		
FBXO27	126433	broad.mit.edu	37	19	39516075	39516075	+	Silent	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:39516075C>T	ENST00000292853.4	-	6	947	c.828G>A	c.(826-828)gtG>gtA	p.V276V	FBXO27_ENST00000600828.1_Silent_p.V275V|FBXO27_ENST00000509137.2_Silent_p.V276V	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	276	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CTCGCACGATCACACTGGAGT	0.587																																						uc002okh.2		NaN																	0				ovary(1)	1						c.(826-828)GTG>GTA		F-box protein 27							112.0	97.0	102.0					19																	39516075		2203	4300	6503	SO:0001819	synonymous_variant	126433				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding	g.chr19:39516075C>T	AF436061	CCDS12527.1	19q13.2	2008-02-05	2004-06-15			ENSG00000161243		"""F-boxes /  ""other"""""	18753	protein-coding gene	gene with protein product		609099	"""F-box only protein 27"""			126433	Standard	NM_178820		Approved	Fbg5, Fbx27	uc002okh.3	Q8NI29		ENST00000292853.4:c.828G>A	19.37:g.39516075C>T							p.V276V	NM_178820	NP_849142	Q8NI29	FBX27_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		6	910	-	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		276			FBA.		Q96C87	Silent	SNP	ENST00000292853.4	37	c.828G>A	CCDS12527.1																																																																																				0.587	FBXO27-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463281.1				8	143	0	0	0	0.006214	0	8	143		
ITPKC	80271	broad.mit.edu	37	19	41239168	41239168	+	Missense_Mutation	SNP	G	G	A	rs144541337		TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:41239168G>A	ENST00000263370.2	+	4	1606	c.1573G>A	c.(1573-1575)Gag>Aag	p.E525K		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	525					inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CCCTACCCCTGAGGAGCATGC	0.612																																						uc002oot.2		NaN																	0					0						c.(1573-1575)GAG>AAG		inositol 1,4,5-trisphosphate 3-kinase C		G	LYS/GLU	0,4406		0,0,2203	54.0	49.0	51.0		1573	4.5	1.0	19	dbSNP_134	51	1,8599	1.2+/-3.3	0,1,4299	no	missense	ITPKC	NM_025194.2	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	525/684	41239168	1,13005	2203	4300	6503	SO:0001583	missense	80271					cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr19:41239168G>A	Y11999	CCDS12563.1	19q13.1	2011-04-28	2011-04-28		ENSG00000086544	ENSG00000086544	2.7.1.127		14897	protein-coding gene	gene with protein product		606476	"""inositol 1,4,5-trisphosphate 3-kinase C"""			11085927	Standard	NM_025194		Approved	IP3KC, IP3-3KC	uc002oot.3	Q96DU7		ENST00000263370.2:c.1573G>A	19.37:g.41239168G>A	ENSP00000263370:p.Glu525Lys						p.E525K	NM_025194	NP_079470	Q96DU7	IP3KC_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		4	1606	+			525					Q9UE25|Q9Y475	Missense_Mutation	SNP	ENST00000263370.2	37	c.1573G>A	CCDS12563.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.736032	0.69189	0.0	1.16E-4	ENSG00000086544	ENST00000263370	T	0.15017	2.46	5.59	4.49	0.54785	.	0.146210	0.64402	D	0.000011	T	0.27697	0.0681	M	0.74881	2.28	0.58432	D	0.999999	B	0.29862	0.259	B	0.37731	0.257	T	0.04229	-1.0967	10	0.42905	T	0.14	-21.0069	15.2783	0.73760	0.0:0.1408:0.8592:0.0	.	525	Q96DU7	IP3KC_HUMAN	K	525	ENSP00000263370:E525K	ENSP00000263370:E525K	E	+	1	0	ITPKC	45931008	1.000000	0.71417	0.993000	0.49108	0.987000	0.75469	5.506000	0.66993	2.799000	0.96334	0.644000	0.83932	GAG		0.612	ITPKC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463104.1		NM_025194		8	71	0	0	0	0.00308	0	8	71		
ZNF227	7770	broad.mit.edu	37	19	44740795	44740795	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:44740795C>A	ENST00000313040.7	+	6	2417	c.2212C>A	c.(2212-2214)Cac>Aac	p.H738N	ZNF227_ENST00000391961.2_Missense_Mutation_p.H687N|ZNF227_ENST00000589005.1_Missense_Mutation_p.H687N|ZNF235_ENST00000589799.1_3'UTR	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	738					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)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				CCTGGGTGTTCACACCAGGGA	0.498																																						uc002oyu.2		NaN																	0				ovary(1)	1						c.(2212-2214)CAC>AAC		zinc finger protein 227							84.0	87.0	86.0					19																	44740795		2203	4300	6503	SO:0001583	missense	7770				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44740795C>A	AK092253	CCDS12636.1, CCDS74388.1	19q13.32	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	13020	protein-coding gene	gene with protein product							Standard	XM_005259232		Approved		uc002oyu.3	Q86WZ6		ENST00000313040.7:c.2212C>A	19.37:g.44740795C>A	ENSP00000321049:p.His738Asn					ZNF227_uc010xwu.1_Missense_Mutation_p.H687N|ZNF227_uc002oyv.2_Missense_Mutation_p.H738N|ZNF227_uc010xwv.1_Missense_Mutation_p.H687N|ZNF227_uc010xww.1_Missense_Mutation_p.H659N|ZNF227_uc002oyw.2_Missense_Mutation_p.H710N|ZNF227_uc010ejh.2_Missense_Mutation_p.H731N|ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_3'UTR	p.H738N	NM_182490	NP_872296	Q86WZ6	ZN227_HUMAN			6	2417	+		Prostate(69;0.0435)	738			C2H2-type 17.		B3KRU7|B7Z5P9	Missense_Mutation	SNP	ENST00000313040.7	37	c.2212C>A	CCDS12636.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.642225	0.67244	.	.	ENSG00000131115	ENST00000313040;ENST00000328297;ENST00000391961;ENST00000418980;ENST00000377916	T;T	0.67345	-0.26;-0.26	3.92	3.92	0.45320	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.86075	0.5846	H	0.94847	3.59	0.80722	D	1	D;P;D;D	0.76494	0.999;0.945;0.992;0.999	D;D;D;D	0.87578	0.998;0.979;0.991;0.998	D	0.90396	0.4399	9	0.87932	D	0	.	15.236	0.73432	0.0:1.0:0.0:0.0	.	659;717;690;738	B7Z6M2;Q658S5;Q9NS43;Q86WZ6	.;.;.;ZN227_HUMAN	N	738;695;687;717;377	ENSP00000321049:H738N;ENSP00000375823:H687N	ENSP00000321049:H738N	H	+	1	0	ZNF227	49432635	1.000000	0.71417	0.081000	0.20488	0.983000	0.72400	7.158000	0.77470	2.191000	0.70037	0.563000	0.77884	CAC		0.498	ZNF227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460720.1		NM_182490		15	146	1	0	1.15088e-07	0.004007	1.23697e-07	15	146		
DMPK	1760	broad.mit.edu	37	19	46278206	46278206	+	Splice_Site	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:46278206C>G	ENST00000291270.4	-	9	1358		c.e9+1		AC074212.6_ENST00000586251.1_RNA|AC074212.6_ENST00000590076.1_RNA|AC074212.6_ENST00000591530.1_RNA|DMPK_ENST00000595361.1_5'UTR|DMPK_ENST00000343373.4_Splice_Site|DMPK_ENST00000458663.2_Splice_Site|AC074212.6_ENST00000586498.1_RNA|DMPK_ENST00000600757.1_Splice_Site|DMPK_ENST00000447742.2_Splice_Site|DMPK_ENST00000354227.5_Splice_Site	NM_004409.3	NP_004400.4	Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase						cellular calcium ion homeostasis (GO:0006874)|muscle cell apoptotic process (GO:0010657)|nuclear envelope organization (GO:0006998)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction (GO:0014853)|regulation of heart contraction (GO:0008016)|regulation of myotube differentiation (GO:0010830)|regulation of skeletal muscle contraction by calcium ion signaling (GO:0014722)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of mitochondrial outer membrane (GO:0031307)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|myosin phosphatase regulator activity (GO:0017020)|protein serine/threonine kinase activity (GO:0004674)			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		GCAGTGCTTACCTGAGGGCCA	0.612																																					Esophageal Squamous(35;307 869 9153 24033 28903)	uc002pdd.1		NaN																	0				lung(3)	3						c.e8+1		myotonic dystrophy protein kinase isoform 1							75.0	52.0	60.0					19																	46278206		2203	4300	6503	SO:0001630	splice_region_variant	1760				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:46278206C>G	L19268	CCDS12674.1, CCDS46117.1, CCDS46118.1, CCDS46119.1, CCDS74400.1	19q13.3	2014-02-05					2.7.11.1		2933	protein-coding gene	gene with protein product	"""dystrophia myotonica 1"", ""DM protein kinase"", ""myotonin protein kinase A"", ""myotonic dystrophy associated protein kinase"", ""thymopoietin homolog"""	605377	"""dystrophia myotonica 1 (includes dystrophia myotonia protein kinase)"""	DM1, DM		1546325, 1546326	Standard	NM_001288765		Approved	DMK, DM1PK, MDPK, MT-PK	uc002pdf.1	Q09013		ENST00000291270.4:c.1232+1G>C	19.37:g.46278206C>G						DMPK_uc010xxs.1_Splice_Site_p.R322_splice|DMPK_uc002pde.1_Splice_Site_p.R416_splice|DMPK_uc002pdf.1_Splice_Site_p.R411_splice|DMPK_uc002pdg.1_Splice_Site_p.R406_splice|DMPK_uc002pdh.1_Splice_Site_p.R406_splice|DMPK_uc002pdi.1_Splice_Site_p.R437_splice|DMPK_uc010xxt.1_Splice_Site_p.R406_splice	p.R421_splice	NM_001081563	NP_001075032	Q09013	DMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)	8	1806	-		Ovarian(192;0.0308)|all_neural(266;0.112)						E5KR08|Q16205|Q6P5Z6	Splice_Site	SNP	ENST00000291270.4	37	c.1262_splice	CCDS12674.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.299663	0.81136	.	.	ENSG00000104936	ENST00000458663;ENST00000342805;ENST00000291270;ENST00000447742;ENST00000377750;ENST00000343373;ENST00000348168;ENST00000354227	.	.	.	4.43	4.43	0.53597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4348	0.55593	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DMPK	50970046	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.927000	0.70080	2.310000	0.77875	0.561000	0.74099	.		0.612	DMPK-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460572.1		NM_004409	Intron	4	56	0	0	0	0.009096	0	4	56		
FOXA3	3171	broad.mit.edu	37	19	46375619	46375619	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:46375619C>T	ENST00000302177.2	+	2	553	c.356C>T	c.(355-357)cCg>cTg	p.P119L		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	119					cell differentiation (GO:0030154)|cellular glucose homeostasis (GO:0001678)|cellular response to starvation (GO:0009267)|chromatin modification (GO:0016568)|endocrine pancreas development (GO:0031018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		GCCAAGCCACCGTATTCCTAT	0.627																																						uc002pdr.2		NaN																	0				breast(1)	1						c.(355-357)CCG>CTG		forkhead box A3							67.0	67.0	67.0					19																	46375619		2203	4300	6503	SO:0001583	missense	3171				brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr19:46375619C>T	L12141	CCDS12677.1	19q13.32	2014-09-11		2002-09-20	ENSG00000170608	ENSG00000170608		"""Forkhead boxes"""	5023	protein-coding gene	gene with protein product		602295	"""hepatocyte nuclear factor 3, gamma"""	HNF3G		9119385	Standard	NM_004497		Approved		uc002pdr.3	P55318	OTTHUMG00000182484	ENST00000302177.2:c.356C>T	19.37:g.46375619C>T	ENSP00000304004:p.Pro119Leu						p.P119L	NM_004497	NP_004488	P55318	FOXA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)	2	553	+		Ovarian(192;0.0308)|all_neural(266;0.0476)	119			Fork-head.		A9LYI5|Q53F16|Q9UMW9	Missense_Mutation	SNP	ENST00000302177.2	37	c.356C>T	CCDS12677.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434270	0.62955	.	.	ENSG00000170608	ENST00000302177	D	0.98381	-4.9	4.33	4.33	0.51752	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);Transcription factor, fork head, conserved site (1);	0.070494	0.56097	D	0.000022	D	0.99214	0.9727	H	0.95079	3.62	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98829	1.0750	10	0.87932	D	0	.	14.366	0.66805	0.0:1.0:0.0:0.0	.	119	P55318	FOXA3_HUMAN	L	119	ENSP00000304004:P119L	ENSP00000304004:P119L	P	+	2	0	FOXA3	51067459	1.000000	0.71417	0.056000	0.19401	0.449000	0.32228	7.645000	0.83430	2.242000	0.73789	0.297000	0.19635	CCG		0.627	FOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461682.1				15	127	0	0	0	0.003163	0	15	127		
C19orf48	84798	broad.mit.edu	37	19	51301447	51301447	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:51301447C>T	ENST00000598463.1	-	5	1357	c.259G>A	c.(259-261)Gag>Aag	p.E87K	SNORD88A_ENST00000408314.1_RNA|C19orf48_ENST00000595794.1_5'Flank|C19orf48_ENST00000596655.1_Missense_Mutation_p.E87K|SNORD88B_ENST00000408454.1_RNA|C19orf48_ENST00000345523.4_Missense_Mutation_p.E87K|C19orf48_ENST00000391812.1_Missense_Mutation_p.E87K			Q6RUI8	CS048_HUMAN	chromosome 19 open reading frame 48	87										endometrium(1)|kidney(1)|lung(1)|ovary(1)	4		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00531)|GBM - Glioblastoma multiforme(134;0.0145)		GCCCAGGTCTCACGGTGGCGT	0.642																																						uc002ptf.2		NaN																	0				ovary(1)	1						c.(259-261)GAG>AAG		multidrug resistance-related protein							102.0	96.0	98.0					19																	51301447		2203	4300	6503	SO:0001583	missense	84798							g.chr19:51301447C>T	BC037227	CCDS12803.1	19q13.33	2012-10-26			ENSG00000167747	ENSG00000167747			29667	protein-coding gene	gene with protein product	"""multidrug resistance-related protein"""					12452007	Standard	NM_001290154		Approved	MGC13170	uc002ptg.3	Q6RUI8		ENST00000598463.1:c.259G>A	19.37:g.51301447C>T	ENSP00000471463:p.Glu87Lys					C19orf48_uc002pte.2_RNA|C19orf48_uc002ptg.2_Missense_Mutation_p.E87K	p.E87K	NM_199249	NP_954857	Q6RUI8	CS048_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00531)|GBM - Glioblastoma multiforme(134;0.0145)	5	1181	-		all_neural(266;0.057)	87						Missense_Mutation	SNP	ENST00000598463.1	37	c.259G>A	CCDS12803.1	.	.	.	.	.	.	.	.	.	.	c	2.748	-0.260762	0.05791	.	.	ENSG00000167747	ENST00000391812;ENST00000345523	T;T	0.29142	1.58;1.58	0.766	-1.53	0.08611	.	.	.	.	.	T	0.13713	0.0332	N	0.14661	0.345	0.09310	N	1	B	0.28128	0.201	B	0.20767	0.031	T	0.16158	-1.0412	9	0.87932	D	0	.	2.2509	0.04043	0.3482:0.3472:0.3046:0.0	.	87	Q6RUI8	CS048_HUMAN	K	87	ENSP00000375688:E87K;ENSP00000301419:E87K	ENSP00000301419:E87K	E	-	1	0	C19orf48	55993259	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	0.601000	0.24119	-0.959000	0.03618	-0.802000	0.03209	GAG		0.642	C19orf48-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464107.1		NM_032712		16	115	0	0	0	0.003163	0	16	115		
ZNF841	284371	broad.mit.edu	37	19	52570184	52570184	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:52570184G>C	ENST00000426391.2	-	5	1154	c.603C>G	c.(601-603)taC>taG	p.Y201*	ZNF841_ENST00000359973.2_Nonsense_Mutation_p.Y201*|ZNF841_ENST00000389534.4_Nonsense_Mutation_p.Y317*|ZNF841_ENST00000594295.1_Nonsense_Mutation_p.Y317*|ZNF432_ENST00000598446.1_Intron			Q6ZN19	ZN841_HUMAN	zinc finger protein 841	201					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(3)|lung(3)	11						CATCACATTGGTATGGTTTCC	0.418																																						uc002pyl.1		NaN																	0					0						c.(601-603)TAC>TAG		zinc finger protein 841							117.0	95.0	101.0					19																	52570184		692	1591	2283	SO:0001587	stop_gained	284371				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52570184G>C	AK131409	CCDS46161.1	19q13.41	2013-01-08			ENSG00000197608	ENSG00000197608		"""Zinc fingers, C2H2-type"", ""-"""	27611	protein-coding gene	gene with protein product							Standard	NM_001136499		Approved	LOC284371	uc010ydh.1	Q6ZN19		ENST00000426391.2:c.603C>G	19.37:g.52570184G>C	ENSP00000415453:p.Tyr201*					ZNF841_uc010ydh.1_Nonsense_Mutation_p.Y317*|ZNF841_uc010epk.1_Nonsense_Mutation_p.Y201*	p.Y201*	NM_001136499	NP_001129971	Q6ZN19	ZN841_HUMAN			5	1155	-			201			C2H2-type 3.		B9EG58|Q6ZN82|Q6ZP71|Q8N9U7	Nonsense_Mutation	SNP	ENST00000426391.2	37	c.603C>G		.	.	.	.	.	.	.	.	.	.	G	38	6.737832	0.97801	.	.	ENSG00000197608	ENST00000389534;ENST00000426391;ENST00000359973	.	.	.	2.11	1.04	0.20106	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.3233	0.21229	0.8607:0.0:0.1393:0.0	.	.	.	.	X	317;201;201	.	ENSP00000353060:Y201X	Y	-	3	2	ZNF841	57261996	0.000000	0.05858	0.003000	0.11579	0.118000	0.20060	-0.235000	0.09016	0.071000	0.16664	-0.959000	0.02639	TAC		0.418	ZNF841-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000462435.1		XM_209155		6	44	0	0	0	0.001168	0	6	44		
ZNF845	91664	broad.mit.edu	37	19	53854397	53854397	+	Missense_Mutation	SNP	G	G	C	rs10415799	byFrequency	TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:53854397G>C	ENST00000595091.1	+	5	688	c.469G>C	c.(469-471)Gaa>Caa	p.E157Q	ZNF845_ENST00000458035.1_Missense_Mutation_p.E157Q			Q96IR2	ZN845_HUMAN	zinc finger protein 845	157					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E157Q(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GTTTCAGACCGAAGGGAAAAT	0.408													.|||	1723	0.34405	0.2307	0.2882	5008	,	,		21024	0.4702		0.3738	False		,,,				2504	0.3763					uc010ydv.1		NaN																	3	Substitution - Missense(3)		kidney(2)|stomach(1)		0						c.(469-471)GAA>CAA		zinc finger protein 845		G	GLN/GLU	332,1052		44,244,404	69.0	48.0	54.0		469	-1.4	0.0	19	dbSNP_119	54	1198,1984		230,738,623	no	missense	ZNF845	NM_138374.1	29	274,982,1027	CC,CG,GG		37.6493,23.9884,33.5085	benign	157/971	53854397	1530,3036	692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53854397G>C	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.469G>C	19.37:g.53854397G>C	ENSP00000470005:p.Glu157Gln					ZNF845_uc010ydw.1_Missense_Mutation_p.E157Q	p.E157Q	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN			4	586	+			157						Missense_Mutation	SNP	ENST00000595091.1	37	c.469G>C	CCDS46170.1	792	0.3626373626373626	129	0.2621951219512195	114	0.3149171270718232	283	0.49475524475524474	266	0.35092348284960423	G	1.231	-0.624000	0.03636	0.239884	0.376493	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.08282	3.11	1.2	-1.38	0.09027	.	.	.	.	.	T	0.00012	0.0000	L	0.48935	1.535	0.80722	P	0.0	B	0.28933	0.228	B	0.29663	0.105	T	0.42799	-0.9430	8	0.18276	T	0.48	.	3.6513	0.08205	0.1859:0.2581:0.556:0.0	rs10415799	157	Q96IR2	ZN845_HUMAN	Q	157	ENSP00000388311:E157Q	ENSP00000412086:E157Q	E	+	1	0	ZNF845	58546209	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.057000	0.14279	-0.374000	0.07967	0.411000	0.27672	GAA		0.408	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1		XM_039908		9	211	0	0	0	0.006214	0	9	211		
U2AF2	11338	broad.mit.edu	37	19	56171880	56171880	+	Splice_Site	SNP	A	A	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:56171880A>C	ENST00000308924.4	+	4	270		c.e4-1		CTD-2537I9.12_ENST00000589456.1_RNA|U2AF2_ENST00000590551.1_5'Flank|CTD-2537I9.12_ENST00000585940.1_RNA|U2AF2_ENST00000450554.2_Splice_Site			P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.?(2)		biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CACCTCCCCCAGTCGTTCCCC	0.637																																						uc002qlu.2		NaN																	2	Unknown(2)		prostate(1)|central_nervous_system(1)	ovary(1)	1						c.e4-2		U2 (RNU2) small nuclear RNA auxiliary factor 2							28.0	26.0	27.0					19																	56171880		2203	4300	6503	SO:0001630	splice_region_variant	11338				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding	g.chr19:56171880A>C	BC008740	CCDS12933.1, CCDS46197.1	19q13.43	2014-09-17	2006-04-11			ENSG00000063244		"""RNA binding motif (RRM) containing"""	23156	protein-coding gene	gene with protein product	"""U2 small nuclear ribonucleoprotein auxiliary factor (65kD)"", ""splicing factor U2AF 65 kD subunit"", ""U2 snRNP auxiliary factor large subunit"""	191318	"""U2 (RNU2) small nuclear RNA auxiliary factor 2"""			1538748	Standard	XM_006722994		Approved	U2AF65	uc002qlu.3	P26368		ENST00000308924.4:c.231-1A>C	19.37:g.56171880A>C						U2AF2_uc002qlt.2_Splice_Site_p.I77_splice	p.I77_splice	NM_007279	NP_009210	P26368	U2AF2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)	4	1286	+		Colorectal(82;0.00244)|Ovarian(87;0.133)						Q96HC5	Splice_Site	SNP	ENST00000308924.4	37	c.231_splice	CCDS12933.1	.	.	.	.	.	.	.	.	.	.	-	17.96	3.515229	0.64634	.	.	ENSG00000063244	ENST00000308924;ENST00000450554	.	.	.	3.61	3.61	0.41365	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.1346	0.42699	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	U2AF2	60863692	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	8.427000	0.90275	1.646000	0.50622	0.387000	0.25754	.		0.637	U2AF2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453599.1		NM_007279	Intron	4	22	0	0	0	0.001168	0	4	22		
NLRP5	126206	broad.mit.edu	37	19	56539147	56539147	+	Silent	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:56539147C>T	ENST00000390649.3	+	7	1548	c.1548C>T	c.(1546-1548)gtC>gtT	p.V516V		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	516	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GAGGCGTGGTCCGGCGCTGTC	0.592																																						uc002qmj.2		NaN																	0				ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7						c.(1546-1548)GTC>GTT		NACHT, LRR and PYD containing protein 5							43.0	44.0	44.0					19																	56539147		2126	4231	6357	SO:0001819	synonymous_variant	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56539147C>T	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.1548C>T	19.37:g.56539147C>T						NLRP5_uc002qmi.2_Silent_p.V497V	p.V516V	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	7	1548	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	516			NACHT.		A8MTY4|Q86W29	Silent	SNP	ENST00000390649.3	37	c.1548C>T	CCDS12938.1																																																																																				0.592	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1		NM_153447		8	29	0	0	0	0.00308	0	8	29		
ZNF132	7691	broad.mit.edu	37	19	58946488	58946488	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:58946488G>A	ENST00000254166.3	-	3	723	c.323C>T	c.(322-324)cCt>cTt	p.P108L		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	108	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		CTTGGTGGAAGGATCTGCATT	0.498																																						uc002qst.3		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(322-324)CCT>CTT		zinc finger protein 132							153.0	149.0	150.0					19																	58946488		2203	4300	6503	SO:0001583	missense	7691					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58946488G>A	U09411	CCDS12980.1	19q13.4	2013-01-08	2006-06-13			ENSG00000131849		"""Zinc fingers, C2H2-type"", ""-"""	12916	protein-coding gene	gene with protein product		604074	"""zinc finger protein 132 (clone pHZ-12)"""			7557990	Standard	NM_003433		Approved	pHZ-12	uc002qst.4	P52740		ENST00000254166.3:c.323C>T	19.37:g.58946488G>A	ENSP00000254166:p.Pro108Leu						p.P108L	NM_003433	NP_003424	P52740	ZN132_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)	3	724	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	108			KRAB.		Q32MI9	Missense_Mutation	SNP	ENST00000254166.3	37	c.323C>T	CCDS12980.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.570351	0.00895	.	.	ENSG00000131849	ENST00000254166	T	0.05447	3.44	2.49	-3.25	0.05079	Krueppel-associated box (1);	.	.	.	.	T	0.02970	0.0088	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48768	-0.9006	9	0.11182	T	0.66	.	8.7674	0.34711	0.7364:0.0:0.2636:0.0	.	108	P52740	ZN132_HUMAN	L	108	ENSP00000254166:P108L	ENSP00000254166:P108L	P	-	2	0	ZNF132	63638300	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.045000	0.12003	-0.705000	0.05035	-0.208000	0.12717	CCT		0.498	ZNF132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467035.1		NM_003433		27	210	0	0	0	0.008361	0	27	210		
ASAP2	8853	broad.mit.edu	37	2	9498900	9498900	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:9498900C>A	ENST00000281419.3	+	15	1683	c.1343C>A	c.(1342-1344)tCc>tAc	p.S448Y	ASAP2_ENST00000315273.4_Missense_Mutation_p.S448Y	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	448	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						ACATGGCTTTCCACCAACCTG	0.498																																						uc002qzh.2		NaN																	0					0						c.(1342-1344)TCC>TAC		ArfGAP with SH3 domain, ankyrin repeat and PH							210.0	207.0	208.0					2																	9498900		2203	4300	6503	SO:0001583	missense	8853				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr2:9498900C>A	AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2721	protein-coding gene	gene with protein product	"""centaurin, beta 3"""	603817	"""development and differentiation enhancing factor 2"""	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.1343C>A	2.37:g.9498900C>A	ENSP00000281419:p.Ser448Tyr					ASAP2_uc002qzi.2_Missense_Mutation_p.S448Y	p.S448Y	NM_003887	NP_003878	O43150	ASAP2_HUMAN			15	1683	+			448			Arf-GAP.		D6W4Y8	Missense_Mutation	SNP	ENST00000281419.3	37	c.1343C>A	CCDS1661.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.537343	0.85812	.	.	ENSG00000151693	ENST00000281419;ENST00000315273	T;T	0.56275	0.47;0.47	5.65	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.83885	0.5351	H	0.99182	4.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.90610	0.4551	10	0.87932	D	0	.	14.6876	0.69059	0.0:0.9303:0.0:0.0697	.	448;448	O43150-2;O43150	.;ASAP2_HUMAN	Y	448	ENSP00000281419:S448Y;ENSP00000316404:S448Y	ENSP00000281419:S448Y	S	+	2	0	ASAP2	9416351	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.808000	0.86044	1.400000	0.46741	0.655000	0.94253	TCC		0.498	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1		NM_003887		48	321	1	0	4.75955e-12	0.00361	5.23934e-12	48	321		
ROCK2	9475	broad.mit.edu	37	2	11355053	11355053	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:11355053C>G	ENST00000315872.6	-	16	2297	c.1849G>C	c.(1849-1851)Gaa>Caa	p.E617Q	ROCK2_ENST00000401753.1_Missense_Mutation_p.E374Q	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	617	Interaction with PPP1R12A.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		AATTCCTTTTCAAGTTTTAAC	0.383																																						uc002rbd.1		NaN																	0				stomach(2)|skin(2)	4						c.(1849-1851)GAA>CAA		Rho-associated, coiled-coil containing protein							90.0	82.0	84.0					2																	11355053		1814	4076	5890	SO:0001583	missense	9475				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	g.chr2:11355053C>G	D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.1849G>C	2.37:g.11355053C>G	ENSP00000317985:p.Glu617Gln						p.E617Q	NM_004850	NP_004841	O75116	ROCK2_HUMAN		Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)	16	2298	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		617			Potential.|Interaction with PPP1R12A.		Q53QZ0|Q53SJ7|Q9UQN5	Missense_Mutation	SNP	ENST00000315872.6	37	c.1849G>C	CCDS42654.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.939805	0.52972	.	.	ENSG00000134318	ENST00000315872;ENST00000401753	T;T	0.64618	-0.11;0.92	5.03	5.03	0.67393	.	0.052169	0.85682	D	0.000000	T	0.54175	0.1842	L	0.45352	1.415	0.58432	D	0.999999	B	0.29590	0.25	B	0.27796	0.083	T	0.51458	-0.8703	10	0.14252	T	0.57	.	18.3685	0.90399	0.0:1.0:0.0:0.0	.	617	O75116	ROCK2_HUMAN	Q	617;374	ENSP00000317985:E617Q;ENSP00000385509:E374Q	ENSP00000317985:E617Q	E	-	1	0	ROCK2	11272504	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.461000	0.80834	2.326000	0.78906	0.650000	0.86243	GAA		0.383	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3				6	94	0	0	0	0.001168	0	6	94		
NT5C1B	93034	broad.mit.edu	37	2	18757543	18757543	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:18757543G>A	ENST00000359846.2	-	9	1493	c.1416C>T	c.(1414-1416)ctC>ctT	p.L472L	NT5C1B-RDH14_ENST00000532967.1_Silent_p.L472L|NT5C1B_ENST00000304081.4_Silent_p.L412L|NT5C1B_ENST00000600945.1_Silent_p.L472L	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	472					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				CATCAGAGAAGAGGACAGCAT	0.453																																						uc002rcz.2		NaN																	0				skin(2)|ovary(1)	3						c.(1414-1416)CTC>CTT		5' nucleotidase, cytosolic IB isoform 1							109.0	98.0	102.0					2																	18757543		2203	4300	6503	SO:0001819	synonymous_variant	93034				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding	g.chr2:18757543G>A	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.1416C>T	2.37:g.18757543G>A						NT5C1B_uc002rcy.2_Silent_p.L472L|NT5C1B_uc010exr.2_Silent_p.L414L|NT5C1B_uc010yju.1_Silent_p.L412L|NT5C1B_uc002rda.2_Silent_p.L412L|NT5C1B_uc010yjv.1_Silent_p.L489L|NT5C1B_uc010yjw.1_Silent_p.L455L|NT5C1B_uc010exs.2_Silent_p.L474L	p.L472L	NM_001002006	NP_001002006	Q96P26	5NT1B_HUMAN			9	1520	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)	472					B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Silent	SNP	ENST00000359846.2	37	c.1416C>T	CCDS33150.1	.	.	.	.	.	.	.	.	.	.	G	9.371	1.070488	0.20147	.	.	ENSG00000185013	ENST00000418427	.	.	.	5.33	1.15	0.20763	.	0.000000	0.85682	D	0.000000	T	0.58047	0.2095	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57831	-0.7743	6	0.87932	D	0	-18.4426	4.1219	0.10109	0.1515:0.3248:0.4199:0.1039	.	.	.	.	F	127	.	ENSP00000390811:L127F	L	-	1	0	NT5C1B	18621024	0.993000	0.37304	0.992000	0.48379	0.994000	0.84299	0.248000	0.18198	0.696000	0.31696	0.655000	0.94253	CTT		0.453	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1				5	83	0	0	0	0.001168	0	5	83		
SIX2	10736	broad.mit.edu	37	2	45233476	45233476	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:45233476G>A	ENST00000303077.6	-	2	1028	c.709C>T	c.(709-711)Ccc>Tcc	p.P237S		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	237					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|kidney development (GO:0001822)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal stem cell maintenance involved in nephron morphogenesis (GO:0072038)|mesenchymal stem cell proliferation (GO:0097168)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|middle ear morphogenesis (GO:0042474)|nephron development (GO:0072006)|nephron morphogenesis (GO:0072028)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus (GO:0006606)|regulation of branching involved in ureteric bud morphogenesis (GO:0090189)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AGCCCAGGGGGCGGCGGGCTG	0.701																																						uc002ruo.2		NaN																	0				pancreas(1)	1						c.(709-711)CCC>TCC		SIX homeobox 2							55.0	61.0	59.0					2																	45233476		2203	4300	6503	SO:0001583	missense	10736					nucleus	sequence-specific DNA binding transcription factor activity	g.chr2:45233476G>A	AF136939	CCDS1822.1	2p21	2011-06-20	2007-07-13		ENSG00000170577	ENSG00000170577		"""Homeoboxes / SINE class"""	10888	protein-coding gene	gene with protein product		604994	"""sine oculis homeobox (Drosophila) homolog 2"", ""sine oculis homeobox homolog 2 (Drosophila)"""				Standard	NM_016932		Approved		uc002ruo.3	Q9NPC8	OTTHUMG00000152421	ENST00000303077.6:c.709C>T	2.37:g.45233476G>A	ENSP00000304502:p.Pro237Ser					SIX2_uc002rup.2_Missense_Mutation_p.P239S	p.P237S	NM_016932	NP_058628	Q9NPC8	SIX2_HUMAN			2	1002	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	237					Q9BXH7	Missense_Mutation	SNP	ENST00000303077.6	37	c.709C>T	CCDS1822.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.355111	0.41700	.	.	ENSG00000170577	ENST00000303077	D	0.88818	-2.43	4.33	4.33	0.51752	.	0.221412	0.40064	N	0.001193	T	0.76723	0.4027	N	0.01874	-0.695	0.32369	N	0.556086	B;P	0.48350	0.0;0.909	B;P	0.50440	0.0;0.641	T	0.75897	-0.3155	10	0.08381	T	0.77	-9.928	12.1746	0.54178	0.0:0.0:1.0:0.0	.	237;237	Q8TBA2;Q9NPC8	.;SIX2_HUMAN	S	237	ENSP00000304502:P237S	ENSP00000304502:P237S	P	-	1	0	SIX2	45086980	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	5.174000	0.65015	2.224000	0.72417	0.462000	0.41574	CCC		0.701	SIX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326188.2				16	140	0	0	0	0.00499	0	16	140		
TSPYL6	388951	broad.mit.edu	37	2	54482756	54482756	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:54482756C>G	ENST00000317802.7	-	1	653	c.533G>C	c.(532-534)aGa>aCa	p.R178T	ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000607452.1_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	178					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						ATCTATTGCTCTGTTTTCTTC	0.617																																						uc002rxr.2		NaN																	0					0						c.(532-534)AGA>ACA		TSPY-like 6							55.0	61.0	59.0					2																	54482756		2016	4169	6185	SO:0001583	missense	388951				nucleosome assembly	nucleus		g.chr2:54482756C>G	AK097417	CCDS42682.1	2p16.3	2007-10-22			ENSG00000178021	ENSG00000178021			14521	protein-coding gene	gene with protein product							Standard	NM_001003937		Approved		uc002rxr.2	Q8N831	OTTHUMG00000151823	ENST00000317802.7:c.533G>C	2.37:g.54482756C>G	ENSP00000417919:p.Arg178Thr					ACYP2_uc002rxq.3_Intron	p.R178T	NM_001003937	NP_001003937	Q8N831	TSYL6_HUMAN			1	654	-			178					Q6NUJ3	Missense_Mutation	SNP	ENST00000317802.7	37	c.533G>C	CCDS42682.1	.	.	.	.	.	.	.	.	.	.	C	5.342	0.248449	0.10130	.	.	ENSG00000178021	ENST00000317802	T	0.20463	2.07	1.47	0.558	0.17266	.	.	.	.	.	T	0.13329	0.0323	L	0.29908	0.895	0.09310	N	1	B	0.33494	0.414	B	0.36567	0.228	T	0.30387	-0.9980	9	0.25106	T	0.35	.	3.7756	0.08659	0.0:0.7523:0.0:0.2477	.	178	Q8N831	TSYL6_HUMAN	T	178	ENSP00000417919:R178T	ENSP00000417919:R178T	R	-	2	0	TSPYL6	54336260	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-0.615000	0.05597	0.184000	0.20083	0.313000	0.20887	AGA		0.617	TSPYL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324069.3		XM_371494		15	166	0	0	0	0.004007	0	15	166		
MCEE	84693	broad.mit.edu	37	2	71337220	71337220	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:71337220C>G	ENST00000244217.5	-	3	428	c.411G>C	c.(409-411)ttG>ttC	p.L137F	MCEE_ENST00000462609.2_5'UTR	NM_032601.3	NP_115990.3	Q96PE7	MCEE_HUMAN	methylmalonyl CoA epimerase	137					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|L-methylmalonyl-CoA metabolic process (GO:0046491)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	metal ion binding (GO:0046872)|methylmalonyl-CoA epimerase activity (GO:0004493)			kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						TCTTTTTTTTCAAATCCATCA	0.353																																						uc002shs.2		NaN																	0				ovary(1)	1						c.(409-411)TTG>TTC		methylmalonyl CoA epimerase precursor							120.0	116.0	118.0					2																	71337220		2203	4300	6503	SO:0001583	missense	84693				fatty acid beta-oxidation|L-methylmalonyl-CoA metabolic process	mitochondrial matrix	methylmalonyl-CoA epimerase activity	g.chr2:71337220C>G	AF364547	CCDS1915.1	2p13.3	2011-05-12			ENSG00000124370	ENSG00000124370	5.1.99.1		16732	protein-coding gene	gene with protein product	"""glyoxalase domain containing 2"""	608419				16697227, 16752391, 16843692	Standard	NM_032601		Approved	GLOD2	uc002shs.2	Q96PE7	OTTHUMG00000129709	ENST00000244217.5:c.411G>C	2.37:g.71337220C>G	ENSP00000244217:p.Leu137Phe						p.L137F	NM_032601	NP_115990	Q96PE7	MCEE_HUMAN			3	456	-			137					Q53TP1|Q8WW63	Missense_Mutation	SNP	ENST00000244217.5	37	c.411G>C	CCDS1915.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.015386	0.54468	.	.	ENSG00000124370	ENST00000413592;ENST00000244217	D;T	0.86097	-2.07;-0.68	5.62	2.82	0.32997	Glyoxalase/fosfomycin resistance/dioxygenase (1);	0.069710	0.64402	D	0.000018	D	0.91838	0.7417	M	0.87827	2.91	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.91353	0.5106	10	0.62326	D	0.03	-18.4272	9.8587	0.41101	0.0:0.7586:0.0:0.2414	.	137	Q96PE7	MCEE_HUMAN	F	39;137	ENSP00000391140:L39F;ENSP00000244217:L137F	ENSP00000244217:L137F	L	-	3	2	MCEE	71190728	1.000000	0.71417	0.548000	0.28192	0.505000	0.33919	2.425000	0.44723	0.864000	0.35578	0.561000	0.74099	TTG		0.353	MCEE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251917.3		NM_032601		8	42	0	0	0	0.006214	0	8	42		
FBXO41	150726	broad.mit.edu	37	2	73493771	73493771	+	Silent	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:73493771C>T	ENST00000521871.1	-	3	1360	c.945G>A	c.(943-945)gcG>gcA	p.A315A	FBXO41_ENST00000520530.2_Silent_p.A315A|FBXO41_ENST00000295133.5_Silent_p.A376A			Q8TF61	FBX41_HUMAN	F-box protein 41	315										breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						CCTCCCGCGCCGCCGTCTCCT	0.667																																						uc002sjb.1		NaN																	0				breast(2)|pancreas(1)	3						c.(1126-1128)GCG>GCA		F-box protein 41							31.0	35.0	33.0					2																	73493771		2020	4176	6196	SO:0001819	synonymous_variant	150726					intracellular	protein binding|zinc ion binding	g.chr2:73493771C>T	AB075820	CCDS46337.1, CCDS46337.2	2p13.2	2004-08-24				ENSG00000163013		"""F-boxes /  ""other"""""	29409	protein-coding gene	gene with protein product		609108				11853319	Standard	NM_001080410		Approved	KIAA1940, Fbx41	uc021vjh.1	Q8TF61		ENST00000521871.1:c.945G>A	2.37:g.73493771C>T							p.A376A	NM_001080410	NP_001073879	Q8TF61	FBX41_HUMAN			3	1128	-			315			Potential.		G3V0Z7|Q2M1V8	Silent	SNP	ENST00000521871.1	37	c.1128G>A	CCDS46337.2																																																																																				0.667	FBXO41-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377381.1				7	77	0	0	0	0.00308	0	7	77		
GCFC2	6936	broad.mit.edu	37	2	75917840	75917840	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:75917840C>T	ENST00000321027.3	-	8	1283	c.1150G>A	c.(1150-1152)Gat>Aat	p.D384N	MRPL19_ENST00000358788.6_3'UTR|GCFC2_ENST00000409857.3_Missense_Mutation_p.D346N|GCFC2_ENST00000541687.1_3'UTR	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCFC2_HUMAN	GC-rich sequence DNA-binding factor 2	384					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)										GATGTCTCATCTTTGCCTGTT	0.289																																						uc002sno.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1150-1152)GAT>AAT		hypothetical protein LOC6936							78.0	85.0	83.0					2																	75917840		2202	4296	6498	SO:0001583	missense	6936				negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:75917840C>T	AB026911	CCDS1961.1, CCDS62943.1	2p12	2014-01-17	2011-11-24	2011-11-24	ENSG00000005436	ENSG00000005436			1317	protein-coding gene	gene with protein product	"""GC binding factor"""	189901	"""transcription factor 9 (binds GC-rich sequences)"", ""chromosome 2 open reading frame 3"""	TCF9, C2orf3		1370479, 2556218, 17309879, 24304693	Standard	NM_003203		Approved	DNABF, GCF	uc002sno.3	P16383	OTTHUMG00000129989	ENST00000321027.3:c.1150G>A	2.37:g.75917840C>T	ENSP00000318690:p.Asp384Asn					C2orf3_uc010ffs.2_5'UTR|C2orf3_uc002snn.2_Missense_Mutation_p.D215N|C2orf3_uc010fft.2_Missense_Mutation_p.D59N	p.D384N	NM_003203	NP_003194	P16383	GCF_HUMAN			8	1280	-			384					A4UHQ8|O95032|Q53TY0|Q6P2F2	Missense_Mutation	SNP	ENST00000321027.3	37	c.1150G>A	CCDS1961.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.533913	0.00951	.	.	ENSG00000005436	ENST00000321027;ENST00000409857	T;T	0.14640	2.49;2.51	4.62	1.79	0.24919	.	1.014750	0.07869	N	0.967577	T	0.07413	0.0187	N	0.19112	0.55	0.80722	D	1	B	0.22851	0.076	B	0.20384	0.029	T	0.34428	-0.9829	10	0.16896	T	0.51	0.0667	2.094	0.03663	0.1593:0.5056:0.155:0.1802	.	384	P16383	GCF_HUMAN	N	384;346	ENSP00000318690:D384N;ENSP00000386552:D346N	ENSP00000318690:D384N	D	-	1	0	C2orf3	75771348	0.729000	0.28090	0.985000	0.45067	0.111000	0.19643	-0.016000	0.12613	0.245000	0.21373	0.555000	0.69702	GAT		0.289	GCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252255.2		NM_003203		19	163	0	0	0	0.007413	0	19	163		
LRP2	4036	broad.mit.edu	37	2	170063207	170063207	+	Silent	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:170063207G>C	ENST00000263816.3	-	39	7308	c.7023C>G	c.(7021-7023)gtC>gtG	p.V2341V		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2341					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	GGTTGTTGTTGACCTCTGCTG	0.507																																						uc002ues.2		NaN																	0				ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(7021-7023)GTC>GTG		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						120.0	113.0	115.0					2																	170063207		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170063207G>C		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.7023C>G	2.37:g.170063207G>C							p.V2341V	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	39	7236	-			2341			Extracellular (Potential).		O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.7023C>G	CCDS2232.1																																																																																				0.507	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2		NM_004525		9	59	0	0	0	0.006214	0	9	59		
AGPS	8540	broad.mit.edu	37	2	178346824	178346824	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:178346824C>G	ENST00000264167.4	+	11	1289	c.1143C>G	c.(1141-1143)atC>atG	p.I381M	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	381	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|lipid biosynthetic process (GO:0008610)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	alkylglycerone-phosphate synthase activity (GO:0008609)|FAD binding (GO:0071949)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			CAATAAAAATCAGACCAGTCC	0.338																																						uc002ull.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1141-1143)ATC>ATG		alkyldihydroxyacetone phosphate synthase							56.0	61.0	59.0					2																	178346824		2202	4297	6499	SO:0001583	missense	8540				ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity	g.chr2:178346824C>G	Y09443	CCDS2275.1	2q	2008-02-05			ENSG00000018510	ENSG00000018510	2.5.1.26		327	protein-coding gene	gene with protein product		603051				9187299, 9553082	Standard	NM_003659		Approved	ADHAPS, ADAS, ALDHPSY, ADPS, ADAP-S	uc002ull.2	O00116	OTTHUMG00000132530	ENST00000264167.4:c.1143C>G	2.37:g.178346824C>G	ENSP00000264167:p.Ile381Met					AGPS_uc010zfb.1_Missense_Mutation_p.I291M	p.I381M	NM_003659	NP_003650	O00116	ADAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)		11	1190	+			381			FAD-binding PCMH-type.		A5D8U9|Q2TU35	Missense_Mutation	SNP	ENST00000264167.4	37	c.1143C>G	CCDS2275.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.082569	0.55861	.	.	ENSG00000018510	ENST00000264167;ENST00000536686	D	0.82893	-1.66	4.77	3.9	0.45041	FAD-linked oxidase, FAD-binding, subdomain 2 (1);FAD-binding, type 2 (2);FAD-linked oxidase-like, C-terminal (1);	0.048728	0.85682	D	0.000000	D	0.91597	0.7345	M	0.92459	3.31	0.80722	D	1	D	0.71674	0.998	D	0.70227	0.968	D	0.91657	0.5339	10	0.87932	D	0	.	9.1136	0.36744	0.0:0.8202:0.0:0.1798	.	381	O00116	ADAS_HUMAN	M	381;251	ENSP00000264167:I381M	ENSP00000264167:I381M	I	+	3	3	AGPS	178055070	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.020000	0.41010	1.012000	0.39366	0.585000	0.79938	ATC		0.338	AGPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255730.2				10	47	0	0	0	0.008291	0	10	47		
TTN	7273	broad.mit.edu	37	2	179474920	179474920	+	Silent	SNP	G	G	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:179474920G>T	ENST00000591111.1	-	221	46634	c.46410C>A	c.(46408-46410)ctC>ctA	p.L15470L	TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Silent_p.L17111L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Silent_p.L8238L|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.L14543L|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.L8171L|TTN_ENST00000460472.2_Silent_p.L8046L			Q8WZ42	TITIN_HUMAN	titin	15470	Fibronectin type-III 12. {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)			CATTTGGTATGAGATCCTTCA	0.418																																						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.(43627-43629)CTC>CTA		titin isoform N2-A							166.0	162.0	163.0					2																	179474920		1929	4143	6072	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179474920G>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.46410C>A	2.37:g.179474920G>T						uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.L8238L|TTN_uc010zfi.1_Silent_p.L8171L|TTN_uc010zfj.1_Silent_p.L8046L	p.L14543L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		220	43853	-			15470					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.43629C>A																																																																																					0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		27	220	1	0	5.61819e-17	0.005443	6.33787e-17	27	220		
TTN	7273	broad.mit.edu	37	2	179640747	179640747	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:179640747C>G	ENST00000591111.1	-	28	6068	c.5844G>C	c.(5842-5844)gaG>gaC	p.E1948D	TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E1948D|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E1902D|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E1948D|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E1902D|TTN_ENST00000460472.2_Missense_Mutation_p.E1902D|TTN_ENST00000360870.5_Missense_Mutation_p.E1948D			Q8WZ42	TITIN_HUMAN	titin	12775					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)			GTACGTGAAACTCAGGCCTTG	0.423																																						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.(5842-5844)GAG>GAC		titin isoform N2-A							172.0	178.0	176.0					2																	179640747		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179640747C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.5844G>C	2.37:g.179640747C>G	ENSP00000465570:p.Glu1948Asp					TTN_uc010zfh.1_Missense_Mutation_p.E1902D|TTN_uc010zfi.1_Missense_Mutation_p.E1902D|TTN_uc010zfj.1_Missense_Mutation_p.E1902D|TTN_uc002unb.2_Missense_Mutation_p.E1948D|uc002unc.1_5'Flank	p.E1948D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		28	6068	-			1948					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.5844G>C		.	.	.	.	.	.	.	.	.	.	C	4.651	0.121093	0.08881	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.62105	0.05;0.29;0.27;0.26;0.37	5.1	2.79	0.32731	Ribonuclease H-like (1);	.	.	.	.	T	0.58892	0.2154	N	0.14661	0.345	0.22142	N	0.999335	P;P;P;P;D	0.69078	0.952;0.952;0.952;0.952;0.997	B;B;B;B;D	0.64042	0.315;0.315;0.315;0.315;0.921	T	0.48364	-0.9042	9	0.87932	D	0	.	7.1313	0.25502	0.0:0.4188:0.0:0.5812	.	1902;1902;1902;1948;1948	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	D	1948;1902;1902;1902;1902;1948	ENSP00000343764:E1948D;ENSP00000434586:E1902D;ENSP00000340554:E1902D;ENSP00000352154:E1902D;ENSP00000354117:E1948D	ENSP00000340554:E1902D	E	-	3	2	TTN	179348992	1.000000	0.71417	0.997000	0.53966	0.676000	0.39594	0.910000	0.28571	0.454000	0.26884	-0.466000	0.05196	GAG		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		18	261	0	0	0	0.008871	0	18	261		
NCKAP1	10787	broad.mit.edu	37	2	183817542	183817542	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:183817542C>T	ENST00000361354.4	-	22	2854	c.2482G>A	c.(2482-2484)Gag>Aag	p.E828K	NCKAP1_ENST00000360982.2_Missense_Mutation_p.E834K	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	828					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GAATATTCCTCTGCATTGAAT	0.338																																						uc002upc.2		NaN																	0				ovary(2)	2						c.(2482-2484)GAG>AAG		NCK-associated protein 1 isoform 1							98.0	92.0	94.0					2																	183817542		2202	4300	6502	SO:0001583	missense	10787				apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	g.chr2:183817542C>T	AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.2482G>A	2.37:g.183817542C>T	ENSP00000355348:p.Glu828Lys					NCKAP1_uc002upb.2_Missense_Mutation_p.E834K	p.E828K	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		22	2884	-			828					O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	37	c.2482G>A	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	C	35	5.572541	0.96553	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.38240	1.15;1.15	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.66790	0.2825	M	0.85710	2.77	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.74023	0.982;0.969	T	0.70876	-0.4753	10	0.87932	D	0	-14.6602	19.9859	0.97351	0.0:1.0:0.0:0.0	.	828;834	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	K	828;834	ENSP00000355348:E828K;ENSP00000354251:E834K	ENSP00000354251:E834K	E	-	1	0	NCKAP1	183525787	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.734000	0.84928	2.729000	0.93468	0.655000	0.94253	GAG		0.338	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2		NM_205842		9	44	0	0	0	0.008291	0	9	44		
PMS1	5378	broad.mit.edu	37	2	190728630	190728630	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:190728630C>G	ENST00000441310.2	+	10	2251	c.2018C>G	c.(2017-2019)tCt>tGt	p.S673C	PMS1_ENST00000418224.3_Missense_Mutation_p.S497C|PMS1_ENST00000432292.3_Missense_Mutation_p.S497C|PMS1_ENST00000447232.2_Intron|PMS1_ENST00000409823.3_Missense_Mutation_p.S634C|PMS1_ENST00000421722.1_3'UTR	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	673					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			ACCTCATTATCTAATCAACCA	0.358			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)																														uc002urh.3		NaN	yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	Mis|N	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)			E		colorectal|endometrial|ovarian			0				ovary(2)|kidney(1)|central_nervous_system(1)	4						c.(2017-2019)TCT>TGT	Direct_reversal_of_damage|MMR	postmeiotic segregation 1 isoform a							90.0	96.0	94.0					2																	190728630		2203	4300	6503	SO:0001583	missense	5378				mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding	g.chr2:190728630C>G		CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"""postmeiotic segregation increased (S. cerevisiae) 1"""	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.2018C>G	2.37:g.190728630C>G	ENSP00000406490:p.Ser673Cys					PMS1_uc010zga.1_3'UTR|PMS1_uc010zgb.1_Missense_Mutation_p.S612C|PMS1_uc002urk.3_Missense_Mutation_p.S634C|PMS1_uc002uri.3_Intron|PMS1_uc010zgc.1_Missense_Mutation_p.S497C|PMS1_uc010zgd.1_Missense_Mutation_p.S497C|PMS1_uc002urj.2_RNA|PMS1_uc010fry.1_Missense_Mutation_p.S634C|PMS1_uc010frz.2_Intron|PMS1_uc002url.2_Intron|PMS1_uc002urm.2_RNA|PMS1_uc002urn.1_Missense_Mutation_p.S341C	p.S673C	NM_000534	NP_000525	P54277	PMS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)		10	2547	+			673					D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Missense_Mutation	SNP	ENST00000441310.2	37	c.2018C>G	CCDS2302.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.709487	0.48517	.	.	ENSG00000064933	ENST00000392338;ENST00000441310;ENST00000418224;ENST00000409823;ENST00000432292;ENST00000424307;ENST00000452382	T;T;T;T;D;T	0.89050	1.76;1.76;1.76;1.76;-2.46;1.19	5.25	5.25	0.73442	.	0.331261	0.37136	N	0.002226	D	0.86632	0.5979	L	0.56769	1.78	0.31728	N	0.637461	B;B;B;B	0.25169	0.119;0.043;0.099;0.119	B;B;B;B	0.23018	0.041;0.027;0.043;0.041	D	0.85532	0.1210	10	0.42905	T	0.14	-2.7459	14.6768	0.68986	0.0:0.8552:0.1448:0.0	.	673;634;634;673	Q4VAL4;Q5FBZ9;Q5FBZ3;P54277	.;.;.;PMS1_HUMAN	C	497;673;497;634;497;612;61	ENSP00000406490:S673C;ENSP00000404492:S497C;ENSP00000387125:S634C;ENSP00000398378:S497C;ENSP00000389938:S612C;ENSP00000396232:S61C	ENSP00000376149:S497C	S	+	2	0	PMS1	190436875	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.905000	0.56333	2.750000	0.94351	0.644000	0.83932	TCT		0.358	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255918.2				13	117	0	0	0	0.001855	0	13	117		
CCDC150	284992	broad.mit.edu	37	2	197521488	197521488	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:197521488G>A	ENST00000389175.4	+	3	443	c.308G>A	c.(307-309)cGa>cAa	p.R103Q	CCDC150_ENST00000272831.7_Intron|CCDC150_ENST00000472405.2_5'UTR|CCDC150_ENST00000423093.2_Intron	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	103								p.R103Q(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CTGGTAAATCGAATGTGCCGT	0.398																																						uc002utp.1		NaN																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(307-309)CGA>CAA		coiled-coil domain containing 150							121.0	116.0	118.0					2																	197521488		1844	4102	5946	SO:0001583	missense	284992							g.chr2:197521488G>A		CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.308G>A	2.37:g.197521488G>A	ENSP00000373827:p.Arg103Gln					CCDC150_uc002uto.1_Missense_Mutation_p.R103Q|CCDC150_uc010zgq.1_RNA|CCDC150_uc010zgr.1_Intron|CCDC150_uc010zgs.1_Intron	p.R103Q	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN			3	443	+			103					Q6P5U6|Q6P663|Q8N8V5	Missense_Mutation	SNP	ENST00000389175.4	37	c.308G>A	CCDS46478.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876758	0.91664	.	.	ENSG00000144395	ENST00000389175;ENST00000536389	T	0.30714	1.52	5.03	5.03	0.67393	.	0.087795	0.45606	D	0.000345	T	0.54711	0.1875	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.53222	-0.8469	10	0.48119	T	0.1	-7.239	17.3013	0.87183	0.0:0.0:1.0:0.0	.	103;103	Q8NCX0;F5H6M2	CC150_HUMAN;.	Q	103	ENSP00000373827:R103Q	ENSP00000373827:R103Q	R	+	2	0	CCDC150	197229733	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.421000	0.59848	2.632000	0.89209	0.655000	0.94253	CGA		0.398	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2		NM_001080539		29	65	0	0	0	0.008361	0	29	65		
BOLL	66037	broad.mit.edu	37	2	198607796	198607796	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:198607796C>G	ENST00000392296.4	-	10	1126	c.817G>C	c.(817-819)Gag>Cag	p.E273Q	BOLL_ENST00000433157.1_Missense_Mutation_p.E273Q|BOLL_ENST00000430004.1_Missense_Mutation_p.E295Q|BOLL_ENST00000321801.7_Missense_Mutation_p.E285Q|AC011997.1_ENST00000409845.1_Intron|BOLL_ENST00000282278.8_Missense_Mutation_p.E164Q	NM_033030.5	NP_149019.1	Q8N9W6	BOLL_HUMAN	boule-like RNA-binding protein	273					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|positive regulation of translational initiation (GO:0045948)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|translation activator activity (GO:0008494)			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						TTAATTGGCTCAGGCTGCATC	0.358																																						uc002uus.2		NaN																	0				ovary(2)	2						c.(817-819)GAG>CAG		boule isoform 2							64.0	64.0	64.0					2																	198607796		2203	4300	6503	SO:0001583	missense	66037				cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	nucleotide binding|protein binding|RNA binding|translation activator activity	g.chr2:198607796C>G		CCDS2324.1, CCDS2325.1, CCDS63081.1	2q33	2013-10-17	2013-10-17		ENSG00000152430	ENSG00000152430		"""RNA binding motif (RRM) containing"""	14273	protein-coding gene	gene with protein product		606165	"""bol (Drosophila boule homolog)-like"", ""bol, boule-like (Drosophila)"""			11390979, 16001084	Standard	NM_197970		Approved	BOULE	uc002uut.2	Q8N9W6	OTTHUMG00000132747	ENST00000392296.4:c.817G>C	2.37:g.198607796C>G	ENSP00000376116:p.Glu273Gln					uc002uup.2_Intron|BOLL_uc002uur.2_Missense_Mutation_p.E279Q|BOLL_uc002uut.2_Missense_Mutation_p.E285Q|BOLL_uc010zha.1_Missense_Mutation_p.E164Q|BOLL_uc002uuu.1_Missense_Mutation_p.E301Q	p.E273Q	NM_033030	NP_149019	Q8N9W6	BOLL_HUMAN			10	1127	-			273					B4DZA4|Q0JW32|Q53T62|Q969U3	Missense_Mutation	SNP	ENST00000392296.4	37	c.817G>C	CCDS2325.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.840627	0.51057	.	.	ENSG00000152430	ENST00000430004;ENST00000392296;ENST00000321801;ENST00000282278;ENST00000433157	T;T;T;T	0.31769	1.48;1.84;1.84;1.84	5.36	5.36	0.76844	.	0.222050	0.38605	N	0.001628	T	0.28167	0.0695	N	0.14661	0.345	0.27464	N	0.953075	P;D;P;P;P	0.58268	0.873;0.982;0.873;0.608;0.728	B;P;B;B;B	0.52598	0.385;0.703;0.306;0.156;0.23	T	0.11036	-1.0604	10	0.66056	D	0.02	0.0298	11.7101	0.51620	0.0:0.9176:0.0:0.0824	.	164;301;285;273;279	B4DZA4;Q8N9W6-2;Q8N9W6-3;Q8N9W6;Q8N9W6-4	.;.;.;BOLL_HUMAN;.	Q	295;273;285;164;273	ENSP00000397711:E295Q;ENSP00000376116:E273Q;ENSP00000314792:E285Q;ENSP00000396099:E273Q	ENSP00000282278:E164Q	E	-	1	0	BOLL	198316041	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.918000	0.48829	2.793000	0.96121	0.561000	0.74099	GAG		0.358	BOLL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256107.3		NM_033030		21	36	0	0	0	0.012319	0	21	36		
PARD3B	117583	broad.mit.edu	37	2	205969201	205969201	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:205969201G>C	ENST00000406610.2	+	5	763	c.556G>C	c.(556-558)Gaa>Caa	p.E186Q	PARD3B_ENST00000462231.1_Missense_Mutation_p.E186Q|PARD3B_ENST00000349953.3_Missense_Mutation_p.E186Q|PARD3B_ENST00000351153.1_Missense_Mutation_p.E186Q|PARD3B_ENST00000358768.2_Missense_Mutation_p.E186Q	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	186					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TGTACAGACAGAACTACTAAC	0.338																																						uc002var.1		NaN																	0				skin(2)|ovary(1)|breast(1)	4						c.(556-558)GAA>CAA		par-3 partitioning defective 3 homolog B isoform							137.0	134.0	135.0					2																	205969201		1844	4100	5944	SO:0001583	missense	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:205969201G>C	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.556G>C	2.37:g.205969201G>C	ENSP00000385848:p.Glu186Gln					PARD3B_uc010fub.1_Missense_Mutation_p.E186Q|PARD3B_uc002vao.1_Missense_Mutation_p.E186Q|PARD3B_uc002vap.1_Missense_Mutation_p.E186Q|PARD3B_uc002vaq.1_Missense_Mutation_p.E186Q	p.E186Q	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	5	763	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	186					E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	ENST00000406610.2	37	c.556G>C		.	.	.	.	.	.	.	.	.	.	G	8.665	0.901577	0.17760	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953	T;T;T;T	0.17691	2.26;2.26;2.26;2.26	5.38	5.38	0.77491	PDZ/DHR/GLGF (1);	0.430704	0.24623	N	0.036942	T	0.11836	0.0288	N	0.16478	0.41	0.27128	N	0.961975	B;B;B;B;B	0.23990	0.095;0.021;0.015;0.009;0.026	B;B;B;B;B	0.23419	0.046;0.011;0.009;0.01;0.031	T	0.16305	-1.0407	10	0.23302	T	0.38	.	14.9719	0.71241	0.0:0.0:1.0:0.0	.	186;186;186;186;186	Q8TEW8-3;Q8TEW8;E9PE87;Q8TEW8-2;Q8TEW8-5	.;PAR3L_HUMAN;.;.;.	Q	186	ENSP00000385848:E186Q;ENSP00000351618:E186Q;ENSP00000317261:E186Q;ENSP00000340280:E186Q	ENSP00000340280:E186Q	E	+	1	0	PARD3B	205677446	1.000000	0.71417	0.815000	0.32552	0.211000	0.24417	4.431000	0.59915	2.668000	0.90789	0.591000	0.81541	GAA		0.338	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1		NM_057177		29	128	0	0	0	0.010818	0	29	128		
PROCR	10544	broad.mit.edu	37	20	33762599	33762599	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr20:33762599G>A	ENST00000216968.4	+	2	247	c.165G>A	c.(163-165)acG>acA	p.T55T	EDEM2_ENST00000540582.1_Intron	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	protein C receptor, endothelial	55					antigen processing and presentation (GO:0019882)|blood coagulation (GO:0007596)|immune response (GO:0006955)|negative regulation of coagulation (GO:0050819)	cell surface (GO:0009986)|centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	GACACCTAACGCACGTGCTGG	0.627																																						uc002xbt.2		NaN																	0					0						c.(163-165)ACG>ACA		endothelial protein C receptor precursor	Drotrecogin alfa(DB00055)						98.0	76.0	84.0					20																	33762599		2203	4300	6503	SO:0001819	synonymous_variant	10544				antigen processing and presentation|blood coagulation|immune response	integral to plasma membrane|MHC class I protein complex	receptor activity	g.chr20:33762599G>A	L35545	CCDS13248.1	20q11.2	2010-05-04	2010-05-04		ENSG00000101000	ENSG00000101000		"""CD molecules"""	9452	protein-coding gene	gene with protein product		600646				7929370, 10518938	Standard	NM_006404		Approved	EPCR, CCD41, CD201	uc002xbt.3	Q9UNN8	OTTHUMG00000032323	ENST00000216968.4:c.165G>A	20.37:g.33762599G>A						EDEM2_uc010zuv.1_Intron|PROCR_uc010zuw.1_Silent_p.T92T	p.T55T	NM_006404	NP_006395	Q9UNN8	EPCR_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0152)		2	349	+			55			Extracellular (Potential).		B2RC04|Q14218|Q6IB56|Q96CB3|Q9ULX1	Silent	SNP	ENST00000216968.4	37	c.165G>A	CCDS13248.1																																																																																				0.627	PROCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078843.3				7	110	0	0	0	0.001984	0	7	110		
RALGAPB	57148	broad.mit.edu	37	20	37153561	37153561	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr20:37153561C>A	ENST00000262879.6	+	11	2044	c.1760C>A	c.(1759-1761)tCa>tAa	p.S587*	RALGAPB_ENST00000397040.1_Nonsense_Mutation_p.S587*|RALGAPB_ENST00000397038.1_Nonsense_Mutation_p.S365*|RALGAPB_ENST00000397042.3_Nonsense_Mutation_p.S587*			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	587					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TACTTTATTTCAGCTCTTGAA	0.433																																						uc002xiw.2		NaN																	0				pancreas(1)|skin(1)	2						c.(1759-1761)TCA>TAA		Ral GTPase activating protein, beta subunit							288.0	265.0	273.0					20																	37153561		2203	4300	6503	SO:0001587	stop_gained	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37153561C>A	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1760C>A	20.37:g.37153561C>A	ENSP00000262879:p.Ser587*					RALGAPB_uc010zvz.1_3'UTR|RALGAPB_uc002xix.2_Nonsense_Mutation_p.S587*|RALGAPB_uc002xiy.1_Nonsense_Mutation_p.S587*|RALGAPB_uc002xiz.2_Nonsense_Mutation_p.S365*|RALGAPB_uc002xja.1_Nonsense_Mutation_p.S314*	p.S587*	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN			11	2017	+			587					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Nonsense_Mutation	SNP	ENST00000262879.6	37	c.1760C>A	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	C	45	11.963641	0.99622	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000397038;ENST00000397040;ENST00000438490	.	.	.	5.51	5.51	0.81932	.	0.058011	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	19.4189	0.94712	0.0:1.0:0.0:0.0	.	.	.	.	X	587;587;587;365;587;415	.	ENSP00000262879:S587X	S	+	2	0	RALGAPB	36586975	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.587000	0.87381	0.561000	0.74099	TCA		0.433	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1		NM_020336		55	275	1	0	3.8128e-34	0.00361	4.35521e-34	55	275		
SLC37A1	54020	broad.mit.edu	37	21	43938572	43938572	+	Missense_Mutation	SNP	G	G	A	rs201465099		TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr21:43938572G>A	ENST00000352133.2	+	2	990	c.8G>A	c.(7-9)cGa>cAa	p.R3Q	SLC37A1_ENST00000398341.3_Missense_Mutation_p.R3Q			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	3					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	transporter activity (GO:0005215)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						TAAATGGCTCGACTCCCCGCT	0.547																																						uc002zbi.2		NaN																	0					0						c.(7-9)CGA>CAA		solute carrier family 37 member 1							147.0	116.0	127.0					21																	43938572		2203	4300	6503	SO:0001583	missense	54020				carbohydrate transport|transmembrane transport	integral to membrane		g.chr21:43938572G>A	AJ269529	CCDS13689.1	21q22.3	2013-07-17	2013-07-17		ENSG00000160190	ENSG00000160190		"""Solute carriers"""	11024	protein-coding gene	gene with protein product		608094	"""solute carrier family 37 (glycerol-3-phosphate transporter), member 1"""			11112347	Standard	NM_018964		Approved		uc002zbi.3	P57057	OTTHUMG00000086803	ENST00000352133.2:c.8G>A	21.37:g.43938572G>A	ENSP00000344648:p.Arg3Gln					SLC37A1_uc002zbh.1_RNA|SLC37A1_uc002zbj.2_Missense_Mutation_p.R3Q	p.R3Q	NM_018964	NP_061837	P57057	GLPT_HUMAN			3	420	+			3					D3DSJ7|Q9HAQ1	Missense_Mutation	SNP	ENST00000352133.2	37	c.8G>A	CCDS13689.1	.	.	.	.	.	.	.	.	.	.	G	4.376	0.069415	0.08436	.	.	ENSG00000160190	ENST00000419522;ENST00000398341;ENST00000352133;ENST00000398343	T;T	0.22336	1.96;1.96	5.4	-6.91	0.01649	Major facilitator superfamily domain, general substrate transporter (1);	2.021330	0.02372	N	0.077987	T	0.08447	0.0210	N	0.11560	0.145	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20075	-1.0286	10	0.16420	T	0.52	-15.2487	3.0158	0.06059	0.2704:0.3826:0.2305:0.1164	.	3	P57057	GLPT_HUMAN	Q	3	ENSP00000381383:R3Q;ENSP00000344648:R3Q	ENSP00000344648:R3Q	R	+	2	0	SLC37A1	42811641	0.002000	0.14202	0.014000	0.15608	0.114000	0.19823	-0.638000	0.05452	-1.659000	0.01488	-1.847000	0.00572	CGA		0.547	SLC37A1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195377.1				30	80	0	0	0	0.002836	0	30	80		
PDE9A	5152	broad.mit.edu	37	21	44174150	44174150	+	Silent	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr21:44174150C>T	ENST00000291539.6	+	10	846	c.786C>T	c.(784-786)gaC>gaT	p.D262D	PDE9A_ENST00000335440.6_Silent_p.D160D|PDE9A_ENST00000398232.3_Silent_p.D195D|PDE9A_ENST00000398229.3_Silent_p.D128D|PDE9A_ENST00000335512.4_Silent_p.D202D|PDE9A_ENST00000380328.2_Silent_p.D209D|PDE9A_ENST00000349112.3_Silent_p.D134D|PDE9A_ENST00000398234.3_Silent_p.D161D|PDE9A_ENST00000398224.3_Silent_p.D135D|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398225.3_Silent_p.D221D|PDE9A_ENST00000398227.3_Silent_p.D102D|PDE9A_ENST00000539837.1_Silent_p.D134D|PDE9A_ENST00000328862.6_Silent_p.D236D|PDE9A_ENST00000398236.3_Silent_p.D176D	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	262					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)	p.D262D(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	CGACCTTTGACGTCTGGCTTT	0.627																																						uc002zbm.2		NaN																	1	Substitution - coding silent(1)		endometrium(1)	ovary(1)|skin(1)	2						c.(784-786)GAC>GAT		phosphodiesterase 9A isoform a							67.0	55.0	59.0					21																	44174150		2203	4300	6503	SO:0001819	synonymous_variant	5152				platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding	g.chr21:44174150C>T	AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"""Phosphodiesterases"""	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.786C>T	21.37:g.44174150C>T						PDE9A_uc002zbn.2_Silent_p.D135D|PDE9A_uc002zbo.2_Silent_p.D209D|PDE9A_uc002zbp.2_Silent_p.D55D|PDE9A_uc002zbq.2_Silent_p.D160D|PDE9A_uc002zbs.2_Silent_p.D55D|PDE9A_uc002zbr.2_Silent_p.D55D|PDE9A_uc002zbt.2_Silent_p.D134D|PDE9A_uc002zbu.2_Silent_p.D128D|PDE9A_uc002zbv.2_Silent_p.D102D|PDE9A_uc002zbw.2_Silent_p.D45D|PDE9A_uc002zbx.2_Silent_p.D202D|PDE9A_uc002zby.2_Silent_p.D45D|PDE9A_uc002zbz.2_Silent_p.D154D|PDE9A_uc002zca.2_Silent_p.D221D|PDE9A_uc002zcb.2_Silent_p.D236D|PDE9A_uc002zcc.2_Silent_p.D161D|PDE9A_uc002zcd.2_Silent_p.D176D|PDE9A_uc002zce.2_Silent_p.D195D|PDE9A_uc002zcf.2_Silent_p.D55D|PDE9A_uc002zcg.2_Silent_p.D55D|PDE9A_uc002zch.2_Silent_p.D45D|PDE9A_uc010gpf.1_Silent_p.D55D	p.D262D	NM_002606	NP_002597	O76083	PDE9A_HUMAN			10	849	+			262					B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	Silent	SNP	ENST00000291539.6	37	c.786C>T	CCDS13690.1																																																																																				0.627	PDE9A-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195466.1				7	56	0	0	0	0.004482	0	7	56		
CLTCL1	8218	broad.mit.edu	37	22	19175135	19175135	+	Missense_Mutation	SNP	G	G	T	rs547779543		TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr22:19175135G>T	ENST00000263200.10	-	29	4612	c.4540C>A	c.(4540-4542)Ctg>Atg	p.L1514M	CLTCL1_ENST00000353891.5_Intron|CLTCL1_ENST00000442042.2_Intron|CLTCL1_ENST00000427926.1_Missense_Mutation_p.L1514M	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1514	Heavy chain arm.|Involved in binding clathrin light chain. {ECO:0000250}.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					CCCTTGTACAGATAGGCCGCA	0.542			T	?	ALCL																																	uc002zpb.2		NaN		Dom	yes		22	22q11.21	8218	T	"""clathrin, heavy polypeptide-like 1"""			L	NaN		ALCL		0				ovary(4)|central_nervous_system(1)	5						c.(4540-4542)CTG>ATG		clathrin, heavy polypeptide-like 1 isoform 1							102.0	106.0	104.0					22																	19175135		2068	4202	6270	SO:0001583	missense	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19175135G>T		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.4540C>A	22.37:g.19175135G>T	ENSP00000445677:p.Leu1514Met					CLTCL1_uc011agv.1_Intron|CLTCL1_uc011agw.1_Missense_Mutation_p.L1493M|CLTCL1_uc011agt.1_Missense_Mutation_p.L305M|CLTCL1_uc011agu.1_Intron	p.L1514M	NM_007098	NP_009029	P53675	CLH2_HUMAN			30	4615	-	Colorectal(54;0.0993)		1514			Involved in binding clathrin light chain (By similarity).|Proximal segment.|Heavy chain arm.		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	c.4540C>A	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.610681	0.28712	.	.	ENSG00000070371	ENST00000263200;ENST00000427926	T;T	0.32515	1.45;1.45	3.97	1.72	0.24424	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000013	T	0.58133	0.2101	M	0.91140	3.18	0.49915	D	0.999831	D	0.76494	0.999	D	0.97110	1.0	T	0.63475	-0.6629	10	0.87932	D	0	-9.1365	8.7097	0.34376	0.2802:0.0:0.7198:0.0	.	1514	P53675	CLH2_HUMAN	M	1514	ENSP00000445677:L1514M;ENSP00000441158:L1514M	ENSP00000445677:L1514M	L	-	1	2	CLTCL1	17555135	1.000000	0.71417	0.594000	0.28785	0.004000	0.04260	3.499000	0.53310	0.886000	0.36113	-0.133000	0.14855	CTG		0.542	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5		NM_007098		15	115	1	0	4.14922e-12	0.004007	4.58598e-12	15	115		
MCM5	4174	broad.mit.edu	37	22	35808507	35808507	+	Silent	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr22:35808507C>T	ENST00000216122.4	+	8	1078	c.924C>T	c.(922-924)cgC>cgT	p.R308R	MCM5_ENST00000465557.1_3'UTR|MCM5_ENST00000382011.5_Silent_p.R265R	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	308					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						ACCAAGGCCGCAGCTTTGCTG	0.627																																						uc003anu.3		NaN																	0				ovary(1)	1						c.(922-924)CGC>CGT		minichromosome maintenance complex component 5							67.0	70.0	69.0					22																	35808507		2203	4300	6503	SO:0001819	synonymous_variant	4174				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr22:35808507C>T		CCDS13915.1	22q13.1-q13.2	2007-04-04	2007-04-04		ENSG00000100297	ENSG00000100297			6948	protein-coding gene	gene with protein product		602696	"""minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46)"", ""MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)"""	CDC46		8751386, 10591208	Standard	NM_006739		Approved		uc003anu.4	P33992	OTTHUMG00000150961	ENST00000216122.4:c.924C>T	22.37:g.35808507C>T						MCM5_uc010gwr.2_Silent_p.R117R|MCM5_uc003anv.3_Silent_p.R265R|MCM5_uc010gws.1_RNA|MCM5_uc003anw.1_Silent_p.R92R	p.R308R	NM_006739	NP_006730	P33992	MCM5_HUMAN			8	1018	+			308					O60785|Q14578|Q9BTJ4|Q9BWL8	Silent	SNP	ENST00000216122.4	37	c.924C>T	CCDS13915.1																																																																																				0.627	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320661.3				15	186	0	0	0	0.007413	0	15	186		
SYNGR1	9145	broad.mit.edu	37	22	39770522	39770522	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr22:39770522C>G	ENST00000328933.5	+	2	316	c.301C>G	c.(301-303)Cgc>Ggc	p.R101G	SYNGR1_ENST00000318801.4_Missense_Mutation_p.R101G|SYNGR1_ENST00000406293.3_Missense_Mutation_p.R101G|SYNGR1_ENST00000216155.7_Missense_Mutation_p.R101G|SYNGR1_ENST00000381535.4_Missense_Mutation_p.R102G	NM_004711.4	NP_004702.2	O43759	SNG1_HUMAN	synaptogyrin 1	101	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				protein targeting (GO:0006605)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle membrane (GO:0030672)				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	7	Melanoma(58;0.04)					CGTCAAGGACCGCAAGAAAGC	0.647																																						uc003axq.3		NaN																	0					0						c.(301-303)CGC>GGC		synaptogyrin 1 isoform 1a							116.0	79.0	91.0					22																	39770522		2203	4300	6503	SO:0001583	missense	9145				regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity	cell junction|integral to plasma membrane|melanosome		g.chr22:39770522C>G	AJ002303	CCDS13989.1, CCDS13990.1, CCDS13991.1	22q13	2008-06-10			ENSG00000100321	ENSG00000100321			11498	protein-coding gene	gene with protein product		603925				9760194, 10595519	Standard	NM_004711		Approved			O43759	OTTHUMG00000030978	ENST00000328933.5:c.301C>G	22.37:g.39770522C>G	ENSP00000332287:p.Arg101Gly					SYNGR1_uc003axo.3_Missense_Mutation_p.R101G|SYNGR1_uc003axp.3_Silent_p.T31T|TAB1_uc003axr.2_5'UTR|SYNGR1_uc003axs.3_Missense_Mutation_p.R102G	p.R101G	NM_004711	NP_004702	O43759	SNG1_HUMAN			2	363	+	Melanoma(58;0.04)		101			MARVEL.		A6NP69|A8K0E2|O43757|O43758|Q53Y02|Q96J56|Q9UGZ4	Missense_Mutation	SNP	ENST00000328933.5	37	c.301C>G	CCDS13989.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.784872	0.90282	.	.	ENSG00000100321	ENST00000318801;ENST00000216155;ENST00000406293;ENST00000328933;ENST00000381535	T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74	5.28	4.2	0.49525	Marvel (1);MARVEL-like domain (1);	0.052004	0.85682	D	0.000000	T	0.56775	0.2008	M	0.90759	3.145	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.996	D;D;P	0.70716	0.939;0.97;0.853	T	0.67345	-0.5694	10	0.87932	D	0	.	14.6619	0.68879	0.146:0.854:0.0:0.0	.	102;101;101	O43759-3;O43759;O43759-2	.;SNG1_HUMAN;.	G	101;101;101;101;102	ENSP00000318845:R101G;ENSP00000216155:R101G;ENSP00000385447:R101G;ENSP00000332287:R101G;ENSP00000370946:R102G	ENSP00000216155:R101G	R	+	1	0	SYNGR1	38100468	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	5.989000	0.70587	2.430000	0.82344	0.561000	0.74099	CGC		0.647	SYNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075866.2		NM_004711		13	174	0	0	0	0.00245	0	13	174		
MKL1	57591	broad.mit.edu	37	22	40814492	40814492	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr22:40814492G>A	ENST00000355630.3	-	12	2540	c.1950C>T	c.(1948-1950)atC>atT	p.I650I	MKL1_ENST00000402042.1_Silent_p.I600I|MKL1_ENST00000407029.1_Silent_p.I650I|MKL1_ENST00000396617.3_Silent_p.I650I	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	650	Pro-rich.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CAACCCCCTTGATGAGGCTGG	0.662			T	RBM15	acute megakaryocytic leukemia																																	uc003ayv.1		NaN		Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		0				ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(1948-1950)ATC>ATT		megakaryoblastic leukemia 1 protein							64.0	66.0	66.0					22																	40814492		2203	4300	6503	SO:0001819	synonymous_variant	57591				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	g.chr22:40814492G>A	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.1950C>T	22.37:g.40814492G>A						MKL1_uc003ayw.1_Silent_p.I650I|MKL1_uc010gye.1_Silent_p.I650I|MKL1_uc010gyf.1_Silent_p.I600I	p.I650I	NM_020831	NP_065882	Q969V6	MKL1_HUMAN			9	2157	-			650			Pro-rich.		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Silent	SNP	ENST00000355630.3	37	c.1950C>T	CCDS14003.1																																																																																				0.662	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1		NM_020831		9	142	0	0	0	0.006214	0	9	142		
SCN10A	6336	broad.mit.edu	37	3	38783971	38783971	+	Silent	SNP	A	A	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr3:38783971A>C	ENST00000449082.2	-	13	1916	c.1917T>G	c.(1915-1917)tcT>tcG	p.S639S		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	639					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GATACTTCTGAGACAAGCTGG	0.512																																						uc003ciq.2		NaN																	0				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10						c.(1915-1917)TCT>TCG		sodium channel, voltage-gated, type X, alpha	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						170.0	156.0	161.0					3																	38783971		2203	4300	6503	SO:0001819	synonymous_variant	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38783971A>C	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.1917T>G	3.37:g.38783971A>C							p.S639S	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	13	1917	-			639					A6NDQ1	Silent	SNP	ENST00000449082.2	37	c.1917T>G	CCDS33736.1																																																																																				0.512	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3		NM_006514		23	178	0	0	0	0.004656	0	23	178		
NDUFAF3	25915	broad.mit.edu	37	3	49063798	49063798	+	IGR	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr3:49063798C>T	ENST00000326925.6	+	0	2012				RP13-131K19.6_ENST00000607245.1_RNA|IMPDH2_ENST00000326739.4_Missense_Mutation_p.R322Q	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3						mitochondrial respiratory chain complex I assembly (GO:0032981)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						CATGCCCACCCGCAGGGCATC	0.527																																						uc003cvt.2		NaN																	0				lung(1)	1						c.(964-966)CGG>CAG		inosine monophosphate dehydrogenase 2	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)						70.0	60.0	63.0					3																	49063798		2203	4300	6503	SO:0001628	intergenic_variant	3615				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding	g.chr3:49063798C>T		CCDS2784.1, CCDS2785.1	3p21.31	2012-10-12	2012-05-08	2009-03-18	ENSG00000178057	ENSG00000178057		"""Mitochondrial respiratory chain complex assembly factors"""	29918	protein-coding gene	gene with protein product		612911	"""chromosome 3 open reading frame 60"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3"""	C3orf60		12653254, 9349717	Standard	NM_199069		Approved	MGC10527, DKFZP564J0123, E3-3, 2P1	uc003cvq.3	Q9BU61	OTTHUMG00000156773		3.37:g.49063798C>T							p.R322Q	NM_000884	NP_000875	P12268	IMDH2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	9	1057	-			322				IMP.		Missense_Mutation	SNP	ENST00000326925.6	37	c.965G>A	CCDS2784.1	.	.	.	.	.	.	.	.	.	.	C	34	5.371826	0.95923	.	.	ENSG00000178035	ENST00000537036;ENST00000326739	T	0.81078	-1.45	5.63	5.63	0.86233	Aldolase-type TIM barrel (1);IMP dehydrogenase / GMP reductase, conserved site (1);IMP dehydrogenase/GMP reductase (1);	0.000000	0.85682	D	0.000000	D	0.93074	0.7795	H	0.95611	3.695	0.80722	D	1	D	0.69078	0.997	D	0.70716	0.97	D	0.94628	0.7819	10	0.87932	D	0	-14.4132	19.6648	0.95889	0.0:1.0:0.0:0.0	.	322	P12268	IMDH2_HUMAN	Q	322	ENSP00000321584:R322Q	ENSP00000321584:R322Q	R	-	2	0	IMPDH2	49038802	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	7.675000	0.84002	2.651000	0.90000	0.655000	0.94253	CGG		0.527	NDUFAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345683.2		NM_199069		5	47	0	0	0	0.001168	0	5	47		
TLR9	54106	broad.mit.edu	37	3	52256140	52256140	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr3:52256140T>G	ENST00000360658.2	-	2	2825	c.2192A>C	c.(2191-2193)aAc>aCc	p.N731T	TLR9_ENST00000494383.1_Missense_Mutation_p.Q884H|TLR9_ENST00000597542.1_Missense_Mutation_p.N755T	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9	731					defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|maintenance of gastrointestinal epithelium (GO:0030277)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|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 synthase biosynthetic process (GO:0051770)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to molecule of bacterial origin (GO:0002237)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)|Hydroxychloroquine(DB01611)	GGCGCTAAGGTTGAGCTCTCG	0.617																																						uc003dda.1		NaN																	0				large_intestine(2)|skin(2)	4						c.(2191-2193)AAC>ACC		toll-like receptor 9 isoform A precursor	Chloroquine(DB00608)						60.0	61.0	61.0					3																	52256140		2203	4300	6503	SO:0001583	missense	54106				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|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 toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity	g.chr3:52256140T>G	AF259262	CCDS2848.1	3p21.3	2006-02-23			ENSG00000239732	ENSG00000239732		"""CD molecules"""	15633	protein-coding gene	gene with protein product		605474				11022119	Standard	NM_017442		Approved	CD289	uc003ddb.3	Q9NR96	OTTHUMG00000158106	ENST00000360658.2:c.2192A>C	3.37:g.52256140T>G	ENSP00000353874:p.Asn731Thr					TLR9_uc003ddb.2_Missense_Mutation_p.N828T	p.N731T	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	2	2826	-			731			LRR 25.|Extracellular (Potential).		B3Y661|D1CS56|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	Missense_Mutation	SNP	ENST00000360658.2	37	c.2192A>C	CCDS2848.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.87|13.87	2.367446|2.367446	0.42003|0.42003	.|.	.|.	ENSG00000239732|ENSG00000173366	ENST00000360658|ENST00000494383	T|.	0.60672|.	0.17|.	5.03|5.03	5.03|5.03	0.67393|0.67393	.|.	0.000000|.	0.40908|.	D|.	0.000990|.	T|T	0.58104|0.58104	0.2099|0.2099	L|L	0.51914|0.51914	1.62|1.62	0.39077|0.39077	D|D	0.960835|0.960835	P;D|.	0.89917|.	0.901;1.0|.	P;D|.	0.74023|.	0.71;0.982|.	T|T	0.59762|0.59762	-0.7393|-0.7393	10|5	0.35671|.	T|.	0.21|.	.|.	8.2398|8.2398	0.31654|0.31654	0.1776:0.0:0.0:0.8224|0.1776:0.0:0.0:0.8224	.|.	828;731|.	B4E0A1;Q9NR96|.	.;TLR9_HUMAN|.	T|H	731|884	ENSP00000353874:N731T|.	ENSP00000353874:N731T|.	N|Q	-|-	2|3	0|2	TLR9|RP11-330H6.5	52231180|52231180	0.789000|0.789000	0.28775|0.28775	1.000000|1.000000	0.80357|0.80357	0.241000|0.241000	0.25554|0.25554	0.923000|0.923000	0.28757|0.28757	1.887000|1.887000	0.54652|0.54652	0.379000|0.379000	0.24179|0.24179	AAC|CAA		0.617	TLR9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350203.1				14	139	0	0	0	0.00245	0	14	139		
SFMBT1	51460	broad.mit.edu	37	3	52962228	52962228	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr3:52962228G>A	ENST00000394752.3	-	9	1409	c.1027C>T	c.(1027-1029)Cta>Tta	p.L343L	SFMBT1_ENST00000296295.6_Silent_p.L343L|SFMBT1_ENST00000358080.2_Silent_p.L343L|SFMBT1_ENST00000394750.1_Silent_p.L343L	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	343					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)		CTGATGTGTAGGCCATTCTTC	0.522																																						uc003dgf.2		NaN																	0				ovary(1)	1						c.(1027-1029)CTA>TTA		Scm-like with four mbt domains 1							141.0	132.0	135.0					3																	52962228		2203	4300	6503	SO:0001819	synonymous_variant	51460				regulation of transcription, DNA-dependent	nucleus		g.chr3:52962228G>A	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.1027C>T	3.37:g.52962228G>A						SFMBT1_uc010hmr.2_Silent_p.L290L|SFMBT1_uc003dgg.2_Silent_p.L343L|SFMBT1_uc003dgh.2_Silent_p.L343L	p.L343L	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)	10	1596	-			343			MBT 3.		Q402F7|Q96C73|Q9Y4Q9	Silent	SNP	ENST00000394752.3	37	c.1027C>T	CCDS2867.1																																																																																				0.522	SFMBT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353040.3		NM_016329		18	179	0	0	0	0.010504	0	18	179		
CMSS1	84319	broad.mit.edu	37	3	99881159	99881159	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr3:99881159G>A	ENST00000421999.2	+	4	384	c.238G>A	c.(238-240)Gat>Aat	p.D80N	CMSS1_ENST00000489081.1_Missense_Mutation_p.D62N	NM_032359.3	NP_115735.2	Q9BQ75	CMS1_HUMAN	cms1 ribosomal small subunit homolog (yeast)	80							poly(A) RNA binding (GO:0044822)										GAAAATTACTGATGTTCTTGC	0.373																																						uc003dtl.2		NaN																	0				skin(1)	1						c.(238-240)GAT>AAT		hypothetical protein LOC84319							66.0	69.0	68.0					3																	99881159		2203	4300	6503	SO:0001583	missense	84319						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr3:99881159G>A		CCDS2935.1, CCDS54618.1	3q12.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000184220	ENSG00000184220			28666	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 26"""	C3orf26		12477932	Standard	NM_032359		Approved	MGC4308	uc003dtl.3	Q9BQ75	OTTHUMG00000159054	ENST00000421999.2:c.238G>A	3.37:g.99881159G>A	ENSP00000410396:p.Asp80Asn						p.D80N	NM_032359	NP_115735	Q9BQ75	CC026_HUMAN			4	381	+			80					A8K5S7|B4DUM1|E9PHS3	Missense_Mutation	SNP	ENST00000421999.2	37	c.238G>A	CCDS2935.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.916283	0.92249	.	.	ENSG00000184220	ENST00000421999;ENST00000489081;ENST00000478909	T;T;T	0.33216	1.42;1.42;1.42	5.83	5.83	0.93111	.	0.043669	0.85682	D	0.000000	T	0.56062	0.1960	M	0.73962	2.25	0.80722	D	1	D	0.63880	0.993	D	0.65323	0.934	T	0.52465	-0.8572	9	.	.	.	.	18.6822	0.91549	0.0:0.0:1.0:0.0	.	80	Q9BQ75	CC026_HUMAN	N	80;62;36	ENSP00000410396:D80N;ENSP00000419161:D62N;ENSP00000417293:D36N	.	D	+	1	0	C3orf26	101363849	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.353000	0.66034	2.769000	0.95229	0.655000	0.94253	GAT		0.373	CMSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353060.1		NM_032359		42	53	0	0	0	0.010771	0	42	53		
RAB6B	51560	broad.mit.edu	37	3	133614283	133614283	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr3:133614283G>A	ENST00000285208.4	-	1	377	c.28C>T	c.(28-30)Cca>Tca	p.P10S	RAB6B_ENST00000486858.1_5'UTR|RAB6B_ENST00000469959.1_Missense_Mutation_p.P10S|RAB6B_ENST00000543906.1_Missense_Mutation_p.P10S	NM_016577.3	NP_057661.3	Q9NRW1	RAB6B_HUMAN	RAB6B, member RAS oncogene family	10					GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	11						TTTCTCAGTGGATTCCCAAAA	0.607																																						uc003epy.2		NaN																	0				pancreas(1)	1						c.(28-30)CCA>TCA		RAB6B, member RAS oncogene family							65.0	64.0	64.0					3																	133614283		2203	4300	6503	SO:0001583	missense	51560				protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|Golgi membrane	GTP binding|GTPase activity|protein binding	g.chr3:133614283G>A	AF166492	CCDS3082.1	3q22.1	2008-05-15			ENSG00000154917	ENSG00000154917		"""RAB, member RAS oncogene"""	14902	protein-coding gene	gene with protein product		615852					Standard	NM_016577		Approved		uc003epy.3	Q9NRW1	OTTHUMG00000159749	ENST00000285208.4:c.28C>T	3.37:g.133614283G>A	ENSP00000285208:p.Pro10Ser					RAB6B_uc011blu.1_5'UTR	p.P10S	NM_016577	NP_057661	Q9NRW1	RAB6B_HUMAN			1	409	-			10					B2R5Z9|B7Z337|D3DND3|Q92929	Missense_Mutation	SNP	ENST00000285208.4	37	c.28C>T	CCDS3082.1	.	.	.	.	.	.	.	.	.	.	g	15.62	2.888385	0.52014	.	.	ENSG00000154917	ENST00000285208;ENST00000543906;ENST00000469959	T;T	0.61742	0.08;0.08	3.46	2.58	0.30949	.	0.000000	0.64402	D	0.000001	T	0.39279	0.1072	N	0.20807	0.61	0.52099	D	0.99994	B	0.11235	0.004	B	0.06405	0.002	T	0.17471	-1.0368	10	0.45353	T	0.12	-4.1486	9.6195	0.39712	0.1082:0.0:0.8918:0.0	.	10	Q9NRW1	RAB6B_HUMAN	S	10	ENSP00000285208:P10S;ENSP00000437797:P10S	ENSP00000285208:P10S	P	-	1	0	RAB6B	135096973	1.000000	0.71417	0.939000	0.37840	0.968000	0.65278	6.342000	0.72982	0.637000	0.30526	0.457000	0.33378	CCA		0.607	RAB6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357152.1				7	85	0	0	0	0.004482	0	7	85		
NRROS	375387	broad.mit.edu	37	3	196387064	196387064	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr3:196387064C>T	ENST00000328557.4	+	3	753	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	184					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											GGAGCGTCTCCGGGAGCTGGA	0.632																																						uc003fwv.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(550-552)CGG>TGG		leucine rich repeat containing 33 precursor																																				SO:0001583	missense	375387					integral to membrane		g.chr3:196387064C>T	AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"""leucine rich repeat containing 33"""	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.550C>T	3.37:g.196387064C>T	ENSP00000328625:p.Arg184Trp						p.R184W	NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)	3	654	+	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		184			Extracellular (Potential).|LRR 6.			Missense_Mutation	SNP	ENST00000328557.4	37	c.550C>T	CCDS3319.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.100541	0.37048	.	.	ENSG00000174004	ENST00000328557	T	0.59083	0.29	6.17	-6.55	0.01854	.	0.676878	0.14558	N	0.312248	T	0.43478	0.1249	L	0.52206	1.635	0.09310	N	1	B	0.14012	0.009	B	0.12837	0.008	T	0.17137	-1.0379	10	0.52906	T	0.07	.	8.9568	0.35823	0.4447:0.4158:0.0624:0.0772	.	184	Q86YC3	LRC33_HUMAN	W	184	ENSP00000328625:R184W	ENSP00000328625:R184W	R	+	1	2	LRRC33	197871461	0.000000	0.05858	0.001000	0.08648	0.423000	0.31445	-0.664000	0.05292	-1.840000	0.01184	-0.169000	0.13324	CGG		0.632	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1		NM_198565		6	53	0	0	0	0.001984	0	6	53		
TMEM33	55161	broad.mit.edu	37	4	41941219	41941219	+	Silent	SNP	T	T	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr4:41941219T>C	ENST00000504986.1	+	3	512	c.147T>C	c.(145-147)caT>caC	p.H49H	TMEM33_ENST00000325094.5_Silent_p.H49H|TMEM33_ENST00000513702.1_Silent_p.H49H	NM_018126.2	NP_060596.2	P57088	TMM33_HUMAN	transmembrane protein 33	49						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)				endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9						GCAGGTTGCATGAAGCAGCAA	0.438																																						uc003gwi.2		NaN																	0				ovary(1)	1						c.(145-147)CAT>CAC		transmembrane protein 33							114.0	99.0	104.0					4																	41941219		2203	4300	6503	SO:0001819	synonymous_variant	55161					integral to membrane|melanosome	protein binding	g.chr4:41941219T>C	BC000948	CCDS3464.1	4p14	2008-02-05			ENSG00000109133	ENSG00000109133			25541	protein-coding gene	gene with protein product						12477932	Standard	NM_018126		Approved	FLJ10525	uc003gwi.2	P57088	OTTHUMG00000099381	ENST00000504986.1:c.147T>C	4.37:g.41941219T>C						TMEM33_uc010ifw.2_Intron	p.H49H	NM_018126	NP_060596	P57088	TMM33_HUMAN			3	512	+			49			Helical; (Potential).		B3KSS8|Q9H953	Silent	SNP	ENST00000504986.1	37	c.147T>C	CCDS3464.1																																																																																				0.438	TMEM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216834.2		NM_018126		10	101	0	0	0	0.008291	0	10	101		
CEP135	9662	broad.mit.edu	37	4	56818365	56818365	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr4:56818365G>C	ENST00000257287.4	+	2	193	c.69G>C	c.(67-69)caG>caC	p.Q23H	CEP135_ENST00000422247.2_Missense_Mutation_p.Q23H	NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	23					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					GATACCGCCAGACTCTGACAG	0.373																																						uc003hbi.2		NaN																	0				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(67-69)CAG>CAC		centrosome protein 4							62.0	65.0	64.0					4																	56818365		2203	4300	6503	SO:0001583	missense	9662				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	g.chr4:56818365G>C	AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.69G>C	4.37:g.56818365G>C	ENSP00000257287:p.Gln23His					CEP135_uc003hbh.1_Missense_Mutation_p.Q23H|CEP135_uc010igz.1_5'Flank	p.Q23H	NM_025009	NP_079285	Q66GS9	CP135_HUMAN			2	303	+	Glioma(25;0.08)|all_neural(26;0.101)		23					B2RMY0|O75130|Q58F25|Q9H8H7	Missense_Mutation	SNP	ENST00000257287.4	37	c.69G>C	CCDS33986.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.927995	0.52759	.	.	ENSG00000174799	ENST00000422247;ENST00000257287	T	0.52983	0.64	5.88	5.03	0.67393	.	0.117951	0.64402	N	0.000014	T	0.55433	0.1920	M	0.66378	2.025	0.54753	D	0.999982	P;B	0.51351	0.944;0.414	P;B	0.47470	0.548;0.188	T	0.60535	-0.7244	10	0.52906	T	0.07	.	16.6977	0.85340	0.0:0.2433:0.7567:0.0	.	23;23	Q66GS9;Q66GS9-2	CP135_HUMAN;.	H	23	ENSP00000257287:Q23H	ENSP00000257287:Q23H	Q	+	3	2	CEP135	56513122	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.848000	0.39309	1.477000	0.48234	-0.176000	0.13171	CAG		0.373	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2		NM_025009		10	107	0	0	0	0.010729	0	10	107		
CSN3	1448	broad.mit.edu	37	4	71114859	71114859	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr4:71114859C>T	ENST00000304954.3	+	4	318	c.232C>T	c.(232-234)Cgc>Tgc	p.R78C		NM_005212.2	NP_005203.2	Q9UNS2	CSN3_HUMAN	casein kappa	0					cullin deneddylation (GO:0010388)|in utero embryonic development (GO:0001701)|response to light stimulus (GO:0009416)|signal transduction (GO:0007165)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						ATATGTGCCTCGCACATATTA	0.448																																						uc003hfe.3		NaN																	0				ovary(2)|kidney(1)|central_nervous_system(1)	4						c.(232-234)CGC>TGC		casein kappa precursor							119.0	109.0	112.0					4																	71114859		2203	4300	6503	SO:0001583	missense	1448					extracellular region	protein binding	g.chr4:71114859C>T	U51899	CCDS3538.1	4q21.1	2014-02-19	2003-01-24	2003-01-31	ENSG00000171209	ENSG00000171209			2446	protein-coding gene	gene with protein product		601695	"""casein, kappa"""	CSN10		8863730, 9050925	Standard	NM_005212		Approved		uc003hfe.4	P07498	OTTHUMG00000129399	ENST00000304954.3:c.232C>T	4.37:g.71114859C>T	ENSP00000304822:p.Arg78Cys						p.R78C	NM_005212	NP_005203	P07498	CASK_HUMAN			4	290	+			78					B2R683|B4DY81|O43191|Q7LDR6	Missense_Mutation	SNP	ENST00000304954.3	37	c.232C>T	CCDS3538.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.467070	0.43839	.	.	ENSG00000171209	ENST00000304954	T	0.23147	1.92	4.38	-2.96	0.05547	.	1.499990	0.03679	N	0.245165	T	0.22085	0.0532	N	0.22421	0.69	0.09310	N	1	D	0.59357	0.985	P	0.48901	0.594	T	0.27191	-1.0081	10	0.87932	D	0	-3.3053	5.7624	0.18207	0.1624:0.1604:0.0:0.6772	.	78	P07498	CASK_HUMAN	C	78	ENSP00000304822:R78C	ENSP00000304822:R78C	R	+	1	0	CSN3	71149448	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.374000	0.07484	-0.521000	0.06426	-0.259000	0.10710	CGC		0.448	CSN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251555.1		NM_005212		9	91	0	0	0	0.004482	0	9	91		
SPATA5	166378	broad.mit.edu	37	4	123900543	123900543	+	Splice_Site	SNP	T	T	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr4:123900543T>G	ENST00000274008.4	+	10	1938		c.e10+2		SPATA5_ENST00000422835.2_Splice_Site	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						GTCCCAAATGTAAGTCATTTA	0.388																																						uc003iez.3		NaN																	0					0						c.e10+2		spermatogenesis associated 5							152.0	145.0	147.0					4																	123900543		2203	4300	6503	SO:0001630	splice_region_variant	166378				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity	g.chr4:123900543T>G	AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"""ATPases / AAA-type"""	18119	protein-coding gene	gene with protein product	"""ATPase family gene 2 homolog (S. cerevisiae)"""	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.1869+2T>G	4.37:g.123900543T>G						SPATA5_uc003iey.2_Splice_Site_p.N622_splice	p.N623_splice	NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN			10	1942	+								C9JT97|Q86XW1|Q8NI20|Q8TDL7	Splice_Site	SNP	ENST00000274008.4	37	c.1869_splice	CCDS3730.1	.	.	.	.	.	.	.	.	.	.	T	19.30	3.800273	0.70567	.	.	ENSG00000145375	ENST00000274008	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8916	0.70614	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPATA5	124119993	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	6.057000	0.71119	2.097000	0.63578	0.482000	0.46254	.		0.388	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256714.2		NM_145207	Intron	13	172	0	0	0	0.001368	0	13	172		
PCDH10	57575	broad.mit.edu	37	4	134072052	134072052	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr4:134072052C>T	ENST00000264360.5	+	1	1583	c.757C>T	c.(757-759)Ccc>Tcc	p.P253S	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	253	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TTTCGACCAACCCGTCTACAC	0.652																																						uc003iha.2		NaN																	0				ovary(2)	2						c.(757-759)CCC>TCC		protocadherin 10 isoform 1 precursor							91.0	87.0	88.0					4																	134072052		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134072052C>T	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.757C>T	4.37:g.134072052C>T	ENSP00000264360:p.Pro253Ser					uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.P253S	p.P253S	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	1583	+			253			Cadherin 3.|Extracellular (Potential).		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.757C>T	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	C	0.093	-1.163752	0.01673	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.37058	1.22	4.38	4.38	0.52667	Cadherin (3);Cadherin-like (1);	0.000000	0.43579	D	0.000545	T	0.13543	0.0328	N	0.01624	-0.795	0.34168	D	0.669458	B;B	0.09022	0.002;0.001	B;B	0.06405	0.001;0.002	T	0.13629	-1.0502	10	0.02654	T	1	.	16.7863	0.85575	0.0:1.0:0.0:0.0	.	253;253	Q9P2E7;Q96SF0	PCD10_HUMAN;.	S	253	ENSP00000264360:P253S	ENSP00000264360:P253S	P	+	1	0	PCDH10	134291502	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.026000	0.30103	2.254000	0.74563	0.505000	0.49811	CCC		0.652	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2		NM_032961		7	97	0	0	0	0.001984	0	7	97		
DCHS2	54798	broad.mit.edu	37	4	155254442	155254442	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr4:155254442T>G	ENST00000357232.4	-	9	1420	c.1421A>C	c.(1420-1422)aAt>aCt	p.N474T	DCHS2_ENST00000339452.1_Missense_Mutation_p.N973T|DCHS2_ENST00000507542.1_5'UTR	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	474	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTGGTTGTCATTGACATCCAT	0.607																																						uc003inw.2		NaN																	0				ovary(3)|pancreas(1)	4						c.(1420-1422)AAT>ACT		dachsous 2 isoform 1							121.0	105.0	111.0					4																	155254442		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155254442T>G	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.1421A>C	4.37:g.155254442T>G	ENSP00000349768:p.Asn474Thr					DCHS2_uc003inx.2_Missense_Mutation_p.N973T	p.N474T	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	9	1421	-	all_hematologic(180;0.208)	Renal(120;0.0854)	474			Cadherin 3.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.1421A>C	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	T	17.99	3.522260	0.64747	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.71222	-0.55;-0.55	5.63	5.63	0.86233	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.64402	D	0.000002	D	0.90776	0.7104	H	0.98866	4.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.94450	0.7666	10	0.87932	D	0	.	15.8458	0.78887	0.0:0.0:0.0:1.0	.	973;474	E9PC11;Q6V1P9	.;PCD23_HUMAN	T	474;973;973	ENSP00000349768:N474T;ENSP00000345062:N973T	ENSP00000345062:N973T	N	-	2	0	DCHS2	155473892	1.000000	0.71417	1.000000	0.80357	0.061000	0.15899	7.965000	0.87945	2.152000	0.67230	0.460000	0.39030	AAT		0.607	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2		NM_001142552		19	105	0	0	0	0.007413	0	19	105		
SH3RF1	57630	broad.mit.edu	37	4	170017810	170017810	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr4:170017810G>A	ENST00000284637.9	-	12	2868	c.2527C>T	c.(2527-2529)Cag>Tag	p.Q843*		NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	843	SH3 4. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|protein ubiquitination (GO:0016567)|regulation of JNK cascade (GO:0046328)	cell projection (GO:0042995)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		GCCTCACTCTGAGGAGGATAG	0.398																																						uc003isa.1		NaN																	0				breast(2)|lung(1)	3						c.(2527-2529)CAG>TAG		SH3 domain containing ring finger 1							110.0	98.0	102.0					4																	170017810		2203	4300	6503	SO:0001587	stop_gained	57630					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding	g.chr4:170017810G>A	BC033203	CCDS34099.1	4q32.3	2013-01-09	2006-02-13	2006-02-13	ENSG00000154447	ENSG00000154447		"""RING-type (C3HC4) zinc fingers"""	17650	protein-coding gene	gene with protein product	"""plenty of SH3 domains"""		"""SH3 multiple domains 2"""	SH3MD2		9482736	Standard	NM_020870		Approved	POSH, RNF142, KIAA1494	uc003isa.1	Q7Z6J0	OTTHUMG00000161010	ENST00000284637.9:c.2527C>T	4.37:g.170017810G>A	ENSP00000284637:p.Gln843*						p.Q843*	NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)	12	2862	-		Prostate(90;0.00267)|Renal(120;0.0183)	843			SH3 4.		Q05BT2|Q8IW46|Q9HAM2|Q9P234	Nonsense_Mutation	SNP	ENST00000284637.9	37	c.2527C>T	CCDS34099.1	.	.	.	.	.	.	.	.	.	.	G	42	9.622690	0.99221	.	.	ENSG00000154447	ENST00000284637	.	.	.	5.65	4.81	0.61882	.	0.162607	0.56097	D	0.000030	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-17.2375	14.5894	0.68354	0.0704:0.0:0.9296:0.0	.	.	.	.	X	843	.	ENSP00000284637:Q843X	Q	-	1	0	SH3RF1	170254385	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.378000	0.97191	1.384000	0.46424	0.557000	0.71058	CAG		0.398	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363382.3		NM_020870		14	86	0	0	0	0.001855	0	14	86		
CENPU	79682	broad.mit.edu	37	4	185622015	185622015	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr4:185622015C>G	ENST00000281453.5	-	11	1015	c.945G>C	c.(943-945)aaG>aaC	p.K315N	MLF1IP_ENST00000506535.1_Intron|MLF1IP_ENST00000541971.1_Missense_Mutation_p.K315N	NM_024629.3	NP_078905.2														endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|stomach(1)	13		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146)		all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419)		GCTGCCTTTTCTTTTCGATAT	0.373																																						uc003iwq.2		NaN																	0					0						c.(943-945)AAG>AAC		MLF1 interacting protein							159.0	142.0	148.0					4																	185622015		2203	4300	6503	SO:0001583	missense	79682				CenH3-containing nucleosome assembly at centromere|interspecies interaction between organisms|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|condensed chromosome kinetochore|cytosol|nucleoplasm		g.chr4:185622015C>G																												ENST00000281453.5:c.945G>C	4.37:g.185622015C>G	ENSP00000281453:p.Lys315Asn					MLF1IP_uc003iwp.2_Intron|MLF1IP_uc003iwr.1_Intron	p.K315N	NM_024629	NP_078905	Q71F23	CENPU_HUMAN		all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419)	11	1015	-		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146)	315			Nuclear localization signal (Potential).|Potential.			Missense_Mutation	SNP	ENST00000281453.5	37	c.945G>C	CCDS3838.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.343919	0.61073	.	.	ENSG00000151725	ENST00000281453;ENST00000541971	T;T	0.35421	1.31;1.31	4.94	4.94	0.65067	.	0.186567	0.37715	N	0.001979	T	0.58524	0.2128	M	0.72894	2.215	0.51012	D	0.999909	D	0.69078	0.997	D	0.71184	0.972	T	0.62006	-0.6945	10	0.72032	D	0.01	-9.5424	15.1939	0.73071	0.0:1.0:0.0:0.0	.	315	Q71F23	CENPU_HUMAN	N	315	ENSP00000281453:K315N;ENSP00000445862:K315N	ENSP00000281453:K315N	K	-	3	2	MLF1IP	185859009	1.000000	0.71417	1.000000	0.80357	0.549000	0.35272	4.171000	0.58236	2.546000	0.85860	0.563000	0.77884	AAG		0.373	MLF1IP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360841.2				8	87	0	0	0	0.00308	0	8	87		
F11	2160	broad.mit.edu	37	4	187201424	187201424	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr4:187201424G>A	ENST00000403665.2	+	9	1265	c.913G>A	c.(913-915)Gaa>Aaa	p.E305K	F11_ENST00000264692.4_Missense_Mutation_p.E253K	NM_000128.3	NP_000119.1	P03951	FA11_HUMAN	coagulation factor XI	305	Apple 4. {ECO:0000255|PROSITE- ProRule:PRU00315}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)	p.E305K(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	CTTGGGAGAAGAACTGGATAT	0.493																																						uc003iza.1		NaN																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(913-915)GAA>AAA		coagulation factor XI precursor	Coagulation Factor IX(DB00100)						165.0	165.0	165.0					4																	187201424		2203	4300	6503	SO:0001583	missense	2160				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity	g.chr4:187201424G>A	M13142	CCDS3847.1	4q35	2008-08-01	2008-08-01		ENSG00000088926	ENSG00000088926	3.4.21.27		3529	protein-coding gene	gene with protein product	"""plasma thromboplastin antecedent"""	264900					Standard	NM_000128		Approved	FXI	uc003iza.1	P03951	OTTHUMG00000150311	ENST00000403665.2:c.913G>A	4.37:g.187201424G>A	ENSP00000384957:p.Glu305Lys						p.E305K	NM_000128	NP_000119	P03951	FA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	9	1246	+		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)	305			Apple 4.		D3DP64|Q4W5C2|Q9Y495	Missense_Mutation	SNP	ENST00000403665.2	37	c.913G>A	CCDS3847.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.377843	0.82682	.	.	ENSG00000088926	ENST00000403665;ENST00000264692	D;D	0.82344	-1.6;-1.6	5.55	5.55	0.83447	Apple domain (2);PAN-1 domain (1);Apple-like (1);	0.136281	0.49916	D	0.000127	D	0.83188	0.5200	L	0.60845	1.875	0.49483	D	0.99979	P	0.36647	0.563	B	0.38921	0.285	T	0.82462	-0.0445	10	0.45353	T	0.12	.	19.9413	0.97163	0.0:0.0:1.0:0.0	.	305	P03951	FA11_HUMAN	K	305;253	ENSP00000384957:E305K;ENSP00000264692:E253K	ENSP00000264692:E253K	E	+	1	0	F11	187438418	1.000000	0.71417	1.000000	0.80357	0.641000	0.38312	6.354000	0.73036	2.779000	0.95612	0.650000	0.86243	GAA		0.493	F11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317519.4				16	207	0	0	0	0.00499	0	16	207		
ICE1	23379	broad.mit.edu	37	5	5457794	5457794	+	Silent	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr5:5457794G>C	ENST00000296564.7	+	12	1263	c.1041G>C	c.(1039-1041)gtG>gtC	p.V347V		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		347	Pro-rich.				positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TGTCACCAGTGCCCTCGCCCC	0.458																																						uc003jdm.3		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1039-1041)GTG>GTC		hypothetical protein LOC23379							213.0	208.0	209.0					5																	5457794		1918	4111	6029	SO:0001819	synonymous_variant	23379							g.chr5:5457794G>C																												ENST00000296564.7:c.1041G>C	5.37:g.5457794G>C							p.V347V	NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN			12	1263	+			347			Pro-rich.		Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Silent	SNP	ENST00000296564.7	37	c.1041G>C	CCDS47187.1																																																																																				0.458	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1				62	420	0	0	0	0.00361	0	62	420		
SKP2	6502	broad.mit.edu	37	5	36163852	36163852	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr5:36163852G>A	ENST00000274255.6	+	3	582	c.386G>A	c.(385-387)cGc>cAc	p.R129H	SKP2_ENST00000508514.1_Intron|SKP2_ENST00000274254.5_Missense_Mutation_p.R129H|SKP2_ENST00000546211.1_Intron	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	129	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|cellular response to cell-matrix adhesion (GO:0071460)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	identical protein binding (GO:0042802)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGGTGGTATCGCCTAGCGTAA	0.468																																						uc003jkc.1		NaN																	0				central_nervous_system(2)|ovary(1)|breast(1)	4						c.(385-387)CGC>CAC		S-phase kinase-associated protein 2 isoform 1							130.0	111.0	117.0					5																	36163852		2203	4300	6503	SO:0001583	missense	6502				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr5:36163852G>A	U33761	CCDS3915.1, CCDS3916.1, CCDS58944.1	5p13	2012-02-23	2012-02-23		ENSG00000145604	ENSG00000145604		"""F-boxes / Leucine-rich repeats"""	10901	protein-coding gene	gene with protein product		601436	"""S-phase kinase-associated protein 2 (p45)"""			8646875	Standard	NM_005983		Approved	FBXL1, FBL1, p45	uc003jkc.2	Q13309	OTTHUMG00000131106	ENST00000274255.6:c.386G>A	5.37:g.36163852G>A	ENSP00000274255:p.Arg129His					SKP2_uc011cou.1_Intron|SKP2_uc003jkd.2_Missense_Mutation_p.R129H	p.R129H	NM_005983	NP_005974	Q13309	SKP2_HUMAN	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		3	568	+	all_lung(31;5.63e-05)		129			F-box.		A8K5E0|B4DJT4|Q8TDZ0|Q8TDZ1|Q9BV69	Missense_Mutation	SNP	ENST00000274255.6	37	c.386G>A	CCDS3916.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.251126	0.39797	.	.	ENSG00000145604	ENST00000274254;ENST00000274255;ENST00000308927;ENST00000513151	T;T;T	0.49139	0.79;0.79;0.79	4.92	3.98	0.46160	F-box domain, cyclin-like (2);F-box domain, Skp2-like (1);	0.302114	0.42548	N	0.000698	T	0.39545	0.1082	L	0.61218	1.895	0.80722	D	1	B;B	0.10296	0.001;0.003	B;B	0.08055	0.001;0.003	T	0.21245	-1.0251	10	0.20519	T	0.43	-0.2876	6.773	0.23604	0.1526:0.0:0.8474:0.0	.	129;129	Q13309-2;Q13309	.;SKP2_HUMAN	H	129;129;95;129	ENSP00000274254:R129H;ENSP00000274255:R129H;ENSP00000423188:R129H	ENSP00000274254:R129H	R	+	2	0	SKP2	36199609	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	5.403000	0.66338	1.287000	0.44583	0.650000	0.86243	CGC		0.468	SKP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253769.2		NM_005983		10	120	0	0	0	0.008291	0	10	120		
C9	735	broad.mit.edu	37	5	39308390	39308390	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr5:39308390G>C	ENST00000263408.4	-	8	1277	c.1182C>G	c.(1180-1182)atC>atG	p.I394M		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	394	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			CTCCAACAGAGATTTCAGAGA	0.368																																						uc003jlv.3		NaN																	0					0						c.(1180-1182)ATC>ATG		complement component 9 precursor							130.0	127.0	128.0					5																	39308390		2203	4300	6503	SO:0001583	missense	735				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		g.chr5:39308390G>C		CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"""Complement system"""	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.1182C>G	5.37:g.39308390G>C	ENSP00000263408:p.Ile394Met						p.I394M	NM_001737	NP_001728	P02748	CO9_HUMAN	Epithelial(62;0.158)		8	1271	-	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	394			MACPF.			Missense_Mutation	SNP	ENST00000263408.4	37	c.1182C>G	CCDS3929.1	.	.	.	.	.	.	.	.	.	.	G	8.066	0.769104	0.15983	.	.	ENSG00000113600	ENST00000263408	T	0.32023	1.47	4.73	2.51	0.30379	Membrane attack complex component/perforin (MACPF) domain (3);	4.297030	0.00589	N	0.000345	T	0.25419	0.0618	L	0.34521	1.04	0.09310	N	1	P	0.42649	0.786	B	0.40329	0.326	T	0.12553	-1.0543	10	0.45353	T	0.12	0.645	2.4552	0.04528	0.3282:0.0:0.1765:0.4952	.	394	P02748	CO9_HUMAN	M	394	ENSP00000263408:I394M	ENSP00000263408:I394M	I	-	3	3	C9	39344147	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-0.148000	0.10219	0.460000	0.27045	0.585000	0.79938	ATC		0.368	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3				8	166	0	0	0	0.00308	0	8	166		
GPR98	84059	broad.mit.edu	37	5	89985813	89985813	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr5:89985813C>A	ENST00000405460.2	+	30	6722	c.6626C>A	c.(6625-6627)aCa>aAa	p.T2209K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2209					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATGAATGAAACAACAGGAGGA	0.398																																						uc003kju.2		NaN																	0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(6625-6627)ACA>AAA		G protein-coupled receptor 98 precursor							59.0	56.0	57.0					5																	89985813		1844	4084	5928	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89985813C>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.6626C>A	5.37:g.89985813C>A	ENSP00000384582:p.Thr2209Lys					GPR98_uc003kjt.2_5'UTR	p.T2209K	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	30	6722	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	2209			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.6626C>A	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.533872	0.85812	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.27720	1.65	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.57504	0.2058	M	0.72479	2.2	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58875	-0.7559	10	0.56958	D	0.05	.	19.1187	0.93353	0.0:1.0:0.0:0.0	.	2209	Q8WXG9	GPR98_HUMAN	K	2209	ENSP00000384582:T2209K	ENSP00000296619:T2209K	T	+	2	0	GPR98	90021569	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.835000	0.69368	2.501000	0.84356	0.650000	0.86243	ACA		0.398	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2		NM_032119		11	9	1	0	3.07112e-06	0.010729	3.23712e-06	11	9		
CHD1	1105	broad.mit.edu	37	5	98212205	98212205	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr5:98212205C>A	ENST00000284049.3	-	23	3444	c.3295G>T	c.(3295-3297)Gat>Tat	p.D1099Y		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1099					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	GAATCACTATCAGATCCAGAG	0.408																																						uc003knf.2		NaN																	0				lung(2)|ovary(1)|breast(1)|pancreas(1)	5						c.(3295-3297)GAT>TAT		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)						152.0	148.0	149.0					5																	98212205		2203	4300	6503	SO:0001583	missense	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98212205C>A	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.3295G>T	5.37:g.98212205C>A	ENSP00000284049:p.Asp1099Tyr					CHD1_uc010jbn.2_5'Flank	p.D1099Y	NM_001270	NP_001261	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	23	3443	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	1099					Q17RZ3	Missense_Mutation	SNP	ENST00000284049.3	37	c.3295G>T	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297336	0.60086	.	.	ENSG00000153922	ENST00000284049	D	0.90788	-2.73	5.14	5.14	0.70334	.	0.000000	0.34555	U	0.003862	D	0.93132	0.7813	L	0.40543	1.245	0.80722	D	1	D	0.71674	0.998	D	0.69142	0.962	D	0.93909	0.7195	10	0.87932	D	0	.	18.981	0.92755	0.0:1.0:0.0:0.0	.	1099	O14646	CHD1_HUMAN	Y	1099	ENSP00000284049:D1099Y	ENSP00000284049:D1099Y	D	-	1	0	CHD1	98240105	1.000000	0.71417	1.000000	0.80357	0.351000	0.29236	7.480000	0.81109	2.546000	0.85860	0.650000	0.86243	GAT		0.408	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1		NM_001270		9	185	1	0	3.07112e-06	0.010729	3.23712e-06	9	185		
APC	324	broad.mit.edu	37	5	112179759	112179759	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr5:112179759C>G	ENST00000457016.1	+	16	8848	c.8468C>G	c.(8467-8469)aCa>aGa	p.T2823R	APC_ENST00000257430.4_Missense_Mutation_p.T2823R|APC_ENST00000508376.2_Missense_Mutation_p.T2823R|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	2823	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ACTGACAGCACAGAATCCAGT	0.438		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	uc010jby.2		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	D|Mis|N|F|S	adenomatous polyposis of the colon gene			"""E, M, O"""		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS		1	Unknown(1)	p.?(1)	skin(1)	large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515						c.(8467-8469)ACA>AGA		adenomatous polyposis coli							73.0	75.0	74.0					5																	112179759		2202	4299	6501	SO:0001583	missense	324	Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112179759C>G	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.8468C>G	5.37:g.112179759C>G	ENSP00000413133:p.Thr2823Arg	TSP Lung(16;0.13)				APC_uc011cvt.1_Missense_Mutation_p.T2805R|APC_uc003kpz.3_Missense_Mutation_p.T2823R|APC_uc003kpy.3_Missense_Mutation_p.T2823R|APC_uc010jbz.2_Missense_Mutation_p.T2540R|APC_uc010jca.2_Missense_Mutation_p.T2123R	p.T2823R	NM_001127511	NP_001120983	P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	8848	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	2823			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.8468C>G	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.764211	0.49574	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	T;T;T	0.81415	-1.49;-1.49;-1.49	5.92	5.92	0.95590	EB-1 binding (1);	0.205047	0.52532	D	0.000074	T	0.78413	0.4279	L	0.27053	0.805	0.48395	D	0.999646	B;B	0.31274	0.317;0.317	B;B	0.42112	0.376;0.376	T	0.71889	-0.4456	9	.	.	.	-12.7278	20.3248	0.98698	0.0:1.0:0.0:0.0	.	2825;2823	Q4LE70;P25054	.;APC_HUMAN	R	2823	ENSP00000413133:T2823R;ENSP00000257430:T2823R;ENSP00000427089:T2823R	.	T	+	2	0	APC	112207658	0.992000	0.36948	1.000000	0.80357	0.997000	0.91878	4.232000	0.58645	2.818000	0.97014	0.655000	0.94253	ACA		0.438	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2		NM_000038		40	42	0	0	0	0.006999	0	40	42		
PCDHA12	56137	broad.mit.edu	37	5	140256667	140256667	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr5:140256667C>T	ENST00000398631.2	+	1	1610	c.1610C>T	c.(1609-1611)gCg>gTg	p.A537V	PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	537	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGTGAGCGCGCGCGACGCC	0.687																																					Pancreas(113;759 1672 13322 24104 50104)	uc003lic.2		NaN																	0					0						c.(1609-1611)GCG>GTG		protocadherin alpha 12 isoform 1 precursor							75.0	83.0	81.0					5																	140256667		2203	4298	6501	SO:0001583	missense	56137				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140256667C>T	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1610C>T	5.37:g.140256667C>T	ENSP00000381628:p.Ala537Val					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.A537V	p.A537V	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1737	+			537			Cadherin 5.|Extracellular (Potential).		O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	c.1610C>T	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.980305	0.92982	.	.	ENSG00000251664	ENST00000398631	T	0.73363	-0.74	4.92	4.92	0.64577	Cadherin (5);Cadherin-like (1);	.	.	.	.	D	0.85779	0.5776	M	0.78801	2.425	0.48395	D	0.999642	D;D	0.71674	0.986;0.998	D;P	0.65573	0.936;0.787	D	0.87917	0.2701	9	0.72032	D	0.01	.	17.695	0.88278	0.0:1.0:0.0:0.0	.	537;537	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	V	537	ENSP00000381628:A537V	ENSP00000381628:A537V	A	+	2	0	PCDHA12	140236851	0.906000	0.30813	1.000000	0.80357	0.859000	0.49053	1.874000	0.39568	2.271000	0.75665	0.561000	0.74099	GCG		0.687	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2		NM_018903		107	89	0	0	0	0.00361	0	107	89		
PCDHB16	57717	broad.mit.edu	37	5	140568500	140568500	+	IGR	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr5:140568500G>A	ENST00000361016.2	+	0	4814					NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16						calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCAGACCGCGGCTCCCCGGC	0.667																																						uc003liw.1		NaN																	0					0						c.(1609-1611)GGC>AGC		protocadherin beta 9 precursor							53.0	64.0	60.0					5																	140568500		2203	4299	6502	SO:0001628	intergenic_variant	56127				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140568500G>A	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325		5.37:g.140568500G>A							p.G537S	NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		3	1609	+			537			Extracellular (Potential).|Cadherin 5.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	c.1609G>A	CCDS4251.1																																																																																				0.667	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1		NM_020957		46	113	0	0	0	0.00361	0	46	113		
PCDHGA12	26025	broad.mit.edu	37	5	140890659	140890659	+	Silent	SNP	C	C	T	rs143362044	byFrequency	TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr5:140890659C>T	ENST00000252085.3	+	4	2860	c.2718C>T	c.(2716-2718)aaC>aaT	p.N906N	PCDHGC3_ENST00000308177.3_Silent_p.N908N|PCDHGC5_ENST00000252087.1_Silent_p.N918N|PCDHGB3_ENST00000576222.1_Silent_p.N903N|PCDHGA1_ENST00000517417.1_Silent_p.N905N|PCDHGB7_ENST00000398594.2_Silent_p.N903N|PCDHGA10_ENST00000398610.2_Silent_p.N910N|PCDHGA9_ENST00000573521.1_Silent_p.N906N|PCDHGB4_ENST00000519479.1_Silent_p.N897N|PCDHGA7_ENST00000518325.1_Silent_p.N906N|PCDHGA11_ENST00000398587.2_Silent_p.N909N|PCDHGB1_ENST00000523390.1_Silent_p.N901N|PCDHGB2_ENST00000522605.1_Silent_p.N905N|PCDHGA3_ENST00000253812.6_Silent_p.N906N|PCDHGA4_ENST00000571252.1_Silent_p.N905N|PCDHGA5_ENST00000518069.1_Silent_p.N905N|PCDHGB6_ENST00000520790.1_Silent_p.N904N|PCDHGA6_ENST00000517434.1_Silent_p.N906N|PCDHGA8_ENST00000398604.2_Silent_p.N906N|PCDHGA2_ENST00000394576.2_Silent_p.N906N|PCDHGA11_ENST00000518882.1_Silent_p.N724N|PCDHGC4_ENST00000306593.1_Silent_p.N912N	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	906					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTGACCAACGCAGCTGGCA	0.597																																						uc003lla.1		NaN																	0				ovary(3)	3						c.(2752-2754)AAC>AAT		protocadherin gamma subfamily C, 5 isoform 1		C	,,,,,,,,,,,,,,,,,,,,,,,	1,4405	2.1+/-5.4	0,1,2202	89.0	85.0	87.0		2724,2718,2691,2715,2730,2727,2718,2718,2715,2715,2718,2718,2718,2703,2715,2709,2691,2712,2709,2736,2754,2718,2172,324	-4.9	0.8	5	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PCDHGC3,PCDHGB4,PCDHGA8,PCDHGA12,PCDHGC5,PCDHGC4,PCDHGB7,PCDHGB6,PCDHGB5,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA11,PCDHGA10,PCDHGA9,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_002588.2,NM_003735.2,NM_003736.2,NM_018912.2,NM_018913.2,NM_018914.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018920.2,NM_018921.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_018925.2,NM_018926.2,NM_018927.3,NM_018928.2,NM_018929.2,NM_032088.1,NM_032092.1,NM_032403.1	,,,,,,,,,,,,,,,,,,,,,,,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,,,,,,,,,,,,,,,,,,,,,,,	908/935,906/933,897/924,905/932,910/937,909/936,906/933,906/933,905/932,905/932,906/933,906/933,906/933,901/928,905/932,903/930,897/924,904/931,903/930,912/939,918/945,906/933,724/751,108/135	140890659	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	56097				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140890659C>T	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.2718C>T	5.37:g.140890659C>T						PCDHGA1_uc003lji.1_Silent_p.N905N|PCDHGA2_uc003ljk.1_Silent_p.N906N|PCDHGA3_uc003ljm.1_Silent_p.N906N|PCDHGA3_uc010jfx.1_Silent_p.N666N|PCDHGB1_uc003ljo.1_Silent_p.N901N|PCDHGA4_uc003ljq.1_Silent_p.N905N|PCDHGB2_uc003ljs.1_Silent_p.N905N|PCDHGA5_uc003lju.1_Silent_p.N905N|PCDHGB3_uc003ljw.1_Silent_p.N903N|PCDHGA6_uc003ljy.1_Silent_p.N906N|PCDHGA7_uc003lka.1_Silent_p.N906N|PCDHGB4_uc003lkc.1_Silent_p.N897N|PCDHGA8_uc003lkd.1_Silent_p.N906N|PCDHGB5_uc003lkf.1_Silent_p.N897N|PCDHGA9_uc003lkh.1_Silent_p.N906N|PCDHGB6_uc003lkj.1_Silent_p.N904N|PCDHGA10_uc003lkl.1_Silent_p.N910N|PCDHGB7_uc003lkn.1_Silent_p.N903N|PCDHGA11_uc003lkp.1_Silent_p.N724N|PCDHGA11_uc003lkq.1_Silent_p.N909N|PCDHGA12_uc003lkt.1_Silent_p.N906N|PCDHGC3_uc003lkv.1_Silent_p.N908N|PCDHGC3_uc003lkw.1_Silent_p.N108N|PCDHGC4_uc003lky.1_Silent_p.N912N	p.N918N	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	2754	+			918			Cytoplasmic (Potential).		O15100|Q6UW70|Q9Y5D7	Silent	SNP	ENST00000252085.3	37	c.2754C>T	CCDS4260.1																																																																																				0.597	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2		NM_003735		8	127	0	0	0	0.004482	0	8	127		
TCERG1	10915	broad.mit.edu	37	5	145890061	145890061	+	Silent	SNP	A	A	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr5:145890061A>G	ENST00000296702.5	+	22	3191	c.3153A>G	c.(3151-3153)ttA>ttG	p.L1051L	TCERG1_ENST00000394421.2_Silent_p.L1030L	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	1051	FF 6.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAAAAATTTTACAGAATGACA	0.418																																						uc003lob.2		NaN																	0				ovary(1)|skin(1)	2						c.(3151-3153)TTA>TTG		transcription elongation regulator 1 isoform 1							91.0	90.0	90.0					5																	145890061		2203	4300	6503	SO:0001819	synonymous_variant	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145890061A>G	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.3153A>G	5.37:g.145890061A>G						TCERG1_uc003loc.2_Silent_p.L1030L	p.L1051L	NM_006706	NP_006697	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		22	3193	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	1051			FF 6.		Q2NKN2|Q59EA1	Silent	SNP	ENST00000296702.5	37	c.3153A>G	CCDS4282.1																																																																																				0.418	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1		NM_001040006		31	46	0	0	0	0.009535	0	31	46		
GRIA1	2890	broad.mit.edu	37	5	153144142	153144142	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr5:153144142G>C	ENST00000285900.5	+	12	2315	c.1972G>C	c.(1972-1974)Gaa>Caa	p.E658Q	GRIA1_ENST00000518783.1_Missense_Mutation_p.E668Q|GRIA1_ENST00000340592.5_Missense_Mutation_p.E658Q|GRIA1_ENST00000521843.2_Missense_Mutation_p.E589Q|GRIA1_ENST00000448073.4_Missense_Mutation_p.E668Q|GRIA1_ENST00000518142.1_Missense_Mutation_p.E578Q	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	658					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	GAAGCAGACAGAAATTGCCTA	0.507																																						uc003lva.3		NaN																	0				ovary(4)|skin(2)	6						c.(1972-1974)GAA>CAA		glutamate receptor, ionotropic, AMPA 1 isoform	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						112.0	94.0	100.0					5																	153144142		2203	4300	6503	SO:0001583	missense	2890				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153144142G>C		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.1972G>C	5.37:g.153144142G>C	ENSP00000285900:p.Glu658Gln					GRIA1_uc003luy.3_Missense_Mutation_p.E658Q|GRIA1_uc003luz.3_Missense_Mutation_p.E563Q|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.E578Q|GRIA1_uc011dcx.1_Missense_Mutation_p.E589Q|GRIA1_uc011dcy.1_Missense_Mutation_p.E668Q|GRIA1_uc011dcz.1_Missense_Mutation_p.E668Q	p.E658Q	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		12	2337	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	658			Extracellular (Potential).		B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.1972G>C	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.821433	0.90873	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08;1.08	5.27	5.27	0.74061	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.62307	0.2417	L	0.59967	1.855	0.80722	D	1	D;D;P;D;D	0.89917	1.0;1.0;0.613;1.0;0.994	D;D;P;D;D	0.91635	0.999;0.999;0.544;0.998;0.974	T	0.62393	-0.6864	10	0.51188	T	0.08	.	17.8573	0.88769	0.0:0.0:1.0:0.0	.	668;668;578;658;658	E7ESV8;B7Z9G9;B7Z3F6;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	Q	658;658;578;612;658;591;589;668;668	ENSP00000285900:E658Q;ENSP00000427920:E578Q;ENSP00000339343:E658Q;ENSP00000427864:E591Q;ENSP00000442108:E589Q;ENSP00000428994:E668Q;ENSP00000415569:E668Q	ENSP00000285900:E658Q	E	+	1	0	GRIA1	153124335	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	9.640000	0.98453	2.447000	0.82792	0.561000	0.74099	GAA		0.507	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3				8	52	0	0	0	0.004482	0	8	52		
DSP	1832	broad.mit.edu	37	6	7585963	7585963	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:7585963C>A	ENST00000379802.3	+	24	8809	c.8468C>A	c.(8467-8469)cCg>cAg	p.P2823Q	DSP_ENST00000418664.2_Missense_Mutation_p.P2224Q	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2823	Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TCTTCGGCTCCGGGGtcccgc	0.632																																						uc003mxp.1		NaN																	0				central_nervous_system(6)|ovary(2)|skin(1)	9						c.(8467-8469)CCG>CAG		desmoplakin isoform I							66.0	78.0	74.0					6																	7585963		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7585963C>A	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.8468C>A	6.37:g.7585963C>A	ENSP00000369129:p.Pro2823Gln					DSP_uc003mxq.1_Missense_Mutation_p.P2224Q	p.P2823Q	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	8747	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	2823			Globular 2.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.8468C>A	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.776825	0.70107	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.74947	-0.63;-0.89	4.9	4.9	0.64082	.	0.000000	0.56097	D	0.000022	T	0.79799	0.4508	L	0.50333	1.59	0.48341	D	0.999637	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.78048	-0.2356	10	0.38643	T	0.18	.	18.4397	0.90662	0.0:1.0:0.0:0.0	.	2271;2823	Q4LE79;P15924	.;DESP_HUMAN	Q	2823;2224	ENSP00000369129:P2823Q;ENSP00000396591:P2224Q	ENSP00000369129:P2823Q	P	+	2	0	DSP	7530962	1.000000	0.71417	0.530000	0.27963	0.189000	0.23516	5.967000	0.70403	2.433000	0.82419	0.655000	0.94253	CCG		0.632	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2		NM_004415		27	137	1	0	2.44723e-14	0.004656	2.74936e-14	27	137		
HIST1H1D	3007	broad.mit.edu	37	6	26234919	26234919	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	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		22	160	0	0	0	0.012319	0	22	160		
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716	byFrequency	TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:29910693A>G	ENST00000396634.1	+	4	574	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	78	Alpha-1.				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.Q78R(2)		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						TGGATAGAGCAGGAGGGGCCG	0.657									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																	2	Substitution - Missense(2)		lung(1)|endometrium(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(232-234)CAG>CGG		major histocompatibility complex, class I, A							54.0	57.0	56.0					6																	29910693		2203	4299	6502	SO:0001583	missense	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.chr6:29910693A>G	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.233A>G	6.37:g.29910693A>G	ENSP00000379873:p.Gln78Arg	Multiple Myeloma(9;0.094)				HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_Intron|HLA-A_uc010jrq.2_5'UTR|HLA-A_uc003nok.2_5'UTR|HLA-A_uc003non.2_Missense_Mutation_p.Q78R|HLA-A_uc003noo.2_Missense_Mutation_p.Q78R|HLA-A_uc010jrr.2_Missense_Mutation_p.Q78R|HLA-A_uc003nom.2_5'UTR|HLA-A_uc010klp.2_Missense_Mutation_p.Q50R|HLA-A_uc011dmc.1_5'UTR|HLA-A_uc011dmd.1_5'Flank	p.Q78R	NM_002116	NP_002107	P30443	1A01_HUMAN			2	233	+			78			Extracellular (Potential).|Alpha-1.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	c.233A>G	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	9.798	1.179669	0.21787	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	T;T;T;T	0.00784	5.7;5.7;5.7;5.7	3.72	-4.39	0.03611	MHC class I, alpha chain, alpha1/alpha2 (3);MHC classes I/II-like antigen recognition protein (3);MHC class I-like antigen recognition (3);	1.398580	0.06189	N	0.681068	T	0.00815	0.0027	L	0.56280	1.765	0.09310	N	1	B;P;B;P;B	0.42483	0.0;0.781;0.0;0.781;0.0	B;D;B;D;B	0.71184	0.006;0.972;0.01;0.972;0.01	T	0.44952	-0.9294	10	0.87932	D	0	.	0.9552	0.01384	0.3504:0.1689:0.3159:0.1647	rs41559716	78;78;78;78;78	P13746;Q5SRN7;P16188;Q5SRN5;P04439	1A11_HUMAN;.;1A30_HUMAN;.;1A03_HUMAN	R	78	ENSP00000379873:Q78R;ENSP00000366002:Q78R;ENSP00000366005:Q78R;ENSP00000365998:Q78R	ENSP00000348012:Q78R	Q	+	2	0	HLA-A	30018672	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-0.990000	0.03732	-0.910000	0.03847	-0.450000	0.05554	CAG		0.657	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1		NM_002116		4	22	0	0	0	0.001168	0	4	22		
CFB	629	broad.mit.edu	37	6	31918657	31918657	+	Silent	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:31918657C>G	ENST00000425368.2	+	14	2304	c.1791C>G	c.(1789-1791)ctC>ctG	p.L597L	CFB_ENST00000556679.1_Silent_p.L1099L|CFB_ENST00000456570.1_Silent_p.L1099L|CFB_ENST00000477310.1_Silent_p.L948L	NM_001710.5	NP_001701.2	P00751	CFAB_HUMAN	complement factor B	597	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement binding (GO:0001848)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CCATTTGTCTCCCCTGCACCG	0.532																																						uc003nyj.3		NaN																	0				skin(1)	1						c.(1789-1791)CTC>CTG		complement factor B preproprotein							109.0	104.0	106.0					6																	31918657		1510	2709	4219	SO:0001819	synonymous_variant	629				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31918657C>G	L15702	CCDS4729.1	6p21.33	2014-09-17	2006-02-10	2006-02-10	ENSG00000243649	ENSG00000243649	3.4.21.47	"""Complement system"""	1037	protein-coding gene	gene with protein product		138470	"""B-factor, properdin"""	BFD, BF			Standard	NM_001710		Approved	H2-Bf	uc011dor.2	P00751	OTTHUMG00000031198	ENST00000425368.2:c.1791C>G	6.37:g.31918657C>G						CFB_uc011dor.1_Silent_p.L1099L	p.L597L	NM_001710	NP_001701	P00751	CFAB_HUMAN			14	2069	+			597			Peptidase S1.		B0QZQ6|O15006|Q29944|Q53F89|Q5JP67|Q5ST50|Q96HX6|Q9BTF5|Q9BX92	Silent	SNP	ENST00000425368.2	37	c.1791C>G	CCDS4729.1	.	.	.	.	.	.	.	.	.	.	C	9.577	1.122571	0.20877	.	.	ENSG00000243649	ENST00000483004	.	.	.	5.46	0.0991	0.14501	.	.	.	.	.	T	0.27933	0.0688	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.18023	-1.0350	4	.	.	.	-25.2849	3.6458	0.08184	0.2478:0.3862:0.2851:0.0808	.	.	.	.	C	138	.	.	S	+	2	0	CFB	32026636	0.528000	0.26314	1.000000	0.80357	0.984000	0.73092	-0.700000	0.05081	0.235000	0.21160	0.491000	0.48974	TCC		0.532	CFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076395.3		NM_001710		18	130	0	0	0	0.008871	0	18	130		
PHF3	23469	broad.mit.edu	37	6	64422216	64422216	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:64422216A>G	ENST00000262043.3	+	16	5072	c.4732A>G	c.(4732-4734)Att>Gtt	p.I1578V	PHF3_ENST00000393387.1_Missense_Mutation_p.I1578V			Q92576	PHF3_HUMAN	PHD finger protein 3	1578					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AAATTTATCAATTCAGTCAAA	0.378																																					GBM(135;136 1820 29512 34071 46235)	uc003pep.1		NaN																	0				ovary(3)|lung(1)|skin(1)	5						c.(4732-4734)ATT>GTT		PHD finger protein 3							53.0	51.0	52.0					6																	64422216		2203	4300	6503	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64422216A>G	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.4732A>G	6.37:g.64422216A>G	ENSP00000262043:p.Ile1578Val					PHF3_uc003pen.2_Missense_Mutation_p.I1490V|PHF3_uc011dxs.1_Missense_Mutation_p.I847V	p.I1578V	NM_015153	NP_055968	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		15	4758	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		1578					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.4732A>G	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	A	8.582	0.882631	0.17467	.	.	ENSG00000118482	ENST00000515594;ENST00000262043;ENST00000393387	T;T;T	0.47177	0.85;2.03;2.03	5.98	4.82	0.62117	.	0.000000	0.40222	N	0.001144	T	0.14399	0.0348	L	0.32530	0.975	0.29518	N	0.853694	B	0.15473	0.013	B	0.08055	0.003	T	0.16041	-1.0416	10	0.13470	T	0.59	-8.1713	9.5297	0.39187	0.8485:0.0:0.1515:0.0	.	1578	Q92576	PHF3_HUMAN	V	847;1578;1578	ENSP00000425338:I847V;ENSP00000262043:I1578V;ENSP00000377048:I1578V	ENSP00000262043:I1578V	I	+	1	0	PHF3	64480175	1.000000	0.71417	0.993000	0.49108	0.845000	0.48019	3.538000	0.53597	1.091000	0.41335	0.482000	0.46254	ATT		0.378	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2				5	95	0	0	0	0.000602	0	5	95		
IRAK1BP1	134728	broad.mit.edu	37	6	79577433	79577433	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:79577433A>C	ENST00000369940.2	+	1	245	c.140A>C	c.(139-141)cAa>cCa	p.Q47P		NM_001010844.2	NP_001010844.1	Q5VVH5	IKBP1_HUMAN	interleukin-1 receptor-associated kinase 1 binding protein 1	47	Intrinsically disordered.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(3)	12		all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)		BRCA - Breast invasive adenocarcinoma(397;0.21)		ACACAAGCCCAAACTGCTACC	0.652																																						uc003pim.2		NaN																	0					0						c.(139-141)CAA>CCA		interleukin-1 receptor-associated kinase 1							53.0	51.0	52.0					6																	79577433		2203	4300	6503	SO:0001583	missense	134728				I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr6:79577433A>C	AI478629	CCDS34488.1	6q14-q15	2006-04-12				ENSG00000146243			17368	protein-coding gene	gene with protein product		615375				11096118	Standard	XM_005248654		Approved	AIP70, SIMPL	uc003pim.4	Q5VVH5		ENST00000369940.2:c.140A>C	6.37:g.79577433A>C	ENSP00000358956:p.Gln47Pro					IRAK1BP1_uc010kbg.1_RNA	p.Q47P	NM_001010844	NP_001010844	Q5VVH5	IKBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.21)	1	245	+		all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)	47			Intrinsically disordered.			Missense_Mutation	SNP	ENST00000369940.2	37	c.140A>C	CCDS34488.1	.	.	.	.	.	.	.	.	.	.	A	10.56	1.383232	0.25031	.	.	ENSG00000146243	ENST00000369940	.	.	.	4.35	0.0399	0.14206	.	1.167370	0.06147	N	0.673513	T	0.12390	0.0301	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.33317	-0.9873	8	.	.	.	0.2718	9.8244	0.40903	0.4649:0.5351:0.0:0.0	.	47	Q5VVH5	IKBP1_HUMAN	P	47	.	.	Q	+	2	0	IRAK1BP1	79634152	0.002000	0.14202	0.001000	0.08648	0.022000	0.10575	0.850000	0.27737	0.177000	0.19895	-0.466000	0.05196	CAA		0.652	IRAK1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041296.2		XM_059729		12	45	0	0	0	0.001368	0	12	45		
RPF2	84154	broad.mit.edu	37	6	111346773	111346773	+	Silent	SNP	T	T	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:111346773T>A	ENST00000441448.2	+	10	1001	c.909T>A	c.(907-909)atT>atA	p.I303I		NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN	ribosome production factor 2 homolog (S. cerevisiae)	303						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.I303I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						CAAAAAGAATTAAAAAAAATT	0.368																																						uc003pun.2		NaN																	1	Substitution - coding silent(1)		central_nervous_system(1)	ovary(2)	2						c.(907-909)ATT>ATA		brix domain containing 1							29.0	33.0	31.0					6																	111346773		2199	4300	6499	SO:0001819	synonymous_variant	84154					nucleolus	protein binding	g.chr6:111346773T>A	AK024740	CCDS5088.1	6q21	2009-09-25	2009-09-25	2009-09-25	ENSG00000197498	ENSG00000197498			20870	protein-coding gene	gene with protein product	"""ribosomal processing factor 2 homolog (S. cerevisiae)"""		"""brix domain containing 1"""	BXDC1		12048200	Standard	NM_032194		Approved	FLJ21087, bA397G5.4	uc003pun.3	Q9H7B2	OTTHUMG00000015368	ENST00000441448.2:c.909T>A	6.37:g.111346773T>A						RPF2_uc003puo.2_Silent_p.I240I|uc003pup.1_5'Flank	p.I303I	NM_032194	NP_115570	Q9H7B2	RPF2_HUMAN			10	928	+			303					Q5VXN1|Q8N4A1	Silent	SNP	ENST00000441448.2	37	c.909T>A	CCDS5088.1																																																																																				0.368	RPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041813.2		NM_032194		8	28	0	0	0	0.001855	0	8	28		
ECHDC1	55862	broad.mit.edu	37	6	127611373	127611373	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:127611373T>C	ENST00000531967.1	-	6	1068	c.565A>G	c.(565-567)Ata>Gta	p.I189V	ECHDC1_ENST00000309620.9_Missense_Mutation_p.I166V|ECHDC1_ENST00000368289.2_3'UTR|ECHDC1_ENST00000454859.3_Missense_Mutation_p.I183V|ECHDC1_ENST00000474289.2_Missense_Mutation_p.I183V|ECHDC1_ENST00000528402.1_3'UTR|ECHDC1_ENST00000454591.2_Missense_Mutation_p.I108V|ECHDC1_ENST00000430841.2_Missense_Mutation_p.I183V|ECHDC1_ENST00000368291.2_3'UTR|ECHDC1_ENST00000488087.1_5'UTR	NM_001139510.1	NP_001132982.1	Q9NTX5	ECHD1_HUMAN	enoyl CoA hydratase domain containing 1	189						cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxy-lyase activity (GO:0016831)|methylmalonyl-CoA decarboxylase activity (GO:0004492)			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		CTTGGTATTATGCCCATCTCT	0.413																																						uc003qax.2		NaN																	0					0						c.(565-567)ATA>GTA		enoyl Coenzyme A hydratase domain containing 1							75.0	68.0	70.0					6																	127611373		1863	4103	5966	SO:0001583	missense	55862						catalytic activity	g.chr6:127611373T>C	AK025796	CCDS34530.1, CCDS43504.1, CCDS47471.1, CCDS47472.1, CCDS55054.1	6q22.33	2011-12-12	2010-04-30		ENSG00000093144	ENSG00000093144			21489	protein-coding gene	gene with protein product		612136	"""enoyl Coenzyme A hydratase domain containing 1"""			22016388	Standard	NM_001002030		Approved	dJ351K20.2	uc003qax.3	Q9NTX5	OTTHUMG00000015523	ENST00000531967.1:c.565A>G	6.37:g.127611373T>C	ENSP00000436585:p.Ile189Val					ECHDC1_uc003qaz.3_Missense_Mutation_p.I183V|ECHDC1_uc010key.2_Missense_Mutation_p.I108V|ECHDC1_uc003qay.3_3'UTR|ECHDC1_uc010kez.2_3'UTR|ECHDC1_uc010kex.2_RNA	p.I189V	NM_001139510	NP_001132982	Q9NTX5	ECHD1_HUMAN		GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)	6	601	-			189					A6NFJ5|B7Z8S0|E9PEN7|E9PR31|F8W851|Q5TEF6|Q5TEF7|Q5TEG0|Q5TEG4|Q9NZ30|V9HW18	Missense_Mutation	SNP	ENST00000531967.1	37	c.565A>G	CCDS47471.1	.	.	.	.	.	.	.	.	.	.	T	11.30	1.598944	0.28445	.	.	ENSG00000093144	ENST00000454859;ENST00000531967;ENST00000368293;ENST00000474289;ENST00000454591;ENST00000309620;ENST00000430841	T;T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68;-0.68	5.65	1.89	0.25635	Crotonase, core (1);	0.050285	0.85682	D	0.000000	T	0.29620	0.0739	L	0.28694	0.88	0.30509	N	0.769643	B	0.21071	0.051	B	0.27500	0.08	T	0.07158	-1.0787	10	0.22109	T	0.4	.	1.7749	0.03019	0.1057:0.2171:0.2032:0.474	.	189	Q9NTX5	ECHD1_HUMAN	V	183;189;155;183;108;166;183	ENSP00000401751:I183V;ENSP00000436585:I189V;ENSP00000434908:I183V;ENSP00000404866:I108V;ENSP00000311115:I166V;ENSP00000402492:I183V	ENSP00000311115:I166V	I	-	1	0	ECHDC1	127653066	0.980000	0.34600	0.504000	0.27639	0.993000	0.82548	1.459000	0.35234	0.424000	0.26061	0.533000	0.62120	ATA		0.413	ECHDC1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042131.2				10	84	0	0	0	0.006214	0	10	84		
BCLAF1	9774	broad.mit.edu	37	6	136600967	136600967	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:136600967G>T	ENST00000531224.1	-	3	290	c.38C>A	c.(37-39)tCa>tAa	p.S13*	BCLAF1_ENST00000392348.2_Nonsense_Mutation_p.S13*|BCLAF1_ENST00000527536.1_Nonsense_Mutation_p.S13*|BCLAF1_ENST00000530767.1_Nonsense_Mutation_p.S13*|BCLAF1_ENST00000527759.1_Nonsense_Mutation_p.S13*|BCLAF1_ENST00000353331.4_Nonsense_Mutation_p.S13*	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	13					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCTAGACTTTGACCTTGAAGA	0.303																																					Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1		NaN																	0				ovary(1)	1						c.(37-39)TCA>TAA		BCL2-associated transcription factor 1 isoform							88.0	79.0	82.0					6																	136600967		2203	4300	6503	SO:0001587	stop_gained	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136600967G>T	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.38C>A	6.37:g.136600967G>T	ENSP00000435210:p.Ser13*					BCLAF1_uc003qgw.1_Nonsense_Mutation_p.S13*|BCLAF1_uc003qgy.1_Nonsense_Mutation_p.S13*|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Nonsense_Mutation_p.S13*	p.S13*	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	3	291	-	Colorectal(23;0.24)		13					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Nonsense_Mutation	SNP	ENST00000531224.1	37	c.38C>A	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	G	35	5.459761	0.96240	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	.	.	.	5.67	5.67	0.87782	.	0.000000	0.56097	D	0.000031	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.6621	20.1358	0.98028	0.0:0.0:1.0:0.0	.	.	.	.	X	13	.	ENSP00000229446:S13X	S	-	2	0	BCLAF1	136642660	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.504000	0.81646	2.833000	0.97629	0.585000	0.79938	TCA		0.303	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2		NM_014739		9	75	1	0	1.12685e-05	0.004482	1.18319e-05	9	75		
SASH1	23328	broad.mit.edu	37	6	148864865	148864865	+	Silent	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:148864865C>G	ENST00000367467.3	+	18	2734	c.2259C>G	c.(2257-2259)ccC>ccG	p.P753P		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	753					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CCACCGAGCCCAGCTTGAAGT	0.463																																						uc003qme.1		NaN																	0				central_nervous_system(1)	1						c.(2257-2259)CCC>CCG		SAM and SH3 domain containing 1							61.0	62.0	62.0					6																	148864865		2203	4300	6503	SO:0001819	synonymous_variant	23328						protein binding	g.chr6:148864865C>G	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.2259C>G	6.37:g.148864865C>G						SASH1_uc011eeb.1_Silent_p.P514P|SASH1_uc003qmf.1_Silent_p.P163P	p.P753P	NM_015278	NP_056093	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	18	2734	+		Ovarian(120;0.0169)	753					Q5TGN5|Q8TAI0|Q9H7R7	Silent	SNP	ENST00000367467.3	37	c.2259C>G	CCDS5212.1																																																																																				0.463	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1		NM_015278		21	93	0	0	0	0.00278	0	21	93		
GINM1	116254	broad.mit.edu	37	6	149901812	149901812	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:149901812A>C	ENST00000367419.5	+	6	791	c.670A>C	c.(670-672)Aag>Cag	p.K224Q		NM_138785.3	NP_620140.1	Q9NU53	GINM1_HUMAN	glycoprotein integral membrane 1	224						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											TTTACCTGGCAAGTTACCTGA	0.398																																						uc003qmq.1		NaN																	0					0						c.(670-672)AAG>CAG		hypothetical protein LOC116254 precursor							126.0	112.0	117.0					6																	149901812		2203	4300	6503	SO:0001583	missense	116254					integral to membrane		g.chr6:149901812A>C	BC014320	CCDS5216.1	6q24.3	2012-07-20	2012-07-20	2012-07-20	ENSG00000055211	ENSG00000055211			21074	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 72"""	C6orf72			Standard	NM_138785		Approved	dJ12G14.2	uc003qmq.1	Q9NU53	OTTHUMG00000015789	ENST00000367419.5:c.670A>C	6.37:g.149901812A>C	ENSP00000356389:p.Lys224Gln					C6orf72_uc010kie.1_Missense_Mutation_p.K104Q	p.K224Q	NM_138785	NP_620140	Q9NU53	CF072_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.66e-12)|GBM - Glioblastoma multiforme(68;0.171)	6	697	+		Ovarian(120;0.0907)	224			Extracellular (Potential).		B2RDY7|E1P5A2	Missense_Mutation	SNP	ENST00000367419.5	37	c.670A>C	CCDS5216.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.613726	0.87359	.	.	ENSG00000055211	ENST00000367423;ENST00000367419;ENST00000433539	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.71762	0.3378	M	0.71581	2.175	0.49915	D	0.999835	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.73965	-0.3816	8	.	.	.	-7.9098	14.1255	0.65217	1.0:0.0:0.0:0.0	.	224;224	A8K037;Q9NU53	.;CF072_HUMAN	Q	104;224;98	.	.	K	+	1	0	C6orf72	149943505	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.808000	0.75206	2.082000	0.62665	0.459000	0.35465	AAG		0.398	GINM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042644.1		NM_138785		6	107	0	0	0	0.001168	0	6	107		
AKAP12	9590	broad.mit.edu	37	6	151671634	151671634	+	Missense_Mutation	SNP	G	G	A	rs151321698	byFrequency	TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:151671634G>A	ENST00000253332.1	+	3	2297	c.2108G>A	c.(2107-2109)gGa>gAa	p.G703E	AKAP12_ENST00000354675.6_Missense_Mutation_p.G605E|AKAP12_ENST00000359755.5_Missense_Mutation_p.G598E|AKAP12_ENST00000402676.2_Missense_Mutation_p.G703E			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	703					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GAGGAAGGGGGACCAAAAGCA	0.502																																					Melanoma(141;1616 1805 10049 24534 51979)	uc011eep.1		NaN																	0				large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8						c.(2107-2109)GGA>GAA		A kinase (PRKA) anchor protein 12 isoform 1							93.0	102.0	99.0					6																	151671634		2203	4300	6503	SO:0001583	missense	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151671634G>A	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.2108G>A	6.37:g.151671634G>A	ENSP00000253332:p.Gly703Glu					AKAP12_uc003qoe.2_Missense_Mutation_p.G703E|AKAP12_uc003qof.2_Missense_Mutation_p.G605E|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.G598E	p.G703E	NM_005100	NP_005091	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	2348	+		Ovarian(120;0.125)	703					O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	c.2108G>A	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	G	1.957	-0.439854	0.04636	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.06849	3.25;3.25;3.26;3.26	5.42	0.378	0.16204	.	0.574345	0.14611	N	0.309003	T	0.01320	0.0043	L	0.28400	0.85	0.09310	N	1	B;B;B	0.27997	0.197;0.197;0.125	B;B;B	0.25140	0.058;0.058;0.026	T	0.45906	-0.9229	10	0.02654	T	1	.	11.3219	0.49428	0.1301:0.5714:0.2985:0.0	.	598;605;703	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	E	703;703;605;598	ENSP00000384537:G703E;ENSP00000253332:G703E;ENSP00000346702:G605E;ENSP00000352794:G598E	ENSP00000253332:G703E	G	+	2	0	AKAP12	151713327	0.003000	0.15002	0.001000	0.08648	0.007000	0.05969	0.005000	0.13129	-0.247000	0.09597	-0.211000	0.12701	GGA		0.502	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1				17	150	0	0	0	0.00499	0	17	150		
SYNE1	23345	broad.mit.edu	37	6	152621819	152621819	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:152621819C>G	ENST00000367255.5	-	93	18240	c.17639G>C	c.(17638-17640)cGc>cCc	p.R5880P	SYNE1_ENST00000423061.1_Missense_Mutation_p.R5809P|SYNE1_ENST00000356820.4_Missense_Mutation_p.R404P|SYNE1_ENST00000448038.1_Missense_Mutation_p.R5809P|SYNE1_ENST00000265368.4_Missense_Mutation_p.R5880P|SYNE1_ENST00000341594.5_Missense_Mutation_p.R5492P	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5880					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGAAGGGGAGCGACAGGCAGG	0.537										HNSCC(10;0.0054)																												uc010kiw.2		NaN																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(17638-17640)CGC>CCC		spectrin repeat containing, nuclear envelope 1							115.0	96.0	102.0					6																	152621819		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152621819C>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.17639G>C	6.37:g.152621819C>G	ENSP00000356224:p.Arg5880Pro	HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Missense_Mutation_p.R404P|SYNE1_uc003qos.3_Missense_Mutation_p.R404P|SYNE1_uc003qot.3_Missense_Mutation_p.R5809P|SYNE1_uc003qou.3_Missense_Mutation_p.R5880P|SYNE1_uc010kiy.1_Intron	p.R5880P	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	93	18241	-		Ovarian(120;0.0955)	5880			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.17639G>C	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	15.14	2.746410	0.49257	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000537033	T;T;T;T;T;T	0.61742	0.17;0.2;0.08;0.13;0.34;2.41	5.63	4.75	0.60458	.	0.000000	0.56097	D	0.000035	T	0.38612	0.1047	L	0.47716	1.5	0.53688	D	0.999977	B;B;B	0.24043	0.024;0.024;0.096	B;B;B	0.21546	0.016;0.016;0.035	T	0.35475	-0.9787	10	0.46703	T	0.11	.	16.7242	0.85417	0.0:0.8708:0.1292:0.0	.	5880;5880;5809	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	P	5880;5809;5880;5809;5492;404;102	ENSP00000356224:R5880P;ENSP00000396024:R5809P;ENSP00000265368:R5880P;ENSP00000390975:R5809P;ENSP00000341887:R5492P;ENSP00000349276:R404P	ENSP00000265368:R5880P	R	-	2	0	SYNE1	152663512	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.837000	0.55820	1.354000	0.45846	0.650000	0.86243	CGC		0.537	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2		NM_182961		6	74	0	0	0	0.004482	0	6	74		
SYNE1	23345	broad.mit.edu	37	6	152665261	152665261	+	Missense_Mutation	SNP	C	C	A	rs4645434	byFrequency	TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:152665261C>A	ENST00000367255.5	-	74	12781	c.12180G>T	c.(12178-12180)gaG>gaT	p.E4060D	SYNE1_ENST00000423061.1_Missense_Mutation_p.E3989D|SYNE1_ENST00000448038.1_Missense_Mutation_p.E3989D|SYNE1_ENST00000265368.4_Missense_Mutation_p.E4060D|SYNE1_ENST00000341594.5_Missense_Mutation_p.E3925D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4060			E -> D (in dbSNP:rs4645434).		cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.E4060D(3)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GAGGACTTGGCTCTAAATCCG	0.498										HNSCC(10;0.0054)			C|||	2732	0.545527	0.4138	0.6182	5008	,	,		18310	0.6488		0.6024	False		,,,				2504	0.5072					uc010kiw.2		NaN																	3	Substitution - Missense(3)	p.E4060D(1)	skin(2)|central_nervous_system(1)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(12178-12180)GAG>GAT		spectrin repeat containing, nuclear envelope 1		C	ASP/GLU,ASP/GLU	2065,2341	569.8+/-382.7	487,1091,625	106.0	102.0	103.0		11967,12180	-1.2	0.0	6	dbSNP_111	103	5313,3287	647.1+/-400.3	1664,1985,651	yes	missense,missense	SYNE1	NM_033071.3,NM_182961.3	45,45	2151,3076,1276	AA,AC,CC		38.2209,46.8679,43.2723	benign,benign	3989/8750,4060/8798	152665261	7378,5628	2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152665261C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.12180G>T	6.37:g.152665261C>A	ENSP00000356224:p.Glu4060Asp	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.E3989D|SYNE1_uc003qou.3_Missense_Mutation_p.E4060D|SYNE1_uc010kja.1_Missense_Mutation_p.E765D	p.E4060D	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	74	12782	-		Ovarian(120;0.0955)	4060			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.12180G>T	CCDS5236.2	1271	0.581959706959707	217	0.4410569105691057	222	0.6132596685082873	373	0.6520979020979021	459	0.6055408970976254	C	6.405	0.442830	0.12164	0.468679	0.617791	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33	5.76	-1.25	0.09405	.	0.176957	0.39341	N	0.001392	T	0.05914	0.0154	N	0.14661	0.345	0.22911	P	0.99857779	B;B;B;B	0.28208	0.203;0.203;0.203;0.082	B;B;B;B	0.24541	0.031;0.031;0.031;0.054	T	0.36187	-0.9758	9	0.11182	T	0.66	.	10.9634	0.47397	0.0:0.4861:0.0:0.5139	rs4645434;rs52832929;rs56482475;rs57199459;rs4645434	4060;4060;4060;3989	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	D	4060;3989;4060;3989;3925	ENSP00000356224:E4060D;ENSP00000396024:E3989D;ENSP00000265368:E4060D;ENSP00000390975:E3989D;ENSP00000341887:E3925D	ENSP00000265368:E4060D	E	-	3	2	SYNE1	152706954	0.996000	0.38824	0.016000	0.15963	0.190000	0.23558	0.426000	0.21363	-0.234000	0.09782	-0.749000	0.03505	GAG		0.498	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2		NM_182961		6	122	1	0	0.00116845	0.001168	0.0011947	6	122		
CARD11	84433	broad.mit.edu	37	7	2954983	2954983	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr7:2954983C>G	ENST00000396946.4	-	21	3130	c.2727G>C	c.(2725-2727)aaG>aaC	p.K909N		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	909					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TCCGCTTATACTTGTTCTCGG	0.602			Mis		DLBCL																																	uc003smv.2		NaN		Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		0				haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50						c.(2725-2727)AAG>AAC		caspase recruitment domain family, member 11							78.0	73.0	74.0					7																	2954983		2203	4300	6503	SO:0001583	missense	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2954983C>G	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.2727G>C	7.37:g.2954983C>G	ENSP00000380150:p.Lys909Asn						p.K909N	NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	21	3131	-		Ovarian(82;0.0115)	909					A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	c.2727G>C	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	C	16.45	3.127242	0.56721	.	.	ENSG00000198286	ENST00000396946	T	0.33654	1.4	4.67	2.47	0.30058	.	0.000000	0.85682	D	0.000000	T	0.24547	0.0595	N	0.08118	0	0.46849	D	0.999224	D	0.55605	0.972	P	0.50136	0.632	T	0.07290	-1.0780	10	0.66056	D	0.02	-39.3472	8.5749	0.33592	0.0:0.718:0.0:0.282	.	909	Q9BXL7	CAR11_HUMAN	N	909	ENSP00000380150:K909N	ENSP00000380150:K909N	K	-	3	2	CARD11	2921509	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	0.988000	0.29616	0.959000	0.37980	0.511000	0.50034	AAG		0.602	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4		NM_032415		9	86	0	0	0	0.008291	0	9	86		
CARD11	84433	broad.mit.edu	37	7	2956960	2956960	+	Silent	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr7:2956960G>C	ENST00000396946.4	-	20	3070	c.2667C>G	c.(2665-2667)ctC>ctG	p.L889L		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	889					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TTGCTCGCGAGAGACGGGGGC	0.557			Mis		DLBCL																																	uc003smv.2		NaN		Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		0				haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50						c.(2665-2667)CTC>CTG		caspase recruitment domain family, member 11							39.0	52.0	48.0					7																	2956960		2203	4300	6503	SO:0001819	synonymous_variant	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2956960G>C	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.2667C>G	7.37:g.2956960G>C							p.L889L	NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	20	3071	-		Ovarian(82;0.0115)	889					A4D1Z7|Q2NKN7|Q548H3	Silent	SNP	ENST00000396946.4	37	c.2667C>G	CCDS5336.2																																																																																				0.557	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4		NM_032415		4	40	0	0	0	0.009096	0	4	40		
AGR3	155465	broad.mit.edu	37	7	16913456	16913456	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr7:16913456C>T	ENST00000310398.2	-	3	191	c.121G>A	c.(121-123)Gac>Aac	p.D41N	AGR3_ENST00000402239.3_Missense_Mutation_p.D41N	NM_176813.3	NP_789783.1	Q8TD06	AGR3_HUMAN	anterior gradient 3	41						extracellular region (GO:0005576)	dystroglycan binding (GO:0002162)			central_nervous_system(1)|kidney(8)|lung(2)|skin(1)|stomach(1)	13	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		CAAGTGATGTCATCTCCCCAT	0.373																																						uc003sts.2		NaN																	0					0						c.(121-123)GAC>AAC		breast cancer membrane protein 11 precursor							106.0	105.0	106.0					7																	16913456		2203	4300	6503	SO:0001583	missense	155465					extracellular region		g.chr7:16913456C>T	AY069977	CCDS5365.1	7p21.1	2013-07-31	2013-07-31		ENSG00000173467	ENSG00000173467		"""Protein disulfide isomerases"""	24167	protein-coding gene	gene with protein product	"""breast cancer membrane protein 11"", ""protein disulfide isomerase family A, member 18"""	609482	"""anterior gradient 3 homolog (Xenopus laevis)"""			12592373, 12477722	Standard	NM_176813		Approved	HAG3, hAG-3, BCMP11, PDIA18	uc003sts.3	Q8TD06	OTTHUMG00000128411	ENST00000310398.2:c.121G>A	7.37:g.16913456C>T	ENSP00000308606:p.Asp41Asn						p.D41N	NM_176813	NP_789783	Q8TD06	AGR3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.184)	3	194	-	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)		41					A4D120	Missense_Mutation	SNP	ENST00000310398.2	37	c.121G>A	CCDS5365.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.280609	0.23392	.	.	ENSG00000173467	ENST00000310398;ENST00000402239	T;T	0.46819	0.86;0.86	4.16	3.27	0.37495	Thioredoxin-like fold (2);	0.101360	0.41294	D	0.000909	T	0.29882	0.0747	N	0.22421	0.69	0.40170	D	0.977167	B	0.09022	0.002	B	0.08055	0.003	T	0.08186	-1.0734	10	0.18276	T	0.48	-0.0182	10.1663	0.42882	0.0:0.905:0.0:0.095	.	41	Q8TD06	AGR3_HUMAN	N	41	ENSP00000308606:D41N;ENSP00000386016:D41N	ENSP00000308606:D41N	D	-	1	0	AGR3	16879981	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.962000	0.49176	1.097000	0.41459	0.557000	0.71058	GAC		0.373	AGR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250191.2		NM_176813		9	126	0	0	0	0.004482	0	9	126		
OGDH	4967	broad.mit.edu	37	7	44746824	44746824	+	Splice_Site	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr7:44746824G>A	ENST00000222673.5	+	21	2675	c.2633G>A	c.(2632-2634)gGa>gAa	p.G878E	OGDH_ENST00000543843.1_Splice_Site_p.G829E|OGDH_ENST00000449767.1_Splice_Site_p.G874E|OGDH_ENST00000444676.1_Splice_Site_p.G893E|OGDH_ENST00000447398.1_Splice_Site_p.G889E|OGDH_ENST00000439616.2_Splice_Site_p.G728E	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	878					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	TCTCTTGTAGGAACCCACTTC	0.562																																						uc003tln.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(2632-2634)GGA>GAA		oxoglutarate dehydrogenase isoform 1 precursor	NADH(DB00157)						52.0	52.0	52.0					7																	44746824		2203	4300	6503	SO:0001630	splice_region_variant	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44746824G>A	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.2633-1G>A	7.37:g.44746824G>A						OGDH_uc011kbx.1_Missense_Mutation_p.G874E|OGDH_uc011kby.1_Missense_Mutation_p.G728E|OGDH_uc003tlp.2_Missense_Mutation_p.G889E|OGDH_uc011kbz.1_Missense_Mutation_p.G673E	p.G878E	NM_002541	NP_002532	Q02218	ODO1_HUMAN			21	2742	+			878					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Missense_Mutation	SNP	ENST00000222673.5	37	c.2633G>A	CCDS34627.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.542504	0.85917	.	.	ENSG00000105953	ENST00000439616;ENST00000449767;ENST00000447398;ENST00000444676;ENST00000222673;ENST00000543843	T;T;T;T;T;T	0.11277	2.79;2.79;2.79;2.79;2.79;2.79	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.24353	0.0590	M	0.71206	2.165	0.80722	D	1	P;P;P;P;P	0.48764	0.858;0.915;0.531;0.742;0.703	P;P;P;P;P	0.49597	0.616;0.616;0.594;0.594;0.594	T	0.00456	-1.1728	9	.	.	.	.	18.9355	0.92583	0.0:0.0:1.0:0.0	.	673;728;874;889;878	B4E3E9;E9PFG7;E9PBM1;E9PDF2;Q02218	.;.;.;.;ODO1_HUMAN	E	728;874;889;893;878;829	ENSP00000398576:G728E;ENSP00000392878:G874E;ENSP00000388183:G889E;ENSP00000414662:G893E;ENSP00000222673:G878E;ENSP00000443821:G829E	.	G	+	2	0	OGDH	44713349	1.000000	0.71417	0.998000	0.56505	0.905000	0.53344	9.824000	0.99380	2.580000	0.87095	0.491000	0.48974	GGA		0.562	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			Missense_Mutation	6	102	0	0	0	0.001984	0	6	102		
TPST1	8460	broad.mit.edu	37	7	65817531	65817531	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr7:65817531G>C	ENST00000304842.5	+	4	1509	c.1084G>C	c.(1084-1086)Gaa>Caa	p.E362Q	TPST1_ENST00000480281.1_3'UTR	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	362					inflammatory response (GO:0006954)|peptidyl-tyrosine sulfation (GO:0006478)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						CTTTCTTAAAGAAAAACCACA	0.383																																						uc003tuw.2		NaN																	0					0						c.(1084-1086)GAA>CAA		tyrosylprotein sulfotransferase 1							127.0	126.0	126.0					7																	65817531		2203	4300	6503	SO:0001583	missense	8460				inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity	g.chr7:65817531G>C	AF038009	CCDS5533.1	7q11.21	2012-12-13			ENSG00000169902	ENSG00000169902	2.8.2.20	"""Sulfotransferases, membrane-bound"""	12020	protein-coding gene	gene with protein product	"""transport and golgi organization 13 homolog A (Drosophila)"""	603125				9501187	Standard	NM_003596		Approved	TANGO13A	uc003tuw.3	O60507	OTTHUMG00000023871	ENST00000304842.5:c.1084G>C	7.37:g.65817531G>C	ENSP00000302413:p.Glu362Gln					TPST1_uc010kzy.2_RNA|TPST1_uc010kzz.2_Missense_Mutation_p.E362Q|TPST1_uc010laa.2_Intron	p.E362Q	NM_003596	NP_003587	O60507	TPST1_HUMAN			4	1436	+			362			Lumenal (Potential).		A4D2M0|Q6FGM7	Missense_Mutation	SNP	ENST00000304842.5	37	c.1084G>C	CCDS5533.1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.645267	0.29246	.	.	ENSG00000169902	ENST00000304842	.	.	.	5.01	5.01	0.66863	.	0.051891	0.85682	D	0.000000	T	0.49660	0.1570	L	0.47716	1.5	0.33123	D	0.54206	B	0.17268	0.021	B	0.17722	0.019	T	0.54084	-0.8346	9	0.22109	T	0.4	-4.9794	13.9909	0.64367	0.0:0.0:1.0:0.0	.	362	O60507	TPST1_HUMAN	Q	362	.	ENSP00000302413:E362Q	E	+	1	0	TPST1	65454966	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.806000	0.62569	2.770000	0.95276	0.650000	0.86243	GAA		0.383	TPST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251705.2		NM_003596		22	187	0	0	0	0.003954	0	22	187		
PCLO	27445	broad.mit.edu	37	7	82585934	82585934	+	Silent	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr7:82585934C>T	ENST00000333891.9	-	5	4672	c.4335G>A	c.(4333-4335)caG>caA	p.Q1445Q	PCLO_ENST00000423517.2_Silent_p.Q1445Q	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGTCTTTAGGCTGTTCAGGAG	0.373																																						uc003uhx.2		NaN																	0				ovary(7)	7						c.(4333-4335)CAG>CAA		piccolo isoform 1							121.0	113.0	115.0					7																	82585934		1819	4075	5894	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82585934C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.4335G>A	7.37:g.82585934C>T						PCLO_uc003uhv.2_Silent_p.Q1445Q	p.Q1445Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			5	4624	-			1376						Silent	SNP	ENST00000333891.9	37	c.4335G>A	CCDS47630.1																																																																																				0.373	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5		NM_014510		33	57	0	0	0	0.010818	0	33	57		
FBXL13	222235	broad.mit.edu	37	7	102669092	102669092	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr7:102669092G>A	ENST00000313221.4	-	4	598	c.172C>T	c.(172-174)Cat>Tat	p.H58Y	FBXL13_ENST00000379308.3_Missense_Mutation_p.H58Y|FBXL13_ENST00000455112.2_Missense_Mutation_p.H58Y|FBXL13_ENST00000379306.3_Missense_Mutation_p.H58Y|FBXL13_ENST00000471074.1_Intron|FBXL13_ENST00000456695.1_Missense_Mutation_p.H58Y|FBXL13_ENST00000393772.2_Missense_Mutation_p.H58Y|RP11-645N11.3_ENST00000447336.1_RNA|FBXL13_ENST00000436908.1_Missense_Mutation_p.H58Y|FBXL13_ENST00000379305.3_Missense_Mutation_p.H58Y	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	58										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TGCCAGTGATGAAATACAGAT	0.318																																						uc003vaq.2		NaN																	0					0						c.(172-174)CAT>TAT		F-box and leucine-rich repeat protein 13 isoform							90.0	85.0	86.0					7																	102669092		2203	4300	6503	SO:0001583	missense	222235							g.chr7:102669092G>A	BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"""F-boxes / Leucine-rich repeats"""	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.172C>T	7.37:g.102669092G>A	ENSP00000321927:p.His58Tyr					FBXL13_uc010lir.1_Missense_Mutation_p.H58Y|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Missense_Mutation_p.H58Y|FBXL13_uc003vav.2_Intron	p.H58Y	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN			4	599	-			58					C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Missense_Mutation	SNP	ENST00000313221.4	37	c.172C>T	CCDS5726.1	.	.	.	.	.	.	.	.	.	.	G	9.193	1.026416	0.19512	.	.	ENSG00000161040	ENST00000393772;ENST00000379308;ENST00000379306;ENST00000379305;ENST00000436908;ENST00000313221;ENST00000456695;ENST00000455112;ENST00000440067	T;T;T;T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01	3.94	-3.15	0.05233	.	1.475650	0.04212	N	0.331890	T	0.33760	0.0874	L	0.51422	1.61	0.09310	N	1	B;B;B	0.11235	0.003;0.004;0.002	B;B;B	0.08055	0.003;0.003;0.002	T	0.20472	-1.0274	10	0.36615	T	0.2	.	4.9966	0.14243	0.6075:0.0:0.2239:0.1686	.	58;58;58	Q8NEE6-3;Q8NEE6-2;Q8NEE6	.;.;FXL13_HUMAN	Y	58;58;58;58;58;58;58;58;148	ENSP00000377367:H58Y;ENSP00000368610:H58Y;ENSP00000368608:H58Y;ENSP00000368607:H58Y;ENSP00000388608:H58Y;ENSP00000321927:H58Y;ENSP00000409716:H58Y;ENSP00000391550:H58Y;ENSP00000390126:H148Y	ENSP00000321927:H58Y	H	-	1	0	FBXL13	102456328	0.001000	0.12720	0.000000	0.03702	0.619000	0.37552	-0.019000	0.12546	-0.664000	0.05324	0.460000	0.39030	CAT		0.318	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348001.1		NM_145032		8	101	0	0	0	0.00308	0	8	101		
TAS2R39	259285	broad.mit.edu	37	7	142881419	142881419	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr7:142881419A>C	ENST00000446620.1	+	1	908	c.908A>C	c.(907-909)tAc>tCc	p.Y303S		NM_176881.2	NP_795362.2	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	303					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)	p.Y303S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					ATGGCTGCCTACCCTGCCAGC	0.458																																						uc011ksw.1		NaN																	1	Substitution - Missense(1)		prostate(1)	skin(1)	1						c.(907-909)TAC>TCC		taste receptor, type 2, member 39							58.0	56.0	56.0					7																	142881419		1900	4123	6023	SO:0001583	missense	259285				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:142881419A>C	AF494230	CCDS47729.1	7q34	2012-08-22			ENSG00000236398	ENSG00000236398		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18886	protein-coding gene	gene with protein product						12379855	Standard	NM_176881		Approved		uc011ksw.2	P59534	OTTHUMG00000152636	ENST00000446620.1:c.908A>C	7.37:g.142881419A>C	ENSP00000405095:p.Tyr303Ser						p.Y303S	NM_176881	NP_795362	P59534	T2R39_HUMAN			1	908	+	Melanoma(164;0.059)		303			Helical; Name=7; (Potential).		A4FUI7|Q3ZCN6|Q645W4	Missense_Mutation	SNP	ENST00000446620.1	37	c.908A>C	CCDS47729.1	.	.	.	.	.	.	.	.	.	.	A	14.17	2.454346	0.43634	.	.	ENSG00000236398	ENST00000446620	T	0.01126	5.3	4.8	2.26	0.28386	.	.	.	.	.	T	0.06096	0.0158	M	0.88704	2.975	0.29713	N	0.839229	D	0.89917	1.0	D	0.83275	0.996	T	0.17137	-1.0379	9	0.87932	D	0	.	2.4053	0.04411	0.5972:0.1599:0.0891:0.1539	.	303	P59534	T2R39_HUMAN	S	303	ENSP00000405095:Y303S	ENSP00000405095:Y303S	Y	+	2	0	TAS2R39	142591541	0.873000	0.30073	0.435000	0.26784	0.537000	0.34900	2.502000	0.45398	0.363000	0.24346	0.528000	0.53228	TAC		0.458	TAS2R39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327090.2		NM_176881		11	51	0	0	0	0.004656	0	11	51		
OR6B1	135946	broad.mit.edu	37	7	143701410	143701410	+	Silent	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr7:143701410C>G	ENST00000408922.2	+	1	389	c.321C>G	c.(319-321)ctC>ctG	p.L107L		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					TCATTGCTCTCATGTGCACAG	0.483																																						uc003wdt.1		NaN																	0				ovary(1)	1						c.(319-321)CTC>CTG		olfactory receptor, family 6, subfamily B,							142.0	143.0	143.0					7																	143701410		2159	4281	6440	SO:0001819	synonymous_variant	135946				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143701410C>G		CCDS43667.1	7q33-q35	2012-08-09			ENSG00000221813	ENSG00000221813		"""GPCR / Class A : Olfactory receptors"""	8354	protein-coding gene	gene with protein product							Standard	NM_001005281		Approved	OR7-3	uc003wdt.1	O95007	OTTHUMG00000157765	ENST00000408922.2:c.321C>G	7.37:g.143701410C>G							p.L107L	NM_001005281	NP_001005281	O95007	OR6B1_HUMAN			1	321	+	Melanoma(164;0.0783)		107			Helical; Name=3; (Potential).		A4D2G2|B9EH47|Q6IFP6|Q96R38	Silent	SNP	ENST00000408922.2	37	c.321C>G	CCDS43667.1																																																																																				0.483	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349566.1				16	262	0	0	0	0.004007	0	16	262		
GBX1	2636	broad.mit.edu	37	7	150845868	150845868	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr7:150845868G>A	ENST00000297537.4	-	2	899	c.900C>T	c.(898-900)ctC>ctT	p.L300L	GBX1_ENST00000475831.1_5'Flank	NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	gastrulation brain homeobox 1	300					adult walking behavior (GO:0007628)|neuron fate commitment (GO:0048663)|proprioception (GO:0019230)|regulation of transcription, DNA-templated (GO:0006355)|sensory neuron axon guidance (GO:0097374)|spinal cord motor neuron differentiation (GO:0021522)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCACCTCACTGAGCTTGAGGG	0.522																																						uc011kvg.1		NaN																	0					0						c.(898-900)CTC>CTT		gastrulation brain homeo box 1							75.0	79.0	77.0					7																	150845868		2177	4289	6466	SO:0001819	synonymous_variant	2636					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:150845868G>A	L11239	CCDS43682.1	7q36.1	2012-03-09	2005-12-22		ENSG00000164900	ENSG00000164900		"""Homeoboxes / ANTP class : HOXL subclass"""	4185	protein-coding gene	gene with protein product		603354	"""gastrulation brain homeo box 1"""			7903253	Standard	NM_001098834		Approved		uc011kvg.2	Q14549	OTTHUMG00000158751	ENST00000297537.4:c.900C>T	7.37:g.150845868G>A							p.L300L	NM_001098834	NP_001092304	Q14549	GBX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	1132	-			300			Homeobox.			Silent	SNP	ENST00000297537.4	37	c.900C>T	CCDS43682.1																																																																																				0.522	GBX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352029.1				9	160	0	0	0	0.006214	0	9	160		
CDCA2	157313	broad.mit.edu	37	8	25365244	25365244	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr8:25365244G>C	ENST00000330560.3	+	15	3539	c.3062G>C	c.(3061-3063)aGa>aCa	p.R1021T	CDCA2_ENST00000380665.3_Missense_Mutation_p.R1006T|CDCA2_ENST00000521098.2_3'UTR	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	1021					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		AATGGAGAAAGAAAGCAGTAA	0.453																																						uc003xep.1		NaN																	0					0						c.(3061-3063)AGA>ACA		cell division cycle associated 2							64.0	66.0	65.0					8																	25365244		2203	4300	6503	SO:0001583	missense	157313				cell division|mitosis	cytoplasm|nucleus		g.chr8:25365244G>C	BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 81"""					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.3062G>C	8.37:g.25365244G>C	ENSP00000328228:p.Arg1021Thr					PPP2R2A_uc003xek.2_Intron|CDCA2_uc011lae.1_3'UTR|CDCA2_uc003xeq.1_Missense_Mutation_p.R1006T|CDCA2_uc003xer.1_Missense_Mutation_p.R684T	p.R1021T	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)	15	3541	+		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)	1021					Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Missense_Mutation	SNP	ENST00000330560.3	37	c.3062G>C	CCDS6049.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.285888	0.23478	.	.	ENSG00000184661	ENST00000330560;ENST00000380665;ENST00000434814	T;T	0.34472	1.37;1.36	5.88	-4.66	0.03329	.	5.127660	0.00357	N	0.000036	T	0.20780	0.0500	N	0.22421	0.69	0.09310	N	1	B;B	0.18741	0.03;0.03	B;B	0.19666	0.026;0.019	T	0.10497	-1.0627	10	0.33141	T	0.24	2.0122	1.6247	0.02720	0.3188:0.3588:0.1219:0.2005	.	1006;1021	E9PEI0;Q69YH5	.;CDCA2_HUMAN	T	1021;1006;420	ENSP00000328228:R1021T;ENSP00000370040:R1006T	ENSP00000328228:R1021T	R	+	2	0	CDCA2	25421161	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-1.041000	0.03542	-0.382000	0.07870	-0.867000	0.03001	AGA		0.453	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3		NM_152562		6	82	0	0	0	0.001168	0	6	82		
TSPYL5	85453	broad.mit.edu	37	8	98288924	98288924	+	Silent	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr8:98288924C>T	ENST00000322128.3	-	1	1252	c.1149G>A	c.(1147-1149)ttG>ttA	p.L383L		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	383					cellular response to gamma radiation (GO:0071480)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	nucleus (GO:0005634)				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					CCCCTTCACTCAAAAGGTAGA	0.483																																						uc003yhy.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(1147-1149)TTG>TTA		TSPY-like 5							172.0	185.0	180.0					8																	98288924		2203	4300	6503	SO:0001819	synonymous_variant	85453				cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding	g.chr8:98288924C>T	AB051537	CCDS34927.1	8q22.1	2011-05-24			ENSG00000180543	ENSG00000180543			29367	protein-coding gene	gene with protein product		614721				11214970	Standard	NM_033512		Approved	KIAA1750	uc003yhy.3	Q86VY4	OTTHUMG00000164857	ENST00000322128.3:c.1149G>A	8.37:g.98288924C>T							p.L383L	NM_033512	NP_277047	Q86VY4	TSYL5_HUMAN			1	1253	-	Breast(36;2.56e-06)		383					B3KRF0|Q9C0B3	Silent	SNP	ENST00000322128.3	37	c.1149G>A	CCDS34927.1																																																																																				0.483	TSPYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380611.1		NM_033512		42	321	0	0	0	0.00361	0	42	321		
OXR1	55074	broad.mit.edu	37	8	107719297	107719297	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr8:107719297G>C	ENST00000442977.2	+	8	1650	c.1551G>C	c.(1549-1551)caG>caC	p.Q517H	OXR1_ENST00000497705.1_Missense_Mutation_p.Q449H|OXR1_ENST00000445937.1_Missense_Mutation_p.Q516H|OXR1_ENST00000531443.1_Missense_Mutation_p.Q516H|OXR1_ENST00000452423.2_Missense_Mutation_p.Q6H|OXR1_ENST00000312046.6_Missense_Mutation_p.Q509H|OXR1_ENST00000517566.2_Missense_Mutation_p.Q516H	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	517					adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)			NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			AAACTAAACAGCAAAGGGAAA	0.368																																						uc011lht.1		NaN																	0					0						c.(1549-1551)CAG>CAC		oxidation resistance 1 isoform 1							87.0	85.0	86.0					8																	107719297		2203	4300	6503	SO:0001583	missense	55074				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion		g.chr8:107719297G>C	AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 3"""	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.1551G>C	8.37:g.107719297G>C	ENSP00000405424:p.Gln517His					OXR1_uc003ymf.2_Missense_Mutation_p.Q516H|OXR1_uc011lhu.1_Missense_Mutation_p.Q509H|OXR1_uc010mcg.2_Intron|OXR1_uc010mch.2_Missense_Mutation_p.Q214H|OXR1_uc003ymg.1_Missense_Mutation_p.Q449H|OXR1_uc003ymi.1_Missense_Mutation_p.Q428H	p.Q517H	NM_018002	NP_060472	Q8N573	OXR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)		8	1650	+			517					A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Missense_Mutation	SNP	ENST00000442977.2	37	c.1551G>C	CCDS56548.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.68|16.68	3.189636|3.189636	0.57909|0.57909	.|.	.|.	ENSG00000164830|ENSG00000164830	ENST00000445937;ENST00000531443;ENST00000517566;ENST00000452423;ENST00000442977;ENST00000497705;ENST00000312046|ENST00000519415	T;T;T;T;T;T;T|.	0.32753|.	2.58;2.58;2.6;2.1;2.6;1.44;2.58|.	5.62|5.62	2.32|2.32	0.28847|0.28847	.|.	0.299009|.	0.31092|.	N|.	0.008268|.	T|T	0.58206|0.58206	0.2106|0.2106	M|M	0.70595|0.70595	2.14|2.14	0.34122|0.34122	D|D	0.664193|0.664193	D;D;D;D;D|.	0.76494|.	0.998;0.994;0.994;0.999;0.997|.	D;P;P;D;D|.	0.76071|.	0.953;0.825;0.825;0.987;0.916|.	T|T	0.64245|0.64245	-0.6453|-0.6453	10|5	0.62326|.	D|.	0.03|.	-24.1717|-24.1717	8.2836|8.2836	0.31915|0.31915	0.559:0.0:0.441:0.0|0.559:0.0:0.441:0.0	.|.	509;517;516;449;516|.	Q8N573-2;Q8N573;D3HIS6;Q8N573-3;Q8N573-5|.	.;OXR1_HUMAN;.;.;.|.	H|T	516;516;516;6;517;449;509|230	ENSP00000402918:Q516H;ENSP00000431966:Q516H;ENSP00000429205:Q516H;ENSP00000395032:Q6H;ENSP00000405424:Q517H;ENSP00000431014:Q449H;ENSP00000311026:Q509H|.	ENSP00000311026:Q509H|.	Q|S	+|+	3|2	2|0	OXR1|OXR1	107788473|107788473	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	0.819000|0.819000	0.27308|0.27308	0.247000|0.247000	0.21414|0.21414	-0.218000|-0.218000	0.12543|0.12543	CAG|AGC		0.368	OXR1-201	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_181354		12	151	0	0	0	0.010729	0	12	151		
ABRA	137735	broad.mit.edu	37	8	107773566	107773566	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr8:107773566C>T	ENST00000311955.3	-	2	899	c.845G>A	c.(844-846)gGa>gAa	p.G282E		NM_139166.4	NP_631905.1			actin-binding Rho activating protein											breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			GCCCTCATCTCCTTTGTGTAG	0.517																																						uc003ymm.3		NaN																	0				ovary(2)	2						c.(844-846)GGA>GAA		actin-binding Rho activating protein							112.0	95.0	101.0					8																	107773566		2203	4300	6503	SO:0001583	missense	137735				positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding	g.chr8:107773566C>T	AF503617	CCDS6305.1	8q23.1	2012-02-06			ENSG00000174429	ENSG00000174429			30655	protein-coding gene	gene with protein product	"""striated muscle activator of Rho-dependent signaling"""	609747				11983702	Standard	NM_139166		Approved	STARS	uc003ymm.4	Q8N0Z2	OTTHUMG00000164809	ENST00000311955.3:c.845G>A	8.37:g.107773566C>T	ENSP00000311436:p.Gly282Glu						p.G282E	NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)		2	899	-			282			Interaction with actin (By similarity).			Missense_Mutation	SNP	ENST00000311955.3	37	c.845G>A	CCDS6305.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.476000	0.84640	.	.	ENSG00000174429	ENST00000311955	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.83644	0.5299	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83968	0.0325	9	0.87932	D	0	-14.7401	20.6208	0.99490	0.0:1.0:0.0:0.0	.	282	Q8N0Z2	ABRA_HUMAN	E	282	.	ENSP00000311436:G282E	G	-	2	0	ABRA	107842742	1.000000	0.71417	0.882000	0.34594	0.426000	0.31534	7.818000	0.86416	2.882000	0.98803	0.655000	0.94253	GGA		0.517	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380416.1		NM_139166		75	100	0	0	0	0.00361	0	75	100		
PHF20L1	51105	broad.mit.edu	37	8	133827086	133827086	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr8:133827086G>C	ENST00000395386.2	+	10	1434	c.1135G>C	c.(1135-1137)Gat>Cat	p.D379H	PHF20L1_ENST00000395390.2_Missense_Mutation_p.D354H|PHF20L1_ENST00000220847.7_5'UTR	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	379							zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			ACAAGTCGAGGATTTGACGCT	0.348																																						uc003ytt.2		NaN																	0				ovary(2)	2						c.(1135-1137)GAT>CAT		PHD finger protein 20-like 1 isoform 1							110.0	107.0	108.0					8																	133827086		2203	4299	6502	SO:0001583	missense	51105						nucleic acid binding|zinc ion binding	g.chr8:133827086G>C	AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.1135G>C	8.37:g.133827086G>C	ENSP00000378784:p.Asp379His					PHF20L1_uc003yts.2_Missense_Mutation_p.D379H|PHF20L1_uc011lja.1_Missense_Mutation_p.D353H|PHF20L1_uc003ytu.1_RNA	p.D379H	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		10	1460	+	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		379					A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	ENST00000395386.2	37	c.1135G>C	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	G	18.82	3.706158	0.68615	.	.	ENSG00000129292	ENST00000395383;ENST00000361997;ENST00000395386;ENST00000315808;ENST00000395382;ENST00000395390	T;T;T;T;T	0.55234	0.6;0.53;1.25;0.57;1.21	5.98	5.98	0.97165	.	0.214863	0.49305	D	0.000154	T	0.58906	0.2155	N	0.24115	0.695	0.80722	D	1	D;D;D	0.63046	0.963;0.986;0.992	P;P;P	0.59761	0.74;0.733;0.863	T	0.60687	-0.7214	10	0.62326	D	0.03	-16.6132	19.4402	0.94817	0.0:0.0:1.0:0.0	.	354;379;379	F8W9L8;A8MW92;A8MW92-4	.;P20L1_HUMAN;.	H	383;354;379;379;249;354	ENSP00000378781:D383H;ENSP00000355301:D354H;ENSP00000378784:D379H;ENSP00000324519:D379H;ENSP00000378788:D354H	ENSP00000324519:D379H	D	+	1	0	PHF20L1	133896268	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.778000	0.75043	2.838000	0.97847	0.591000	0.81541	GAT		0.348	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3		NM_016018		21	167	0	0	0	0.005443	0	21	167		
HAUS6	54801	broad.mit.edu	37	9	19093277	19093277	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr9:19093277G>C	ENST00000380502.3	-	4	795	c.328C>G	c.(328-330)Caa>Gaa	p.Q110E	HAUS6_ENST00000380496.1_5'Flank	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	110					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCAACAACTTGAGGAAAGCTA	0.313																																						uc003znk.2		NaN																	0				ovary(2)	2						c.(328-330)CAA>GAA		HAUS augmin-like complex, subunit 6							60.0	55.0	57.0					9																	19093277		2203	4298	6501	SO:0001583	missense	54801				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle		g.chr9:19093277G>C	AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"""HAUS augmin-like complex subunits"""	25948	protein-coding gene	gene with protein product		613433	"""family with sequence similarity 29, member A"""	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.328C>G	9.37:g.19093277G>C	ENSP00000369871:p.Gln110Glu					HAUS6_uc003znl.1_5'UTR	p.Q110E	NM_017645	NP_060115	Q7Z4H7	HAUS6_HUMAN			4	581	-			110					B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	ENST00000380502.3	37	c.328C>G	CCDS6489.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.269951	0.59540	.	.	ENSG00000147874	ENST00000380502	T	0.26067	1.76	4.87	3.98	0.46160	.	0.168294	0.52532	D	0.000072	T	0.48642	0.1511	M	0.78637	2.42	0.80722	D	1	D	0.76494	0.999	D	0.69142	0.962	T	0.51568	-0.8689	10	0.72032	D	0.01	-3.8406	11.1531	0.48471	0.0915:0.0:0.9085:0.0	.	110	Q7Z4H7	HAUS6_HUMAN	E	110	ENSP00000369871:Q110E	ENSP00000369871:Q110E	Q	-	1	0	HAUS6	19083277	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.729000	0.47327	1.038000	0.40049	-0.244000	0.11960	CAA		0.313	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1		NM_017645		11	74	0	0	0	0.008291	0	11	74		
CDKN2A	1029	broad.mit.edu	37	9	21971111	21971111	+	Missense_Mutation	SNP	G	G	A	rs121913385		TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr9:21971111G>A	ENST00000304494.5	-	2	517	c.247C>T	c.(247-249)Cac>Tac	p.H83Y	CDKN2A_ENST00000361570.3_Missense_Mutation_p.A138V|CDKN2A_ENST00000479692.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000497750.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000494262.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000530628.2_Missense_Mutation_p.A97V|CDKN2A_ENST00000579755.1_Missense_Mutation_p.A97V|CDKN2A_ENST00000498124.1_Missense_Mutation_p.H83Y|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000579122.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000498628.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000446177.1_Missense_Mutation_p.H83Y	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	83			H -> N (in a lung tumor).|H -> Q (in dbSNP:rs34968276).|H -> Y (in a pancreas and a head and neck tumor).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.H83Y(30)|p.A138V(2)|p.H83fs*2(2)|p.H83N(1)|p.V82fs*62(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCAGCGTCGTGCACGGGTCGG	0.741	H83Y(CALU3_LUNG)|H83Y(HS944T_SKIN)|H83Y(JHH2_LIVER)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2	H83Y(CALU3_LUNG)|H83Y(JHH2_LIVER)|H83Y(HS944T_SKIN)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	17																	1403	Whole gene deletion(1316)|Unknown(44)|Substitution - Missense(33)|Deletion - Frameshift(6)|Deletion - In frame(3)|Complex - deletion inframe(1)	p.0?(1112)|p.H83Y(28)|p.?(13)|p.H83fs*2(2)|p.H83P(2)|p.H83N(1)|p.V82fs*62(1)|p.V82_E88del(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.A138V(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.H83R(1)|p.H83Q(1)	haematopoietic_and_lymphoid_tissue(284)|skin(175)|central_nervous_system(171)|lung(154)|urinary_tract(93)|bone(74)|oesophagus(59)|soft_tissue(58)|upper_aerodigestive_tract(56)|pleura(51)|ovary(36)|pancreas(34)|breast(33)|kidney(32)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(9)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(5)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678	GRCh37	CM053801|CM056557	CDKN2A	M	rs121913385	c.(247-249)CAC>TAC		cyclin-dependent kinase inhibitor 2A isoform 1							12.0	15.0	14.0					9																	21971111		2176	4259	6435	SO:0001583	missense	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971111G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.247C>T	9.37:g.21971111G>A	ENSP00000307101:p.His83Tyr	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.A138V	p.H83Y	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	459	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	83		H -> N (in a lung tumor).|H -> Y (in a pancreas and a head and neck tumor).	ANK 3.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.247C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.7|26.7	4.762523|4.762523	0.89932|0.89932	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	T;T|T;T	0.80393|0.71222	-1.37;-1.31|-0.55;-0.55	5.93|5.93	5.93|5.93	0.95920|0.95920	.|Ankyrin repeat-containing domain (4);	0.000000|.	0.37261|.	N|.	0.002164|.	T|T	0.77579|0.77579	0.4151|0.4151	L|L	0.27053|0.27053	0.805|0.805	0.46521|0.46521	D|D	0.999085|0.999085	P|D	0.47191|0.76494	0.891|0.999	B|D	0.44044|0.75484	0.439|0.986	T|T	0.79024|0.79024	-0.1972|-0.1972	10|9	0.62326|0.66056	D|D	0.03|0.02	-15.192|-15.192	19.1026|19.1026	0.93279|0.93279	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	138|83	Q8N726|P42771	CD2A2_HUMAN|CD2A1_HUMAN	V|Y	138;97|83	ENSP00000355153:A138V;ENSP00000432664:A97V|ENSP00000307101:H83Y;ENSP00000394932:H83Y	ENSP00000355153:A138V|ENSP00000307101:H83Y	A|H	-|-	2|1	0|0	CDKN2A|CDKN2A	21961111|21961111	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.915000|0.915000	0.54546|0.54546	8.665000|8.665000	0.91144|0.91144	2.803000|2.803000	0.96430|0.96430	0.650000|0.650000	0.86243|0.86243	GCA|CAC		0.741	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1		NM_000077		11	16	0	0	0	0.00245	0	11	16		
KIAA1045	23349	broad.mit.edu	37	9	34977116	34977116	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr9:34977116G>T	ENST00000242315.3	+	6	968	c.886G>T	c.(886-888)Gag>Tag	p.E296*	KIAA1045_ENST00000544237.1_Nonsense_Mutation_p.E296*|KIAA1045_ENST00000476115.2_3'UTR	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	296							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			GAAGGAGCGGGAGCGAGCCCG	0.572																																						uc003zvq.2		NaN																	0				skin(1)	1						c.(886-888)GAG>TAG		hypothetical protein LOC23349							41.0	46.0	44.0					9																	34977116		1891	4105	5996	SO:0001587	stop_gained	23349						calcium ion binding	g.chr9:34977116G>T	AB028968	CCDS43796.1	9p13.2	2008-02-05			ENSG00000122733	ENSG00000122733			29180	protein-coding gene	gene with protein product						10470851	Standard	NM_015297		Approved		uc003zvr.3	Q9UPV7	OTTHUMG00000019844	ENST00000242315.3:c.886G>T	9.37:g.34977116G>T	ENSP00000242315:p.Glu296*					KIAA1045_uc003zvr.2_Nonsense_Mutation_p.E296*	p.E296*	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00575)		6	1064	+			296					B7Z253|Q58FE9|Q5T662	Nonsense_Mutation	SNP	ENST00000242315.3	37	c.886G>T	CCDS43796.1	.	.	.	.	.	.	.	.	.	.	G	34	5.298754	0.95574	.	.	ENSG00000122733	ENST00000544237;ENST00000242315	.	.	.	4.91	4.91	0.64330	.	0.126644	0.52532	D	0.000074	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-14.6496	15.3958	0.74790	0.0:0.0:1.0:0.0	.	.	.	.	X	296	.	ENSP00000242315:E296X	E	+	1	0	KIAA1045	34967116	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	6.760000	0.74939	2.559000	0.86315	0.655000	0.94253	GAG		0.572	KIAA1045-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052256.2		XM_048592		27	76	1	0	1.88708e-17	0.008361	2.13765e-17	27	76		
WNK2	65268	broad.mit.edu	37	9	96079823	96079823	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr9:96079823G>A	ENST00000297954.4	+	29	6649	c.6649G>A	c.(6649-6651)Gtg>Atg	p.V2217M	WNK2_ENST00000356055.3_3'UTR|WNK2_ENST00000471076.1_3'UTR|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.V2180M|WNK2_ENST00000427277.2_Missense_Mutation_p.V1792M|WNK2_ENST00000349097.3_Missense_Mutation_p.V1829M	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	2217					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						TCGAGCAGGAGTGGGGATGCC	0.657																																						uc004ati.1		NaN																	0				lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12						c.(6649-6651)GTG>ATG		WNK lysine deficient protein kinase 2							80.0	73.0	75.0					9																	96079823		2203	4300	6503	SO:0001583	missense	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:96079823G>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.6649G>A	9.37:g.96079823G>A	ENSP00000297954:p.Val2217Met					WNK2_uc011lud.1_Missense_Mutation_p.V2180M|WNK2_uc004atj.2_Missense_Mutation_p.V2180M|WNK2_uc004atk.2_Missense_Mutation_p.V1705M	p.V2217M	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN			29	6649	+			2217					Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	ENST00000297954.4	37	c.6649G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.05|16.05	3.012322|3.012322	0.54468|0.54468	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000411624|ENST00000297954;ENST00000395477;ENST00000349097;ENST00000427277	.|T;T;T;T	.|0.70749	.|-0.51;-0.5;0.11;0.11	5.66|5.66	0.567|0.567	0.17325|0.17325	.|.	.|0.790938	.|0.10729	.|N	.|0.640855	T|T	0.58736|0.58736	0.2143|0.2143	L|L	0.29908|0.29908	0.895|0.895	0.58432|0.58432	D|D	0.999999|0.999999	.|P;B;B;P	.|0.48350	.|0.909;0.068;0.112;0.787	.|P;B;B;B	.|0.47705	.|0.555;0.022;0.013;0.322	T|T	0.52961|0.52961	-0.8505|-0.8505	5|10	.|0.41790	.|T	.|0.15	.|.	2.4255|2.4255	0.04458|0.04458	0.4522:0.1201:0.3046:0.1231|0.4522:0.1201:0.3046:0.1231	.|.	.|2180;1671;2180;2217	.|Q9Y3S1-2;A6PVR4;F8W9F9;Q9Y3S1	.|.;.;.;WNK2_HUMAN	N|M	1671|2217;2180;1829;1792	.|ENSP00000297954:V2217M;ENSP00000378860:V2180M;ENSP00000297876:V1829M;ENSP00000411181:V1792M	.|ENSP00000297954:V2217M	S|V	+|+	2|1	0|0	WNK2|WNK2	95119644|95119644	0.973000|0.973000	0.33851|0.33851	0.266000|0.266000	0.24541|0.24541	0.990000|0.990000	0.78478|0.78478	-0.082000|-0.082000	0.11304|0.11304	-0.168000|-0.168000	0.10853|0.10853	0.650000|0.650000	0.86243|0.86243	AGT|GTG		0.657	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1		NM_006648		33	32	0	0	0	0.00623	0	33	32		
MUSK	4593	broad.mit.edu	37	9	113444998	113444998	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr9:113444998G>C	ENST00000374448.4	+	2	258	c.124G>C	c.(124-126)Gaa>Caa	p.E42Q	MUSK_ENST00000374440.3_5'UTR|MUSK_ENST00000189978.5_Missense_Mutation_p.E42Q|MUSK_ENST00000416899.2_Missense_Mutation_p.E42Q	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	42	Ig-like 1.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TGCCTTAGTTGAAGAAGTGGC	0.393																																						uc004bey.2		NaN																	0				lung(3)|ovary(2)|central_nervous_system(1)	6						c.(124-126)GAA>CAA		skeletal muscle receptor tyrosine kinase							178.0	167.0	171.0					9																	113444998		1875	4111	5986	SO:0001583	missense	4593				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:113444998G>C	AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.124G>C	9.37:g.113444998G>C	ENSP00000363571:p.Glu42Gln					MUSK_uc004bex.2_Missense_Mutation_p.E42Q	p.E42Q	NM_005592	NP_005583	O15146	MUSK_HUMAN			2	222	+			42			Ig-like 1.|Extracellular (Potential).		Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	ENST00000374448.4	37	c.124G>C	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.861989	0.91433	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000416899	T	0.67698	-0.28	5.45	5.45	0.79879	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.056975	0.64402	D	0.000001	T	0.71937	0.3399	L	0.28014	0.82	0.80722	D	1	D;D	0.67145	0.996;0.995	D;P	0.68483	0.958;0.872	T	0.69764	-0.5057	10	0.31617	T	0.26	.	18.2704	0.90066	0.0:0.0:1.0:0.0	.	42;42	O15146;F5H6T2	MUSK_HUMAN;.	Q	42	ENSP00000363571:E42Q	ENSP00000189978:E42Q	E	+	1	0	MUSK	112484819	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.971000	0.93419	2.547000	0.85894	0.557000	0.71058	GAA		0.393	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding					18	200	0	0	0	0.006122	0	18	200		
LHX2	9355	broad.mit.edu	37	9	126794886	126794886	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr9:126794886C>T	ENST00000373615.4	+	5	1860	c.1121C>T	c.(1120-1122)aCc>aTc	p.T374I	RP11-85O21.5_ENST00000429482.1_RNA	NM_004789.3	NP_004780.3	P50458	LHX2_HUMAN	LIM homeobox 2	374					axon extension (GO:0048675)|axon guidance (GO:0007411)|cerebral cortex development (GO:0021987)|dorsal/ventral pattern formation (GO:0009953)|mesoderm development (GO:0007498)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural tube closure (GO:0001843)|olfactory bulb development (GO:0021772)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|retina development in camera-type eye (GO:0060041)|telencephalon regionalization (GO:0021978)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						ACTAGCCCCACCCTGCCAACT	0.617																																						uc004boe.1		NaN																	0					0						c.(1120-1122)ACC>ATC		LIM homeobox protein 2							85.0	82.0	83.0					9																	126794886		2203	4300	6503	SO:0001583	missense	9355					nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:126794886C>T	U11701	CCDS6853.1	9q33.3	2011-06-20			ENSG00000106689	ENSG00000106689		"""Homeoboxes / LIM class"""	6594	protein-coding gene	gene with protein product		603759				8649822, 10051612	Standard	NM_004789		Approved	LH-2, hLhx2	uc004boe.1	P50458	OTTHUMG00000020647	ENST00000373615.4:c.1121C>T	9.37:g.126794886C>T	ENSP00000362717:p.Thr374Ile					LHX2_uc010mwi.1_Missense_Mutation_p.T382I	p.T374I	NM_004789	NP_004780	P50458	LHX2_HUMAN			5	1860	+			374					O95860|Q52M57|Q8N1Z3	Missense_Mutation	SNP	ENST00000373615.4	37	c.1121C>T	CCDS6853.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.006523	0.74932	.	.	ENSG00000106689	ENST00000373615	D	0.84298	-1.83	5.54	5.54	0.83059	.	0.057968	0.64402	D	0.000002	D	0.86539	0.5957	N	0.24115	0.695	0.45427	D	0.998402	P;D	0.76494	0.807;0.999	B;D	0.66716	0.344;0.946	D	0.84109	0.0400	10	0.23302	T	0.38	.	18.459	0.90731	0.0:1.0:0.0:0.0	.	374;374	B3KNJ5;P50458	.;LHX2_HUMAN	I	374	ENSP00000362717:T374I	ENSP00000362717:T374I	T	+	2	0	LHX2	125834707	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.691000	0.68249	2.586000	0.87340	0.561000	0.74099	ACC		0.617	LHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054010.2				8	68	0	0	0	0.004482	0	8	68		
DNM1	1759	broad.mit.edu	37	9	131010868	131010868	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr9:131010868G>T	ENST00000372923.3	+	19	2004	c.1912G>T	c.(1912-1914)Gag>Tag	p.E638*	DNM1_ENST00000393594.3_Nonsense_Mutation_p.E638*|DNM1_ENST00000475805.1_Nonsense_Mutation_p.E638*|DNM1_ENST00000486160.1_Nonsense_Mutation_p.E638*|DNM1_ENST00000341179.7_Nonsense_Mutation_p.E638*	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	638					endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						GCAGGCCAGCGAGACCGAGGA	0.597																																					GBM(113;146 1575 2722 28670 29921)	uc011mau.1		NaN																	0				ovary(2)	2						c.(1912-1914)GAG>TAG		dynamin 1 isoform 1							84.0	71.0	76.0					9																	131010868		2203	4300	6503	SO:0001587	stop_gained	1759				receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity	g.chr9:131010868G>T	L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			ENSG00000106976	ENSG00000106976		"""Pleckstrin homology (PH) domain containing"""	2972	protein-coding gene	gene with protein product		602377		DNM		2144893, 9143509	Standard	XM_005251763		Approved		uc022bob.1	Q05193	OTTHUMG00000020733	ENST00000372923.3:c.1912G>T	9.37:g.131010868G>T	ENSP00000362014:p.Glu638*					DNM1_uc011mat.1_Nonsense_Mutation_p.E638*|DNM1_uc004bub.1_Nonsense_Mutation_p.E11*|DNM1_uc004buc.1_Nonsense_Mutation_p.E105*|DNM1_uc004bud.3_RNA	p.E638*	NM_004408	NP_004399	Q05193	DYN1_HUMAN			19	1999	+			638					A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Nonsense_Mutation	SNP	ENST00000372923.3	37	c.1912G>T	CCDS6895.1	.	.	.	.	.	.	.	.	.	.	G	37	6.288228	0.97444	.	.	ENSG00000106976	ENST00000475805;ENST00000341179;ENST00000372923;ENST00000393594;ENST00000486160;ENST00000543158	.	.	.	4.67	4.67	0.58626	.	0.211412	0.41605	D	0.000846	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-4.3209	17.7725	0.88497	0.0:0.0:1.0:0.0	.	.	.	.	X	638;638;638;638;638;183	.	ENSP00000345680:E638X	E	+	1	0	DNM1	130050689	1.000000	0.71417	0.972000	0.41901	0.505000	0.33919	5.485000	0.66850	2.439000	0.82584	0.650000	0.86243	GAG		0.597	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054367.1		NM_004408		15	109	1	0	2.61681e-11	0.00245	2.85756e-11	15	109		
MAMDC4	158056	broad.mit.edu	37	9	139750491	139750491	+	Missense_Mutation	SNP	G	G	A	rs200376345		TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr9:139750491G>A	ENST00000317446.2	+	14	1660	c.1610G>A	c.(1609-1611)cGg>cAg	p.R537Q	MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000445819.1_Missense_Mutation_p.R537Q	NM_206920.2	NP_996803.2			MAM domain containing 4											breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		TCTCTGCAGCGGGCCTGGGGG	0.632																																						uc004cjs.2		NaN																	0				breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1)	7						c.(1609-1611)CGG>CAG		apical early endosomal glycoprotein precursor							37.0	41.0	39.0					9																	139750491		2199	4296	6495	SO:0001583	missense	158056				protein transport	integral to membrane		g.chr9:139750491G>A	AL834531	CCDS7010.1	9q34.3	2013-10-21			ENSG00000177943	ENSG00000177943			24083	protein-coding gene	gene with protein product	"""apical early endosomal glycoprotein precursor"", ""endotubin"""					7829488	Standard	NM_206920		Approved	AEGP, DKFZp434M1411	uc004cjs.3	Q6UXC1	OTTHUMG00000020951	ENST00000317446.2:c.1610G>A	9.37:g.139750491G>A	ENSP00000319388:p.Arg537Gln					MAMDC4_uc011mej.1_5'UTR	p.R537Q	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)	14	1660	+	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						Missense_Mutation	SNP	ENST00000317446.2	37	c.1610G>A	CCDS7010.1	.	.	.	.	.	.	.	.	.	.	.	12.10	1.837817	0.32513	.	.	ENSG00000177943	ENST00000317446;ENST00000445819	T;T	0.02085	4.46;4.46	4.56	-5.78	0.02362	.	0.599063	0.15528	N	0.257628	T	0.01905	0.0060	L	0.53249	1.67	0.09310	N	1	B	0.24675	0.109	B	0.16722	0.016	T	0.45963	-0.9225	10	0.14252	T	0.57	-11.4568	7.7058	0.28648	0.5179:0.3245:0.1576:0.0	.	537	Q6UXC1-2	.	Q	537	ENSP00000319388:R537Q;ENSP00000411339:R537Q	ENSP00000319388:R537Q	R	+	2	0	MAMDC4	138870312	0.000000	0.05858	0.181000	0.23098	0.842000	0.47809	-0.959000	0.03853	-1.231000	0.02557	-0.258000	0.10820	CGG		0.632	MAMDC4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254642.3		NM_206920		18	110	0	0	0	0.008871	0	18	110		
PTCHD1	139411	broad.mit.edu	37	X	23411319	23411319	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chrX:23411319G>T	ENST00000379361.4	+	3	2544	c.1684G>T	c.(1684-1686)Gag>Tag	p.E562*		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	562					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TTACATATATGAGTCTATAGA	0.403																																						uc004dal.3		NaN																	0				ovary(4)|kidney(1)|skin(1)	6						c.(1684-1686)GAG>TAG		patched domain containing 1							93.0	88.0	90.0					X																	23411319		2203	4300	6503	SO:0001587	stop_gained	139411				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity	g.chrX:23411319G>T	AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.1684G>T	X.37:g.23411319G>T	ENSP00000368666:p.Glu562*						p.E562*	NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN			3	1692	+			562					B4DQH0|Q0IJ60|Q6P6B8	Nonsense_Mutation	SNP	ENST00000379361.4	37	c.1684G>T	CCDS35215.2	.	.	.	.	.	.	.	.	.	.	G	44	11.082772	0.99513	.	.	ENSG00000165186	ENST00000379361	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	18.7851	0.91951	0.0:0.0:1.0:0.0	.	.	.	.	X	562	.	ENSP00000368666:E562X	E	+	1	0	PTCHD1	23321240	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.381000	0.81170	0.600000	0.82982	GAG		0.403	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2		NM_173495		9	152	1	0	0.000274275	0.004482	0.000282555	9	152		
ATRX	546	broad.mit.edu	37	X	76939791	76939791	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chrX:76939791C>G	ENST00000373344.5	-	9	1171	c.957G>C	c.(955-957)aaG>aaC	p.K319N	ATRX_ENST00000395603.3_Missense_Mutation_p.K281N|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	319					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTGAACTAGTCTTCTTTGGAG	0.333			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.3		NaN		Rec	yes		X	Xq21.1	546	Mis|F|N	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			Pancreatic neuroendocrine tumors		1	Unknown(1)		bone(1)	haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30						c.(955-957)AAG>AAC		transcriptional regulator ATRX isoform 1	Phosphatidylserine(DB00144)						83.0	77.0	79.0					X																	76939791		2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76939791C>G	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.957G>C	X.37:g.76939791C>G	ENSP00000362441:p.Lys319Asn					ATRX_uc004ecq.3_Missense_Mutation_p.K281N|ATRX_uc004eco.3_Missense_Mutation_p.K104N|ATRX_uc004ecr.2_Missense_Mutation_p.K280N|ATRX_uc010nlx.1_Missense_Mutation_p.K319N|ATRX_uc010nly.1_Missense_Mutation_p.K264N	p.K319N	NM_000489	NP_000480	P46100	ATRX_HUMAN			9	1189	-			319					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.957G>C	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	c	8.935	0.964373	0.18583	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.92965	-3.12;-3.14	5.34	1.88	0.25563	.	0.123452	0.53938	D	0.000041	D	0.93449	0.7910	L	0.57536	1.79	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.83275	0.991;0.973;0.996;0.994	D	0.89927	0.4063	10	0.38643	T	0.18	-13.3866	8.2248	0.31562	0.0:0.2073:0.0:0.7927	.	319;280;281;319	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	N	319;281;275	ENSP00000362441:K319N;ENSP00000378967:K281N	ENSP00000362441:K319N	K	-	3	2	ATRX	76826447	1.000000	0.71417	0.991000	0.47740	0.945000	0.59286	1.057000	0.30492	-0.013000	0.14199	0.502000	0.49764	AAG		0.333	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2		NM_000489		11	80	0	0	0	0.008291	0	11	80		
ZFY	7544	broad.mit.edu	37	Y	2847298	2847298	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chrY:2847298C>T	ENST00000155093.3	+	8	1991	c.1670C>T	c.(1669-1671)tCg>tTg	p.S557L	ZFY_ENST00000449237.1_Missense_Mutation_p.S480L|ZFY-AS1_ENST00000417305.1_RNA|ZFY_ENST00000478783.1_3'UTR|ZFY_ENST00000431102.1_Missense_Mutation_p.S366L|ZFY_ENST00000383052.1_Missense_Mutation_p.S557L	NM_003411.3	NP_003402.2	P08048	ZFY_HUMAN	zinc finger protein, Y-linked	557					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			biliary_tract(1)|kidney(3)|large_intestine(1)|lung(3)	8						CGACACCCGTCGGAACTGAGA	0.473																																						uc004fqj.2		NaN																	0					0						c.(1669-1671)TCG>TTG		zinc finger protein, Y-linked isoform 1																																				SO:0001583	missense	7544				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrY:2847298C>T	L10393	CCDS14774.1, CCDS48200.1, CCDS48201.1	Yp11.3	2013-01-08			ENSG00000067646	ENSG00000067646		"""Zinc fingers, C2H2-type"""	12870	protein-coding gene	gene with protein product		490000				2497060	Standard	NM_001145275		Approved	ZNF911	uc004fqj.3	P08048	OTTHUMG00000036159	ENST00000155093.3:c.1670C>T	Y.37:g.2847298C>T	ENSP00000155093:p.Ser557Leu					ZFY_uc011nan.1_Missense_Mutation_p.S366L|ZFY_uc010nwe.2_Missense_Mutation_p.S480L	p.S557L	NM_003411	NP_003402	P08048	ZFY_HUMAN			8	1991	+			557			C2H2-type 5.		B4DVF7|Q14021|Q15558|Q1RME9|Q24JR0|Q96TF3	Missense_Mutation	SNP	ENST00000155093.3	37	c.1670C>T	CCDS14774.1																																																																																				0.473	ZFY-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088063.1		NM_003411		6	26	0	0	0	0.001984	0	6	26		
TRPC6	7225	broad.mit.edu	37	11	101341944	101341944	+	Frame_Shift_Del	DEL	T	T	-	rs144927067		TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr11:101341944delT	ENST00000344327.3	-	9	2803	c.2379delA	c.(2377-2379)aaafs	p.K793fs	TRPC6_ENST00000348423.4_Frame_Shift_Del_p.K677fs|TRPC6_ENST00000532133.1_Frame_Shift_Del_p.K715fs|TRPC6_ENST00000360497.4_Frame_Shift_Del_p.K738fs	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	793					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CCTGGAAACCTTTTTTATGGC	0.393																																					Colon(166;1315 1927 11094 12848 34731)	uc001pgk.3		NaN																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(2377-2379)AAAfs		transient receptor potential cation channel,							135.0	142.0	140.0					11																	101341944		2203	4298	6501	SO:0001589	frameshift_variant	7225				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	g.chr11:101341944delT	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.2379delA	11.37:g.101341944delT	ENSP00000340913:p.Lys793fs					TRPC6_uc009ywy.2_Frame_Shift_Del_p.K677fs|TRPC6_uc009ywz.1_Frame_Shift_Del_p.K738fs	p.K793fs	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	9	2804	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	793			Cytoplasmic (Potential).		Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Frame_Shift_Del	DEL	ENST00000344327.3	37	c.2379delA	CCDS8311.1																																																																																				0.393	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1		NM_004621		7	2377	NaN	NaN	NaN	NaN	NaN	7	2377	---	---
MMP13	4322	broad.mit.edu	37	11	102825997	102825997	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr11:102825997delT	ENST00000260302.3	-	2	374	c.346delA	c.(346-348)atgfs	p.M116fs	MMP13_ENST00000340273.4_Frame_Shift_Del_p.M116fs	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	116					bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	GTTAAATTCATTTTGGACCAT	0.343																																						uc001phl.2		NaN																	0				ovary(2)|skin(1)	3						c.(346-348)ATGfs		matrix metalloproteinase 13 preproprotein							65.0	66.0	66.0					11																	102825997		2202	4299	6501	SO:0001589	frameshift_variant	4322				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	g.chr11:102825997delT	X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"""Endogenous ligands"""	7159	protein-coding gene	gene with protein product	"""collagenase 3"""	600108	"""matrix metalloproteinase 13 (collagenase 3)"""			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.346delA	11.37:g.102825997delT	ENSP00000260302:p.Met116fs						p.M116fs	NM_002427	NP_002418	P45452	MMP13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0144)	2	374	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	116					A8K846|B2RCZ3|Q6NWN6	Frame_Shift_Del	DEL	ENST00000260302.3	37	c.346delA	CCDS8324.1																																																																																				0.343	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1		NM_002427		9	901	NaN	NaN	NaN	NaN	NaN	9	901	---	---
ATM	472	broad.mit.edu	37	11	108142128	108142129	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08			-	T	-	-		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr11:108142128_108142129insT	ENST00000452508.2	+	21	3261_3262	c.3072_3073insT	c.(3073-3075)tttfs	p.F1025fs	ATM_ENST00000278616.4_Frame_Shift_Ins_p.F1025fs			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1025					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TAATTGGAGCATTTTGGTAGGT	0.381			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												uc001pkb.1		NaN	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	D|Mis|N|F|S	ataxia telangiectasia mutated			"""L, O"""		leukemia|lymphoma|medulloblastoma|glioma	T-PLL		0				haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240						c.(3070-3075)GCATTTfs	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	ataxia telangiectasia mutated isoform 1																																				SO:0001589	frameshift_variant	472	Ataxia_Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108142128_108142129insT	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.3076dupT	11.37:g.108142132_108142132dupT	ENSP00000388058:p.Phe1025fs	TSP Lung(14;0.12)				ATM_uc009yxr.1_Frame_Shift_Ins_p.A1024fs|ATM_uc009yxs.1_RNA	p.A1024fs	NM_000051	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	20	3457_3458	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1024_1025					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Frame_Shift_Ins	INS	ENST00000452508.2	37	c.3072_3073insT	CCDS31669.1																																																																																				0.381	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1		NM_000051		35	250	NaN	NaN	NaN	NaN	NaN	35	250	---	---
KMT2D	8085	broad.mit.edu	37	12	49433094	49433094	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08			G	-	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr12:49433094delG	ENST00000301067.7	-	33	8276	c.8277delC	c.(8275-8277)cccfs	p.P2759fs	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2759					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GCCCCAGGATGGGGCCACTCA	0.602																																						uc001rta.3		NaN								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(8275-8277)CCCfs		myeloid/lymphoid or mixed-lineage leukemia 2							32.0	38.0	36.0					12																	49433094		1861	4096	5957	SO:0001589	frameshift_variant	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49433094delG	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.8277delC	12.37:g.49433094delG	ENSP00000301067:p.Pro2759fs	HNSCC(34;0.089)					p.P2759fs	NM_003482	NP_003473	O14686	MLL2_HUMAN			33	8277	-			2759					O14687	Frame_Shift_Del	DEL	ENST00000301067.7	37	c.8277delC	CCDS44873.1																																																																																				0.602	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2				39	55	NaN	NaN	NaN	NaN	NaN	39	55	---	---
OR4N2	390429	broad.mit.edu	37	14	20296055	20296056	+	Frame_Shift_Ins	INS	-	-	T	rs149523724		TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr14:20296055_20296056insT	ENST00000315947.1	+	1	448_449	c.448_449insT	c.(448-450)cttfs	p.L150fs	OR4N2_ENST00000568211.1_Frame_Shift_Ins_p.L150fs	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGCTCTGTGGCTTGGGGGTTTT	0.53																																						uc010tkv.1		NaN																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(448-450)CTTfs		olfactory receptor, family 4, subfamily N,																																				SO:0001589	frameshift_variant	390429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20296055_20296056insT		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.450dupT	14.37:g.20296057_20296057dupT	ENSP00000319601:p.Leu150fs						p.L150fs	NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	448_449	+	all_cancers(95;0.00108)		150			Helical; Name=4; (Potential).		Q6IEY9|Q6IFA2	Frame_Shift_Ins	INS	ENST00000315947.1	37	c.448_449insT	CCDS32022.1																																																																																				0.530	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2				26	242	NaN	NaN	NaN	NaN	NaN	26	242	---	---
NFAT5	10725	broad.mit.edu	37	16	69681191	69681191	+	Frame_Shift_Del	DEL	A	A	-	rs375170983		TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr16:69681191delA	ENST00000354436.2	+	3	778	c.460delA	c.(460-462)aacfs	p.N154fs	NFAT5_ENST00000349945.1_Frame_Shift_Del_p.N78fs|NFAT5_ENST00000432919.1_Frame_Shift_Del_p.N172fs|NFAT5_ENST00000393742.2_Frame_Shift_Del_p.N78fs|NFAT5_ENST00000566899.1_Frame_Shift_Del_p.N78fs|NFAT5_ENST00000567239.1_Frame_Shift_Del_p.N172fs	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	154					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CTTGCTGGATAACAGTCGGAT	0.502																																						uc002exm.1		NaN																	0					0						c.(460-462)AACfs		nuclear factor of activated T-cells 5 isoform c							138.0	119.0	125.0					16																	69681191		2198	4300	6498	SO:0001589	frameshift_variant	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69681191delA	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.460delA	16.37:g.69681191delA	ENSP00000346420:p.Asn154fs					NFAT5_uc002exh.1_Intron|NFAT5_uc002exi.2_Frame_Shift_Del_p.N78fs|NFAT5_uc002exj.1_Frame_Shift_Del_p.N78fs|NFAT5_uc002exk.1_Frame_Shift_Del_p.N78fs|NFAT5_uc002exl.1_Frame_Shift_Del_p.N172fs|NFAT5_uc002exn.1_Frame_Shift_Del_p.N172fs	p.N154fs	NM_006599	NP_006590	O94916	NFAT5_HUMAN			3	1668	+			154					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Frame_Shift_Del	DEL	ENST00000354436.2	37	c.460delA	CCDS10881.1																																																																																				0.502	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2		NM_138714		14	115	NaN	NaN	NaN	NaN	NaN	14	115	---	---
GAS2L2	246176	broad.mit.edu	37	17	34073205	34073206	+	Frame_Shift_Ins	INS	-	-	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:34073205_34073206insG	ENST00000254466.6	-	6	1337_1338	c.1310_1311insC	c.(1309-1311)ccafs	p.P437fs	GAS2L2_ENST00000587565.1_Frame_Shift_Ins_p.P421fs	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	437					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGAGTCTTTGTGGGGTGGGGTT	0.599																																						uc002hjv.1		NaN																	0				ovary(1)|skin(1)	2						c.(1309-1311)CCAfs		growth arrest-specific 2 like 2																																				SO:0001589	frameshift_variant	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34073205_34073206insG	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.1311dupC	17.37:g.34073209_34073209dupG	ENSP00000254466:p.Pro437fs						p.P437fs	NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	1338_1339	-		Ovarian(249;0.17)	437					Q8NHY4	Frame_Shift_Ins	INS	ENST00000254466.6	37	c.1310_1311insC	CCDS11298.1																																																																																				0.599	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1		NM_139285		8	298	NaN	NaN	NaN	NaN	NaN	8	298	---	---
CDC27	996	broad.mit.edu	37	17	45247389	45247389	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:45247389delT	ENST00000066544.3	-	4	364	c.271delA	c.(271-273)atcfs	p.I91fs	CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000527547.1_Frame_Shift_Del_p.I91fs|RP5-867C24.5_ENST00000572193.1_RNA|CDC27_ENST00000446365.2_Frame_Shift_Del_p.I30fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.I91fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	91					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)	p.I91fs*54(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CCAGATAAGATTTGTTCCCCT	0.323																																						uc002ild.3		NaN																	1	Deletion - Frameshift(1)		ovary(1)	lung(2)|breast(2)|ovary(1)	5						c.(271-273)ATCfs		cell division cycle protein 27 isoform 2							84.0	94.0	91.0					17																	45247389		2203	4299	6502	SO:0001589	frameshift_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45247389delT	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.271delA	17.37:g.45247389delT	ENSP00000066544:p.Ile91fs					CDC27_uc002ile.3_Frame_Shift_Del_p.I91fs|CDC27_uc002ilf.3_Frame_Shift_Del_p.I91fs|CDC27_uc010wkp.1_Frame_Shift_Del_p.I30fs|CDC27_uc010wkq.1_RNA	p.I91fs	NM_001256	NP_001247	P30260	CDC27_HUMAN			4	398	-			91			TPR 1.		G3V1C4|Q16349|Q96F35	Frame_Shift_Del	DEL	ENST00000066544.3	37	c.271delA	CCDS11509.1																																																																																				0.323	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2				8	232	NaN	NaN	NaN	NaN	NaN	8	232	---	---
ZNF563	147837	broad.mit.edu	37	19	12430217	12430217	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:12430217delA	ENST00000293725.5	-	4	827	c.622delT	c.(622-624)tggfs	p.W208fs	ZNF563_ENST00000595977.1_Intron	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	208					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AAACTGGGCCAAAAAAAAGCT	0.393																																					GBM(39;623 795 5132 29510 31476)	uc002mtp.2		NaN																	0					0						c.(622-624)TGGfs		zinc finger protein 563							124.0	126.0	126.0					19																	12430217		2203	4300	6503	SO:0001589	frameshift_variant	147837				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12430217delA	BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"""Zinc fingers, C2H2-type"", ""-"""	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.622delT	19.37:g.12430217delA	ENSP00000293725:p.Trp208fs					ZNF563_uc002mtq.2_Intron	p.W208fs	NM_145276	NP_660319	Q8TA94	ZN563_HUMAN			4	860	-			208			C2H2-type 3.		B2R9E7|Q8NAT7	Frame_Shift_Del	DEL	ENST00000293725.5	37	c.622delT	CCDS12270.1																																																																																				0.393	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344114.1		NM_145276		8	221	NaN	NaN	NaN	NaN	NaN	8	221	---	---
GCC2	9648	broad.mit.edu	37	2	109087883	109087884	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:109087883_109087884insA	ENST00000309863.6	+	6	2812_2813	c.2098_2099insA	c.(2098-2100)gaafs	p.E700fs		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	700					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ACTCAGTTCAGAAAAAAAACAG	0.307																																						uc002tec.2		NaN																	0				ovary(1)	1						c.(2098-2100)GAAfs		GRIP and coiled-coil domain-containing 2																																				SO:0001589	frameshift_variant	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109087883_109087884insA	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.2106dupA	2.37:g.109087891_109087891dupA	ENSP00000307939:p.Glu700fs					GCC2_uc002ted.2_Frame_Shift_Ins_p.E599fs	p.E700fs	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN			6	2252_2253	+			700			Potential.		A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Frame_Shift_Ins	INS	ENST00000309863.6	37	c.2098_2099insA	CCDS33268.1																																																																																				0.307	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3		NM_014635		7	545	NaN	NaN	NaN	NaN	NaN	7	545	---	---
CABLES2	81928	broad.mit.edu	37	20	60966489	60966494	+	In_Frame_Del	DEL	CTCCGC	CTCCGC	-	rs200810639		TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr20:60966489_60966494delCTCCGC	ENST00000279101.5	-	9	1115_1120	c.1107_1112delGCGGAG	c.(1105-1113)atgcggagc>atc	p.369_371MRS>I		NM_031215.2	NP_112492.2	Q9BTV7	CABL2_HUMAN	Cdk5 and Abl enzyme substrate 2	369					cell cycle (GO:0007049)|cell division (GO:0051301)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)		cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1)	11	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CTCCGACAGGCTCCGCATCTCCCGCT	0.636																																						uc002ycv.2		NaN																	0				pancreas(1)	1						c.(1105-1113)ATGCGGAGC>ATC		Cdk5 and Abl enzyme substrate 2																																				SO:0001651	inframe_deletion	81928				cell cycle|cell division|regulation of cell cycle|regulation of cell division		cyclin-dependent protein kinase regulator activity	g.chr20:60966489_60966494delCTCCGC	BC003122	CCDS33503.1	20q13.33	2004-01-09	2004-01-09	2004-01-09	ENSG00000149679	ENSG00000149679			16143	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 150"""	C20orf150		12477932	Standard	NM_031215		Approved	dJ908M14.2, ik3-2	uc002ycv.2	Q9BTV7	OTTHUMG00000032912	ENST00000279101.5:c.1107_1112delGCGGAG	20.37:g.60966489_60966494delCTCCGC	ENSP00000279101:p.Met369_Ser371delinsIle						p.369_371MRS>I	NM_031215	NP_112492	Q9BTV7	CABL2_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		9	1114_1119	-	Breast(26;2.05e-08)		369_371					Q5JWL0|Q9BYK0	In_Frame_Del	DEL	ENST00000279101.5	37	c.1107_1112delGCGGAG	CCDS33503.1																																																																																				0.636	CABLES2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080027.2		XM_037265		86	231	NaN	NaN	NaN	NaN	NaN	86	231	---	---
CDKN1A	1026	broad.mit.edu	37	6	36651924	36651925	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08			AA	-	AA	AA		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:36651924_36651925delAA	ENST00000405375.1	+	2	281_282	c.46_47delAA	c.(46-48)aagfs	p.K16fs	CDKN1A_ENST00000448526.2_Frame_Shift_Del_p.K50fs|CDKN1A_ENST00000244741.5_Frame_Shift_Del_p.K16fs|CDKN1A_ENST00000373711.2_Frame_Shift_Del_p.K16fs|CDKN1A_ENST00000478800.1_3'UTR	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	16					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to ionizing radiation (GO:0071479)|cellular senescence (GO:0090398)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of gene expression (GO:0010629)|negative regulation of phosphorylation (GO:0042326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ regeneration (GO:0031100)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of DNA biosynthetic process (GO:2000278)|regulation of protein import into nucleus, translocation (GO:0033158)|response to arsenic-containing substance (GO:0046685)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to organonitrogen compound (GO:0010243)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|stress-induced premature senescence (GO:0090400)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA-p21 complex (GO:0070557)	cyclin-dependent protein kinase activating kinase activity (GO:0019912)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)	p.S15fs*15(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						ATGCGGCAGCAAGGCCTGCCGC	0.649																																						uc003omm.3		NaN																	1	Deletion - Frameshift(1)		urinary_tract(1)	ovary(1)|breast(1)	2						c.(46-48)AAGfs		cyclin-dependent kinase inhibitor 1A																																				SO:0001589	frameshift_variant	1026	Multiple_Endocrine_Neoplasia_type_1			cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding	g.chr6:36651924_36651925delAA	U03106	CCDS4824.1	6p21.1	2009-01-21			ENSG00000124762	ENSG00000124762			1784	protein-coding gene	gene with protein product		116899		CDKN1			Standard	NM_000389		Approved	P21, CIP1, WAF1, SDI1, CAP20, p21CIP1, p21Cip1/Waf1	uc021yzb.1	P38936	OTTHUMG00000014603	ENST00000405375.1:c.46_47delAA	6.37:g.36651924_36651925delAA	ENSP00000384849:p.Lys16fs					CDKN1A_uc011dtq.1_Frame_Shift_Del_p.K50fs|CDKN1A_uc003oml.2_Frame_Shift_Del_p.K16fs|CDKN1A_uc003omn.2_Frame_Shift_Del_p.K16fs	p.K16fs	NM_000389	NP_000380	P38936	CDN1A_HUMAN			2	168_169	+			16			C4-type (Potential).		Q14010|Q6FI05|Q9BUT4	Frame_Shift_Del	DEL	ENST00000405375.1	37	c.46_47delAA	CCDS4824.1																																																																																				0.649	CDKN1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040354.1		NM_078467		47	24	NaN	NaN	NaN	NaN	NaN	47	24	---	---
BEND6	221336	broad.mit.edu	37	6	56882036	56882037	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:56882036_56882037insT	ENST00000370746.3	+	5	820_821	c.551_552insT	c.(550-555)tgtaacfs	p.N185fs	BEND6_ENST00000484701.1_3'UTR|BEND6_ENST00000370750.2_3'UTR|BEND6_ENST00000545789.1_Frame_Shift_Ins_p.N87fs	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	185	BEN. {ECO:0000255|PROSITE- ProRule:PRU00784}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						ATTGCCCGTTGTAACAAGAGCA	0.361																																						uc010kab.2		NaN																	0					0						c.(550-552)TGTfs		BEN domain containing 6																																				SO:0001589	frameshift_variant	221336							g.chr6:56882036_56882037insT	AK054724	CCDS43476.1	6p12.1	2012-11-22	2008-10-03	2008-10-03	ENSG00000151917	ENSG00000151917		"""BEN domain containing"""	20871	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 65"""	C6orf65			Standard	NM_152731		Approved	FLJ30162, bA203B9.1	uc010kab.3	Q5SZJ8	OTTHUMG00000014914	ENST00000370746.3:c.552dupT	6.37:g.56882037_56882037dupT	ENSP00000359782:p.Asn185fs					BEND6_uc003pdi.3_Frame_Shift_Ins_p.C86fs	p.C184fs	NM_152731	NP_689944	Q5SZJ8	BEND6_HUMAN			5	1137_1138	+			184			BEN.		Q4G0W8|Q8N662|Q96NS6	Frame_Shift_Ins	INS	ENST00000370746.3	37	c.551_552insT	CCDS43476.1																																																																																				0.361	BEND6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041032.4		NM_152731		20	30	NaN	NaN	NaN	NaN	NaN	20	30	---	---
C6orf165	154313	broad.mit.edu	37	6	88144700	88144700	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:88144700delA	ENST00000507897.1	+	11	1506	c.1423delA	c.(1423-1425)aaafs	p.K476fs	C6ORF165_ENST00000369562.4_Frame_Shift_Del_p.K476fs			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	476										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AGAAAAGGCCAAAAAAAATAC	0.269																																						uc003plv.2		NaN																	0				central_nervous_system(1)	1						c.(1423-1425)AAAfs		hypothetical protein LOC154313 isoform 1				30,4226		8,14,2106	58.0	61.0	60.0			0.1	1.0	6		61	63,8181		22,19,4081	no	frameshift	C6orf165	NM_001031743.2		30,33,6187	A1A1,A1R,RR		0.7642,0.7049,0.744			88144700	93,12407	2202	4295	6497	SO:0001589	frameshift_variant	154313							g.chr6:88144700delA	BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.1423delA	6.37:g.88144700delA	ENSP00000426769:p.Lys476fs					SLC35A1_uc003plx.2_5'Flank|C6orf165_uc003plw.2_Frame_Shift_Del_p.K287fs|C6orf165_uc010kbv.1_RNA|C6orf165_uc003plu.1_Frame_Shift_Del_p.K475fs	p.K475fs	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0419)	11	1515	+		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	475					A8K969|E1P507|Q8N9U4	Frame_Shift_Del	DEL	ENST00000507897.1	37	c.1423delA	CCDS34498.1																																																																																				0.269	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1		NM_178823		7	86	NaN	NaN	NaN	NaN	NaN	7	86	---	---
PHACTR2	9749	broad.mit.edu	37	6	144081695	144081696	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:144081695_144081696insA	ENST00000427704.2	+	5	709_710	c.579_580insA	c.(580-582)aaafs	p.K194fs	PHACTR2_ENST00000367582.3_Intron|PHACTR2_ENST00000440869.2_Frame_Shift_Ins_p.K205fs|PHACTR2_ENST00000305766.6_Intron|PHACTR2_ENST00000367584.4_Intron	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	194							protein phosphatase inhibitor activity (GO:0004864)			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		TGCCTCCCATTAAAAAAAATAC	0.569																																					Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)	uc003qjq.3		NaN																	0				ovary(2)	2						c.(577-582)ATTAAAfs		phosphatase and actin regulator 2 isoform 3																																				SO:0001589	frameshift_variant	9749						actin binding|protein phosphatase inhibitor activity	g.chr6:144081695_144081696insA	AB014580	CCDS43512.1, CCDS47492.1, CCDS47493.1, CCDS47494.1	6q24.1	2013-01-24	2004-05-20	2004-05-20	ENSG00000112419	ENSG00000112419		"""Phosphatase and actin regulators"""	20956	protein-coding gene	gene with protein product		608724	"""chromosome 6 open reading frame 56"""	C6orf56		9734811, 15107502	Standard	NM_001100164		Approved	KIAA0680	uc010khi.3	O75167	OTTHUMG00000015732	ENST00000427704.2:c.587dupA	6.37:g.144081703_144081703dupA	ENSP00000391763:p.Lys194fs					PHACTR2_uc010khh.2_Intron|PHACTR2_uc010khi.2_Frame_Shift_Ins_p.I204fs|PHACTR2_uc003qjr.3_Intron	p.I193fs	NM_014721	NP_055536	O75167	PHAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)	5	709_710	+			193_194					A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	Frame_Shift_Ins	INS	ENST00000427704.2	37	c.579_580insA	CCDS47492.1																																																																																				0.569	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042528.2		NM_014721		8	252	NaN	NaN	NaN	NaN	NaN	8	252	---	---
SMURF1	57154	broad.mit.edu	37	7	98638102	98638103	+	Frame_Shift_Ins	INS	-	-	C	rs372398620		TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr7:98638102_98638103insC	ENST00000361125.1	-	14	1845_1846	c.1526_1527insG	c.(1525-1527)ggcfs	p.G509fs	SMURF1_ENST00000361368.2_Frame_Shift_Ins_p.G483fs|AC004893.11_ENST00000468960.2_RNA	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	509	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of ossification (GO:0030279)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein export from nucleus (GO:0006611)|protein localization to cell surface (GO:0034394)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activin binding (GO:0048185)|I-SMAD binding (GO:0070411)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			GCACTGTGAAGCCCCCGTTGAT	0.559											OREG0018189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003upu.1		NaN																	0				skin(2)|ovary(1)|lung(1)	4						c.(1525-1527)GGCfs		Smad ubiquitination regulatory factor 1 isoform																																				SO:0001589	frameshift_variant	57154				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity	g.chr7:98638102_98638103insC	AB046845	CCDS34689.1, CCDS34690.1	7q21.1-q31.1	2004-07-29			ENSG00000198742	ENSG00000198742			16807	protein-coding gene	gene with protein product		605568				10458166	Standard	NM_020429		Approved	KIAA1625	uc003upu.2	Q9HCE7	OTTHUMG00000150272	ENST00000361125.1:c.1527dupG	7.37:g.98638107_98638107dupC	ENSP00000354621:p.Gly509fs		OREG0018189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1337	SMURF1_uc003upv.1_Frame_Shift_Ins_p.G483fs|SMURF1_uc003upt.2_Frame_Shift_Ins_p.G483fs	p.G509fs	NM_020429	NP_065162	Q9HCE7	SMUF1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)		14	1846_1847	-	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		509			HECT.		A4D279|B7ZMB6|B9EGV3|O75853|Q547Q3|Q9UJT8	Frame_Shift_Ins	INS	ENST00000361125.1	37	c.1526_1527insG	CCDS34690.1																																																																																				0.559	SMURF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000335001.2		NM_020429		12	177	NaN	NaN	NaN	NaN	NaN	12	177	---	---
RHOXF2	84528	broad.mit.edu	37	X	119293071	119293071	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chrX:119293071delA	ENST00000371388.3	+	2	420	c.230delA	c.(229-231)gaafs	p.E77fs		NM_032498.1	NP_115887.1	Q9BQY4	RHXF2_HUMAN	Rhox homeobox family, member 2	77					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(2)	8						GGCGGAGAAGAAAAAGATGGC	0.607																																						uc004esl.3		NaN																	0					0						c.(229-231)GAAfs		Rhox homeobox family, member 2B							19.0	24.0	23.0					X																	119293071		2092	4142	6234	SO:0001589	frameshift_variant	727940					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:119293071delA		CCDS14594.1	Xq24	2012-12-20			ENSG00000131721	ENSG00000131721		"""Homeoboxes / PRD class"""	30011	protein-coding gene	gene with protein product	"""cancer/testis antigen 107"""	300447				12490318	Standard	NM_032498		Approved	THG1, PEPP-2, PEPP2, CT107		Q9BQY4	OTTHUMG00000022296	ENST00000371388.3:c.230delA	X.37:g.119293071delA	ENSP00000360441:p.Glu77fs						p.E77fs	NM_001099685	NP_001093155	P0C7M4	RHF2B_HUMAN			2	420	+			77					Q9BR00	Frame_Shift_Del	DEL	ENST00000371388.3	37	c.230delA	CCDS14594.1																																																																																				0.607	RHOXF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411977.1		NM_032498		18	48	NaN	NaN	NaN	NaN	NaN	18	48	---	---
