#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
PQLC2	54896	broad.mit.edu	37	1	19653755	19653755	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr1:19653755C>G	ENST00000375153.3	+	7	1293	c.653C>G	c.(652-654)tCt>tGt	p.S218C	PQLC2_ENST00000400548.2_Missense_Mutation_p.S153C|PQLC2_ENST00000375155.3_Missense_Mutation_p.S218C	NM_001040125.1	NP_001035214.1	Q6ZP29	LAAT1_HUMAN	PQ loop repeat containing 2	218	PQ-loop 2.				amino acid homeostasis (GO:0080144)|arginine transport (GO:0015809)|lysine transport (GO:0015819)	integral component of organelle membrane (GO:0031301)|lysosomal membrane (GO:0005765)	arginine transmembrane transporter activity (GO:0015181)|basic amino acid transmembrane transporter activity (GO:0015174)|L-lysine transmembrane transporter activity (GO:0015189)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ATCTCCTACTCTCTGTTCGCG	0.602																																						uc001bby.2		NaN																	0					0						c.(652-654)TCT>TGT		PQ loop repeat containing 2 isoform 1							75.0	72.0	73.0					1																	19653755		2203	4300	6503	SO:0001583	missense	54896					integral to membrane		g.chr1:19653755C>G	BC015324	CCDS195.2, CCDS30618.1	1p36.13	2013-10-11			ENSG00000040487	ENSG00000040487			26001	protein-coding gene	gene with protein product		614760				23169667	Standard	XM_005245915		Approved	FLJ20320	uc001bby.3	Q6ZP29	OTTHUMG00000002521	ENST00000375153.3:c.653C>G	1.37:g.19653755C>G	ENSP00000364295:p.Ser218Cys					PQLC2_uc001bbz.2_Missense_Mutation_p.S153C|PQLC2_uc001bca.2_Missense_Mutation_p.S218C|PQLC2_uc001bcb.2_Missense_Mutation_p.S107C|PQLC2_uc001bcc.2_Missense_Mutation_p.S107C	p.S218C	NM_017765	NP_060235	Q6ZP29	PQLC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	8	1005	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	218			PQ-loop 2.|Helical; (Potential).		B3KWQ5|Q6ZMJ3|Q6ZP27|Q9NXC7	Missense_Mutation	SNP	ENST00000375153.3	37	c.653C>G	CCDS195.2	.	.	.	.	.	.	.	.	.	.	C	13.56	2.272788	0.40194	.	.	ENSG00000040487	ENST00000375155;ENST00000375153;ENST00000400548	D;D;D	0.98313	-4.86;-4.86;-4.86	5.16	4.25	0.50352	.	0.325326	0.33792	N	0.004559	D	0.97986	0.9337	L	0.57536	1.79	0.34817	D	0.73826	D	0.55800	0.973	P	0.61275	0.886	D	0.99938	1.1383	10	0.52906	T	0.07	-16.6387	9.6804	0.40067	0.0:0.8292:0.0:0.1708	.	218	Q6ZP29	PQLC2_HUMAN	C	218;218;153	ENSP00000364297:S218C;ENSP00000364295:S218C;ENSP00000383395:S153C	ENSP00000364295:S218C	S	+	2	0	PQLC2	19526342	0.683000	0.27633	0.984000	0.44739	0.394000	0.30568	1.234000	0.32660	1.179000	0.42884	0.484000	0.47621	TCT		0.602	PQLC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007255.1		NM_017765		9	81	0	0	0	0.080935	0	9	81		
HDAC1	3065	broad.mit.edu	37	1	32797278	32797278	+	Splice_Site	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr1:32797278C>T	ENST00000373548.3	+	11	1174	c.1090C>T	c.(1090-1092)Cag>Tag	p.Q364*	HDAC1_ENST00000490081.1_3'UTR|HDAC1_ENST00000373541.2_Splice_Site_p.Q171*	NM_004964.2	NP_004955.2	Q13547	HDAC1_HUMAN	histone deacetylase 1	364					ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|mitotic cell cycle (GO:0000278)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein deacetylation (GO:0006476)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	Vorinostat(DB02546)	TGGCCACAGACAGCGACTGTT	0.552																																						uc001bvb.1		NaN																	0				ovary(1)|lung(1)|breast(1)	3						c.(1090-1092)CAG>TAG		histone deacetylase 1	Vorinostat(DB02546)						97.0	95.0	96.0					1																	32797278		2203	4300	6503	SO:0001630	splice_region_variant	3065				anti-apoptosis|blood coagulation|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|histone H3 deacetylation|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of androgen receptor signaling pathway|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytosol|NuRD complex|Sin3 complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|identical protein binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|RNA polymerase II transcription corepressor activity|sequence-specific DNA binding transcription factor activity	g.chr1:32797278C>T	D50405	CCDS360.1	1p34	2008-02-05			ENSG00000116478	ENSG00000116478			4852	protein-coding gene	gene with protein product		601241		RPD3L1		8602529	Standard	NM_004964		Approved	HD1, GON-10	uc001bvb.1	Q13547	OTTHUMG00000007529	ENST00000373548.3:c.1089-1C>T	1.37:g.32797278C>T						HDAC1_uc010ohf.1_Nonsense_Mutation_p.Q335*|HDAC1_uc001bvc.1_Nonsense_Mutation_p.Q120*	p.Q364*	NM_004964	NP_004955	Q13547	HDAC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	11	1153	+		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)	364					Q92534	Nonsense_Mutation	SNP	ENST00000373548.3	37	c.1090C>T	CCDS360.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294616	0.81025	.	.	ENSG00000116478	ENST00000373548;ENST00000373541	.	.	.	4.28	4.28	0.50868	.	0.110880	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-19.5309	17.6011	0.88025	0.0:1.0:0.0:0.0	.	.	.	.	X	364;171	.	ENSP00000362642:Q171X	Q	+	1	0	HDAC1	32569865	1.000000	0.71417	1.000000	0.80357	0.349000	0.29174	7.675000	0.84002	2.330000	0.79161	0.563000	0.77884	CAG		0.552	HDAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019815.3		NM_004964	Nonsense_Mutation	26	89	0	0	0	0.125774	0	26	89		
CYP4Z1	199974	broad.mit.edu	37	1	47583503	47583503	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr1:47583503G>T	ENST00000334194.3	+	12	1418	c.1415G>T	c.(1414-1416)cGc>cTc	p.R472L	CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4Z1_ENST00000471598.1_3'UTR	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	472						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						ACTCTGCTCCGCTTCAAGCTG	0.468																																						uc001cqu.1		NaN																	0				skin(1)	1						c.(1414-1416)CGC>CTC		cytochrome P450 4Z1							83.0	73.0	76.0					1																	47583503		2203	4300	6503	SO:0001583	missense	199974					endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr1:47583503G>T	AY262056	CCDS545.1	1p33	2008-02-05			ENSG00000186160	ENSG00000186160		"""Cytochrome P450s"""	20583	protein-coding gene	gene with protein product						15059886	Standard	NM_178134		Approved	CYP4A20	uc001cqu.1	Q86W10	OTTHUMG00000008019	ENST00000334194.3:c.1415G>T	1.37:g.47583503G>T	ENSP00000334246:p.Arg472Leu						p.R472L	NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN			12	1418	+			472			Lumenal (Potential).		Q5VVE4	Missense_Mutation	SNP	ENST00000334194.3	37	c.1415G>T	CCDS545.1	.	.	.	.	.	.	.	.	.	.	g	16.11	3.030372	0.54790	.	.	ENSG00000186160	ENST00000334194	T	0.70399	-0.48	1.87	-1.39	0.08997	.	0.165528	0.36854	U	0.002373	T	0.77377	0.4121	M	0.72894	2.215	0.27585	N	0.949468	D	0.76494	0.999	D	0.69824	0.966	T	0.69793	-0.5049	10	0.66056	D	0.02	.	7.5357	0.27708	0.3894:0.0:0.6106:0.0	.	472	Q86W10	CP4Z1_HUMAN	L	472	ENSP00000334246:R472L	ENSP00000334246:R472L	R	+	2	0	CYP4Z1	47356090	0.069000	0.21087	0.069000	0.20011	0.524000	0.34500	-0.272000	0.08560	-0.464000	0.06963	0.271000	0.19318	CGC		0.468	CYP4Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022020.1		NM_178134		19	35	1	0	9.7654e-05	0.043863	0.000105708	19	35		
HAO2	51179	broad.mit.edu	37	1	119923746	119923746	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr1:119923746C>T	ENST00000325945.3	+	2	111	c.38C>T	c.(37-39)gCg>gTg	p.A13V	HAO2_ENST00000361035.4_Missense_Mutation_p.A26V	NM_001005783.1|NM_016527.2	NP_001005783.1|NP_057611.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	13	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				fatty acid oxidation (GO:0019395)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		CAGGCCCATGCGCGAGAGCAG	0.473																																						uc001ehq.1		NaN																	0				ovary(2)|skin(2)	4						c.(37-39)GCG>GTG		hydroxyacid oxidase 2							188.0	179.0	182.0					1																	119923746		2203	4300	6503	SO:0001583	missense	51179				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity	g.chr1:119923746C>T	AF231917	CCDS901.1	1p13.3-p13.1	2008-07-18			ENSG00000116882	ENSG00000116882	1.1.3.15		4810	protein-coding gene	gene with protein product	"""(S)-2-hydroxy-acid oxidase"", ""glycolate oxidase"", ""long-chain L-2-hydroxy acid oxidase"", ""growth-inhibiting protein 16"""	605176				10777549	Standard	XM_005270913		Approved	HAOX2, GIG16	uc001ehr.1	Q9NYQ3	OTTHUMG00000012410	ENST00000325945.3:c.38C>T	1.37:g.119923746C>T	ENSP00000316339:p.Ala13Val					HAO2_uc001ehr.1_Missense_Mutation_p.A13V	p.A13V	NM_001005783	NP_001005783	Q9NYQ3	HAOX2_HUMAN		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)	3	390	+	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)	13			FMN hydroxy acid dehydrogenase.		Q2TU86|Q5QP00|Q9UJS6	Missense_Mutation	SNP	ENST00000325945.3	37	c.38C>T	CCDS901.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.535835	0.64972	.	.	ENSG00000116882	ENST00000457318;ENST00000361035;ENST00000325945	T;T;T	0.57436	0.4;0.4;0.4	5.4	5.4	0.78164	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.099171	0.64402	D	0.000002	T	0.75012	0.3792	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.67725	0.953	T	0.80540	-0.1337	9	.	.	.	-18.1138	19.1748	0.93600	0.0:1.0:0.0:0.0	.	13	Q9NYQ3	HAOX2_HUMAN	V	13;26;13	ENSP00000393955:A13V;ENSP00000354314:A26V;ENSP00000316339:A13V	.	A	+	2	0	HAO2	119725269	1.000000	0.71417	0.034000	0.17996	0.001000	0.01503	7.226000	0.78060	2.542000	0.85734	0.655000	0.94253	GCG		0.473	HAO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034984.1		NM_001005783		4	144	0	0	0	0.014758	0	4	144		
SEC22B	9554	broad.mit.edu	37	1	145103956	145103956	+	RNA	SNP	C	C	T	rs199620408	byFrequency	TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr1:145103956C>T	ENST00000453618.1	+	0	451							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											GTAACTCTTTCGAAAGTTGAA	0.388													C|||	2	0.000399361	0.0	0.0	5008	,	,		49850	0.0		0.002	False		,,,				2504	0.0					uc001eml.1		NaN																	0					0						c.(124-126)CGA>TGA		SEC22 vesicle trafficking protein homolog B		C	stop/ARG	0,3884		0,0,1942	84.0	78.0	80.0		124	1.6	0.2	1		80	1,8287		0,1,4143	yes	stop-gained	SEC22B	NM_004892.4		0,1,6085	TT,TC,CC		0.0121,0.0,0.0082		42/216	145103956	1,12171	1942	4144	6086			9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145103956C>T	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145103956C>T						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron	p.R42*	NM_004892	NP_004883	O75396	SC22B_HUMAN			4	264	+			42			Longin.|Cytoplasmic (Potential).		A8K1G0	Nonsense_Mutation	SNP	ENST00000453618.1	37	c.124C>T																																																																																					0.388	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5		NM_004892		3	20	0	0	0	0.014758	0	3	20		
SNX27	81609	broad.mit.edu	37	1	151655862	151655862	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr1:151655862A>G	ENST00000458013.2	+	8	1300	c.1180A>G	c.(1180-1182)Aaa>Gaa	p.K394E	SNX27_ENST00000368838.1_Missense_Mutation_p.K301E|SNX27_ENST00000368843.3_Missense_Mutation_p.K394E			Q96L92	SNX27_HUMAN	sorting nexin family member 27	394	FERM-like region F2.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|establishment of natural killer cell polarity (GO:0001770)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to plasma membrane (GO:1990126)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGGTTACATCAAAGCAGAAGA	0.358																																					Colon(46;291 966 40145 41237 41888)	uc001eyn.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1180-1182)AAA>GAA		sorting nexin family member 27							125.0	117.0	120.0					1																	151655862		2203	4300	6503	SO:0001583	missense	81609				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding	g.chr1:151655862A>G	AB007957	CCDS1001.1	1q21.3	2008-03-11			ENSG00000143376	ENSG00000143376		"""Sorting nexins"""	20073	protein-coding gene	gene with protein product		611541				12461558	Standard	XM_005245509		Approved	MY014, KIAA0488, MGC20471	uc001eyn.1	Q96L92	OTTHUMG00000013052	ENST00000458013.2:c.1180A>G	1.37:g.151655862A>G	ENSP00000400333:p.Lys394Glu					SNX27_uc001eyo.2_Missense_Mutation_p.K301E|SNX27_uc001eyp.2_Missense_Mutation_p.K208E	p.K394E	NM_030918	NP_112180	Q96L92	SNX27_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		8	1196	+	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		394					Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8	Missense_Mutation	SNP	ENST00000458013.2	37	c.1180A>G		.	.	.	.	.	.	.	.	.	.	A	14.56	2.572325	0.45798	.	.	ENSG00000143376	ENST00000458013;ENST00000368843;ENST00000368838	T;T;T	0.50813	0.73;0.74;0.94	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.30792	0.0776	L	0.54323	1.7	0.58432	D	0.999998	P;P	0.44734	0.476;0.842	B;P	0.47645	0.147;0.553	T	0.31475	-0.9942	10	0.05620	T	0.96	.	13.1795	0.59647	1.0:0.0:0.0:0.0	.	394;394	Q96L92;Q96L92-3	SNX27_HUMAN;.	E	394;394;301	ENSP00000400333:K394E;ENSP00000357836:K394E;ENSP00000357831:K301E	ENSP00000357831:K301E	K	+	1	0	SNX27	149922486	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.172000	0.89677	2.326000	0.78906	0.533000	0.62120	AAA		0.358	SNX27-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000036624.3		NM_030918		8	23	0	0	0	0.058154	0	8	23		
RGS5	8490	broad.mit.edu	37	1	163117208	163117208	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr1:163117208C>G	ENST00000313961.5	-	5	747	c.470G>C	c.(469-471)aGa>aCa	p.R157T	RGS5_ENST00000367903.3_Missense_Mutation_p.R177T|RGS5_ENST00000530507.1_Missense_Mutation_p.R161T|RGS5_ENST00000527988.1_Missense_Mutation_p.R49T	NM_001254749.1|NM_003617.3	NP_001241678.1|NP_003608.1	O15539	RGS5_HUMAN	regulator of G-protein signaling 5	157	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			GGCATGGATTCTTTTCTGGGC	0.453																																						uc001gcn.2		NaN																	0					0						c.(469-471)AGA>ACA		regulator of G-protein signalling 5							152.0	138.0	143.0					1																	163117208		2203	4300	6503	SO:0001583	missense	8490				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:163117208C>G	AF030108	CCDS1244.1, CCDS55652.1, CCDS58041.1	1q23.1	2008-02-05	2007-08-14		ENSG00000143248	ENSG00000143248		"""Regulators of G-protein signaling"""	10001	protein-coding gene	gene with protein product		603276	"""regulator of G-protein signalling 5"""			9747037	Standard	NM_003617		Approved		uc021pdt.1	O15539	OTTHUMG00000034441	ENST00000313961.5:c.470G>C	1.37:g.163117208C>G	ENSP00000319308:p.Arg157Thr					RGS5_uc009wvb.2_RNA	p.R157T	NM_003617	NP_003608	O15539	RGS5_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.187)		5	717	-			157			RGS.		E9PMP5|Q53XA9|Q599J0	Missense_Mutation	SNP	ENST00000313961.5	37	c.470G>C	CCDS1244.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974541	0.74246	.	.	ENSG00000143248	ENST00000313961;ENST00000367903;ENST00000530507;ENST00000527988	T;T;T;T	0.01918	4.56;4.56;4.56;4.56	5.48	5.48	0.80851	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.045544	0.85682	D	0.000000	T	0.02083	0.0065	L	0.41710	1.295	0.44728	D	0.997726	B	0.31227	0.314	P	0.44732	0.459	T	0.40403	-0.9565	9	0.62326	D	0.03	.	10.3223	0.43773	0.0:0.9116:0.0:0.0884	.	157	O15539	RGS5_HUMAN	T	157;177;161;49	ENSP00000319308:R157T;ENSP00000356879:R177T;ENSP00000433001:R161T;ENSP00000432313:R49T	ENSP00000319308:R157T	R	-	2	0	RGS5	161383832	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	2.665000	0.46791	2.572000	0.86782	0.655000	0.94253	AGA		0.453	RGS5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083264.1		NM_003617		20	46	0	0	0	0.049695	0	20	46		
HMCN1	83872	broad.mit.edu	37	1	186024541	186024541	+	Silent	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr1:186024541C>T	ENST00000271588.4	+	45	7108	c.6879C>T	c.(6877-6879)acC>acT	p.T2293T	HMCN1_ENST00000367492.2_Silent_p.T2293T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2293	Ig-like C2-type 21.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAACCATAACCAACAGTGGCA	0.443																																						uc001grq.1		NaN																	0				ovary(22)|skin(1)	23						c.(6877-6879)ACC>ACT		hemicentin 1 precursor							57.0	58.0	58.0					1																	186024541		2203	4299	6502	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186024541C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.6879C>T	1.37:g.186024541C>T							p.T2293T	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			45	7108	+			2293			Ig-like C2-type 21.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.6879C>T	CCDS30956.1																																																																																				0.443	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1		NM_031935		19	37	0	0	0	0.062417	0	19	37		
SIPA1L2	57568	broad.mit.edu	37	1	232601037	232601037	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr1:232601037G>A	ENST00000366630.1	-	8	2727	c.2369C>T	c.(2368-2370)gCa>gTa	p.A790V	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.A790V|SIPA1L2_ENST00000308942.4_5'Flank			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	790	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				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)				TTTATGGGCTGCATTTTCTGC	0.488																																						uc001hvg.2		NaN																	0				ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6						c.(2368-2370)GCA>GTA		signal-induced proliferation-associated 1 like							96.0	96.0	96.0					1																	232601037		1961	4194	6155	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232601037G>A	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.2369C>T	1.37:g.232601037G>A	ENSP00000355589:p.Ala790Val					SIPA1L2_uc001hvf.2_5'Flank	p.A790V	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN			7	2527	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	790			Rap-GAP.		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.2369C>T	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	G	33	5.291117	0.95546	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	T;T	0.55052	0.54;0.54	5.8	5.8	0.92144	Rap/ran-GAP (2);	0.055455	0.64402	D	0.000001	T	0.78698	0.4324	M	0.90145	3.09	0.80722	D	1	D	0.59357	0.985	D	0.67900	0.954	T	0.81839	-0.0748	10	0.66056	D	0.02	-20.5425	20.053	0.97634	0.0:0.0:1.0:0.0	.	790	Q9P2F8	SI1L2_HUMAN	V	790	ENSP00000355589:A790V;ENSP00000262861:A790V	ENSP00000262861:A790V	A	-	2	0	SIPA1L2	230667660	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.869000	0.99810	2.733000	0.93635	0.650000	0.86243	GCA		0.488	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1		XM_045839		4	138	0	0	0	0.014758	0	4	138		
LYST	1130	broad.mit.edu	37	1	235952067	235952067	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr1:235952067G>A	ENST00000389794.3	-	13	4796	c.4622C>T	c.(4621-4623)tCa>tTa	p.S1541L	LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.S1541L			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1541					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GGATCCCAGTGAAATTATATG	0.408																																						uc001hxj.2		NaN																	0				ovary(6)|breast(4)|central_nervous_system(2)	12						c.(4621-4623)TCA>TTA		lysosomal trafficking regulator							98.0	86.0	90.0					1																	235952067		2203	4300	6503	SO:0001583	missense	1130	Chediak-Higashi_syndrome			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235952067G>A	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.4622C>T	1.37:g.235952067G>A	ENSP00000374444:p.Ser1541Leu					LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA	p.S1541L	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		13	4797	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	1541					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.4622C>T	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	G	32	5.185844	0.94885	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.79554	-1.28;-1.28	5.4	5.4	0.78164	.	3.992600	0.00447	N	0.000082	D	0.91566	0.7336	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.77819	-0.2446	10	0.87932	D	0	.	17.3508	0.87323	0.0:0.0:1.0:0.0	.	1541	Q99698	LYST_HUMAN	L	1541	ENSP00000374444:S1541L;ENSP00000374443:S1541L	ENSP00000374443:S1541L	S	-	2	0	LYST	234018690	1.000000	0.71417	0.721000	0.30653	0.992000	0.81027	8.763000	0.91715	2.528000	0.85240	0.563000	0.77884	TCA		0.408	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5				11	20	0	0	0	0.069234	0	11	20		
HEATR1	55127	broad.mit.edu	37	1	236716940	236716940	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr1:236716940A>G	ENST00000366582.3	-	43	6292	c.6178T>C	c.(6178-6180)Tct>Cct	p.S2060P	HEATR1_ENST00000366581.2_Missense_Mutation_p.S1979P	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	2060					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TTCCAAAGAGAGTCATCCGCC	0.493																																						uc001hyd.1		NaN																	0				ovary(2)|skin(1)	3						c.(6178-6180)TCT>CCT		protein BAP28							156.0	136.0	143.0					1																	236716940		2203	4300	6503	SO:0001583	missense	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236716940A>G	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.6178T>C	1.37:g.236716940A>G	ENSP00000355541:p.Ser2060Pro					HEATR1_uc009xgh.1_Missense_Mutation_p.S1222P	p.S2060P	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		43	6303	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	2060					Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	c.6178T>C	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	A	16.30	3.083275	0.55861	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.65549	-0.16;-0.16	4.99	4.99	0.66335	Armadillo-like helical (1);Armadillo-type fold (1);	0.053759	0.85682	D	0.000000	T	0.77232	0.4100	M	0.69823	2.125	0.80722	D	1	P;D	0.89917	0.485;1.0	B;D	0.71184	0.166;0.972	T	0.79969	-0.1579	10	0.66056	D	0.02	.	15.1525	0.72713	1.0:0.0:0.0:0.0	.	1979;2060	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	P	2060;1979	ENSP00000355541:S2060P;ENSP00000355540:S1979P	ENSP00000355540:S1979P	S	-	1	0	HEATR1	234783563	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.551000	0.53698	2.232000	0.73038	0.528000	0.53228	TCT		0.493	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1		XM_375853		16	55	0	0	0	0.050027	0	16	55		
HEATR1	55127	broad.mit.edu	37	1	236716964	236716964	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr1:236716964A>G	ENST00000366582.3	-	43	6268	c.6154T>C	c.(6154-6156)Ttt>Ctt	p.F2052L	HEATR1_ENST00000366581.2_Missense_Mutation_p.F1971L	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	2052					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GCCACCGAAAACTGTGCGATG	0.493																																						uc001hyd.1		NaN																	0				ovary(2)|skin(1)	3						c.(6154-6156)TTT>CTT		protein BAP28							156.0	137.0	143.0					1																	236716964		2203	4300	6503	SO:0001583	missense	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236716964A>G	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.6154T>C	1.37:g.236716964A>G	ENSP00000355541:p.Phe2052Leu					HEATR1_uc009xgh.1_Missense_Mutation_p.F1214L	p.F2052L	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		43	6279	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	2052					Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	c.6154T>C	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.655797	0.88056	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.63096	-0.02;-0.02	5.23	5.23	0.72850	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.37812	0.1017	N	0.12527	0.23	0.80722	D	1	B;P	0.38551	0.04;0.636	B;B	0.29663	0.057;0.105	T	0.39840	-0.9594	10	0.09590	T	0.72	.	15.5804	0.76432	1.0:0.0:0.0:0.0	.	1971;2052	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	L	2052;1971	ENSP00000355541:F2052L;ENSP00000355540:F1971L	ENSP00000355540:F1971L	F	-	1	0	HEATR1	234783587	1.000000	0.71417	0.997000	0.53966	0.576000	0.36127	8.688000	0.91260	2.322000	0.78497	0.528000	0.53228	TTT		0.493	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1		XM_375853		19	58	0	0	0	0.080422	0	19	58		
OR2T33	391195	broad.mit.edu	37	1	248436878	248436878	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr1:248436878G>A	ENST00000318021.2	-	1	260	c.239C>T	c.(238-240)gCg>gTg	p.A80V		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GTAGTCAGCCGCCATTTTGGG	0.567																																						uc010pzi.1		NaN																	0				large_intestine(1)|ovary(1)	2						c.(238-240)GCG>GTG		olfactory receptor, family 2, subfamily T,							65.0	62.0	63.0					1																	248436878		2087	4077	6164	SO:0001583	missense	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248436878G>A		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.239C>T	1.37:g.248436878G>A	ENSP00000324687:p.Ala80Val						p.A80V	NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	239	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		80			Extracellular (Potential).		B2RNN0	Missense_Mutation	SNP	ENST00000318021.2	37	c.239C>T	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	4.792	0.147207	0.09134	.	.	ENSG00000177212	ENST00000318021	T	0.00441	7.41	2.7	0.695	0.18070	GPCR, rhodopsin-like superfamily (1);	0.224332	0.22373	U	0.060913	T	0.00210	0.0006	L	0.33137	0.985	0.09310	N	1	P	0.43885	0.82	B	0.34652	0.187	T	0.34527	-0.9825	10	0.09084	T	0.74	.	5.7703	0.18249	0.4414:0.0:0.5586:0.0	.	80	Q8NG76	O2T33_HUMAN	V	80	ENSP00000324687:A80V	ENSP00000324687:A80V	A	-	2	0	OR2T33	246503501	0.484000	0.25964	0.379000	0.26080	0.203000	0.24098	3.948000	0.56660	0.408000	0.25621	0.494000	0.49563	GCG		0.567	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1		NM_001004695		51	163	0	0	0	0.139131	0	51	163		
RPP38	10557	broad.mit.edu	37	10	15145354	15145354	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr10:15145354G>A	ENST00000378197.4	+	3	555	c.41G>A	c.(40-42)cGt>cAt	p.R14H	RPP38_ENST00000451677.1_Intron|NMT2_ENST00000466201.1_5'UTR|RPP38_ENST00000378202.5_Missense_Mutation_p.R14H	NM_183005.4	NP_892117.1	P78345	RPP38_HUMAN	ribonuclease P/MRP 38kDa subunit	14					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	ribonuclease P activity (GO:0004526)			breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)	8						GGATCTCTCCGTAAGACGAGA	0.498																																					GBM(118;1591 1611 9649 34378 50720)	uc001iny.3		NaN																	0				ovary(1)	1						c.(40-42)CGT>CAT		ribonuclease P/MRP 38 subunit							68.0	72.0	70.0					10																	15145354		2203	4300	6503	SO:0001583	missense	10557				tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	g.chr10:15145354G>A	U77664	CCDS7108.1	10p13	2012-05-21			ENSG00000152464	ENSG00000152464			30329	protein-coding gene	gene with protein product		606116				9037013, 9630247	Standard	NM_183005		Approved		uc001inx.5	P78345	OTTHUMG00000017728	ENST00000378197.4:c.41G>A	10.37:g.15145354G>A	ENSP00000367439:p.Arg14His					RPP38_uc009xjm.2_Missense_Mutation_p.R14H|RPP38_uc001inx.3_Missense_Mutation_p.R14H	p.R14H	NM_183005	NP_892117	P78345	RPP38_HUMAN			3	754	+			14					B3KPY0|D3DRT8|Q53F71|Q8NHS8	Missense_Mutation	SNP	ENST00000378197.4	37	c.41G>A	CCDS7108.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.711209	0.48517	.	.	ENSG00000152464	ENST00000378203;ENST00000378201;ENST00000378202;ENST00000378197;ENST00000441850	T;T;T;T	0.28454	2.42;2.42;2.42;1.61	5.75	3.9	0.45041	.	0.130109	0.49305	D	0.000149	T	0.48003	0.1476	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	P	0.61800	0.894	T	0.50432	-0.8829	10	0.72032	D	0.01	-21.6553	8.3006	0.32012	0.141:0.13:0.729:0.0	.	14	P78345	RPP38_HUMAN	H	14	ENSP00000367445:R14H;ENSP00000367444:R14H;ENSP00000367439:R14H;ENSP00000402635:R14H	ENSP00000367439:R14H	R	+	2	0	RPP38	15185360	1.000000	0.71417	0.086000	0.20670	0.081000	0.17604	4.757000	0.62213	1.438000	0.47492	0.650000	0.86243	CGT		0.498	RPP38-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046976.1		NM_006414		26	70	0	0	0	0.099896	0	26	70		
NPFFR1	64106	broad.mit.edu	37	10	72026088	72026088	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr10:72026088C>T	ENST00000277942.6	-	2	66	c.67G>A	c.(67-69)Gag>Aag	p.E23K		NM_022146.4	NP_071429.1	Q9GZQ6	NPFF1_HUMAN	neuropeptide FF receptor 1	23					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)			endometrium(2)|lung(1)	3						GGGGTGGCCTCAGTGTTAGTC	0.557																																						uc010qjk.1		NaN																	0					0						c.(61-63)GAG>AAG		neuropeptide FF receptor 1							81.0	82.0	82.0					10																	72026088		2031	4176	6207	SO:0001583	missense	64106					integral to membrane|plasma membrane	neuropeptide receptor activity	g.chr10:72026088C>T	AB040104	CCDS53539.1	10q21-q22	2012-08-10	2006-02-15	2006-02-15	ENSG00000148734	ENSG00000148734		"""GPCR / Class A :  Neuropeptide receptors : FF/AF"", ""GPCR / Class A : RF amide peptide receptors"""	17425	protein-coding gene	gene with protein product	"""neuropeptide FF 1"""	607448	"""G protein-coupled receptor 147"""	GPR147		11024015	Standard	NM_022146		Approved	OT7T022, NPFF1R1	uc021psj.1	Q9GZQ6	OTTHUMG00000018404	ENST00000277942.6:c.67G>A	10.37:g.72026088C>T	ENSP00000277942:p.Glu23Lys						p.E21K	NM_022146	NP_071429	Q9GZQ6	NPFF1_HUMAN			1	67	-			23			Extracellular (Potential).		A2RRF0|Q8NGR0|Q96RN3	Missense_Mutation	SNP	ENST00000277942.6	37	c.61G>A	CCDS53539.1	.	.	.	.	.	.	.	.	.	.	C	7.418	0.636038	0.14386	.	.	ENSG00000148734	ENST00000449957;ENST00000277942	T;T	0.37915	1.17;1.17	5.04	0.541	0.17168	.	1.616150	0.03893	N	0.279052	T	0.18257	0.0438	N	0.12746	0.255	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17471	-1.0368	10	0.06494	T	0.89	.	5.7841	0.18322	0.0:0.3416:0.4476:0.2108	.	23	Q9GZQ6	NPFF1_HUMAN	K	21;23	ENSP00000401171:E21K;ENSP00000277942:E23K	ENSP00000277942:E23K	E	-	1	0	NPFFR1	71696094	0.000000	0.05858	0.003000	0.11579	0.099000	0.18886	0.127000	0.15790	0.474000	0.27392	0.313000	0.20887	GAG		0.557	NPFFR1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048504.2		NM_022146		5	27	0	0	0	0.014758	0	5	27		
DNTT	1791	broad.mit.edu	37	10	98078110	98078110	+	Splice_Site	SNP	G	G	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr10:98078110G>A	ENST00000371174.2	+	2	307	c.205G>A	c.(205-207)Gat>Aat	p.D69N	DNTT_ENST00000419175.1_Splice_Site_p.D69N			P04053	TDT_HUMAN	DNA nucleotidylexotransferase	69	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				DNA modification (GO:0006304)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA nucleotidylexotransferase activity (GO:0003912)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		ATTTTGCAGTGATTCTGTCAC	0.458																																						uc001kmf.2		NaN																	0				ovary(1)	1						c.(205-207)GAT>AAT		terminal deoxynucleotidyltransferase isoform 1							191.0	192.0	192.0					10																	98078110		2203	4300	6503	SO:0001630	splice_region_variant	1791				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	g.chr10:98078110G>A	AB046378	CCDS7447.1	10q23-q24	2013-05-21	2013-05-21		ENSG00000107447	ENSG00000107447	2.7.7.31	"""DNA polymerases"""	2983	protein-coding gene	gene with protein product	"""Terminal deoxynucleotidyltransferase"""	187410	"""deoxynucleotidyltransferase, terminal"""				Standard	NM_004088		Approved	TDT	uc001kmf.3	P04053	OTTHUMG00000018832	ENST00000371174.2:c.204-1G>A	10.37:g.98078110G>A						DNTT_uc001kmg.2_Missense_Mutation_p.D69N	p.D69N	NM_004088	NP_004079	P04053	TDT_HUMAN		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)	2	375	+		Colorectal(252;0.0815)|all_hematologic(284;0.224)	69			BRCT.		Q53FH1|Q5W103|Q96E50	Missense_Mutation	SNP	ENST00000371174.2	37	c.205G>A	CCDS7447.1	.	.	.	.	.	.	.	.	.	.	G	11.57	1.679554	0.29783	.	.	ENSG00000107447	ENST00000419175;ENST00000371174	T;T	0.79653	-1.29;-1.29	5.62	3.45	0.39498	BRCT (4);	0.339058	0.33327	N	0.005035	T	0.71953	0.3401	L	0.40543	1.245	0.41093	D	0.985611	B;B	0.15141	0.009;0.012	B;B	0.26864	0.044;0.074	T	0.65676	-0.6110	10	0.23891	T	0.37	3.0E-4	11.0627	0.47957	0.1777:0.0:0.8223:0.0	.	69;69	P04053-2;P04053	.;TDT_HUMAN	N	69	ENSP00000401169:D69N;ENSP00000360216:D69N	ENSP00000360216:D69N	D	+	1	0	DNTT	98068100	1.000000	0.71417	0.999000	0.59377	0.584000	0.36387	4.190000	0.58365	1.390000	0.46547	-0.244000	0.11960	GAT		0.458	DNTT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049607.1		NM_004088	Missense_Mutation	55	83	0	0	0	0.139131	0	55	83		
SORCS1	114815	broad.mit.edu	37	10	108380301	108380301	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr10:108380301T>C	ENST00000263054.6	-	20	2688	c.2681A>G	c.(2680-2682)cAc>cGc	p.H894R	SORCS1_ENST00000344440.6_Missense_Mutation_p.H894R|SORCS1_ENST00000478809.2_5'Flank|SORCS1_ENST00000369698.1_Missense_Mutation_p.H429R	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	894	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AAGAGACAGGTGCACGTGCTC	0.557																																						uc001kym.2		NaN																	0				breast(1)|central_nervous_system(1)	2						c.(2680-2682)CAC>CGC		SORCS receptor 1 isoform a							120.0	102.0	108.0					10																	108380301		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108380301T>C	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.2681A>G	10.37:g.108380301T>C	ENSP00000263054:p.His894Arg					SORCS1_uc001kyl.2_Missense_Mutation_p.H894R|SORCS1_uc009xxs.2_Missense_Mutation_p.H894R|SORCS1_uc001kyn.1_Missense_Mutation_p.H894R|SORCS1_uc001kyo.2_Missense_Mutation_p.H894R	p.H894R	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	20	2689	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	894			Lumenal (Potential).|PKD.		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.2681A>G	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	T	17.51	3.407383	0.62399	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.22539	1.95;2.49;2.49	5.75	5.75	0.90469	PKD domain (1);	0.057641	0.64402	D	0.000001	T	0.29914	0.0748	M	0.66939	2.045	0.58432	D	0.999995	B;B;P;P;P	0.42375	0.073;0.12;0.778;0.67;0.778	B;B;B;B;B	0.43103	0.046;0.099;0.408;0.231;0.408	T	0.02713	-1.1120	9	.	.	.	-24.1113	16.0632	0.80853	0.0:0.0:0.0:1.0	.	894;894;894;894;894	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	R	429;894;894	ENSP00000358712:H429R;ENSP00000263054:H894R;ENSP00000345964:H894R	.	H	-	2	0	SORCS1	108370291	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.463000	0.80869	2.191000	0.70037	0.533000	0.62120	CAC		0.557	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4		NM_052918		17	30	0	0	0	0.0333	0	17	30		
INPP5A	3632	broad.mit.edu	37	10	134563026	134563026	+	Silent	SNP	C	C	G			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr10:134563026C>G	ENST00000368594.3	+	10	1015	c.738C>G	c.(736-738)ctC>ctG	p.L246L	INPP5A_ENST00000368593.3_Silent_p.L246L	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	246					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|PH domain binding (GO:0042731)			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		TGCAGACGCTCTGCACAAAAG	0.612																																					Pancreas(63;823 1267 11107 20380 51626)	uc001llp.2		NaN																	0				skin(1)	1						c.(736-738)CTC>CTG		inositol polyphosphate-5-phosphatase A							56.0	54.0	54.0					10																	134563026		2202	4299	6501	SO:0001819	synonymous_variant	3632				cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding	g.chr10:134563026C>G	X77567	CCDS7669.2	10q26.3	2008-08-07	2002-08-29		ENSG00000068383	ENSG00000068383	3.1.3.56		6076	protein-coding gene	gene with protein product	"""CTCL tumor antigen HD-CL-02"", ""43 kDa inositol polyphosphate 5-phophatase"", ""inositol polyphosphate 5-phophatase, 40kDa"", ""InsP3 5-phosphatase"", ""type I inositol-1,4,5-trisphosphate 5-phosphatase"""	600106	"""inositol polyphosphate-5-phosphatase, 40kD"""			8013665	Standard	NM_005539		Approved	5PTASE	uc001llp.3	Q14642	OTTHUMG00000019293	ENST00000368594.3:c.738C>G	10.37:g.134563026C>G						INPP5A_uc001llo.1_Silent_p.L246L|INPP5A_uc001llq.2_Intron	p.L246L	NM_005539	NP_005530	Q14642	I5P1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)	10	986	+		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)	246					D3DXI3|Q14640|Q5JSF1	Silent	SNP	ENST00000368594.3	37	c.738C>G	CCDS7669.2																																																																																				0.612	INPP5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051085.1		NM_005539		23	47	0	0	0	0.099896	0	23	47		
QSER1	79832	broad.mit.edu	37	11	32994985	32994985	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr11:32994985G>A	ENST00000399302.2	+	11	5196	c.4861G>A	c.(4861-4863)Gat>Aat	p.D1621N	QSER1_ENST00000527788.1_Missense_Mutation_p.D1382N	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1621										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					AATTACTCGAGATTCTAAAGC	0.333																																						uc001mty.2		NaN																	0				ovary(3)|central_nervous_system(2)|skin(1)	6						c.(4861-4863)GAT>AAT		glutamine and serine rich 1							87.0	82.0	84.0					11																	32994985		1816	4070	5886	SO:0001583	missense	79832							g.chr11:32994985G>A	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.4861G>A	11.37:g.32994985G>A	ENSP00000382241:p.Asp1621Asn					QSER1_uc001mtz.1_Missense_Mutation_p.D1382N|QSER1_uc001mua.2_Missense_Mutation_p.D1126N	p.D1621N	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN			11	5128	+	Breast(20;0.158)		1621					Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	37	c.4861G>A	CCDS41631.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.772368	0.90108	.	.	ENSG00000060749	ENST00000399302;ENST00000527788	T;T	0.48836	0.8;0.8	5.53	5.53	0.82687	.	0.327625	0.19824	U	0.105233	T	0.54615	0.1869	L	0.43152	1.355	0.43313	D	0.995324	P;P	0.51537	0.763;0.946	P;P	0.51701	0.463;0.677	T	0.49688	-0.8913	10	0.38643	T	0.18	.	19.4448	0.94843	0.0:0.0:1.0:0.0	.	1382;1621	Q2KHR3-2;Q2KHR3	.;QSER1_HUMAN	N	1621;1382	ENSP00000382241:D1621N;ENSP00000432766:D1382N	ENSP00000382241:D1621N	D	+	1	0	QSER1	32951561	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.081000	0.64444	2.604000	0.88044	0.655000	0.94253	GAT		0.333	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1		NM_024774		23	30	0	0	0	0.069288	0	23	30		
TYR	7299	broad.mit.edu	37	11	88911384	88911384	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr11:88911384C>T	ENST00000263321.5	+	1	765	c.263C>T	c.(262-264)aCc>aTc	p.T88I	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	88					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	TATAATAGGACCTGCCAGTGC	0.502																																						uc001pcs.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(262-264)ACC>ATC		tyrosinase precursor	Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)						46.0	46.0	46.0					11																	88911384		2201	4299	6500	SO:0001583	missense	7299	Oculocutaneous_Albinism			eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:88911384C>T	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"""oculocutaneous albinism IA"""	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.263C>T	11.37:g.88911384C>T	ENSP00000263321:p.Thr88Ile						p.T88I	NM_000372	NP_000363	P14679	TYRO_HUMAN			1	345	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	88			Lumenal, melanosome (Potential).		Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	ENST00000263321.5	37	c.263C>T	CCDS8284.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.305019	0.81247	.	.	ENSG00000077498	ENST00000263321	D	0.84660	-1.88	6.07	6.07	0.98685	Uncharacterised domain, di-copper centre (2);	0.000000	0.85682	D	0.000000	D	0.93848	0.8032	M	0.87971	2.92	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93300	0.6676	9	.	.	.	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	88	P14679	TYRO_HUMAN	I	88	ENSP00000263321:T88I	.	T	+	2	0	TYR	88551032	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.395000	0.79876	2.885000	0.99019	0.655000	0.94253	ACC		0.502	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2		NM_000372		9	36	0	0	0	0.047766	0	9	36		
KCNA6	3742	broad.mit.edu	37	12	4919301	4919301	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr12:4919301G>A	ENST00000280684.3	+	1	960	c.94G>A	c.(94-96)Ggc>Agc	p.G32S	KCNA6_ENST00000433855.1_Missense_Mutation_p.G32S|RP11-234B24.4_ENST00000542988.1_lincRNA			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	32					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	CCCGGAGGCCGGCGGGGGCGG	0.662										HNSCC(72;0.22)																												uc001qng.2		NaN																	0				skin(2)|ovary(1)	3						c.(94-96)GGC>AGC		potassium voltage-gated channel, shaker-related							22.0	32.0	28.0					12																	4919301		2199	4292	6491	SO:0001583	missense	3742					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:4919301G>A	X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.94G>A	12.37:g.4919301G>A	ENSP00000280684:p.Gly32Ser	HNSCC(72;0.22)					p.G32S	NM_002235	NP_002226	P17658	KCNA6_HUMAN			1	960	+			32						Missense_Mutation	SNP	ENST00000280684.3	37	c.94G>A	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	G	9.003	0.980666	0.18812	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	D;D	0.97089	-4.24;-4.24	4.46	4.46	0.54185	.	0.693696	0.12842	N	0.434695	D	0.89501	0.6733	N	0.14661	0.345	0.09310	N	0.999995	B	0.29955	0.263	B	0.11329	0.006	T	0.80728	-0.1253	10	0.09338	T	0.73	.	5.58	0.17245	0.0994:0.0:0.7026:0.1979	.	32	P17658	KCNA6_HUMAN	S	32	ENSP00000408321:G32S;ENSP00000280684:G32S	ENSP00000280684:G32S	G	+	1	0	KCNA6	4789562	0.914000	0.31030	0.824000	0.32777	0.934000	0.57294	3.570000	0.53834	2.305000	0.77605	0.462000	0.41574	GGC		0.662	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1		NM_002235		27	56	0	0	0	0.045705	0	27	56		
SP1	6667	broad.mit.edu	37	12	53776442	53776442	+	Silent	SNP	C	C	G			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr12:53776442C>G	ENST00000327443.4	+	3	809	c.711C>G	c.(709-711)ccC>ccG	p.P237P	SP1_ENST00000426431.2_Silent_p.P230P	NM_001251825.1|NM_138473.2	NP_001238754.1|NP_612482.2	P08047	SP1_HUMAN	Sp1 transcription factor	237	Transactivation domain A (Gln-rich).				cellular lipid metabolic process (GO:0044255)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|gene expression (GO:0010467)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|ossification (GO:0001503)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	bHLH transcription factor binding (GO:0043425)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|histone deacetylase binding (GO:0042826)|HMG box domain binding (GO:0071837)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		AGGCTGTCCCCCTCCAAGGCC	0.488																																						uc001scw.2		NaN																	0				ovary(1)|breast(1)|skin(1)	3						c.(709-711)CCC>CCG		Sp1 transcription factor isoform a							115.0	105.0	108.0					12																	53776442		2203	4300	6503	SO:0001819	synonymous_variant	6667				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:53776442C>G	J03133	CCDS8857.1, CCDS44898.1	12q13.1	2013-01-08						"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11205	protein-coding gene	gene with protein product	"""specificity protein 1"""	189906				1662663	Standard	NM_003109		Approved		uc001scw.3	P08047	OTTHUMG00000170047	ENST00000327443.4:c.711C>G	12.37:g.53776442C>G						SP1_uc010sog.1_Silent_p.P230P	p.P237P	NM_138473	NP_612482	P08047	SP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.00527)	3	808	+			237			Transactivation domain A (Gln-rich).		E4Z9M7|G5E9M8|Q86TN8|Q9H3Q5|Q9NR51|Q9NY21|Q9NYE7	Silent	SNP	ENST00000327443.4	37	c.711C>G	CCDS8857.1																																																																																				0.488	SP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407044.1				24	61	0	0	0	0.069288	0	24	61		
C12orf45	121053	broad.mit.edu	37	12	105381948	105381948	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr12:105381948T>A	ENST00000552951.1	+	2	162	c.119T>A	c.(118-120)aTa>aAa	p.I40K	C12orf45_ENST00000280749.5_Missense_Mutation_p.I40K	NM_152318.2	NP_689531.2	Q8N5I9	CL045_HUMAN	chromosome 12 open reading frame 45	40										large_intestine(1)|lung(2)	3						TTTTCAGGTATATGGGACAGG	0.438																																						uc001tlb.2		NaN																	0					0						c.(118-120)ATA>AAA		hypothetical protein LOC121053							115.0	106.0	108.0					12																	105381948		1868	4112	5980	SO:0001583	missense	121053							g.chr12:105381948T>A	BC032326	CCDS41825.1	12q23.3	2012-05-30			ENSG00000151131	ENSG00000151131			28628	protein-coding gene	gene with protein product						12477932	Standard	NM_152318		Approved	MGC40397	uc001tlb.3	Q8N5I9	OTTHUMG00000169822	ENST00000552951.1:c.119T>A	12.37:g.105381948T>A	ENSP00000447057:p.Ile40Lys						p.I40K	NM_152318	NP_689531	Q8N5I9	CL045_HUMAN			2	152	+			40						Missense_Mutation	SNP	ENST00000552951.1	37	c.119T>A	CCDS41825.1	.	.	.	.	.	.	.	.	.	.	T	15.14	2.743980	0.49151	.	.	ENSG00000151131	ENST00000552951;ENST00000280749	T;T	0.43294	1.23;0.95	4.81	3.67	0.42095	.	0.380679	0.29602	N	0.011688	T	0.42314	0.1197	M	0.67953	2.075	0.40957	D	0.984592	B	0.28880	0.226	B	0.34873	0.191	T	0.44190	-0.9344	10	0.87932	D	0	-8.639	7.5458	0.27766	0.0:0.0994:0.0:0.9006	.	40	Q8N5I9	CL045_HUMAN	K	40	ENSP00000447057:I40K;ENSP00000280749:I40K	ENSP00000280749:I40K	I	+	2	0	C12orf45	103906078	1.000000	0.71417	0.999000	0.59377	0.744000	0.42396	3.683000	0.54663	0.946000	0.37632	0.533000	0.62120	ATA		0.438	C12orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406076.1		NM_152318		7	10	0	0	0	0.02938	0	7	10		
NBEA	26960	broad.mit.edu	37	13	36026232	36026232	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr13:36026232C>T	ENST00000400445.3	+	40	6842	c.6308C>T	c.(6307-6309)aCg>aTg	p.T2103M	NBEA_ENST00000379939.2_Missense_Mutation_p.T2100M|NBEA_ENST00000310336.4_Missense_Mutation_p.T2103M|NBEA_ENST00000540320.1_Missense_Mutation_p.T2103M	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2103					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TGATTAGGCACGGAAGAAGAT	0.308																																						uc001uvb.2		NaN																	0				ovary(9)|large_intestine(2)	11						c.(6307-6309)ACG>ATG		neurobeachin							75.0	70.0	71.0					13																	36026232		1864	4090	5954	SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:36026232C>T	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.6308C>T	13.37:g.36026232C>T	ENSP00000383295:p.Thr2103Met					NBEA_uc010abi.2_Missense_Mutation_p.T759M	p.T2103M	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	40	6514	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	2103					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	c.6308C>T	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.409523	0.42715	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.45	5.45	0.79879	Domain of unknown function DUF1088 (1);	1.356650	0.04269	N	0.341734	T	0.49133	0.1539	N	0.14661	0.345	0.80722	D	1	D;P	0.57571	0.98;0.939	P;P	0.53809	0.677;0.735	T	0.49943	-0.8885	10	0.59425	D	0.04	.	19.2813	0.94053	0.0:1.0:0.0:0.0	.	2103;2100	Q8NFP9;Q5T321	NBEA_HUMAN;.	M	2103;2103;2100;2103;730	ENSP00000440951:T2103M;ENSP00000383295:T2103M;ENSP00000369271:T2100M;ENSP00000308534:T2103M	ENSP00000308534:T2103M	T	+	2	0	NBEA	34924232	1.000000	0.71417	1.000000	0.80357	0.464000	0.32679	3.714000	0.54889	2.542000	0.85734	0.655000	0.94253	ACG		0.308	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_015678		9	12	0	0	0	0.09319	0	9	12		
MIPOL1	145282	broad.mit.edu	37	14	37892073	37892073	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr14:37892073C>T	ENST00000327441.7	+	12	1416	c.950C>T	c.(949-951)tCt>tTt	p.S317F	MIPOL1_ENST00000536774.1_Missense_Mutation_p.S136F|MIPOL1_ENST00000556451.1_Missense_Mutation_p.S286F|MIPOL1_ENST00000396294.2_Missense_Mutation_p.S317F|MIPOL1_ENST00000545536.1_Missense_Mutation_p.S286F|MIPOL1_ENST00000537471.1_Missense_Mutation_p.S317F|MIPOL1_ENST00000539062.2_Missense_Mutation_p.S286F	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	317						nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		AAGTTGTTATCTATGCAACAA	0.323																																						uc001wuc.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(949-951)TCT>TTT		mirror-image polydactyly 1							34.0	33.0	33.0					14																	37892073		2202	4297	6499	SO:0001583	missense	145282							g.chr14:37892073C>T	AY059470	CCDS9664.1	14q13.3	2010-05-25			ENSG00000151338	ENSG00000151338			21460	protein-coding gene	gene with protein product		606850				11954550, 19667180	Standard	NM_001195296		Approved		uc001wuc.3	Q8TD10	OTTHUMG00000140252	ENST00000327441.7:c.950C>T	14.37:g.37892073C>T	ENSP00000333539:p.Ser317Phe					MIPOL1_uc010amr.2_RNA|MIPOL1_uc001wub.3_Missense_Mutation_p.S286F|MIPOL1_uc001wud.2_Missense_Mutation_p.S317F|MIPOL1_uc010ams.2_Missense_Mutation_p.S317F|MIPOL1_uc001wue.2_Missense_Mutation_p.S286F|MIPOL1_uc010amt.2_Missense_Mutation_p.S136F	p.S317F	NM_138731	NP_620059	Q8TD10	MIPO1_HUMAN	Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)	12	1453	+	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		317			Potential.		D3DSA4|Q7Z3J0|Q8IV14	Missense_Mutation	SNP	ENST00000327441.7	37	c.950C>T	CCDS9664.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.748362	0.49257	.	.	ENSG00000151338	ENST00000327441;ENST00000536774;ENST00000539062;ENST00000556451;ENST00000396294;ENST00000537471;ENST00000545536	T;T;T;T;T;T	0.48201	0.83;0.84;0.82;0.83;0.83;0.82	5.81	5.81	0.92471	.	0.222047	0.37437	N	0.002099	T	0.41858	0.1177	L	0.37630	1.12	0.32995	D	0.525494	B;B	0.16802	0.005;0.019	B;B	0.14578	0.007;0.011	T	0.49093	-0.8975	10	0.48119	T	0.1	-1.322	16.9952	0.86365	0.0:1.0:0.0:0.0	.	317;286	Q8TD10;Q49AL5	MIPO1_HUMAN;.	F	317;136;286;286;317;317;286	ENSP00000333539:S317F;ENSP00000438319:S286F;ENSP00000450479:S286F;ENSP00000379589:S317F;ENSP00000444254:S317F;ENSP00000442529:S286F	ENSP00000333539:S317F	S	+	2	0	MIPOL1	36961824	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.846000	0.48262	2.756000	0.94617	0.585000	0.79938	TCT		0.323	MIPOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276734.1		NM_138731		7	14	0	0	0	0.058154	0	7	14		
ATG14	22863	broad.mit.edu	37	14	55836491	55836491	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr14:55836491C>T	ENST00000247178.5	-	10	1360	c.1325G>A	c.(1324-1326)cGg>cAg	p.R442Q		NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN	autophagy related 14	442	BATS. {ECO:0000250}.				autophagic vacuole assembly (GO:0000045)|endosome to lysosome transport (GO:0008333)|positive regulation of autophagy (GO:0010508)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|pre-autophagosomal structure membrane (GO:0034045)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						ATCACAAAACCGGGGACTAGG	0.587																																						uc001xbx.1		NaN																	0					0						c.(1324-1326)CGG>CAG		Barkor							96.0	86.0	89.0					14																	55836491		2203	4300	6503	SO:0001583	missense	22863				autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding	g.chr14:55836491C>T	AB020638	CCDS32087.1	14q22.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000126775	ENSG00000126775			19962	protein-coding gene	gene with protein product	"""Barkor"", ""beclin 1-associated autophagy-related key regulator"""	613515	"""KIAA0831"", ""ATG14 autophagy related 14 homolog (S. cerevisiae)"""	KIAA0831		18843052	Standard	NM_014924		Approved	ATG14L	uc001xbx.2	Q6ZNE5	OTTHUMG00000172129	ENST00000247178.5:c.1325G>A	14.37:g.55836491C>T	ENSP00000247178:p.Arg442Gln					FBXO34_uc001xbv.2_Intron|KIAA0831_uc001xbw.1_Missense_Mutation_p.R329Q	p.R442Q	NM_014924	NP_055739	Q6ZNE5	BAKOR_HUMAN			10	1361	-			442					A6NJE4|A8K9U5|B7ZWP5|O94920|Q32MK7|Q32MK8	Missense_Mutation	SNP	ENST00000247178.5	37	c.1325G>A	CCDS32087.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.675663	0.67928	.	.	ENSG00000126775	ENST00000247178	T	0.30448	1.53	5.12	5.12	0.69794	.	0.058435	0.64402	D	0.000003	T	0.18800	0.0451	N	0.25647	0.755	0.58432	D	0.999992	D	0.54772	0.968	B	0.37144	0.242	T	0.01956	-1.1240	10	0.33940	T	0.23	-9.8627	12.1262	0.53919	0.0:0.9222:0.0:0.0778	.	442	Q6ZNE5	BAKOR_HUMAN	Q	442	ENSP00000247178:R442Q	ENSP00000247178:R442Q	R	-	2	0	ATG14	54906244	1.000000	0.71417	0.917000	0.36280	0.833000	0.47200	5.910000	0.69931	2.649000	0.89929	0.555000	0.69702	CGG		0.587	ATG14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416992.1		NM_014924		16	43	0	0	0	0.132662	0	16	43		
SPTB	6710	broad.mit.edu	37	14	65259855	65259855	+	Silent	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr14:65259855C>T	ENST00000389721.5	-	13	2558	c.2526G>A	c.(2524-2526)caG>caA	p.Q842Q	SPTB_ENST00000556626.1_Silent_p.Q842Q|SPTB_ENST00000542895.1_Silent_p.Q842Q|SPTB_ENST00000389720.3_Silent_p.Q842Q|SPTB_ENST00000389722.3_Silent_p.Q842Q	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	842					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCTGCAGCCTCTGCTGACGCA	0.627																																						uc001xht.2		NaN																	0				ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11						c.(2524-2526)CAG>CAA		spectrin beta isoform b							51.0	46.0	48.0					14																	65259855		2203	4300	6503	SO:0001819	synonymous_variant	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65259855C>T		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.2526G>A	14.37:g.65259855C>T						SPTB_uc001xhr.2_Silent_p.Q842Q|SPTB_uc001xhs.2_Silent_p.Q842Q|SPTB_uc001xhu.2_Silent_p.Q842Q	p.Q842Q	NM_000347	NP_000338	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	13	2580	-		all_lung(585;4.15e-09)	842			Spectrin 6.		Q15510|Q15519	Silent	SNP	ENST00000389721.5	37	c.2526G>A	CCDS32100.1																																																																																				0.627	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1				13	50	0	0	0	0.105934	0	13	50		
TTLL5	23093	broad.mit.edu	37	14	76186104	76186104	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr14:76186104A>G	ENST00000298832.9	+	11	1074	c.869A>G	c.(868-870)tAt>tGt	p.Y290C	TTLL5_ENST00000555422.1_Intron|TTLL5_ENST00000557636.1_Missense_Mutation_p.Y290C	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	290	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		GTGGAGGATTATGGAAACAAA	0.388																																						uc001xrx.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(868-870)TAT>TGT		tubulin tyrosine ligase-like family, member 5							177.0	159.0	165.0					14																	76186104		2203	4300	6503	SO:0001583	missense	23093				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	g.chr14:76186104A>G	AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.869A>G	14.37:g.76186104A>G	ENSP00000298832:p.Tyr290Cys					TTLL5_uc010ask.1_Missense_Mutation_p.Y290C|TTLL5_uc001xry.1_Intron	p.Y290C	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	11	1074	+			290			TTL.		B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Missense_Mutation	SNP	ENST00000298832.9	37	c.869A>G	CCDS32124.1	.	.	.	.	.	.	.	.	.	.	A	19.83	3.900691	0.72754	.	.	ENSG00000119685	ENST00000557636;ENST00000298832	T;T	0.05382	3.45;3.45	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.23846	0.0577	M	0.68952	2.095	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79784	0.987;0.993	T	0.00175	-1.1955	10	0.56958	D	0.05	.	15.9097	0.79463	1.0:0.0:0.0:0.0	.	290;290	G3V2J9;Q6EMB2	.;TTLL5_HUMAN	C	290	ENSP00000450713:Y290C;ENSP00000298832:Y290C	ENSP00000298832:Y290C	Y	+	2	0	TTLL5	75255857	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.102000	0.77005	2.291000	0.77112	0.533000	0.62120	TAT		0.388	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1		NM_015072		2	23	0	0	0	0.115264	0	2	23		
HERC2	8924	broad.mit.edu	37	15	28467317	28467317	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr15:28467317G>C	ENST00000261609.7	-	36	5617	c.5509C>G	c.(5509-5511)Caa>Gaa	p.Q1837E		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GAAGCACCTTGAGCAGAAGCA	0.493																																						uc001zbj.2		NaN																	0				ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(5509-5511)CAA>GAA		hect domain and RLD 2							30.0	28.0	28.0					15																	28467317		1890	3547	5437	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28467317G>C	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.5509C>G	15.37:g.28467317G>C	ENSP00000261609:p.Gln1837Glu						p.Q1837E	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	36	5615	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	1837						Missense_Mutation	SNP	ENST00000261609.7	37	c.5509C>G	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.035864	0.00406	.	.	ENSG00000128731	ENST00000261609	T	0.36520	1.25	4.38	3.43	0.39272	.	0.843187	0.10516	N	0.665537	T	0.19685	0.0473	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.12863	-1.0531	10	0.02654	T	1	.	11.6937	0.51532	0.0:0.0:0.6783:0.3216	.	1837	O95714	HERC2_HUMAN	E	1837	ENSP00000261609:Q1837E	ENSP00000261609:Q1837E	Q	-	1	0	HERC2	26140912	0.995000	0.38212	0.408000	0.26446	0.046000	0.14306	4.209000	0.58493	1.131000	0.42111	0.650000	0.86243	CAA		0.493	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2		NM_004667		8	26	0	0	0	0.080935	0	8	26		
CASC5	57082	broad.mit.edu	37	15	40914878	40914878	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr15:40914878G>C	ENST00000346991.5	+	11	2884	c.2494G>C	c.(2494-2496)Gaa>Caa	p.E832Q	CASC5_ENST00000399668.2_Missense_Mutation_p.E806Q|CASC5_ENST00000527044.1_3'UTR			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	832					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)		TGTAAAAGTTGAAAAATGTGG	0.358																																						uc010bbs.1		NaN																	0				breast(3)|central_nervous_system(1)|skin(1)	5						c.(2494-2496)GAA>CAA		cancer susceptibility candidate 5 isoform 1							63.0	56.0	58.0					15																	40914878		1811	4078	5889	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.chr15:40914878G>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.2494G>C	15.37:g.40914878G>C	ENSP00000335463:p.Glu832Gln					CASC5_uc010ucq.1_Missense_Mutation_p.E656Q|CASC5_uc001zme.2_Missense_Mutation_p.E806Q|CASC5_uc010bbt.1_Missense_Mutation_p.E806Q	p.E832Q	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	2655	+		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)	832					Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	c.2494G>C	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.656785	0.29425	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	T;T	0.06218	3.33;3.33	4.2	2.3	0.28687	.	0.800421	0.10903	N	0.621400	T	0.10723	0.0262	L	0.54323	1.7	0.09310	N	1	P;P;P	0.48016	0.904;0.904;0.904	P;P;P	0.47573	0.463;0.55;0.55	T	0.20438	-1.0275	10	0.54805	T	0.06	.	8.4033	0.32599	0.2661:0.0:0.7339:0.0	.	806;832;806	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	Q	832;806;806	ENSP00000335463:E832Q;ENSP00000382576:E806Q	ENSP00000260369:E806Q	E	+	1	0	CASC5	38702170	0.032000	0.19561	0.682000	0.30024	0.028000	0.11728	0.497000	0.22514	0.419000	0.25927	0.557000	0.71058	GAA		0.358	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2		NM_144508		6	17	0	0	0	0.02938	0	6	17		
DENND4A	10260	broad.mit.edu	37	15	65988761	65988761	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr15:65988761C>T	ENST00000431932.2	-	21	3101	c.2893G>A	c.(2893-2895)Gtt>Att	p.V965I	snoU13_ENST00000459325.1_RNA|DENND4A_ENST00000443035.3_Missense_Mutation_p.V1008I	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	965					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						GTGAGGCGAACGATACTGGAA	0.383																																						uc002aph.2		NaN																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(2893-2895)GTT>ATT		DENN/MADD domain containing 4A isoform 2							167.0	165.0	165.0					15																	65988761		1886	4115	6001	SO:0001583	missense	10260				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr15:65988761C>T	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.2893G>A	15.37:g.65988761C>T	ENSP00000396830:p.Val965Ile					DENND4A_uc002api.2_Missense_Mutation_p.V1008I|DENND4A_uc002apj.3_Missense_Mutation_p.V965I	p.V965I	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN			21	3271	-			965					E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	37	c.2893G>A	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.443743	0.43429	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.10099	2.91;3.08	5.7	5.7	0.88788	.	3.491770	0.00575	N	0.000305	T	0.40423	0.1116	M	0.65975	2.015	0.80722	D	1	D;D	0.69078	0.962;0.997	B;D	0.68621	0.231;0.959	T	0.00797	-1.1562	10	0.62326	D	0.03	.	18.0168	0.89243	0.0:1.0:0.0:0.0	.	1008;965	E7EPL3;Q7Z401	.;MYCPP_HUMAN	I	1008;965	ENSP00000391167:V1008I;ENSP00000396830:V965I	ENSP00000396830:V965I	V	-	1	0	DENND4A	63775815	1.000000	0.71417	1.000000	0.80357	0.025000	0.11179	5.495000	0.66912	2.690000	0.91761	0.563000	0.77884	GTT		0.383	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1		NM_005848		5	26	0	0	0	0.021553	0	5	26		
NOXO1	124056	broad.mit.edu	37	16	2029466	2029466	+	Missense_Mutation	SNP	G	G	T	rs371978748		TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr16:2029466G>T	ENST00000397280.4	-	7	796	c.793C>A	c.(793-795)Cgc>Agc	p.R265S	NOXO1_ENST00000354249.4_Missense_Mutation_p.R259S|AC005606.1_ENST00000598236.1_5'Flank|NOXO1_ENST00000356120.4_Missense_Mutation_p.R260S|TBL3_ENST00000568546.1_3'UTR|NOXO1_ENST00000566005.1_Missense_Mutation_p.R264S			Q8NFA2	NOXO1_HUMAN	NADPH oxidase organizer 1	265	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				extracellular matrix disassembly (GO:0022617)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|superoxide metabolic process (GO:0006801)	NADPH oxidase complex (GO:0043020)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|phospholipid binding (GO:0005543)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			lung(2)	2					Ecabet(DB05265)	TCCAACACGCGCACGCGCGCC	0.706																																					Pancreas(104;2811 2841 4129)|Esophageal Squamous(25;910 1225 43728)	uc002cnx.2		NaN																	0					0						c.(793-795)CGC>AGC		NADPH oxidase organizer 1 isoform c							15.0	18.0	17.0					16																	2029466		2170	4254	6424	SO:0001583	missense	124056				cell communication|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst	NADPH oxidase complex	enzyme binding|phosphatidylinositol binding|superoxide-generating NADPH oxidase activator activity	g.chr16:2029466G>T	AF532985	CCDS10454.1, CCDS10455.1, CCDS42101.1, CCDS58406.1	16p13.3	2008-02-05			ENSG00000196408	ENSG00000196408			19404	protein-coding gene	gene with protein product		611256					Standard	NM_144603		Approved	P41NOXA, P41NOXB, P41NOXC, SH3PXD5, SNX28	uc002cnx.4	Q8NFA2	OTTHUMG00000128707	ENST00000397280.4:c.793C>A	16.37:g.2029466G>T	ENSP00000380450:p.Arg265Ser					NOXO1_uc002cnz.2_Missense_Mutation_p.R259S|NOXO1_uc002coa.2_Missense_Mutation_p.R264S|NOXO1_uc002cny.2_Missense_Mutation_p.R260S	p.R265S	NM_172168	NP_751908	Q8NFA2	NOXO1_HUMAN			7	797	-			265			SH3 2.		Q86YM1|Q8NFA3|Q96B73	Missense_Mutation	SNP	ENST00000397280.4	37	c.793C>A	CCDS42101.1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.105882	0.37145	.	.	ENSG00000196408	ENST00000354249;ENST00000356120;ENST00000397280	T;T;T	0.48201	0.82;0.82;0.82	5.1	-4.14	0.03892	Src homology-3 domain (4);	0.972000	0.08521	N	0.933398	T	0.20373	0.0490	N	0.10707	0.03	0.09310	N	1	B;B;B;B	0.13145	0.001;0.006;0.006;0.007	B;B;B;B	0.17098	0.01;0.013;0.013;0.017	T	0.16305	-1.0407	10	0.38643	T	0.18	-1.2825	1.5985	0.02669	0.1616:0.3606:0.1666:0.3112	.	264;259;260;265	Q8NFA2-2;Q8NFA2-4;Q8NFA2-3;Q8NFA2	.;.;.;NOXO1_HUMAN	S	259;260;265	ENSP00000346195:R259S;ENSP00000348435:R260S;ENSP00000380450:R265S	ENSP00000346195:R259S	R	-	1	0	NOXO1	1969467	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.424000	0.07025	-0.330000	0.08514	-0.314000	0.08810	CGC		0.706	NOXO1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250612.1				6	28	1	0	2.0095e-06	0.02938	2.19789e-06	6	28		
CD19	930	broad.mit.edu	37	16	28948412	28948412	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr16:28948412G>A	ENST00000324662.3	+	8	1197	c.1153G>A	c.(1153-1155)Gtc>Atc	p.V385I	CD19_ENST00000538922.1_Missense_Mutation_p.V385I|CD19_ENST00000567541.1_Missense_Mutation_p.V385I			P15391	CD19_HUMAN	CD19 molecule	385					B cell receptor signaling pathway (GO:0050853)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						GAGCAGCGACGTCCAGGCGGA	0.682																																						uc002drs.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1153-1155)GTC>ATC		CD19 antigen precursor							18.0	19.0	19.0					16																	28948412		2189	4292	6481	SO:0001583	missense	930				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity	g.chr16:28948412G>A		CCDS10644.1, CCDS53998.1	16p11.2	2014-09-17	2006-03-28		ENSG00000177455	ENSG00000177455		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1633	protein-coding gene	gene with protein product		107265	"""CD19 antigen"""				Standard	NM_001770		Approved		uc010byo.2	P15391	OTTHUMG00000097049	ENST00000324662.3:c.1153G>A	16.37:g.28948412G>A	ENSP00000313419:p.Val385Ile					uc010vct.1_Intron|CD19_uc010byo.1_Missense_Mutation_p.V385I	p.V385I	NM_001770	NP_001761	P15391	CD19_HUMAN			8	1215	+			385			Cytoplasmic (Potential).		A0N0P9|F5H635|Q96S68|Q9BRD6	Missense_Mutation	SNP	ENST00000324662.3	37	c.1153G>A	CCDS10644.1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.868376	0.32977	.	.	ENSG00000177455	ENST00000538922;ENST00000380673;ENST00000324662;ENST00000537306	T;T	0.41758	0.99;0.99	4.27	0.845	0.18950	.	0.745082	0.11463	N	0.561523	T	0.23370	0.0565	L	0.27053	0.805	0.09310	N	1	B;B	0.31318	0.319;0.213	B;B	0.17433	0.018;0.008	T	0.15122	-1.0448	10	0.62326	D	0.03	-1.5455	3.983	0.09503	0.2146:0.0:0.5672:0.2182	.	385;385	F5H635;P15391	.;CD19_HUMAN	I	385;192;385;234	ENSP00000437940:V385I;ENSP00000313419:V385I	ENSP00000313419:V385I	V	+	1	0	CD19	28855913	0.033000	0.19621	0.002000	0.10522	0.172000	0.22775	0.665000	0.25083	0.096000	0.17463	0.462000	0.41574	GTC		0.682	CD19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214152.2				4	17	0	0	0	0.014758	0	4	17		
CX3CL1	6376	broad.mit.edu	37	16	57416628	57416628	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr16:57416628C>T	ENST00000006053.6	+	3	989	c.878C>T	c.(877-879)tCa>tTa	p.S293L	CX3CL1_ENST00000565912.1_Missense_Mutation_p.S255L|CX3CL1_ENST00000563383.1_Missense_Mutation_p.S299L	NM_002996.3	NP_002987.1	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	293	Mucin-like stalk.				angiogenesis involved in wound healing (GO:0060055)|cell adhesion (GO:0007155)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|immune response (GO:0006955)|leukocyte adhesive activation (GO:0050902)|leukocyte chemotaxis (GO:0030595)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcium-independent cell-cell adhesion (GO:0051041)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transforming growth factor beta1 production (GO:0032914)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chemokine activity (GO:0008009)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						CCTGTCTCCTCAGAAGGGACC	0.672																																						uc002eli.2		NaN																	0					0						c.(877-879)TCA>TTA		chemokine (C-X3-C motif) ligand 1 precursor							39.0	43.0	42.0					16																	57416628		2197	4299	6496	SO:0001583	missense	6376				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity	g.chr16:57416628C>T	U84487	CCDS10779.1	16q13	2013-02-25	2002-08-22	2002-08-23	ENSG00000006210	ENSG00000006210		"""Endogenous ligands"""	10647	protein-coding gene	gene with protein product		601880	"""small inducible cytokine subfamily D (Cys-X3-Cys), member 1 (fractalkine, neurotactin)"""	SCYD1		9177350, 9024663	Standard	NM_002996		Approved	NTN, C3Xkine, ABCD-3, CXC3C, CXC3, fractalkine, neurotactin	uc002eli.3	P78423	OTTHUMG00000133469	ENST00000006053.6:c.878C>T	16.37:g.57416628C>T	ENSP00000006053:p.Ser293Leu						p.S293L	NM_002996	NP_002987	P78423	X3CL1_HUMAN			3	945	+			293			Mucin-like stalk.|Extracellular (Potential).		O00672	Missense_Mutation	SNP	ENST00000006053.6	37	c.878C>T	CCDS10779.1	.	.	.	.	.	.	.	.	.	.	C	14.36	2.513287	0.44660	.	.	ENSG00000006210	ENST00000006053	T	0.05649	3.41	4.48	3.52	0.40303	.	2.822950	0.01557	N	0.019956	T	0.08582	0.0213	L	0.34521	1.04	0.24140	N	0.995738	P	0.37061	0.58	B	0.37601	0.254	T	0.34153	-0.9840	10	0.87932	D	0	-14.2898	8.5813	0.33630	0.0:0.8942:0.0:0.1058	.	293	P78423	X3CL1_HUMAN	L	293	ENSP00000006053:S293L	ENSP00000006053:S293L	S	+	2	0	CX3CL1	55974129	0.543000	0.26434	0.168000	0.22838	0.006000	0.05464	2.005000	0.40864	1.092000	0.41356	0.558000	0.71614	TCA		0.672	CX3CL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257345.3		NM_002996		19	55	0	0	0	0.043863	0	19	55		
ADAMTS18	170692	broad.mit.edu	37	16	77465414	77465414	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr16:77465414C>G	ENST00000282849.5	-	3	691	c.273G>C	c.(271-273)caG>caC	p.Q91H	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	91					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						TTCTGGCATTCTGCGCCGATC	0.478																																						uc002ffc.3		NaN																	0				large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						c.(271-273)CAG>CAC		ADAM metallopeptidase with thrombospondin type 1							190.0	194.0	193.0					16																	77465414		2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77465414C>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.273G>C	16.37:g.77465414C>G	ENSP00000282849:p.Gln91His					ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_RNA	p.Q91H	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN			3	692	-			91					Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.273G>C	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	C	8.654	0.899009	0.17686	.	.	ENSG00000140873	ENST00000282849;ENST00000449265	T;T	0.06687	3.27;3.27	5.38	4.41	0.53225	Peptidase M12B, propeptide (1);	0.791572	0.11954	N	0.513428	T	0.04272	0.0118	N	0.03948	-0.315	0.21527	N	0.999656	B	0.02656	0.0	B	0.10450	0.005	T	0.39542	-0.9609	10	0.37606	T	0.19	.	8.7936	0.34866	0.0:0.6223:0.2994:0.0782	.	91	Q8TE60	ATS18_HUMAN	H	91	ENSP00000282849:Q91H;ENSP00000392540:Q91H	ENSP00000282849:Q91H	Q	-	3	2	ADAMTS18	76022915	0.330000	0.24705	0.447000	0.26932	0.569000	0.35902	0.627000	0.24506	1.246000	0.43901	0.586000	0.80456	CAG		0.478	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1				59	160	0	0	0	0.139131	0	59	160		
SLFN13	146857	broad.mit.edu	37	17	33769076	33769076	+	Silent	SNP	G	G	C			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr17:33769076G>C	ENST00000285013.6	-	5	1703	c.1428C>G	c.(1426-1428)ctC>ctG	p.L476L	SLFN13_ENST00000533791.1_Silent_p.L476L|SLFN13_ENST00000360502.2_Silent_p.L158L|SLFN13_ENST00000534689.1_Silent_p.L158L|SLFN13_ENST00000542635.1_Silent_p.L476L|SLFN13_ENST00000526861.1_Silent_p.L476L	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	476						intracellular (GO:0005622)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CCTGCTCCCTGAGAATGGTGT	0.557																																						uc002hjk.1		NaN																	0				ovary(1)|breast(1)	2						c.(1426-1428)CTC>CTG		schlafen family member 13							146.0	125.0	132.0					17																	33769076		2203	4300	6503	SO:0001819	synonymous_variant	146857					intracellular	ATP binding	g.chr17:33769076G>C	AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.1428C>G	17.37:g.33769076G>C						SLFN13_uc010wch.1_Silent_p.L476L|SLFN13_uc002hjl.2_Silent_p.L476L|SLFN13_uc010ctt.2_Silent_p.L158L|SLFN13_uc002hjm.2_Silent_p.L145L	p.L476L	NM_144682	NP_653283	Q68D06	SLN13_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	3	1758	-			476					E1P645|Q658M1|Q6ZS51|Q96A81	Silent	SNP	ENST00000285013.6	37	c.1428C>G	CCDS32620.1																																																																																				0.557	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381883.1		NM_144682		14	100	0	0	0	0.132662	0	14	100		
UBTF	7343	broad.mit.edu	37	17	42286824	42286824	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr17:42286824C>T	ENST00000302904.4	-	17	2293	c.1801G>A	c.(1801-1803)Ggc>Agc	p.G601S	UBTF_ENST00000436088.1_Missense_Mutation_p.G601S|UBTF_ENST00000529383.1_Missense_Mutation_p.G601S|UBTF_ENST00000393606.3_Missense_Mutation_p.G564S|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000343638.5_Missense_Mutation_p.G564S|UBTF_ENST00000526094.1_Missense_Mutation_p.G564S|UBTF_ENST00000533177.1_Missense_Mutation_p.G564S|UBTF_ENST00000527034.1_Missense_Mutation_p.G564S			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	601					chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CAGCGACTGCCGATCTCCACC	0.597																																						uc002igb.2		NaN																	0					0						c.(1801-1803)GGC>AGC		upstream binding transcription factor, RNA							67.0	58.0	61.0					17																	42286824		2203	4300	6503	SO:0001583	missense	7343				positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding	g.chr17:42286824C>T	BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.1801G>A	17.37:g.42286824C>T	ENSP00000302640:p.Gly601Ser					UBTF_uc002igc.2_Missense_Mutation_p.G564S|UBTF_uc010czs.2_Missense_Mutation_p.G601S|UBTF_uc002igd.2_Missense_Mutation_p.G564S|UBTF_uc010czt.2_Missense_Mutation_p.G601S|UBTF_uc002ige.2_Missense_Mutation_p.G564S	p.G601S	NM_014233	NP_055048	P17480	UBF1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	16	1868	-		Breast(137;0.00765)|Prostate(33;0.0181)	601			HMG box 6.		A8K6R8	Missense_Mutation	SNP	ENST00000302904.4	37	c.1801G>A	CCDS11480.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.785334	0.49997	.	.	ENSG00000108312	ENST00000343638;ENST00000302904;ENST00000527034;ENST00000533177;ENST00000436088;ENST00000393606;ENST00000526094;ENST00000529383;ENST00000529373	T;T;T;T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79	5.16	4.16	0.48862	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (3);	0.000000	0.85682	D	0.000000	T	0.53899	0.1825	L	0.28694	0.88	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.972;1.0	T	0.43228	-0.9404	10	0.17369	T	0.5	-21.1328	15.4026	0.74852	0.0:0.8608:0.1391:0.0	.	564;564;601	E9PKP7;P17480-2;P17480	.;.;UBF1_HUMAN	S	564;601;564;564;601;564;564;601;188	ENSP00000345297:G564S;ENSP00000302640:G601S;ENSP00000431539:G564S;ENSP00000437180:G564S;ENSP00000390669:G601S;ENSP00000377231:G564S;ENSP00000432925:G564S;ENSP00000435708:G601S;ENSP00000431295:G188S	ENSP00000302640:G601S	G	-	1	0	UBTF	39642350	1.000000	0.71417	0.971000	0.41717	0.321000	0.28281	5.873000	0.69644	2.409000	0.81822	0.462000	0.41574	GGC		0.597	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395205.1		NM_014233		11	46	0	0	0	0.080935	0	11	46		
CBX1	10951	broad.mit.edu	37	17	46154251	46154251	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr17:46154251A>G	ENST00000393408.3	-	2	596	c.116T>C	c.(115-117)cTc>cCc	p.L39P	CBX1_ENST00000225603.4_Missense_Mutation_p.L39P|CBX1_ENST00000495350.1_Missense_Mutation_p.L39P	NM_006807.4	NP_006798.1	P83916	CBX1_HUMAN	chromobox homolog 1	39	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				negative regulation of transcription, DNA-templated (GO:0045892)	chromatin (GO:0000785)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|pericentric heterochromatin (GO:0005721)|spindle (GO:0005819)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone methyltransferase binding (GO:1990226)			breast(1)|central_nervous_system(1)|kidney(1)|prostate(1)	4						CCACTTTAGGAGGTACTCCAC	0.463																																					NSCLC(136;694 2497 38792 39034)	uc002ind.3		NaN																	0					0						c.(115-117)CTC>CCC		heterochromatin protein 1-beta							282.0	232.0	249.0					17																	46154251		2203	4300	6503	SO:0001583	missense	10951					nuclear heterochromatin|nucleoplasm|spindle	chromatin binding|enzyme binding	g.chr17:46154251A>G	U35451	CCDS11525.1	17q21.32	2010-07-06	2010-06-24		ENSG00000108468	ENSG00000108468			1551	protein-coding gene	gene with protein product	"""HP1 beta homolog (Drosophila )"""	604511	"""chromobox homolog 1 (Drosophila HP1 beta)"""			9169582	Standard	NM_001127228		Approved	HP1Hs-beta, M31, MOD1, CBX, HP1-BETA	uc002ind.4	P83916	OTTHUMG00000150417	ENST00000393408.3:c.116T>C	17.37:g.46154251A>G	ENSP00000377060:p.Leu39Pro					CBX1_uc002ine.3_Missense_Mutation_p.L39P	p.L39P	NM_006807	NP_006798	P83916	CBX1_HUMAN			2	597	-			39			Chromo 1.		P23197	Missense_Mutation	SNP	ENST00000393408.3	37	c.116T>C	CCDS11525.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.600502	0.87055	.	.	ENSG00000108468	ENST00000225603;ENST00000393408;ENST00000402583;ENST00000444685	D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79	5.74	5.74	0.90152	Chromo domain (1);Chromo domain subgroup (1);Chromo domain-like (1);Chromo domain/shadow (2);Chromo domain, conserved site (1);	0.000000	0.64402	U	0.000008	D	0.94218	0.8144	H	0.98388	4.22	0.80722	D	1	D	0.63046	0.992	D	0.64144	0.922	D	0.95901	0.8915	10	0.56958	D	0.05	-11.6346	15.0103	0.71545	1.0:0.0:0.0:0.0	.	39	P83916	CBX1_HUMAN	P	39	ENSP00000225603:L39P;ENSP00000377060:L39P;ENSP00000385413:L39P;ENSP00000393179:L39P	ENSP00000225603:L39P	L	-	2	0	CBX1	43509250	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	9.307000	0.96226	2.187000	0.69744	0.533000	0.62120	CTC		0.463	CBX1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318016.1		NM_006807		3	146	0	0	0	0.009096	0	3	146		
CARD14	79092	broad.mit.edu	37	17	78166304	78166304	+	Silent	SNP	C	C	G			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr17:78166304C>G	ENST00000573882.1	+	11	1778	c.1242C>G	c.(1240-1242)ctC>ctG	p.L414L	CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000570421.1_Silent_p.L414L|CARD14_ENST00000392434.2_Silent_p.L177L|CARD14_ENST00000344227.2_Silent_p.L414L			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	414					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TTTGGCAGCTCAAGCAGGAAG	0.612																																						uc002jxw.1		NaN																	0				ovary(4)|skin(1)	5						c.(1240-1242)CTC>CTG		caspase recruitment domain protein 14 isoform 1							57.0	58.0	58.0					17																	78166304		2203	4299	6502	SO:0001819	synonymous_variant	79092				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding	g.chr17:78166304C>G	AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"""psoriasis susceptibility 2"""	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.1242C>G	17.37:g.78166304C>G						CARD14_uc002jxt.1_RNA|CARD14_uc002jxv.2_Silent_p.L414L|CARD14_uc010wud.1_RNA|CARD14_uc002jxx.2_Silent_p.L177L|CARD14_uc010dhu.1_Silent_p.L212L	p.L414L	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		9	1437	+	all_neural(118;0.0952)		414					B8QQJ3|Q9BVB5	Silent	SNP	ENST00000573882.1	37	c.1242C>G	CCDS11768.1																																																																																				0.612	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437507.1				19	59	0	0	0	0.049695	0	19	59		
TCEB3B	51224	broad.mit.edu	37	18	44561319	44561319	+	Missense_Mutation	SNP	T	T	C	rs146911955|rs386802916	byFrequency	TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr18:44561319T>C	ENST00000332567.4	-	1	669	c.317A>G	c.(316-318)cAg>cGg	p.Q106R	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	106					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.Q106R(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGCCTTTTCCTGGTCCTGAAG	0.652													C|||	26	0.00519169	0.0015	0.0043	5008	,	,		14505	0.004		0.008	False		,,,				2504	0.0092					uc002lcr.1		NaN																	1	Substitution - Missense(1)		cervix(1)	ovary(2)|large_intestine(1)|pancreas(1)	4						c.(316-318)CAG>CGG		elongin A2		C	ARG/GLN,	7,4393		0,7,2193	45.0	52.0	49.0		317,	-3.1	0.0	18	dbSNP_134	49	22,8572		0,22,4275	no	missense,intron	TCEB3B,KATNAL2	NM_016427.2,NM_031303.2	43,	0,29,6468	CC,CT,TT		0.256,0.1591,0.2232	benign,	106/754,	44561319	29,12965	2200	4297	6497	SO:0001583	missense	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44561319T>C	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.317A>G	18.37:g.44561319T>C	ENSP00000331302:p.Gln106Arg					KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	p.Q106R	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN			1	670	-			106					Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	c.317A>G	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	C	6.352	0.433123	0.12045	0.001591	0.00256	ENSG00000206181	ENST00000332567	T	0.07444	3.19	2.28	-3.13	0.05266	.	12.396300	0.00508	N	0.000161	T	0.05960	0.0155	N	0.16478	0.41	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.36432	-0.9748	10	0.25106	T	0.35	-1.7422	8.6283	0.33904	0.0:0.5243:0.0:0.4757	.	106	Q8IYF1	ELOA2_HUMAN	R	106	ENSP00000331302:Q106R	ENSP00000331302:Q106R	Q	-	2	0	TCEB3B	42815317	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.321000	0.08018	-1.301000	0.02338	-1.425000	0.01104	CAG		0.652	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1		NM_016427		11	74	0	0	0	0.069234	0	11	74		
TCEB3B	51224	broad.mit.edu	37	18	44561321	44561321	+	Missense_Mutation	SNP	G	G	C	rs138936821|rs386802916	byFrequency	TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr18:44561321G>C	ENST00000332567.4	-	1	667	c.315C>G	c.(313-315)gaC>gaG	p.D105E	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	105					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D105E(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCTTTTCCTGGTCCTGAAGAG	0.662													G|||	22	0.00439297	0.0015	0.0029	5008	,	,		14508	0.001		0.008	False		,,,				2504	0.0092					uc002lcr.1		NaN																	1	Substitution - Missense(1)		cervix(1)	ovary(2)|large_intestine(1)|pancreas(1)	4						c.(313-315)GAC>GAG		elongin A2		G	GLU/ASP,	6,4394		0,6,2194	45.0	51.0	49.0		315,	-4.9	0.0	18	dbSNP_134	49	15,8579		0,15,4282	no	missense,intron	TCEB3B,KATNAL2	NM_016427.2,NM_031303.2	45,	0,21,6476	CC,CG,GG		0.1745,0.1364,0.1616	benign,	105/754,	44561321	21,12973	2200	4297	6497	SO:0001583	missense	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44561321G>C	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.315C>G	18.37:g.44561321G>C	ENSP00000331302:p.Asp105Glu					KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	p.D105E	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN			1	668	-			105					Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	c.315C>G	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	G	2.054	-0.417095	0.04766	0.001364	0.001745	ENSG00000206181	ENST00000332567	T	0.06449	3.3	2.46	-4.92	0.03075	.	0.857574	0.09467	N	0.798210	T	0.02047	0.0064	N	0.04959	-0.14	0.09310	N	1	B	0.22080	0.064	B	0.26310	0.068	T	0.37407	-0.9707	10	0.02654	T	1	0.6963	2.5809	0.04818	0.1066:0.3716:0.1472:0.3745	.	105	Q8IYF1	ELOA2_HUMAN	E	105	ENSP00000331302:D105E	ENSP00000331302:D105E	D	-	3	2	TCEB3B	42815319	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.447000	0.06828	-2.660000	0.00419	-0.311000	0.09066	GAC		0.662	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1		NM_016427		10	71	0	0	0	0.058154	0	10	71		
MPND	84954	broad.mit.edu	37	19	4357557	4357557	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr19:4357557C>G	ENST00000262966.8	+	10	1278	c.1211C>G	c.(1210-1212)cCt>cGt	p.P404R	MPND_ENST00000359935.4_Missense_Mutation_p.P354R|AC007292.3_ENST00000593524.1_RNA|MPND_ENST00000599840.1_Missense_Mutation_p.P404R	NM_032868.4	NP_116257.2	Q8N594	MPND_HUMAN	MPN domain containing	404							peptidase activity (GO:0008233)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGATCTCACCTTTCTGGGTG	0.672																																						uc002mae.2		NaN																	0				breast(1)	1						c.(1210-1212)CCT>CGT		MPN domain containing isoform 1							35.0	36.0	35.0					19																	4357557		1852	4089	5941	SO:0001583	missense	84954						peptidase activity	g.chr19:4357557C>G		CCDS42470.1, CCDS54200.1, CCDS74261.1	19p13.3	2014-08-12			ENSG00000008382				25934	protein-coding gene	gene with protein product							Standard	XM_005259663		Approved	FLJ14981	uc002mae.3	Q8N594	OTTHUMG00000181914	ENST00000262966.8:c.1211C>G	19.37:g.4357557C>G	ENSP00000262966:p.Pro404Arg					MPND_uc010dtx.2_RNA|MPND_uc002mag.2_Missense_Mutation_p.P354R|MPND_uc002maf.2_Missense_Mutation_p.P404R|MPND_uc002mah.2_Missense_Mutation_p.P292R|MPND_uc002mai.2_Missense_Mutation_p.P263R	p.P404R	NM_032868	NP_116257	Q8N594	MPND_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	10	1278	+			404					Q96SJ0|Q9Y2P1|Q9Y2P2	Missense_Mutation	SNP	ENST00000262966.8	37	c.1211C>G	CCDS42470.1	.	.	.	.	.	.	.	.	.	.	c	12.97	2.096530	0.36952	.	.	ENSG00000008382	ENST00000262966;ENST00000359935	.	.	.	4.58	4.58	0.56647	.	0.000000	0.85682	U	0.000000	T	0.73590	0.3606	L	0.59436	1.845	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.76575	0.988;0.949;0.961	T	0.70400	-0.4882	9	0.23891	T	0.37	-16.3384	14.8389	0.70209	0.0:1.0:0.0:0.0	.	354;404;404	Q8N594-2;A6NI36;Q8N594	.;.;MPND_HUMAN	R	404;354	.	ENSP00000262966:P404R	P	+	2	0	MPND	4308557	0.996000	0.38824	0.091000	0.20842	0.208000	0.24298	4.783000	0.62403	2.087000	0.62958	0.467000	0.42956	CCT		0.672	MPND-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458292.1		NM_032868		7	26	0	0	0	0.09319	0	7	26		
CAMSAP3	57662	broad.mit.edu	37	19	7675446	7675446	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr19:7675446C>T	ENST00000160298.4	+	6	946	c.845C>T	c.(844-846)cCt>cTt	p.P282L	CAMSAP3_ENST00000446248.2_Missense_Mutation_p.P309L	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	282	CH.				epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						TCTCGCCTTCCTCGTGGCTGC	0.642																																						uc002mgv.3		NaN																	0				pancreas(1)	1						c.(844-846)CCT>CTT		NEZHA isoform 2							121.0	136.0	131.0					19																	7675446		2119	4222	6341	SO:0001583	missense	57662				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding	g.chr19:7675446C>T	AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 80"""	612685	"""KIAA1543"""	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.845C>T	19.37:g.7675446C>T	ENSP00000160298:p.Pro282Leu					KIAA1543_uc002mgu.3_Missense_Mutation_p.P309L	p.P282L	NM_020902	NP_065953	Q9P1Y5	CAMP3_HUMAN			6	946	+			282			CH.		Q8NDF1	Missense_Mutation	SNP	ENST00000160298.4	37	c.845C>T	CCDS42489.1	.	.	.	.	.	.	.	.	.	.	c	15.64	2.893935	0.52121	.	.	ENSG00000076826	ENST00000446248;ENST00000160298	T;T	0.14893	2.48;2.47	5.3	5.3	0.74995	Calponin homology domain (2);	0.199299	0.43416	D	0.000577	T	0.31670	0.0804	L	0.59436	1.845	0.41984	D	0.990813	D;P	0.54601	0.967;0.763	P;B	0.52710	0.707;0.173	T	0.02505	-1.1149	10	0.56958	D	0.05	-15.8821	17.7049	0.88306	0.0:1.0:0.0:0.0	.	282;309	Q9P1Y5;Q9P1Y5-2	CAMP3_HUMAN;.	L	309;282	ENSP00000416797:P309L;ENSP00000160298:P282L	ENSP00000160298:P282L	P	+	2	0	KIAA1543	7581446	0.197000	0.23362	0.767000	0.31495	0.227000	0.25037	4.361000	0.59461	2.468000	0.83385	0.643000	0.83706	CCT		0.642	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459300.1		XM_048362		63	164	0	0	0	0.139131	0	63	164		
ZNF91	7644	broad.mit.edu	37	19	23543307	23543307	+	Missense_Mutation	SNP	G	G	A	rs547841465	byFrequency	TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr19:23543307G>A	ENST00000300619.7	-	4	2679	c.2474C>T	c.(2473-2475)cCc>cTc	p.P825L	ZNF91_ENST00000596528.1_5'Flank|ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.P793L	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	825					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				ACATTTGTAGGGTTTCTCTCC	0.403													G|||	3	0.000599042	0.0	0.0	5008	,	,		20299	0.003		0.0	False		,,,				2504	0.0					uc002nre.2		NaN																	0					0						c.(2473-2475)CCC>CTC		zinc finger protein 91							61.0	64.0	63.0					19																	23543307		2161	4274	6435	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23543307G>A	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.2474C>T	19.37:g.23543307G>A	ENSP00000300619:p.Pro825Leu					ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Missense_Mutation_p.P793L	p.P825L	NM_003430	NP_003421	Q05481	ZNF91_HUMAN			4	2587	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	825					A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.2474C>T	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.757441	0.49468	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.17054	2.3;2.3	1.53	1.53	0.23141	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26991	0.0661	L	0.50847	1.595	0.47584	D	0.999466	P;D	0.59357	0.475;0.985	B;P	0.58013	0.217;0.831	T	0.03139	-1.1068	9	0.56958	D	0.05	.	9.9652	0.41721	0.0:0.0:1.0:0.0	.	793;825	Q05481-2;Q05481	.;ZNF91_HUMAN	L	825;793	ENSP00000300619:P825L;ENSP00000380272:P793L	ENSP00000300619:P825L	P	-	2	0	ZNF91	23335147	0.829000	0.29322	0.057000	0.19452	0.095000	0.18619	2.924000	0.48876	0.811000	0.34303	0.205000	0.17691	CCC		0.403	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1		NM_003430		11	52	0	0	0	0.080935	0	11	52		
POLR1A	25885	broad.mit.edu	37	2	86258591	86258591	+	Silent	SNP	C	C	G			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr2:86258591C>G	ENST00000263857.6	-	30	4818	c.4440G>C	c.(4438-4440)ctG>ctC	p.L1480L	POLR1A_ENST00000409681.1_Intron			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1480					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GGGGCTGCGTCAGGAGGGCGG	0.642																																						uc002sqs.2		NaN																	0				ovary(2)|skin(1)	3						c.(4438-4440)CTG>CTC		DNA-directed RNA polymerase I A							125.0	133.0	131.0					2																	86258591		2011	4147	6158	SO:0001819	synonymous_variant	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86258591C>G	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.4440G>C	2.37:g.86258591C>G						POLR1A_uc010ytb.1_Silent_p.L846L	p.L1480L	NM_015425	NP_056240	O95602	RPA1_HUMAN			30	4819	-			1480					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Silent	SNP	ENST00000263857.6	37	c.4440G>C	CCDS42706.1																																																																																				0.642	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2		NM_015425		36	111	0	0	0	0.086207	0	36	111		
POLR1A	25885	broad.mit.edu	37	2	86258707	86258707	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr2:86258707C>T	ENST00000263857.6	-	30	4702	c.4324G>A	c.(4324-4326)Gat>Aat	p.D1442N	POLR1A_ENST00000409681.1_Missense_Mutation_p.D1442N			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1442					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						atgtcttcatcgtcgttctcc	0.557																																						uc002sqs.2		NaN																	0				ovary(2)|skin(1)	3						c.(4324-4326)GAT>AAT		DNA-directed RNA polymerase I A							187.0	180.0	182.0					2																	86258707		2142	4227	6369	SO:0001583	missense	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86258707C>T	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.4324G>A	2.37:g.86258707C>T	ENSP00000263857:p.Asp1442Asn					POLR1A_uc010ytb.1_Missense_Mutation_p.D808N	p.D1442N	NM_015425	NP_056240	O95602	RPA1_HUMAN			30	4703	-			1442					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	c.4324G>A	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.068032	0.36470	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.68765	-0.35;2.98	4.68	1.83	0.25207	RNA polymerase Rpb1, domain 5 (1);	1.591780	0.03087	N	0.159218	T	0.55909	0.1950	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.35450	-0.9788	10	0.27785	T	0.31	-0.0685	8.6196	0.33853	0.0:0.6722:0.0:0.3278	.	1442	O95602	RPA1_HUMAN	N	1442	ENSP00000263857:D1442N;ENSP00000386300:D1442N	ENSP00000263857:D1442N	D	-	1	0	POLR1A	86112218	0.006000	0.16342	0.003000	0.11579	0.010000	0.07245	1.306000	0.33505	0.505000	0.28104	0.555000	0.69702	GAT		0.557	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2		NM_015425		17	53	0	0	0	0.038395	0	17	53		
POLR1A	25885	broad.mit.edu	37	2	86258743	86258743	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr2:86258743C>A	ENST00000263857.6	-	30	4666	c.4288G>T	c.(4288-4290)Gag>Tag	p.E1430*	POLR1A_ENST00000409681.1_Nonsense_Mutation_p.E1430*			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1430					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						tcctcttcctcACTCTCATAA	0.547																																						uc002sqs.2		NaN																	0				ovary(2)|skin(1)	3						c.(4288-4290)GAG>TAG		DNA-directed RNA polymerase I A							128.0	120.0	123.0					2																	86258743		2099	4192	6291	SO:0001587	stop_gained	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86258743C>A	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.4288G>T	2.37:g.86258743C>A	ENSP00000263857:p.Glu1430*					POLR1A_uc010ytb.1_Nonsense_Mutation_p.E796*	p.E1430*	NM_015425	NP_056240	O95602	RPA1_HUMAN			30	4667	-			1430					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Nonsense_Mutation	SNP	ENST00000263857.6	37	c.4288G>T	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	C	45	11.725777	0.99596	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	.	.	.	5.12	5.12	0.69794	.	0.500462	0.21041	N	0.081161	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-12.9419	18.538	0.91018	0.0:1.0:0.0:0.0	.	.	.	.	X	1430	.	ENSP00000263857:E1430X	E	-	1	0	POLR1A	86112254	0.998000	0.40836	0.948000	0.38648	0.683000	0.39861	5.394000	0.66285	2.539000	0.85634	0.561000	0.74099	GAG		0.547	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2		NM_015425		18	56	1	0	1.67942e-08	0.038395	1.8562e-08	18	56		
CDH26	60437	broad.mit.edu	37	20	58545166	58545166	+	Silent	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr20:58545166C>T	ENST00000244047.5	+	3	467	c.156C>T	c.(154-156)tcC>tcT	p.S52S	CDH26_ENST00000348616.4_Silent_p.S52S			Q8IXH8	CAD26_HUMAN	cadherin 26	52	Cadherin 1. {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)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			TACGGCGATCCAAGAGAAGAT	0.502																																						uc002ybe.2		NaN																	0				ovary(3)|central_nervous_system(1)	4						c.(154-156)TCC>TCT		cadherin-like 26 isoform a							130.0	117.0	122.0					20																	58545166		2203	4300	6503	SO:0001819	synonymous_variant	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58545166C>T	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.156C>T	20.37:g.58545166C>T						CDH26_uc010zzy.1_RNA	p.S52S	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		3	456	+	all_lung(29;0.00963)		52			Extracellular (Potential).|Cadherin 1.		A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Silent	SNP	ENST00000244047.5	37	c.156C>T																																																																																					0.502	CDH26-201	KNOWN	basic	protein_coding	protein_coding			NM_177980		24	112	0	0	0	0.108266	0	24	112		
LSM14B	149986	broad.mit.edu	37	20	60697745	60697745	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr20:60697745C>T	ENST00000279068.6	+	1	183	c.23C>T	c.(22-24)cCg>cTg	p.P8L	LSM14B_ENST00000370915.1_Missense_Mutation_p.P8L|LSM14B_ENST00000253001.4_Missense_Mutation_p.P8L	NM_144703.2	NP_653304.2	Q9BX40	LS14B_HUMAN	LSM14B, SCD6 homolog B (S. cerevisiae)	8					multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)	ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			TCAGGCACCCCGTATCTGGGC	0.726																																						uc010gjy.1		NaN																	0					0						c.(22-24)CCG>CTG		LSM14 homolog B							31.0	31.0	31.0					20																	60697745		2198	4299	6497	SO:0001583	missense	149986				multicellular organismal development|regulation of translation	ribonucleoprotein complex		g.chr20:60697745C>T	AF172328	CCDS46626.1	20q13.33	2010-01-27	2006-12-21	2006-01-24	ENSG00000149657	ENSG00000149657			15887	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 40"", ""family with sequence similarity 61, member B"", ""LSM14 homolog B (SCD6, S. cerevisiae)"""	C20orf40, FAM61B			Standard	NM_144703		Approved	FT005, bA11M20.3, FLJ25473, LSM13, RAP55B	uc010gjy.1	Q9BX40	OTTHUMG00000032901	ENST00000279068.6:c.23C>T	20.37:g.60697745C>T	ENSP00000279068:p.Pro8Leu					LSM14B_uc002ybt.2_Missense_Mutation_p.P8L|LSM14B_uc010gjx.1_Missense_Mutation_p.P8L|LSM14B_uc002ybv.2_Missense_Mutation_p.P8L|LSM14B_uc010gjz.1_5'Flank|LSM14B_uc010zzz.1_5'Flank	p.P8L	NM_144703	NP_653304	Q9BX40	LS14B_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.28e-07)		1	229	+	Breast(26;3.97e-09)		8					Q6PFW8|Q96LH8	Missense_Mutation	SNP	ENST00000279068.6	37	c.23C>T	CCDS46626.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.466955	0.84425	.	.	ENSG00000149657	ENST00000370915;ENST00000279068;ENST00000253001;ENST00000400318;ENST00000279069	T;T;T	0.50277	0.8;0.75;0.76	3.03	2.02	0.26589	Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	U	0.000000	T	0.63593	0.2524	M	0.72624	2.21	0.80722	D	1	B;D;P	0.89917	0.144;1.0;0.87	B;D;P	0.87578	0.019;0.998;0.453	T	0.63659	-0.6587	10	0.87932	D	0	.	10.0061	0.41957	0.2043:0.7957:0.0:0.0	.	8;8;8	Q9BX40;Q5TBQ0;Q9BX40-2	LS14B_HUMAN;.;.	L	8	ENSP00000279068:P8L;ENSP00000253001:P8L;ENSP00000383172:P8L	ENSP00000253001:P8L	P	+	2	0	LSM14B	60131140	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	4.690000	0.61731	0.327000	0.23409	0.305000	0.20034	CCG		0.726	LSM14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079996.4		NM_144703		6	33	0	0	0	0.021553	0	6	33		
COL18A1	80781	broad.mit.edu	37	21	46914788	46914788	+	Missense_Mutation	SNP	C	C	T	rs201566264	byFrequency	TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr21:46914788C>T	ENST00000359759.4	+	27	3658	c.3637C>T	c.(3637-3639)Cgg>Tgg	p.R1213W	COL18A1_ENST00000355480.5_Missense_Mutation_p.R978W|COL18A1_ENST00000459895.1_3'UTR|COL18A1_ENST00000400337.2_Missense_Mutation_p.R798W			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1213	Triple-helical region 6 (COL6).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TCCATACGGACGGCCGGGGTA	0.682													C|||	5	0.000998403	0.003	0.0	5008	,	,		14482	0.0		0.0	False		,,,				2504	0.001					uc011afs.1		NaN																	0				central_nervous_system(1)	1						c.(3637-3639)CGG>TGG		alpha 1 type XVIII collagen isoform 3 precursor		C	TRP/ARG,TRP/ARG	7,3789		0,7,1891	27.0	30.0	29.0		2932,2392	3.5	1.0	21		29	0,8204		0,0,4102	yes	missense,missense	COL18A1	NM_030582.3,NM_130445.2	101,101	0,7,5993	TT,TC,CC		0.0,0.1844,0.0583	probably-damaging,probably-damaging	978/1520,798/1340	46914788	7,11993	1898	4102	6000	SO:0001583	missense	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46914788C>T		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.3637C>T	21.37:g.46914788C>T	ENSP00000352798:p.Arg1213Trp					COL18A1_uc002zhg.2_Missense_Mutation_p.R798W|COL18A1_uc002zhi.2_Missense_Mutation_p.R978W	p.R1213W	NM_130444	NP_569711	P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	27	3658	+			1213			Triple-helical region 6 (COL6).		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	ENST00000359759.4	37	c.3637C>T		.	.	.	.	.	.	.	.	.	.	C	14.15	2.448138	0.43429	0.001844	0.0	ENSG00000182871	ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645;ENST00000342220	D;D;D;D	0.94537	-3.21;-3.21;-3.21;-3.45	3.45	3.45	0.39498	.	0.070076	0.56097	D	0.000031	D	0.96005	0.8699	M	0.72479	2.2	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.987;0.965	D	0.94713	0.7894	10	0.37606	T	0.19	.	10.5959	0.45338	0.0:1.0:0.0:0.0	.	1213;978;798	P39060;P39060-1;P39060-2	COIA1_HUMAN;.;.	W	798;798;978;1213;1213;145	ENSP00000383191:R798W;ENSP00000347665:R978W;ENSP00000352798:R1213W;ENSP00000339118:R145W	ENSP00000339118:R145W	R	+	1	2	COL18A1	45739216	0.136000	0.22515	0.972000	0.41901	0.036000	0.12997	1.064000	0.30579	1.941000	0.56285	0.313000	0.20887	CGG		0.682	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1				7	22	0	0	0	0.047766	0	7	22		
GGT1	2678	broad.mit.edu	37	22	25011027	25011027	+	Silent	SNP	C	C	T	rs112364951	byFrequency	TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr22:25011027C>T	ENST00000400382.1	+	7	1070	c.315C>T	c.(313-315)aaC>aaT	p.N105N	GGT1_ENST00000400380.1_Silent_p.N105N|GGT1_ENST00000400383.1_Silent_p.N105N|GGT1_ENST00000248923.4_Silent_p.N105N|GGT1_ENST00000406383.2_Silent_p.N105N			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	105					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	AGGTCATCAACGCCCGCGAGG	0.637																																						uc003aan.1		NaN																	0					0						c.(313-315)AAC>AAT		gamma-glutamyltransferase 1 precursor	Glutathione(DB00143)						21.0	23.0	22.0					22																	25011027		1868	4096	5964	SO:0001819	synonymous_variant	2678				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding	g.chr22:25011027C>T	M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"""CD molecules"", ""Gamma-glutamyltransferases"""	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000400382.1:c.315C>T	22.37:g.25011027C>T						GGT1_uc003aas.1_Silent_p.N105N|GGT1_uc003aat.1_Silent_p.N105N|GGT1_uc003aau.1_Silent_p.N105N|GGT1_uc003aav.1_Silent_p.N105N|GGT1_uc003aaw.1_Silent_p.N105N|GGT1_uc003aax.1_Silent_p.N105N	p.N105N	NM_013430	NP_038347	P19440	GGT1_HUMAN			7	802	+			105			Extracellular (Potential).		Q08247|Q14404|Q8TBS1|Q9UMK1	Silent	SNP	ENST00000400382.1	37	c.315C>T	CCDS42992.1																																																																																				0.637	GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250797.1		NM_013430		4	60	0	0	0	0.009096	0	4	60		
LARGE	9215	broad.mit.edu	37	22	33780235	33780235	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr22:33780235C>G	ENST00000354992.2	-	9	1519	c.948G>C	c.(946-948)tgG>tgC	p.W316C	LARGE_ENST00000402320.1_Missense_Mutation_p.W316C|LARGE_ENST00000437602.2_Missense_Mutation_p.W316C|LARGE_ENST00000337431.2_Missense_Mutation_p.W316C|LARGE_ENST00000452586.2_Missense_Mutation_p.W115C|LARGE_ENST00000397394.2_Missense_Mutation_p.W316C	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	316					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				CGGTCAGCCTCCACATCTGCT	0.488																																					Colon(70;397 1175 4573 19089 45288)	uc003and.3		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(946-948)TGG>TGC		like-glycosyltransferase							147.0	123.0	131.0					22																	33780235		2203	4300	6503	SO:0001583	missense	9215				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	g.chr22:33780235C>G	AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"""Glycosyltransferase family 8 domain containing"""	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.948G>C	22.37:g.33780235C>G	ENSP00000347088:p.Trp316Cys					LARGE_uc011amd.1_Missense_Mutation_p.W115C|LARGE_uc003ane.3_Missense_Mutation_p.W316C|LARGE_uc010gwp.2_Missense_Mutation_p.W316C|LARGE_uc011ame.1_Missense_Mutation_p.W248C|LARGE_uc011amf.1_Missense_Mutation_p.W316C|LARGE_uc010gwq.1_RNA	p.W316C	NM_004737	NP_004728	O95461	LARGE_HUMAN			9	1527	-		Lung NSC(1;0.219)	316			Lumenal (Potential).		B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Missense_Mutation	SNP	ENST00000354992.2	37	c.948G>C	CCDS13912.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364792	0.82463	.	.	ENSG00000133424	ENST00000354992;ENST00000337431;ENST00000397394;ENST00000402320;ENST00000452586;ENST00000437602;ENST00000421768	T;T;T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04;1.04;1.04	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.70684	0.3252	M	0.87547	2.89	0.80722	D	1	B;D;D;D	0.76494	0.433;0.999;0.994;0.978	B;D;D;D	0.79108	0.375;0.992;0.951;0.933	T	0.74456	-0.3659	9	.	.	.	-5.4911	19.4661	0.94943	0.0:1.0:0.0:0.0	.	316;115;316;316	B7Z2I9;E9PH73;O95461-2;O95461	.;.;.;LARGE_HUMAN	C	316;316;316;316;115;316;115	ENSP00000347088:W316C;ENSP00000336636:W316C;ENSP00000380549:W316C;ENSP00000385223:W316C;ENSP00000407917:W115C;ENSP00000388544:W316C;ENSP00000403841:W115C	.	W	-	3	0	LARGE	32110235	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.234000	0.78134	2.653000	0.90120	0.563000	0.77884	TGG		0.488	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2		NM_133642		35	85	0	0	0	0.059317	0	35	85		
CYTH4	27128	broad.mit.edu	37	22	37699360	37699360	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr22:37699360C>T	ENST00000248901.6	+	8	800	c.613C>T	c.(613-615)Cgg>Tgg	p.R205W		NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	205	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						TCCCAACGTCCGGGACAGGCC	0.612																																						uc003arf.2		NaN																	0				ovary(2)	2						c.(613-615)CGG>TGG		cytohesin 4							85.0	72.0	77.0					22																	37699360		2203	4300	6503	SO:0001583	missense	27128				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr22:37699360C>T	AF075458	CCDS13946.1	22q12.3-q13.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000100055	ENSG00000100055		"""Pleckstrin homology (PH) domain containing"""	9505	protein-coding gene	gene with protein product		606514	"""pleckstrin homology, Sec7 and coiled/coil domains 4"", ""pleckstrin homology, Sec7 and coiled-coil domains 4"""	PSCD4		10591208	Standard	NM_013385		Approved	CYT4, cytohesin-4	uc003arf.3	Q9UIA0	OTTHUMG00000150562	ENST00000248901.6:c.613C>T	22.37:g.37699360C>T	ENSP00000248901:p.Arg205Trp					CYTH4_uc003are.2_Missense_Mutation_p.R205W|CYTH4_uc011amw.1_Missense_Mutation_p.R148W|CYTH4_uc010gxe.2_Intron	p.R205W	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN			8	729	+			205			SEC7.		Q5R3F9|Q9UGT6	Missense_Mutation	SNP	ENST00000248901.6	37	c.613C>T	CCDS13946.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.815004	0.50527	.	.	ENSG00000100055	ENST00000248901;ENST00000422721	T	0.55930	0.49	4.54	4.54	0.55810	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.058176	0.64402	D	0.000004	T	0.66626	0.2808	M	0.68952	2.095	0.38835	D	0.955932	D;D	0.89917	0.999;1.0	D;D	0.67231	0.95;0.949	T	0.71820	-0.4477	10	0.87932	D	0	.	10.4846	0.44713	0.3133:0.6867:0.0:0.0	.	205;218	Q9UIA0;Q9H7Q0	CYH4_HUMAN;.	W	205;218	ENSP00000248901:R205W	ENSP00000248901:R205W	R	+	1	2	CYTH4	36029306	0.189000	0.23263	0.962000	0.40283	0.253000	0.25986	2.419000	0.44671	2.228000	0.72767	0.561000	0.74099	CGG		0.612	CYTH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318917.1				9	52	0	0	0	0.058154	0	9	52		
PLXNB2	23654	broad.mit.edu	37	22	50718455	50718455	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr22:50718455G>C	ENST00000449103.1	-	26	4361	c.4221C>G	c.(4219-4221)atC>atG	p.I1407M	PLXNB2_ENST00000359337.4_Missense_Mutation_p.I1407M			O15031	PLXB2_HUMAN	plexin B2	1407					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGTACAGGCAGATGGACATCC	0.607																																						uc003bkv.3		NaN																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(4219-4221)ATC>ATG		plexin B2 precursor							77.0	87.0	84.0					22																	50718455		2170	4280	6450	SO:0001583	missense	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50718455G>C		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.4221C>G	22.37:g.50718455G>C	ENSP00000409171:p.Ile1407Met					PLXNB2_uc003bkt.1_Missense_Mutation_p.I199M|PLXNB2_uc003bku.1_Missense_Mutation_p.I392M	p.I1407M	NM_012401	NP_036533	O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	26	4327	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1407			Cytoplasmic (Potential).		A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	c.4221C>G	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	g	15.64	2.892072	0.52014	.	.	ENSG00000196576	ENST00000449103;ENST00000359337;ENST00000399964	T;T	0.15139	2.45;2.45	4.49	3.47	0.39725	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.64402	D	0.000001	T	0.30166	0.0756	M	0.68593	2.085	0.48901	D	0.999721	D	0.65815	0.995	D	0.65573	0.936	T	0.07424	-1.0773	10	0.48119	T	0.1	.	3.0841	0.06272	0.2516:0.0:0.5386:0.2098	.	1407	O15031	PLXB2_HUMAN	M	1407;1407;39	ENSP00000409171:I1407M;ENSP00000352288:I1407M	ENSP00000352288:I1407M	I	-	3	3	PLXNB2	49060582	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	2.124000	0.42006	1.233000	0.43693	0.457000	0.33378	ATC		0.607	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3		NM_012401		10	46	0	0	0	0.058154	0	10	46		
TYMP	1890	broad.mit.edu	37	22	50968116	50968116	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr22:50968116C>T	ENST00000252029.3	-	2	185	c.23G>A	c.(22-24)gGa>gAa	p.G8E	TYMP_ENST00000395680.1_Missense_Mutation_p.G8E|TYMP_ENST00000395678.3_Missense_Mutation_p.G8E|TYMP_ENST00000395681.1_Missense_Mutation_p.G8E	NM_001113755.2|NM_001113756.2|NM_001257988.1|NM_001257989.1|NM_001953.4	NP_001107227.1|NP_001107228.1|NP_001244917.1|NP_001244918.1|NP_001944.1	P19971	TYPH_HUMAN	thymidine phosphorylase	8					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|chemotaxis (GO:0006935)|DNA replication (GO:0006260)|mitochondrial genome maintenance (GO:0000002)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphorylase activity (GO:0004645)|platelet-derived growth factor receptor binding (GO:0005161)|pyrimidine-nucleoside phosphorylase activity (GO:0016154)|thymidine phosphorylase activity (GO:0009032)|transferase activity, transferring pentosyl groups (GO:0016763)			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Capecitabine(DB01101)|Cidofovir(DB00369)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Trifluridine(DB00432)	GGCCCCGGTTCCCGGGGTCAT	0.716																																						uc003bmb.3		NaN																	0				ovary(1)	1						c.(22-24)GGA>GAA		endothelial cell growth factor 1	Capecitabine(DB01101)|Docetaxel(DB01248)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Sulfasalazine(DB00795)|Tamoxifen(DB00675)						10.0	14.0	13.0					22																	50968116		2186	4284	6470	SO:0001583	missense	1890				angiogenesis|cell differentiation|chemotaxis|DNA replication|mitochondrial genome maintenance|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol	growth factor activity|platelet-derived growth factor receptor binding|pyrimidine-nucleoside phosphorylase activity|thymidine phosphorylase activity	g.chr22:50968116C>T	M63193	CCDS14096.1, CCDS58811.1	22q13	2014-09-17	2008-01-21	2008-01-21	ENSG00000025708	ENSG00000025708	2.4.2.4		3148	protein-coding gene	gene with protein product	"""gliostatin"""	131222	"""endothelial cell growth factor 1 (platelet-derived)"""	MNGIE, ECGF1		1590793, 11733540	Standard	NM_001113755		Approved		uc003bme.5	P19971	OTTHUMG00000150249	ENST00000252029.3:c.23G>A	22.37:g.50968116C>T	ENSP00000252029:p.Gly8Glu					TYMP_uc003bmc.3_Missense_Mutation_p.G8E|TYMP_uc003bmd.3_Missense_Mutation_p.G8E|TYMP_uc010hbd.2_Missense_Mutation_p.G8E|TYMP_uc003bme.3_Missense_Mutation_p.G8E|TYMP_uc003bmf.3_Missense_Mutation_p.G8E|TYMP_uc011arz.1_Missense_Mutation_p.G8E	p.G8E	NM_001113756	NP_001107228	P19971	TYPH_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	1	143	-		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	8					A8MW15|H9KVA0|Q13390|Q8WVB7	Missense_Mutation	SNP	ENST00000252029.3	37	c.23G>A	CCDS14096.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.671858	0.47781	.	.	ENSG00000025708	ENST00000395680;ENST00000395681;ENST00000252029;ENST00000395678;ENST00000425169	D;D;D;D;D	0.98633	-4.74;-4.73;-4.74;-4.74;-5.04	2.49	0.121	0.14695	.	.	.	.	.	D	0.93458	0.7913	N	0.08118	0	0.09310	N	1	B;B;B;B	0.14438	0.01;0.01;0.01;0.01	B;B;B;B	0.14023	0.01;0.01;0.01;0.01	D	0.88456	0.3052	9	0.87932	D	0	0.1449	3.264	0.06859	0.0:0.5391:0.2841:0.1767	.	8;8;8;8	B4DVR2;B2RBL3;E5KRG5;P19971	.;.;.;TYPH_HUMAN	E	8	ENSP00000379037:G8E;ENSP00000379038:G8E;ENSP00000252029:G8E;ENSP00000379036:G8E;ENSP00000395875:G8E	ENSP00000252029:G8E	G	-	2	0	TYMP	49314982	0.000000	0.05858	0.009000	0.14445	0.023000	0.10783	0.236000	0.17967	0.163000	0.19507	0.462000	0.41574	GGA		0.716	TYMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317081.1		NM_001953		4	25	0	0	0	0.014758	0	4	25		
FGD5	152273	broad.mit.edu	37	3	14862507	14862507	+	Silent	SNP	G	G	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr3:14862507G>A	ENST00000285046.5	+	1	2039	c.1929G>A	c.(1927-1929)ccG>ccA	p.P643P	FGD5_ENST00000543601.1_Silent_p.P402P	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	643					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GCGACTCCCCGGACAAGTACA	0.507																																						uc003bzc.2		NaN																	0				ovary(3)|kidney(1)|pancreas(1)	5						c.(1927-1929)CCG>CCA		FYVE, RhoGEF and PH domain containing 5							81.0	80.0	80.0					3																	14862507		1981	4163	6144	SO:0001819	synonymous_variant	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14862507G>A	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.1929G>A	3.37:g.14862507G>A						FGD5_uc011avk.1_Silent_p.P643P	p.P643P	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN			1	2039	+			643					B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Silent	SNP	ENST00000285046.5	37	c.1929G>A	CCDS46767.1																																																																																				0.507	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1		NM_152536		21	45	0	0	0	0.062417	0	21	45		
RHOA	387	broad.mit.edu	37	3	49397710	49397710	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr3:49397710C>T	ENST00000418115.1	-	5	898	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	RHOA_ENST00000454011.2_3'UTR|GPX1_ENST00000419349.1_5'Flank|GPX1_ENST00000496791.1_5'Flank|GPX1_ENST00000419783.1_5'Flank|RHOA_ENST00000422781.1_3'UTR	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	172					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GTAGCCATTTCAAAAACCTCT	0.483																																						uc003cwu.2		NaN																	0				ovary(2)	2						c.(514-516)GAA>AAA		ras homolog gene family, member A precursor	Atorvastatin(DB01076)|Simvastatin(DB00641)						350.0	288.0	309.0					3																	49397710		2203	4300	6503	SO:0001583	missense	387				axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding	g.chr3:49397710C>T	BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838	ENST00000418115.1:c.514G>A	3.37:g.49397710C>T	ENSP00000400175:p.Glu172Lys					RHOA_uc010hku.2_Missense_Mutation_p.E91K|GPX1_uc011bcl.1_5'Flank|GPX1_uc011bcm.1_5'Flank	p.E172K	NM_001664	NP_001655	P61586	RHOA_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	5	790	-			172					P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	ENST00000418115.1	37	c.514G>A	CCDS2795.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259895	0.95368	.	.	ENSG00000067560	ENST00000418115	T	0.71103	-0.54	6.03	6.03	0.97812	.	0.049449	0.85682	D	0.000000	T	0.77377	0.4121	N	0.25332	0.735	0.80722	D	1	D	0.63880	0.993	D	0.71414	0.973	T	0.78979	-0.1990	10	0.87932	D	0	.	19.1349	0.93424	0.0:1.0:0.0:0.0	.	172	P61586	RHOA_HUMAN	K	172	ENSP00000400175:E172K	ENSP00000400175:E172K	E	-	1	0	RHOA	49372714	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.792000	0.85828	2.861000	0.98227	0.655000	0.94253	GAA		0.483	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3		NM_001664		20	91	0	0	0	0.055883	0	20	91		
ADPRH	141	broad.mit.edu	37	3	119305346	119305346	+	Silent	SNP	G	G	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr3:119305346G>A	ENST00000478399.1	+	3	1918	c.513G>A	c.(511-513)ggG>ggA	p.G171G	ADPRH_ENST00000471850.1_3'UTR|ADPRH_ENST00000465513.1_Silent_p.G171G|ADPRH_ENST00000357003.3_Silent_p.G171G|ADPRH_ENST00000478927.1_Silent_p.G171G			P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	171					cellular protein modification process (GO:0006464)|protein de-ADP-ribosylation (GO:0051725)		ADP-ribosylarginine hydrolase activity (GO:0003875)|magnesium ion binding (GO:0000287)			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		GCTACCTGGGGGCCCTTGCGT	0.542																																					GBM(133;579 1804 5989 9967 40052)	uc003ecs.2		NaN																	0				ovary(1)	1						c.(511-513)GGG>GGA		ADP-ribosylarginine hydrolase							135.0	137.0	136.0					3																	119305346		2203	4300	6503	SO:0001819	synonymous_variant	141				protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding	g.chr3:119305346G>A	L13291	CCDS2990.1	3q13.31-q13.33	2004-02-27			ENSG00000144843	ENSG00000144843			269	protein-coding gene	gene with protein product		603081				8349667, 12070318	Standard	NM_001125		Approved	ARH1	uc003ecs.3	P54922	OTTHUMG00000159420	ENST00000478399.1:c.513G>A	3.37:g.119305346G>A						ADPRH_uc010hqv.2_Silent_p.G171G|ADPRH_uc011bjb.1_Silent_p.G64G|ADPRH_uc003ect.2_Silent_p.G171G	p.G171G	NM_001125	NP_001116	P54922	ADPRH_HUMAN		GBM - Glioblastoma multiforme(114;0.23)	4	811	+		Lung NSC(201;0.0977)	171					B2R8H1|D3DN83	Silent	SNP	ENST00000478399.1	37	c.513G>A	CCDS2990.1																																																																																				0.542	ADPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355199.1		NM_001125		38	115	0	0	0	0.069456	0	38	115		
PLSCR1	5359	broad.mit.edu	37	3	146251317	146251317	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr3:146251317G>T	ENST00000342435.4	-	3	444	c.34C>A	c.(34-36)Cac>Aac	p.H12N	PLSCR1_ENST00000448205.1_5'UTR|PLSCR1_ENST00000487389.1_Missense_Mutation_p.H5N|PLSCR1_ENST00000448787.2_Silent_p.L3L	NM_021105.2	NP_066928.1	O15162	PLS1_HUMAN	phospholipid scramblase 1	12	Proline-rich domain (PRD).				acute-phase response (GO:0006953)|apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|negative regulation of viral genome replication (GO:0045071)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid scrambling (GO:0017121)|platelet activation (GO:0030168)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of gene expression (GO:0010628)|positive regulation of innate immune response (GO:0045089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060368)|regulation of mast cell activation (GO:0033003)|response to interferon-beta (GO:0035456)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|epidermal growth factor receptor binding (GO:0005154)|phospholipid scramblase activity (GO:0017128)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						GTTTCCGGGTGAGAAGCATTC	0.353																																						uc003evx.3		NaN																	0				ovary(2)	2						c.(34-36)CAC>AAC		phospholipid scramblase 1							109.0	111.0	110.0					3																	146251317		2203	4300	6503	SO:0001583	missense	5359				phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding	g.chr3:146251317G>T	AF098642	CCDS3135.1	3q23	2004-02-27			ENSG00000188313	ENSG00000188313			9092	protein-coding gene	gene with protein product		604170				9218461	Standard	NM_021105		Approved	MMTRA1B	uc003evx.4	O15162	OTTHUMG00000159427	ENST00000342435.4:c.34C>A	3.37:g.146251317G>T	ENSP00000345494:p.His12Asn					PLSCR1_uc003evy.3_Missense_Mutation_p.H5N|PLSCR1_uc011bnn.1_Silent_p.L3L|PLSCR1_uc003evz.3_RNA|PLSCR1_uc003ewa.2_Missense_Mutation_p.H12N	p.H12N	NM_021105	NP_066928	O15162	PLS1_HUMAN			3	422	-			12			Cytoplasmic.		B2R8H8|B4DTE8	Missense_Mutation	SNP	ENST00000342435.4	37	c.34C>A	CCDS3135.1	.	.	.	.	.	.	.	.	.	.	G	9.046	0.990808	0.18966	.	.	ENSG00000188313	ENST00000342435;ENST00000487389;ENST00000462666;ENST00000472349	T;T;T;T	0.22743	2.25;2.25;2.15;1.94	3.47	1.68	0.24146	.	.	.	.	.	T	0.14700	0.0355	L	0.36672	1.1	0.09310	N	0.999998	B;B	0.32160	0.358;0.244	B;B	0.32864	0.154;0.017	T	0.23332	-1.0191	9	0.33141	T	0.24	.	5.3653	0.16111	0.2575:0.0:0.7425:0.0	.	12;12	Q8WVK1;O15162	.;PLS1_HUMAN	N	12;5;12;12	ENSP00000345494:H12N;ENSP00000417792:H5N;ENSP00000418103:H12N;ENSP00000420523:H12N	ENSP00000345494:H12N	H	-	1	0	PLSCR1	147734007	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.019000	0.12546	0.480000	0.27534	-0.142000	0.14014	CAC		0.353	PLSCR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355257.2		NM_021105		22	82	1	0	3.62473e-10	0.062417	4.0489e-10	22	82		
BOD1L1	259282	broad.mit.edu	37	4	13601146	13601146	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr4:13601146C>A	ENST00000040738.5	-	10	7513	c.7378G>T	c.(7378-7380)Gaa>Taa	p.E2460*		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2460						nucleus (GO:0005634)	DNA binding (GO:0003677)										TTCTTCTCTTCTGCATTTATG	0.468											OREG0016115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003gmz.1		NaN																	0				ovary(5)|breast(1)	6						c.(7378-7380)GAA>TAA		biorientation of chromosomes in cell division							151.0	136.0	141.0					4																	13601146		2203	4300	6503	SO:0001587	stop_gained	259282						DNA binding	g.chr4:13601146C>A	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.7378G>T	4.37:g.13601146C>A	ENSP00000040738:p.Glu2460*		OREG0016115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	688	BOD1L_uc010idr.1_Nonsense_Mutation_p.E1797*	p.E2460*	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN			10	7495	-			2460					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Nonsense_Mutation	SNP	ENST00000040738.5	37	c.7378G>T	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	C	46	12.633340	0.99684	.	.	ENSG00000038219	ENST00000040738	.	.	.	3.47	1.26	0.21427	.	0.984200	0.08284	N	0.969442	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	5.3745	0.16158	0.2483:0.6217:0.0:0.1299	.	.	.	.	X	2460	.	ENSP00000040738:E2460X	E	-	1	0	BOD1L	13210244	0.000000	0.05858	0.002000	0.10522	0.029000	0.11900	0.667000	0.25112	0.428000	0.26173	0.555000	0.69702	GAA		0.468	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1		NM_148894		19	60	1	0	2.39187e-15	0.049695	2.7005e-15	19	60		
BOD1L1	259282	broad.mit.edu	37	4	13601587	13601587	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr4:13601587C>T	ENST00000040738.5	-	10	7072	c.6937G>A	c.(6937-6939)Gaa>Aaa	p.E2313K		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2313						nucleus (GO:0005634)	DNA binding (GO:0003677)										AGCCGATCTTCATCCTGGAGG	0.522																																						uc003gmz.1		NaN																	0				ovary(5)|breast(1)	6						c.(6937-6939)GAA>AAA		biorientation of chromosomes in cell division							86.0	67.0	73.0					4																	13601587		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13601587C>T	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.6937G>A	4.37:g.13601587C>T	ENSP00000040738:p.Glu2313Lys					BOD1L_uc010idr.1_Missense_Mutation_p.E1650K	p.E2313K	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN			10	7054	-			2313					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.6937G>A	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	C	26.0	4.698284	0.88830	.	.	ENSG00000038219	ENST00000040738	T	0.11385	2.78	5.37	4.52	0.55395	.	0.394149	0.21240	N	0.077835	T	0.12263	0.0298	L	0.55990	1.75	0.09310	N	1	P	0.40970	0.734	B	0.37731	0.257	T	0.14587	-1.0467	10	0.56958	D	0.05	-7.5587	11.8897	0.52622	0.0:0.9171:0.0:0.0829	.	2313	Q8NFC6	BOD1L_HUMAN	K	2313	ENSP00000040738:E2313K	ENSP00000040738:E2313K	E	-	1	0	BOD1L	13210685	0.262000	0.24073	0.021000	0.16686	0.570000	0.35934	1.383000	0.34385	2.525000	0.85131	0.650000	0.86243	GAA		0.522	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1		NM_148894		10	6	0	0	0	0.058154	0	10	6		
PCDH18	54510	broad.mit.edu	37	4	138451062	138451062	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr4:138451062C>G	ENST00000344876.4	-	1	2567	c.2181G>C	c.(2179-2181)gaG>gaC	p.E727D	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.E507D|PCDH18_ENST00000412923.2_Missense_Mutation_p.E727D|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	727					brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGTCTTTCTTCTCGCGGTTAC	0.448																																						uc003ihe.3		NaN																	0				pancreas(3)|skin(2)	5						c.(2179-2181)GAG>GAC		protocadherin 18 precursor							156.0	134.0	142.0					4																	138451062		2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138451062C>G	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.2181G>C	4.37:g.138451062C>G	ENSP00000355082:p.Glu727Asp					PCDH18_uc003ihf.3_Missense_Mutation_p.E720D|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.E507D|PCDH18_uc011cha.1_Intron	p.E727D	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN			1	2568	-	all_hematologic(180;0.24)		727			Cytoplasmic (Potential).		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.2181G>C	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.704115	0.30232	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.56444	0.54;0.55;0.46	5.53	0.438	0.16560	.	0.000000	0.43919	D	0.000506	T	0.54415	0.1857	L	0.39467	1.215	0.80722	D	1	D;P;D	0.69078	0.997;0.729;0.997	D;P;D	0.72625	0.978;0.511;0.978	T	0.49978	-0.8881	10	0.12103	T	0.63	.	9.6775	0.40050	0.0:0.4339:0.0:0.5661	.	507;727;727	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	D	727;727;507	ENSP00000355082:E727D;ENSP00000390688:E727D;ENSP00000425903:E507D	ENSP00000355082:E727D	E	-	3	2	PCDH18	138670512	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	0.895000	0.28363	0.181000	0.19994	-0.302000	0.09304	GAG		0.448	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1		NM_019035		23	43	0	0	0	0.069288	0	23	43		
SLC6A19	340024	broad.mit.edu	37	5	1214154	1214154	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr5:1214154C>G	ENST00000304460.10	+	6	917	c.861C>G	c.(859-861)atC>atG	p.I287M		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	287					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGGGCCTCATCTCCTTCTCCA	0.622																																						uc003jbw.3		NaN																	0					0						c.(859-861)ATC>ATG		solute carrier family 6, member 19							87.0	80.0	82.0					5																	1214154		2203	4300	6503	SO:0001583	missense	340024				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1214154C>G	AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"""Solute carriers"""	27960	protein-coding gene	gene with protein product	"""Hartnup disease"""	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.861C>G	5.37:g.1214154C>G	ENSP00000305302:p.Ile287Met						p.I287M	NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		6	917	+	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		287			Helical; Name=6; (Potential).		A8K446	Missense_Mutation	SNP	ENST00000304460.10	37	c.861C>G	CCDS34130.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.595555	0.66219	.	.	ENSG00000174358	ENST00000304460	T	0.77358	-1.09	4.96	1.68	0.24146	.	0.096037	0.64402	D	0.000001	D	0.85754	0.5770	M	0.82630	2.6	0.45066	D	0.998086	D	0.89917	1.0	D	0.85130	0.997	D	0.84122	0.0407	10	0.87932	D	0	.	7.1281	0.25484	0.0:0.5357:0.0:0.4643	.	287	Q695T7	S6A19_HUMAN	M	287	ENSP00000305302:I287M	ENSP00000305302:I287M	I	+	3	3	SLC6A19	1267154	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.391000	0.34475	0.504000	0.28082	0.491000	0.48974	ATC		0.622	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1		XM_291120		24	85	0	0	0	0.0918	0	24	85		
IL6ST	3572	broad.mit.edu	37	5	55252048	55252048	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr5:55252048C>G	ENST00000381298.2	-	10	1384	c.1072G>C	c.(1072-1074)Gaa>Caa	p.E358Q	IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000336909.5_Missense_Mutation_p.E358Q|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000522633.2_Nonstop_Mutation_p.*330S|IL6ST_ENST00000381287.4_Nonstop_Mutation_p.*330S|IL6ST_ENST00000502326.3_Missense_Mutation_p.E358Q|IL6ST_ENST00000381294.3_Missense_Mutation_p.E358Q|IL6ST_ENST00000536319.1_Nonstop_Mutation_p.*330S	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	358	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				CCATTGGCTTCAAAAGGAGGC	0.284			O		hepatocellular ca																																	uc003jqq.2		NaN		Dom	yes		5	5q11	3572	O	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			E			hepatocellular ca		0				large_intestine(1)|ovary(1)	2						c.(1072-1074)GAA>CAA		interleukin 6 signal transducer isoform 1							103.0	100.0	101.0					5																	55252048		2203	4300	6503	SO:0001583	missense	3572				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity	g.chr5:55252048C>G	M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6021	protein-coding gene	gene with protein product	"""gp130, oncostatin M receptor"""	600694	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.1072G>C	5.37:g.55252048C>G	ENSP00000370698:p.Glu358Gln					IL6ST_uc010iwb.2_Missense_Mutation_p.E358Q|IL6ST_uc010iwc.2_Intron|IL6ST_uc010iwd.2_Intron|IL6ST_uc011cqk.1_Missense_Mutation_p.E69Q|IL6ST_uc003jqr.2_Nonstop_Mutation_p.*330S	p.E358Q	NM_002184	NP_002175	P40189	IL6RB_HUMAN			10	1327	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)	358			Extracellular (Potential).|Fibronectin type-III 3.		A0N0L4|Q5FC04|Q9UQ41	Missense_Mutation	SNP	ENST00000381298.2	37	c.1072G>C	CCDS3971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.58|13.58	2.278692|2.278692	0.40294|0.40294	.|.	.|.	ENSG00000134352|ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294|ENST00000381287;ENST00000536319;ENST00000522633	T;T;T|.	0.43294|.	0.95;0.95;0.95|.	5.75|5.75	2.86|2.86	0.33363|0.33363	Fibronectin, type III (3);Immunoglobulin-like fold (1);|.	0.785284|.	0.12809|.	N|.	0.437379|.	T|.	0.59555|.	0.2202|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B;B;B|.	0.06786|.	0.001;0.001;0.001|.	B;B;B|.	0.12156|.	0.002;0.007;0.002|.	T|.	0.55848|.	-0.8076|.	9|.	0.38643|.	T|.	0.18|.	.|.	10.3072|10.3072	0.43687|0.43687	0.0:0.6778:0.2528:0.0693|0.0:0.6778:0.2528:0.0693	.|.	358;358;358|.	Q17RA0;Q5FC04;P40189|.	.;.;IL6RB_HUMAN|.	Q|S	358|330	ENSP00000370698:E358Q;ENSP00000338799:E358Q;ENSP00000370694:E358Q|.	ENSP00000338799:E358Q|.	E|X	-|-	1|2	0|2	IL6ST|IL6ST	55287805|55287805	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.240000|2.240000	0.43088|0.43088	0.885000|0.885000	0.36088|0.36088	0.650000|0.650000	0.86243|0.86243	GAA|TGA		0.284	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3		NM_002184		7	35	0	0	0	0.02938	0	7	35		
PCDHA4	56144	broad.mit.edu	37	5	140188974	140188974	+	Silent	SNP	G	G	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr5:140188974G>A	ENST00000530339.1	+	1	2202	c.2202G>A	c.(2200-2202)ccG>ccA	p.P734P	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.P734P|PCDHA4_ENST00000356878.4_Silent_p.P734P	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	734	6 X 4 AA repeats of P-X-X-P.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGCGCTCCGGGCAAGCCCA	0.682																																						uc003lhi.2		NaN																	0				ovary(4)|skin(2)	6						c.(2200-2202)CCG>CCA		protocadherin alpha 4 isoform 1 precursor							58.0	56.0	57.0					5																	140188974		2203	4299	6502	SO:0001819	synonymous_variant	56144				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140188974G>A	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.2202G>A	5.37:g.140188974G>A						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.P734P|PCDHA4_uc011daa.1_Silent_p.P734P	p.P734P	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2303	+			734			Cytoplasmic (Potential).|PXXP 1.|6 X 4 AA repeats of P-X-X-P.		O75285|Q2M253	Silent	SNP	ENST00000530339.1	37	c.2202G>A	CCDS54916.1																																																																																				0.682	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2		NM_018907		22	50	0	0	0	0.055883	0	22	50		
PCDHA9	9752	broad.mit.edu	37	5	140229486	140229486	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr5:140229486C>T	ENST00000532602.1	+	1	2439	c.1406C>T	c.(1405-1407)cCg>cTg	p.P469L	PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.P469L|PCDHA4_ENST00000512229.2_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	469	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)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGAACAACCCGCCGGGCTGC	0.672																																					Melanoma(55;1800 1972 14909)	uc003lhu.2		NaN																	0				large_intestine(2)|ovary(2)|skin(1)	5						c.(1405-1407)CCG>CTG		protocadherin alpha 9 isoform 1 precursor							64.0	67.0	66.0					5																	140229486		2196	4269	6465	SO:0001583	missense	9752				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140229486C>T	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1406C>T	5.37:g.140229486C>T	ENSP00000436042:p.Pro469Leu					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_uc003lht.1_Missense_Mutation_p.P469L	p.P469L	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2130	+			469			Cadherin 5.|Extracellular (Potential).		O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.1406C>T	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.711597	0.30322	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.54071	0.59;0.59	3.56	2.63	0.31362	Cadherin (3);Cadherin-like (1);	0.859520	0.09113	U	0.846809	T	0.60560	0.2278	M	0.66506	2.035	0.09310	N	1	D;P	0.60160	0.987;0.555	P;B	0.49561	0.615;0.129	T	0.52924	-0.8510	10	0.87932	D	0	.	12.5442	0.56190	0.1797:0.8203:0.0:0.0	.	469;469	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	L	469	ENSP00000436042:P469L;ENSP00000367362:P469L	ENSP00000367362:P469L	P	+	2	0	PCDHA9	140209670	0.000000	0.05858	0.542000	0.28115	0.225000	0.24961	-0.049000	0.11924	0.724000	0.32296	0.306000	0.20318	CCG		0.672	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2		NM_031857		41	87	0	0	0	0.09836	0	41	87		
PCDHB2	56133	broad.mit.edu	37	5	140476332	140476332	+	Missense_Mutation	SNP	C	C	T	rs200394929		TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr5:140476332C>T	ENST00000194155.4	+	1	2106	c.1958C>T	c.(1957-1959)cCg>cTg	p.P653L		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	653	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCGAGCCTCCGCGCTCGGCC	0.721																																						uc003lil.2		NaN																	0				ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6						c.(1957-1959)CCG>CTG		protocadherin beta 2 precursor							28.0	29.0	28.0					5																	140476332		2011	3960	5971	SO:0001583	missense	56133				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140476332C>T	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1958C>T	5.37:g.140476332C>T	ENSP00000194155:p.Pro653Leu					PCDHB2_uc003lim.1_Missense_Mutation_p.P314L	p.P653L	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2096	+			653			Cadherin 6.|Extracellular (Potential).		Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	c.1958C>T	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	C	10.98	1.505813	0.26949	.	.	ENSG00000112852	ENST00000194155	T	0.56941	0.43	3.99	3.99	0.46301	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.61887	0.2383	M	0.89287	3.02	0.48975	D	0.999736	B	0.33266	0.404	B	0.34242	0.178	T	0.71454	-0.4588	9	0.62326	D	0.03	.	16.1298	0.81418	0.0:1.0:0.0:0.0	.	653	Q9Y5E7	PCDB2_HUMAN	L	653	ENSP00000194155:P653L	ENSP00000194155:P653L	P	+	2	0	PCDHB2	140456516	0.545000	0.26449	0.430000	0.26722	0.208000	0.24298	5.770000	0.68873	1.921000	0.55644	0.456000	0.33151	CCG		0.721	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2		NM_018936		24	68	0	0	0	0.0918	0	24	68		
PCDHB4	56131	broad.mit.edu	37	5	140503159	140503159	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr5:140503159G>A	ENST00000194152.1	+	1	1579	c.1579G>A	c.(1579-1581)Gag>Aag	p.E527K	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	527	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGGCGTTCGAGTTCCGCGT	0.677																																						uc003lip.1		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(1579-1581)GAG>AAG		protocadherin beta 4 precursor							66.0	74.0	71.0					5																	140503159		2203	4298	6501	SO:0001583	missense	56131				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140503159G>A	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1579G>A	5.37:g.140503159G>A	ENSP00000194152:p.Glu527Lys						p.E527K	NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1579	+			527			Cadherin 5.|Extracellular (Potential).		Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	c.1579G>A	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.464255	0.43736	.	.	ENSG00000081818	ENST00000194152	T	0.01725	4.67	3.97	3.01	0.34805	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.03178	0.0093	N	0.16037	0.36	0.33705	D	0.615049	D	0.71674	0.998	D	0.70487	0.969	T	0.51718	-0.8670	9	0.56958	D	0.05	.	7.0	0.24805	0.1014:0.1794:0.7191:0.0	.	527	Q9Y5E5	PCDB4_HUMAN	K	527	ENSP00000194152:E527K	ENSP00000194152:E527K	E	+	1	0	PCDHB4	140483343	0.001000	0.12720	0.989000	0.46669	0.860000	0.49131	-0.135000	0.10420	2.237000	0.73441	0.556000	0.70494	GAG		0.677	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2		NM_018938		42	85	0	0	0	0.092188	0	42	85		
PCDHB15	56121	broad.mit.edu	37	5	140626734	140626734	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr5:140626734C>T	ENST00000231173.3	+	1	1588	c.1588C>T	c.(1588-1590)Cgc>Tgc	p.R530C		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	530	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTCGAGTTCCGCGTGGGCGC	0.662																																						uc003lje.2		NaN																	0				ovary(2)|breast(2)|skin(1)	5						c.(1588-1590)CGC>TGC		protocadherin beta 15 precursor							59.0	69.0	66.0					5																	140626734		2203	4300	6503	SO:0001583	missense	56121				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140626734C>T	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.1588C>T	5.37:g.140626734C>T	ENSP00000231173:p.Arg530Cys						p.R530C	NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1588	+			530			Extracellular (Potential).|Cadherin 5.		Q8IUX5	Missense_Mutation	SNP	ENST00000231173.3	37	c.1588C>T	CCDS4257.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.388666	0.25118	.	.	ENSG00000113248	ENST00000231173	T	0.01767	4.65	4.37	-2.85	0.05734	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.05731	0.0150	L	0.55481	1.735	0.09310	N	1	D	0.65815	0.995	P	0.62382	0.901	T	0.16070	-1.0415	9	0.52906	T	0.07	.	13.4517	0.61174	0.1336:0.2803:0.586:0.0	.	530	Q9Y5E8	PCDBF_HUMAN	C	530	ENSP00000231173:R530C	ENSP00000231173:R530C	R	+	1	0	PCDHB15	140606918	0.000000	0.05858	0.821000	0.32701	0.751000	0.42716	-4.144000	0.00286	-0.207000	0.10187	0.485000	0.47835	CGC		0.662	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2		NM_018935		33	78	0	0	0	0.045705	0	33	78		
HIST1H1D	3007	broad.mit.edu	37	6	26234607	26234607	+	Silent	SNP	T	T	C	rs199868143	byFrequency	TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr6:26234607T>C	ENST00000244534.5	-	1	609	c.555A>G	c.(553-555)aaA>aaG	p.K185K		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	185					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)				TCTTGGCAGCTTTTTTTGGCT	0.522																																						uc003nhd.2		NaN																	0				skin(1)	1						c.(553-555)AAA>AAG		histone cluster 1, H1d							96.0	102.0	100.0					6																	26234607		2203	4300	6503	SO:0001819	synonymous_variant	3007				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26234607T>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.555A>G	6.37:g.26234607T>C							p.K185K	NM_005320	NP_005311	P16402	H13_HUMAN			1	610	-		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)	185					B2R751|Q2M2I2	Silent	SNP	ENST00000244534.5	37	c.555A>G	CCDS4597.1																																																																																				0.522	HIST1H1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040095.1		NM_005320		3	131	0	0	0	0.009096	0	3	131		
VARS	7407	broad.mit.edu	37	6	31760629	31760629	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr6:31760629C>T	ENST00000375663.3	-	4	1006	c.566G>A	c.(565-567)cGc>cAc	p.R189H	VARS_ENST00000444930.2_5'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	189	GST C-terminal.				gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GACAAACCAGCGAGTCACATT	0.547																																						uc003nxe.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(565-567)CGC>CAC		valyl-tRNA synthetase	L-Valine(DB00161)						46.0	47.0	47.0					6																	31760629		2203	4300	6503	SO:0001583	missense	7407				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	g.chr6:31760629C>T	BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	12651	protein-coding gene	gene with protein product	"""valine tRNA ligase 1, cytoplasmic"""	192150	"""valyl-tRNA synthetase 2"""	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.566G>A	6.37:g.31760629C>T	ENSP00000364815:p.Arg189His					VARS_uc011doi.1_RNA	p.R189H	NM_006295	NP_006286	P26640	SYVC_HUMAN			4	989	-			189			GST C-terminal.		B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Missense_Mutation	SNP	ENST00000375663.3	37	c.566G>A	CCDS34412.1	.	.	.	.	.	.	.	.	.	.	C	33	5.209706	0.95069	.	.	ENSG00000204394	ENST00000375663	T	0.02216	4.39	5.1	5.1	0.69264	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.10121	0.0248	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00382	-1.1775	10	0.87932	D	0	-17.6807	14.0219	0.64560	0.0:1.0:0.0:0.0	.	189	P26640	SYVC_HUMAN	H	189	ENSP00000364815:R189H	ENSP00000364815:R189H	R	-	2	0	VARS	31868608	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	6.453000	0.73488	2.357000	0.79964	0.313000	0.20887	CGC		0.547	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2		NM_006295		12	46	0	0	0	0.080935	0	12	46		
GPR110	266977	broad.mit.edu	37	6	46969267	46969267	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr6:46969267G>A	ENST00000371253.2	-	14	2845	c.2630C>T	c.(2629-2631)tCa>tTa	p.S877L	GPR110_ENST00000283297.5_Missense_Mutation_p.S680L|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	877					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						GAAAGGCTTTGAGAATTTGGG	0.313																																						uc003oyt.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(2629-2631)TCA>TTA		G-protein coupled receptor 110 isoform 1							185.0	170.0	175.0					6																	46969267		2203	4300	6503	SO:0001583	missense	266977				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46969267G>A	AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"""-"", ""GPCR / Class B : Orphans"""	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.2630C>T	6.37:g.46969267G>A	ENSP00000360299:p.Ser877Leu					GPR110_uc011dwl.1_Missense_Mutation_p.S565L	p.S877L	NM_153840	NP_722582	Q5T601	GP110_HUMAN			14	2829	-			877			Cytoplasmic (Potential).		Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Missense_Mutation	SNP	ENST00000371253.2	37	c.2630C>T	CCDS34471.1	.	.	.	.	.	.	.	.	.	.	G	6.683	0.494683	0.12702	.	.	ENSG00000153292	ENST00000371253;ENST00000283297	T;T	0.56103	0.48;0.48	5.73	1.16	0.20824	.	1.425600	0.04520	N	0.384345	T	0.12050	0.0293	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.13415	-1.0510	10	0.35671	T	0.21	1.7252	4.2442	0.10663	0.317:0.0:0.5055:0.1775	.	877	Q5T601	GP110_HUMAN	L	877;680	ENSP00000360299:S877L;ENSP00000283297:S680L	ENSP00000283297:S680L	S	-	2	0	GPR110	47077226	0.005000	0.15991	0.000000	0.03702	0.374000	0.29953	0.664000	0.25068	0.229000	0.21039	0.555000	0.69702	TCA		0.313	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2		NM_153840		9	18	0	0	0	0.080935	0	9	18		
CD164	8763	broad.mit.edu	37	6	109691643	109691643	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr6:109691643G>C	ENST00000310786.4	-	5	463	c.398C>G	c.(397-399)tCt>tGt	p.S133C	CD164_ENST00000512821.1_Missense_Mutation_p.S133C|CD164_ENST00000413644.2_Missense_Mutation_p.S133C|CD164_ENST00000324953.5_Intron|CD164_ENST00000504373.1_Missense_Mutation_p.S99C|CD164_ENST00000275080.7_Missense_Mutation_p.S120C|CD164_ENST00000368961.5_Intron|CD164_ENST00000506649.1_5'UTR	NM_001142404.1|NM_006016.4	NP_001135876.1|NP_006007.2	Q04900	MUC24_HUMAN	CD164 molecule, sialomucin	133	Thr-rich.				cell adhesion (GO:0007155)|hemopoiesis (GO:0030097)|heterophilic cell-cell adhesion (GO:0007157)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|muscle organ development (GO:0007517)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(1)|lung(2)	3		all_cancers(87;4.65e-22)|all_epithelial(87;2.54e-20)|all_lung(197;1.6e-05)|Lung NSC(302;2.92e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.0175)		Epithelial(106;7.83e-46)|all cancers(137;1.15e-45)|OV - Ovarian serous cystadenocarcinoma(136;2.89e-26)|BRCA - Breast invasive adenocarcinoma(108;0.00128)|GBM - Glioblastoma multiforme(226;0.16)		GGAAGTTGTAGAAGGGGAGGG	0.378																																						uc003pte.2		NaN																	0					0						c.(397-399)TCT>TGT		CD164 molecule, sialomucin isoform 1							114.0	106.0	109.0					6																	109691643		2203	4300	6503	SO:0001583	missense	8763				hemopoiesis|heterophilic cell-cell adhesion|immune response|muscle organ development|negative regulation of cell adhesion|negative regulation of cell proliferation|signal transduction	endosome membrane|extracellular region|integral to plasma membrane|lysosomal membrane	protein binding	g.chr6:109691643G>C	AF106518	CCDS5073.1, CCDS47462.1, CCDS47463.1, CCDS47464.1, CCDS47465.1	6q21	2014-09-05	2006-03-28		ENSG00000135535	ENSG00000135535		"""CD molecules"""	1632	protein-coding gene	gene with protein product		603356	"""CD164 antigen, sialomucin"""			9680353, 9763543	Standard	NM_006016		Approved	MUC-24, MGC-24	uc003pte.3	Q04900	OTTHUMG00000015339	ENST00000310786.4:c.398C>G	6.37:g.109691643G>C	ENSP00000309376:p.Ser133Cys					CD164_uc003ptd.2_Missense_Mutation_p.S133C|CD164_uc003ptf.2_Intron|CD164_uc011eap.1_Missense_Mutation_p.S133C|CD164_uc010kdn.2_Missense_Mutation_p.S120C	p.S133C	NM_006016	NP_006007	Q04900	MUC24_HUMAN		Epithelial(106;7.83e-46)|all cancers(137;1.15e-45)|OV - Ovarian serous cystadenocarcinoma(136;2.89e-26)|BRCA - Breast invasive adenocarcinoma(108;0.00128)|GBM - Glioblastoma multiforme(226;0.16)	5	579	-		all_cancers(87;4.65e-22)|all_epithelial(87;2.54e-20)|all_lung(197;1.6e-05)|Lung NSC(302;2.92e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.0175)	133			Thr-rich.|Extracellular (Potential).		B4DQ85|E1P5E7|E1P5E8|E1P5E9|O95413|Q5JSU6|Q9BPV0|Q9NR26	Missense_Mutation	SNP	ENST00000310786.4	37	c.398C>G	CCDS5073.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.931009	0.52866	.	.	ENSG00000135535	ENST00000413644;ENST00000310786;ENST00000275080;ENST00000512821;ENST00000504373	T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78	4.23	4.23	0.50019	.	1.024750	0.07820	N	0.959604	T	0.47801	0.1465	L	0.43152	1.355	0.80722	D	1	D;D;D;D	0.69078	0.997;0.979;0.983;0.997	P;P;P;P	0.57468	0.821;0.723;0.819;0.723	T	0.43702	-0.9375	10	0.87932	D	0	-2.8221	12.428	0.55559	0.0:0.0:1.0:0.0	.	133;120;133;133	Q04900-5;Q04900-3;Q04900;Q04900-2	.;.;MUC24_HUMAN;.	C	133;133;120;133;99	ENSP00000402237:S133C;ENSP00000309376:S133C;ENSP00000275080:S120C;ENSP00000427546:S133C;ENSP00000422999:S99C	ENSP00000275080:S120C	S	-	2	0	CD164	109798336	0.467000	0.25831	0.447000	0.26932	0.726000	0.41606	2.411000	0.44600	2.631000	0.89168	0.650000	0.86243	TCT		0.378	CD164-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041742.1		NM_006016		4	21	0	0	0	0.014758	0	4	21		
TNFAIP3	7128	broad.mit.edu	37	6	138198247	138198247	+	Silent	SNP	G	G	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr6:138198247G>A	ENST00000237289.4	+	6	906	c.840G>A	c.(838-840)cgG>cgA	p.R280R	TNFAIP3_ENST00000485192.1_3'UTR	NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	280	TRAF-binding.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)|p.R280fs*1(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		ACAGAGACCGGGGAAGATTTG	0.358			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""																																GBM(130;153 1739 22295 28918 47987)	uc003qhr.2		NaN		Rec	yes		6	6q23	7128	D|N|F	"""tumor necrosis factor, alpha-induced protein 3"""			L			marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma		26	Whole gene deletion(25)|Deletion - Frameshift(1)	p.0?(22)	haematopoietic_and_lymphoid_tissue(26)	haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1)	137						c.(838-840)CGG>CGA		tumor necrosis factor, alpha-induced protein 3							80.0	89.0	86.0					6																	138198247		2203	4300	6503	SO:0001819	synonymous_variant	7128				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr6:138198247G>A	M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"""OTU domain containing"""	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.840G>A	6.37:g.138198247G>A						TNFAIP3_uc003qhs.2_Silent_p.R280R	p.R280R	NM_006290	NP_006281	P21580	TNAP3_HUMAN		GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)	6	906	+	Breast(32;0.135)|Colorectal(23;0.24)		280			TRAF-binding.		B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Silent	SNP	ENST00000237289.4	37	c.840G>A	CCDS5187.1																																																																																				0.358	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042414.1				13	47	0	0	0	0.146539	0	13	47		
KLHL7	55975	broad.mit.edu	37	7	23164704	23164704	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr7:23164704G>A	ENST00000339077.5	+	4	598	c.355G>A	c.(355-357)Gat>Aat	p.D119N	KLHL7_ENST00000322275.5_Missense_Mutation_p.D119N|KLHL7_ENST00000542558.1_Intron|KLHL7_ENST00000479288.1_Intron|KLHL7_ENST00000545771.1_Missense_Mutation_p.D97N|KLHL7_ENST00000322231.7_Missense_Mutation_p.D97N|KLHL7_ENST00000409689.1_Missense_Mutation_p.D71N|KLHL7_ENST00000539124.1_Missense_Mutation_p.D43N|KLHL7_ENST00000410047.1_Missense_Mutation_p.D97N|KLHL7_ENST00000545443.1_Missense_Mutation_p.D97N	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	119					protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GTCTTTGCTGGATGCAGCAAA	0.318																																						uc003svs.3		NaN																	0					0						c.(355-357)GAT>AAT		kelch-like 7 isoform 1							94.0	96.0	95.0					7																	23164704		2201	4299	6500	SO:0001583	missense	55975					Golgi apparatus|nucleolus|plasma membrane		g.chr7:23164704G>A		CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"""Kelch-like"", ""BTB/POZ domain containing"""	15646	protein-coding gene	gene with protein product	"""retinitis pigmentosa 42"""	611119	"""kelch-like 7 (Drosophila)"""			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.355G>A	7.37:g.23164704G>A	ENSP00000343273:p.Asp119Asn					KLHL7_uc003svr.3_Missense_Mutation_p.D97N|KLHL7_uc011jys.1_Missense_Mutation_p.D43N|KLHL7_uc011jyt.1_Intron|KLHL7_uc003svt.2_Missense_Mutation_p.D71N|KLHL7_uc003svp.2_Missense_Mutation_p.D97N|KLHL7_uc003svq.2_Missense_Mutation_p.D119N|KLHL7_uc011jyu.1_Missense_Mutation_p.D97N	p.D119N	NM_001031710	NP_001026880	Q8IXQ5	KLHL7_HUMAN			4	648	+			119					A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Missense_Mutation	SNP	ENST00000339077.5	37	c.355G>A	CCDS34609.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.994998	0.74703	.	.	ENSG00000122550	ENST00000322231;ENST00000339077;ENST00000322275;ENST00000539124;ENST00000409689;ENST00000410047;ENST00000545771;ENST00000545443	T;T;T;T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24	5.78	5.78	0.91487	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.64305	0.2586	N	0.10707	0.03	0.80722	D	1	D;B;B;P;P	0.55385	0.971;0.002;0.004;0.526;0.948	P;B;B;B;P	0.55749	0.783;0.005;0.004;0.393;0.642	T	0.71159	-0.4674	10	0.66056	D	0.02	.	20.3668	0.98882	0.0:0.0:1.0:0.0	.	97;119;97;119;97	F5GYE2;Q8IXQ5;Q8IXQ5-2;Q8IXQ5-3;Q8IXQ5-4	.;KLHL7_HUMAN;.;.;.	N	97;119;119;43;71;97;97;97	ENSP00000322958:D97N;ENSP00000343273:D119N;ENSP00000323270:D119N;ENSP00000441136:D43N;ENSP00000386263:D71N;ENSP00000386999:D97N;ENSP00000446445:D97N;ENSP00000442366:D97N	ENSP00000322958:D97N	D	+	1	0	KLHL7	23131229	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.320000	0.79064	2.894000	0.99253	0.655000	0.94253	GAT		0.318	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326860.3		NM_018846		16	28	0	0	0	0.146539	0	16	28		
SEMA3D	223117	broad.mit.edu	37	7	84751133	84751133	+	Silent	SNP	T	T	C			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr7:84751133T>C	ENST00000284136.6	-	1	118	c.75A>G	c.(73-75)ctA>ctG	p.L25L	SEMA3D_ENST00000444867.1_Silent_p.L25L	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	25					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TGGTCATGCTTAGCATCATCA	0.333																																					Ovarian(63;442 1191 17318 29975 31528)	uc003uic.2		NaN																	0				ovary(3)|large_intestine(2)	5						c.(73-75)CTA>CTG		semaphorin 3D precursor							105.0	103.0	104.0					7																	84751133		2203	4300	6503	SO:0001819	synonymous_variant	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84751133T>C	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.75A>G	7.37:g.84751133T>C						SEMA3D_uc010led.2_Silent_p.L25L|SEMA3D_uc010lee.1_Silent_p.L25L	p.L25L	NM_152754	NP_689967	O95025	SEM3D_HUMAN			1	115	-			25					A6NK46|Q6UW77|Q8NCQ1	Silent	SNP	ENST00000284136.6	37	c.75A>G	CCDS34676.1																																																																																				0.333	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2		NM_152754		19	31	0	0	0	0.049695	0	19	31		
SVOPL	136306	broad.mit.edu	37	7	138310792	138310792	+	Silent	SNP	G	G	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr7:138310792G>A	ENST00000419765.3	-	12	1218	c.1185C>T	c.(1183-1185)gcC>gcT	p.A395A	SVOPL_ENST00000436657.1_Silent_p.A243A|SNORA40_ENST00000516379.1_RNA|SVOPL_ENST00000421622.1_Silent_p.A275A|SVOPL_ENST00000288513.5_Silent_p.A243A|SVOPL_ENST00000463557.1_5'UTR	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like	395						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						CAATCAGGCCGGCACTAGAAA	0.502																																						uc011kqh.1		NaN																	0					0						c.(1183-1185)GCC>GCT		SVOP-like isoform 1							52.0	53.0	53.0					7																	138310792		2203	4300	6503	SO:0001819	synonymous_variant	136306					integral to membrane	transmembrane transporter activity	g.chr7:138310792G>A	BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703			27034	protein-coding gene	gene with protein product		611700	"""SV2 related protein homolog (rat)-like"""				Standard	NM_001139456		Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870	ENST00000419765.3:c.1185C>T	7.37:g.138310792G>A						SVOPL_uc003vue.2_Silent_p.A243A	p.A395A	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN			12	1185	-			395			Helical; (Potential).			Silent	SNP	ENST00000419765.3	37	c.1185C>T	CCDS47721.1																																																																																				0.502	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342092.4		NM_174959		3	38	0	0	0	0.115264	0	3	38		
CDKN2B	1030	broad.mit.edu	37	9	22006036	22006036	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr9:22006036G>A	ENST00000276925.6	-	2	776	c.367C>T	c.(367-369)Cgg>Tgg	p.R123W	CDKN2B-AS1_ENST00000581051.1_RNA|CDKN2B-AS1_ENST00000584637.1_RNA|CDKN2B-AS1_ENST00000582072.1_RNA|CDKN2B-AS1_ENST00000455933.2_RNA|CDKN2B-AS1_ENST00000584351.1_RNA|CDKN2B-AS1_ENST00000584020.1_RNA|CDKN2B-AS1_ENST00000428597.1_RNA|CDKN2B-AS1_ENST00000585267.1_RNA|CDKN2B-AS1_ENST00000580467.1_RNA|CDKN2B-AS1_ENST00000577551.1_RNA|CDKN2B_ENST00000380142.4_3'UTR|CDKN2B-AS1_ENST00000582301.1_RNA|CDKN2B-AS1_ENST00000584816.1_RNA|CDKN2B-AS1_ENST00000468603.2_RNA|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2B-AS1_ENST00000583719.1_RNA|CDKN2B-AS1_ENST00000580576.1_RNA	NM_004936.3|NM_078487.2	NP_004927.2|NP_511042.1	P42772	CDN2B_HUMAN	cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)	123					aging (GO:0007568)|cell cycle arrest (GO:0007050)|cellular response to extracellular stimulus (GO:0031668)|cellular response to nutrient (GO:0031670)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|liver development (GO:0001889)|megakaryocyte differentiation (GO:0030219)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of phosphorylation (GO:0042326)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to cytokine (GO:0034097)|response to organic cyclic compound (GO:0014070)|spleen development (GO:0048536)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein kinase binding (GO:0019901)	p.0(1)|p.0?(1)		lung(2)	2		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;1.31e-280)|Lung NSC(2;2.28e-131)|all_lung(2;2.11e-123)|Glioma(2;5.66e-57)|all_neural(2;3.05e-50)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;8.01e-33)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00369)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;3.29e-71)|Epithelial(2;9.08e-60)|LUSC - Lung squamous cell carcinoma(2;5.8e-46)|LUAD - Lung adenocarcinoma(2;1.43e-25)|BRCA - Breast invasive adenocarcinoma(2;5.37e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;6.92e-07)|KIRC - Kidney renal clear cell carcinoma(2;8.63e-07)|OV - Ovarian serous cystadenocarcinoma(39;0.014)|COAD - Colon adenocarcinoma(8;0.143)		CGGTGGCCCCGCTCCTCGGCC	0.682																																						uc003zpo.2		NaN																	2	Whole gene deletion(2)		lung(2)	lung(1)	1						c.(367-369)CGG>TGG		cyclin-dependent kinase inhibitor 2B isoform 1							13.0	16.0	15.0					9																	22006036		2186	4268	6454	SO:0001583	missense	1030	Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System			cell cycle arrest|cellular response to nutrient|G1 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|megakaryocyte differentiation|mitotic cell cycle G1/S transition checkpoint|negative regulation of epithelial cell proliferation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	g.chr9:22006036G>A	AB060808	CCDS6512.1, CCDS6513.1	9p21	2008-07-21			ENSG00000147883	ENSG00000147883			1788	protein-coding gene	gene with protein product		600431				8078588	Standard	NM_004936		Approved	P15, MTS2, INK4B, TP15, CDK4I, p15INK4b	uc003zpo.3	P42772	OTTHUMG00000019691	ENST00000276925.6:c.367C>T	9.37:g.22006036G>A	ENSP00000276925:p.Arg123Trp					MTAP_uc003zpi.1_Intron|CDKN2BAS_uc010miw.1_Intron|CDKN2BAS_uc010mix.1_Intron|CDKN2BAS_uc003zpm.2_Intron|CDKN2B_uc003zpn.2_3'UTR	p.R123W	NM_004936	NP_004927	P42772	CDN2B_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;3.29e-71)|Epithelial(2;9.08e-60)|LUSC - Lung squamous cell carcinoma(2;5.8e-46)|LUAD - Lung adenocarcinoma(2;1.43e-25)|BRCA - Breast invasive adenocarcinoma(2;5.37e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;6.92e-07)|KIRC - Kidney renal clear cell carcinoma(2;8.63e-07)|OV - Ovarian serous cystadenocarcinoma(39;0.014)|COAD - Colon adenocarcinoma(8;0.143)	2	727	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;1.31e-280)|Lung NSC(2;2.28e-131)|all_lung(2;2.11e-123)|Glioma(2;5.66e-57)|all_neural(2;3.05e-50)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;8.01e-33)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00369)|Colorectal(97;0.172)	123			ANK 4.		O15125|Q6FI09	Missense_Mutation	SNP	ENST00000276925.6	37	c.367C>T	CCDS6512.1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.612829	0.66672	.	.	ENSG00000147883	ENST00000276925	D	0.93859	-3.3	4.79	1.88	0.25563	Ankyrin repeat-containing domain (4);	0.593943	0.17659	N	0.166398	D	0.91703	0.7377	L	0.39898	1.24	0.80722	D	1	D	0.61697	0.99	P	0.51895	0.683	D	0.89348	0.3659	10	0.72032	D	0.01	-7.8652	10.6727	0.45768	0.0:0.0:0.4927:0.5073	.	123	P42772	CDN2B_HUMAN	W	123	ENSP00000276925:R123W	ENSP00000276925:R123W	R	-	1	2	CDKN2B	21996036	0.000000	0.05858	0.982000	0.44146	0.576000	0.36127	-0.725000	0.04942	0.203000	0.20529	-0.152000	0.13540	CGG		0.682	CDKN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051932.2		NM_004936		6	14	0	0	0	0.038147	0	6	14		
PTPN3	5774	broad.mit.edu	37	9	112145729	112145729	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr9:112145729G>A	ENST00000374541.2	-	23	2460	c.2356C>T	c.(2356-2358)Cga>Tga	p.R786*	PTPN3_ENST00000262539.3_Nonsense_Mutation_p.R632*|PTPN3_ENST00000446349.1_Nonsense_Mutation_p.R610*|PTPN3_ENST00000394827.3_Nonsense_Mutation_p.R254*|PTPN3_ENST00000412145.1_Nonsense_Mutation_p.R655*	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	786	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						AGCATTTCTCGGGACACATAG	0.602																																						uc004bed.2		NaN																	0				ovary(3)	3						c.(2356-2358)CGA>TGA		protein tyrosine phosphatase, non-receptor type							147.0	130.0	136.0					9																	112145729		2203	4300	6503	SO:0001587	stop_gained	5774				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112145729G>A		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.2356C>T	9.37:g.112145729G>A	ENSP00000363667:p.Arg786*					PTPN3_uc004beb.2_Nonsense_Mutation_p.R655*|PTPN3_uc004bec.2_Nonsense_Mutation_p.R610*|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Nonsense_Mutation_p.R741*|PTPN3_uc011lwh.1_Nonsense_Mutation_p.R632*|PTPN3_uc011lwd.1_Nonsense_Mutation_p.R254*|PTPN3_uc011lwe.1_Nonsense_Mutation_p.R499*|PTPN3_uc011lwf.1_Nonsense_Mutation_p.R454*	p.R786*	NM_002829	NP_002820	P26045	PTN3_HUMAN			23	2468	-			786			Tyrosine-protein phosphatase.		A0AUW9|E7EN99|E9PGU7	Nonsense_Mutation	SNP	ENST00000374541.2	37	c.2356C>T	CCDS6776.1	.	.	.	.	.	.	.	.	.	.	G	56	25.159067	0.99964	.	.	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000446349;ENST00000374541;ENST00000394827;ENST00000262539	.	.	.	5.26	4.27	0.50696	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6647	0.56835	0.0:0.0:0.7101:0.2899	.	.	.	.	X	786;655;610;786;254;632	.	ENSP00000262539:R632X	R	-	1	2	PTPN3	111185550	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.585000	0.53943	2.456000	0.83038	0.462000	0.41574	CGA		0.602	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4				45	73	0	0	0	0.117977	0	45	73		
TTF1	7270	broad.mit.edu	37	9	135263551	135263551	+	Missense_Mutation	SNP	G	G	A	rs112758716		TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr9:135263551G>A	ENST00000334270.2	-	8	2326	c.2287C>T	c.(2287-2289)Cgg>Tgg	p.R763W		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	763					chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		ACCTTGGCCCGCAGGGCATTC	0.408																																						uc004cbl.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(2287-2289)CGG>TGG		transcription termination factor, RNA polymerase		G	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	98.0	92.0	94.0		742,2287	5.0	0.7	9	dbSNP_132	94	0,8600		0,0,4300	no	missense,missense	TTF1	NM_001205296.1,NM_007344.3	101,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	248/391,763/906	135263551	1,13005	2203	4300	6503	SO:0001583	missense	7270				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	g.chr9:135263551G>A	BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.2287C>T	9.37:g.135263551G>A	ENSP00000333920:p.Arg763Trp					TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_Missense_Mutation_p.R248W	p.R763W	NM_007344	NP_031370	Q15361	TTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)	8	2339	-		Myeloproliferative disorder(178;0.204)	763					A1L160|Q4VXF3|Q58EY2|Q6P5T5	Missense_Mutation	SNP	ENST00000334270.2	37	c.2287C>T	CCDS6948.1	.	.	.	.	.	.	.	.	.	.	G	9.935	1.215825	0.22373	2.27E-4	0.0	ENSG00000125482	ENST00000334270;ENST00000245588	T	0.11277	2.79	5.9	5.0	0.66597	.	0.874556	0.09981	N	0.730977	T	0.08403	0.0209	N	0.14661	0.345	0.24242	N	0.995351	B	0.13594	0.008	B	0.04013	0.001	T	0.27872	-1.0061	10	0.87932	D	0	.	10.8038	0.46504	0.0858:0.0:0.9142:0.0	.	763	Q15361	TTF1_HUMAN	W	763	ENSP00000333920:R763W	ENSP00000245588:R763W	R	-	1	2	TTF1	134253372	0.843000	0.29541	0.734000	0.30879	0.010000	0.07245	3.682000	0.54656	1.500000	0.48636	0.650000	0.86243	CGG		0.408	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2		NM_007344		3	38	0	0	0	0.115264	0	3	38		
GFI1B	8328	broad.mit.edu	37	9	135866388	135866388	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr9:135866388G>A	ENST00000339463.3	+	11	1763	c.944G>A	c.(943-945)cGc>cAc	p.R315H	GFI1B_ENST00000372122.1_Missense_Mutation_p.R315H|GFI1B_ENST00000372124.1_Missense_Mutation_p.R269H|GFI1B_ENST00000534944.1_Missense_Mutation_p.R269H|GFI1B_ENST00000372123.1_Missense_Mutation_p.R269H|GFI1B_ENST00000450530.1_Missense_Mutation_p.R315H			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	315	Interaction with ARIH2.|Mediates interaction with GATA1.				cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K9 methylation (GO:0051574)|regulation of erythrocyte differentiation (GO:0045646)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II transcription factor binding (GO:0001085)	p.R315H(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		GGCTTCCAGCGCAAGGTGGAC	0.647																																						uc004ccg.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(943-945)CGC>CAC		growth factor independent 1B transcription							91.0	77.0	82.0					9																	135866388		2203	4300	6503	SO:0001583	missense	8328				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding	g.chr9:135866388G>A	AF081946	CCDS6957.1, CCDS48049.1	9q34.13	2014-09-17	2007-10-04		ENSG00000165702	ENSG00000165702		"""Zinc fingers, C2H2-type"""	4238	protein-coding gene	gene with protein product		604383	"""growth factor independent 1B (potential regulator of CDKN1A, translocated in CML)"""			9878267	Standard	NM_001135031		Approved		uc004ccg.3	Q5VTD9	OTTHUMG00000020848	ENST00000339463.3:c.944G>A	9.37:g.135866388G>A	ENSP00000344782:p.Arg315His					GFI1B_uc010mzy.2_Missense_Mutation_p.R269H	p.R315H	NM_004188	NP_004179	Q5VTD9	GFI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)	7	1095	+			315			C2H2-type 6.|Mediates interaction with GATA1.|Interaction with ARIH2.		O95270|Q5VTD8|Q6FHZ2|Q6T888	Missense_Mutation	SNP	ENST00000339463.3	37	c.944G>A	CCDS6957.1	.	.	.	.	.	.	.	.	.	.	G	33	5.203501	0.95033	.	.	ENSG00000165702	ENST00000372124;ENST00000339463;ENST00000450530;ENST00000534944;ENST00000372123;ENST00000372122	T;T;T;T;T;T	0.36157	1.27;2.84;2.84;1.27;1.27;2.84	4.9	4.9	0.64082	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.51991	0.1707	L	0.41632	1.29	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.48822	-0.9001	10	0.42905	T	0.14	-52.9022	17.4238	0.87521	0.0:0.0:1.0:0.0	.	269;315	Q5VTD9-2;Q5VTD9	.;GFI1B_HUMAN	H	269;315;315;269;269;315	ENSP00000361197:R269H;ENSP00000344782:R315H;ENSP00000409546:R315H;ENSP00000446134:R269H;ENSP00000361196:R269H;ENSP00000361195:R315H	ENSP00000344782:R315H	R	+	2	0	GFI1B	134856209	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.009000	0.88606	2.425000	0.82216	0.462000	0.41574	CGC		0.647	GFI1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393840.1		NM_004188		3	53	0	0	0	0.009096	0	3	53		
CACNA1B	774	broad.mit.edu	37	9	140811877	140811877	+	Silent	SNP	C	C	G			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr9:140811877C>G	ENST00000371372.1	+	6	1105	c.960C>G	c.(958-960)ctC>ctG	p.L320L	CACNA1B_ENST00000277551.2_Silent_p.L320L|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371363.1_Silent_p.L320L|CACNA1B_ENST00000371355.4_Silent_p.L320L|CACNA1B_ENST00000371357.1_Silent_p.L320L	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	320					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CTGACATCCTCTATAATGTGA	0.582																																						uc004cog.2		NaN																	0				breast(3)|large_intestine(2)|ovary(1)	6						c.(958-960)CTC>CTG		calcium channel, voltage-dependent, N type,	Amlodipine(DB00381)|Gabapentin(DB00996)						104.0	108.0	107.0					9																	140811877		2155	4277	6432	SO:0001819	synonymous_variant	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140811877C>G	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.960C>G	9.37:g.140811877C>G							p.L320L	NM_000718	NP_000709	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	6	1105	+	all_cancers(76;0.166)		320			I.|Extracellular (Potential).		B1AQK5	Silent	SNP	ENST00000371372.1	37	c.960C>G	CCDS59522.1																																																																																				0.582	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1		NM_000718		27	41	0	0	0	0.144211	0	27	41		
KDM6A	7403	broad.mit.edu	37	X	44870260	44870260	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chrX:44870260C>T	ENST00000377967.4	+	5	480	c.439C>T	c.(439-441)Cag>Tag	p.Q147*	KDM6A_ENST00000382899.4_Nonsense_Mutation_p.Q147*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.Q147*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.Q147*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	147	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0(12)|p.0?(6)|p.?(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TAATGCATTTCAGTGGTAAGT	0.318			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	uc004dge.3		NaN		Rec	yes		X	Xp11.2	7403	D|N|F|S	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			renal|oesophageal SCC|MM		19	No detectable mRNA/protein(12)|Whole gene deletion(6)|Unknown(1)	p.0(2)|p.?(1)	haematopoietic_and_lymphoid_tissue(11)|oesophagus(4)|breast(2)|pancreas(2)	kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						c.(439-441)CAG>TAG		ubiquitously transcribed tetratricopeptide							115.0	97.0	103.0					X																	44870260		2203	4297	6500	SO:0001587	stop_gained	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44870260C>T	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.439C>T	X.37:g.44870260C>T	ENSP00000367203:p.Gln147*					KDM6A_uc010nhk.2_Nonsense_Mutation_p.Q147*|KDM6A_uc011mkz.1_Nonsense_Mutation_p.Q147*|KDM6A_uc011mla.1_Nonsense_Mutation_p.Q147*|KDM6A_uc011mlb.1_Nonsense_Mutation_p.Q147*|KDM6A_uc011mlc.1_5'UTR	p.Q147*	NM_021140	NP_066963	O15550	KDM6A_HUMAN			5	814	+			147			TPR 2.		Q52LL9|Q5JVQ7	Nonsense_Mutation	SNP	ENST00000377967.4	37	c.439C>T	CCDS14265.1	.	.	.	.	.	.	.	.	.	.	C	35	5.535913	0.96460	.	.	ENSG00000147050	ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216;ENST00000542299	.	.	.	5.6	5.6	0.85130	.	0.165687	0.56097	D	0.000036	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-0.37	18.6119	0.91288	0.0:1.0:0.0:0.0	.	.	.	.	X	147	.	ENSP00000367203:Q147X	Q	+	1	0	KDM6A	44755204	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.296000	0.78790	2.338000	0.79540	0.506000	0.49869	CAG		0.318	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1		NM_021140		10	4	0	0	0	0.069234	0	10	4		
ARID1A	8289	broad.mit.edu	37	1	27100151	27100152	+	Frame_Shift_Ins	INS	-	-	G			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08			-	G	-	-		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr1:27100151_27100152insG	ENST00000324856.7	+	16	4318_4319	c.3947_3948insG	c.(3946-3951)tcggggfs	p.SG1316fs	ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.SG1316fs|ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.SG933fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1316					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.M1318fs*163(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AACCCAGACTCGGGGATGTATT	0.589			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1		NaN		Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		1	Deletion - Frameshift(1)	p.M1318fs*163(1)	ovary(1)	ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(3946-3948)TCGfs		AT rich interactive domain 1A isoform a																																				SO:0001589	frameshift_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27100151_27100152insG	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3951dupG	1.37:g.27100155_27100155dupG	ENSP00000320485:p.Ser1316fs					ARID1A_uc001bmt.1_Frame_Shift_Ins_p.S1315fs|ARID1A_uc001bmu.1_Frame_Shift_Ins_p.S1316fs|ARID1A_uc001bmw.1_Frame_Shift_Ins_p.S933fs|ARID1A_uc001bmx.1_Frame_Shift_Ins_p.S162fs|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank	p.S1316fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	16	4320_4321	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1316					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Ins	INS	ENST00000324856.7	37	c.3947_3948insG	CCDS285.1																																																																																				0.589	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2		NM_139135		28	79	NaN	NaN	NaN	NaN	NaN	28	79	---	---
BEST3	144453	broad.mit.edu	37	12	70091534	70091534	+	Frame_Shift_Del	DEL	A	A	-			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr12:70091534delA	ENST00000330891.5	-	2	271	c.45delT	c.(43-45)tttfs	p.F15fs	BEST3_ENST00000551160.1_Intron|BEST3_ENST00000331471.4_Frame_Shift_Del_p.F15fs|BEST3_ENST00000476098.1_Intron|BEST3_ENST00000553096.1_Intron|BEST3_ENST00000266661.4_Intron|BEST3_ENST00000393365.1_5'UTR|BEST3_ENST00000533674.1_Intron	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	15					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TATGAAATCCAAAAAAAGTTG	0.353																																						uc001svg.2		NaN																	0					0						c.(43-45)TTTfs		vitelliform macular dystrophy 2-like 3 isoform							115.0	112.0	113.0					12																	70091534		1824	4090	5914	SO:0001589	frameshift_variant	144453					chloride channel complex|plasma membrane	chloride channel activity	g.chr12:70091534delA	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.45delT	12.37:g.70091534delA	ENSP00000332413:p.Phe15fs					BEST3_uc001svd.1_Frame_Shift_Del_p.F15fs|BEST3_uc001sve.1_Intron|BEST3_uc010stm.1_Intron|BEST3_uc001svh.2_Intron|BEST3_uc001svi.1_Intron	p.F15fs	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)		2	272	-	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		15			Cytoplasmic (Potential).		B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Frame_Shift_Del	DEL	ENST00000330891.5	37	c.45delT	CCDS8992.2																																																																																				0.353	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2		NM_152439		9	2947	NaN	NaN	NaN	NaN	NaN	9	2947	---	---
NAPEPLD	222236	broad.mit.edu	37	7	102760122	102760123	+	Frame_Shift_Ins	INS	-	-	A	rs147416689		TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr7:102760122_102760123insA	ENST00000417955.1	-	3	996_997	c.842_843insT	c.(841-843)ttcfs	p.F281fs	NAPEPLD_ENST00000455523.2_Frame_Shift_Ins_p.F354fs|NAPEPLD_ENST00000427257.1_Frame_Shift_Ins_p.F281fs|NAPEPLD_ENST00000465647.1_Frame_Shift_Ins_p.F281fs|NAPEPLD_ENST00000341533.4_Frame_Shift_Ins_p.F281fs			Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	281				Missing (in Ref. 3; CAI56779). {ECO:0000305}.	phospholipid catabolic process (GO:0009395)	extracellular vesicular exosome (GO:0070062)|photoreceptor outer segment membrane (GO:0042622)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|zinc ion binding (GO:0008270)	p.F281fs*14(1)		endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						TATCTCCTGCGAAAAAAAATCG	0.46																																						uc003vbc.2		NaN																	1	Deletion - Frameshift(1)		ovary(1)	skin(1)	1						c.(841-843)TTCfs		N-acyl phosphatidylethanolamine phospholipase D																																				SO:0001589	frameshift_variant	222236				phospholipid catabolic process	membrane	metal ion binding	g.chr7:102760122_102760123insA	BC037350, AY357337	CCDS5729.1	7q22.1	2014-03-14			ENSG00000161048	ENSG00000161048	3.1.4.54		21683	protein-coding gene	gene with protein product	"""chromosome 7 open reading frame 18, N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D"""	612334				14634025, 15820312, 18067139	Standard	NM_198990		Approved	FMP30, C7orf18, NAPE-PLD	uc003vbd.2	Q6IQ20	OTTHUMG00000157204	ENST00000417955.1:c.843dupT	7.37:g.102760130_102760130dupA	ENSP00000407112:p.Phe281fs					NAPEPLD_uc003vbd.2_Frame_Shift_Ins_p.F281fs|NAPEPLD_uc011klj.1_Frame_Shift_Ins_p.F354fs|NAPEPLD_uc003vbe.2_RNA	p.F281fs	NM_198990	NP_945341	Q6IQ20	NAPEP_HUMAN			3	1170_1171	-			281	Missing (in Ref. 3; CAI56779).				Q5CZ87|Q769K1	Frame_Shift_Ins	INS	ENST00000417955.1	37	c.842_843insT	CCDS5729.1																																																																																				0.460	NAPEPLD-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347904.1		NM_198990		17	56	NaN	NaN	NaN	NaN	NaN	17	56	---	---
