#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
AGRN	375790	broad.mit.edu	37	1	982024	982024	+	Silent	SNP	G	G	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr1:982024G>A	ENST00000379370.2	+	18	3209	c.3159G>A	c.(3157-3159)gtG>gtA	p.V1053V		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1053	Ser/Thr-rich.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CCAGCCTGGTGGCGTCCGCCT	0.687																																						uc001ack.1		NA																	0				central_nervous_system(2)|breast(1)	3						c.(3157-3159)GTG>GTA		agrin precursor							18.0	18.0	18.0					1																	982024		2197	4294	6491	SO:0001819	synonymous_variant	375790				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	g.chr1:982024G>A	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"""Proteoglycans / Extracellular Matrix : Other"""	329	protein-coding gene	gene with protein product	"""agrin proteoglycan"""	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.3159G>A	1.37:g.982024G>A							p.V1053V	NM_198576	NP_940978	O00468	AGRIN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)	18	3209	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	1053			Ser/Thr-rich.		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Silent	SNP	ENST00000379370.2	37	c.3159G>A	CCDS30551.1																																																																																				0.687	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		11	10	0	0	0	0	11	10				
NMNAT1	64802	broad.mit.edu	37	1	10042404	10042404	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr1:10042404C>T	ENST00000377205.1	+	5	629	c.485C>T	c.(484-486)tCc>tTc	p.S162F	RP11-807G9.2_ENST00000413148.1_RNA	NM_022787.3	NP_073624.2	Q9HAN9	NMNA1_HUMAN	nicotinamide nucleotide adenylyltransferase 1	162					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)			large_intestine(2)|lung(2)|stomach(1)	5		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419)		TTATTGGAGTCCTTTGCTGTT	0.478																																						uc001aqp.2		NA																	0					0						c.(484-486)TCC>TTC		nicotinamide mononucleotide adenylyltransferase							116.0	110.0	112.0					1																	10042404		2203	4300	6503	SO:0001583	missense	64802				water-soluble vitamin metabolic process	nucleoplasm	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity|protein binding	g.chr1:10042404C>T	AF312734	CCDS108.1, CCDS72698.1	1p36.22	2014-01-28	2003-04-30	2003-05-02	ENSG00000173614	ENSG00000173614	2.7.7.1		17877	protein-coding gene	gene with protein product		608700	"""nicotinamide nucleotide adenylyltransferase"", ""Leber congenital amaurosis 9"", ""Leber's congenital amaurosis 9"""	LCA9		11248244, 11027696, 22842227	Standard	XR_244792		Approved	NMNAT, PNAT1	uc001aqp.3	Q9HAN9	OTTHUMG00000001799	ENST00000377205.1:c.485C>T	1.37:g.10042404C>T	ENSP00000366410:p.Ser162Phe						p.S162F	NM_022787	NP_073624	Q9HAN9	NMNA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419)	5	629	+		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	162					B1AN63|Q8TAE9|Q9H247|Q9H6B6	Missense_Mutation	SNP	ENST00000377205.1	37	c.485C>T	CCDS108.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.803099	0.90623	.	.	ENSG00000173614	ENST00000377205	D	0.97994	-4.65	5.12	5.12	0.69794	Cytidylyltransferase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.99140	0.9703	H	0.94385	3.53	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99264	1.0891	10	0.87932	D	0	0.0019	18.9958	0.92812	0.0:1.0:0.0:0.0	.	162	Q9HAN9	NMNA1_HUMAN	F	162	ENSP00000366410:S162F	ENSP00000366410:S162F	S	+	2	0	NMNAT1	9964991	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.490000	0.81461	2.549000	0.85964	0.456000	0.33151	TCC		0.478	NMNAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005029.1			24	87	0	0	0	0	24	87				
ZMYM6	9204	broad.mit.edu	37	1	35476586	35476586	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr1:35476586G>A	ENST00000357182.4	-	9	1341	c.1114C>T	c.(1114-1116)Cag>Tag	p.Q372*	ZMYM6_ENST00000373340.2_Nonsense_Mutation_p.Q372*|ZMYM6_ENST00000487874.1_Nonsense_Mutation_p.Q372*|ZMYM6_ENST00000493328.1_5'UTR	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	372					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				ACTTGGCCCTGAGACAGGGGC	0.488																																						uc001byh.2		NA																	0				ovary(3)	3						c.(1114-1116)CAG>TAG		zinc finger protein 258							58.0	58.0	58.0					1																	35476586		2203	4300	6503	SO:0001587	stop_gained	9204				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chr1:35476586G>A	AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"""Zinc fingers, MYM type"", ""Zinc fingers, BED-type"""	13050	protein-coding gene	gene with protein product	"""zinc finger, BED-type containing 7"""	613567	"""zinc finger protein 258"", ""zinc finger, MYM-type containing 6"""	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.1114C>T	1.37:g.35476586G>A	ENSP00000349708:p.Gln372*					ZMYM6_uc001byf.1_Nonsense_Mutation_p.Q372*|ZMYM6_uc010oht.1_Nonsense_Mutation_p.Q275*|ZMYM6_uc009vup.2_Nonsense_Mutation_p.Q178*|ZMYM6_uc009vuq.1_Nonsense_Mutation_p.Q372*|ZMYM6_uc009vur.1_Nonsense_Mutation_p.Q178*	p.Q372*	NM_007167	NP_009098	O95789	ZMYM6_HUMAN			9	1342	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)	372			MYM-type 5.		B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Nonsense_Mutation	SNP	ENST00000357182.4	37	c.1114C>T	CCDS387.2	.	.	.	.	.	.	.	.	.	.	G	37	6.014110	0.97200	.	.	ENSG00000163867	ENST00000373340;ENST00000357182	.	.	.	5.2	5.2	0.72013	.	0.168423	0.52532	D	0.000063	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-0.7122	19.2916	0.94102	0.0:0.0:1.0:0.0	.	.	.	.	X	372	.	ENSP00000349708:Q372X	Q	-	1	0	ZMYM6	35249173	1.000000	0.71417	0.998000	0.56505	0.508000	0.34012	6.712000	0.74681	2.861000	0.98227	0.655000	0.94253	CAG		0.488	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011999.1	NM_007167		12	48	0	0	0	0	12	48				
MYSM1	114803	broad.mit.edu	37	1	59147830	59147830	+	Silent	SNP	G	G	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr1:59147830G>A	ENST00000472487.1	-	8	925	c.886C>T	c.(886-888)Ctg>Ttg	p.L296L	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	296					chromatin remodeling (GO:0006338)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					TCAGTCCACAGTGTAATTTCT	0.363																																						uc009wab.1		NA																	0				skin(1)	1						c.(886-888)CTG>TTG		Myb-like, SWIRM and MPN domains 1							162.0	153.0	156.0					1																	59147830		1830	4080	5910	SO:0001819	synonymous_variant	114803				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:59147830G>A	AB067502	CCDS41343.1	1p32.1	2009-02-11	2009-02-11		ENSG00000162601	ENSG00000162601			29401	protein-coding gene	gene with protein product		612176				11572484, 17428495, 17707232	Standard	NM_001085487		Approved	KIAA1915	uc009wab.2	Q5VVJ2	OTTHUMG00000009533	ENST00000472487.1:c.886C>T	1.37:g.59147830G>A						MYSM1_uc001czc.2_RNA	p.L296L	NM_001085487	NP_001078956	Q5VVJ2	MYSM1_HUMAN			8	909	-	all_cancers(7;9.36e-06)		296					A8KA54|B3KX65|Q68DD3|Q6AI53|Q7Z3G8|Q96PX3	Silent	SNP	ENST00000472487.1	37	c.886C>T	CCDS41343.1																																																																																				0.363	MYSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026343.2	XM_055481		13	109	0	0	0	0	13	109				
NBPF10	100132406	broad.mit.edu	37	1	145293516	145293516	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr1:145293516C>A	ENST00000369339.3	+	3	364	c.111C>A	c.(109-111)aaC>aaA	p.N37K	NBPF10_ENST00000342960.5_Missense_Mutation_p.N37K|NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	308						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGTTCAGAAACCTCAAAGAGA	0.478																																						uc001end.3		NA																	0					0						c.(109-111)AAC>AAA		hypothetical protein LOC100132406																																				SO:0001583	missense	100132406							g.chr1:145293516C>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.111C>A	1.37:g.145293516C>A	ENSP00000358345:p.Asn37Lys					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Missense_Mutation_p.N37K|NOTCH2NL_uc010oyh.1_RNA|NBPF10_uc001emq.1_Missense_Mutation_p.N37K	p.N37K	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	1	146	+	all_hematologic(923;0.032)		37					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369339.3	37	c.111C>A		.	.	.	.	.	.	.	.	.	.	.	6.704	0.498622	0.12762	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.03094	4.05	1.06	1.06	0.20224	.	.	.	.	.	T	0.01800	0.0057	M	0.70595	2.14	0.09310	N	1	B	0.31054	0.306	B	0.30029	0.11	T	0.39702	-0.9601	9	0.52906	T	0.07	.	5.5112	0.16882	0.0:1.0:0.0:0.0	.	37	A8MQ30	.	K	37	ENSP00000345684:N37K	ENSP00000345684:N37K	N	+	3	2	NBPF10	144004873	0.001000	0.12720	0.004000	0.12327	0.005000	0.04900	-0.024000	0.12435	0.869000	0.35703	0.184000	0.17185	AAC		0.478	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		6	480	1	0	1.59e-06	1.74e-06	6	480				
NBPF10	100132406	broad.mit.edu	37	1	145299875	145299875	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr1:145299875C>A	ENST00000369338.1	+	2	301	c.111C>A	c.(109-111)aaC>aaA	p.N37K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000342960.5_Missense_Mutation_p.N308K|RP11-458D21.5_ENST00000468030.1_3'UTR			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	308						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGTTCAGAAACCTCAAAGAGA	0.458																																						uc001end.3		NA																	0					0						c.(922-924)AAC>AAA		hypothetical protein LOC100132406							11.0	14.0	13.0					1																	145299875		689	1570	2259	SO:0001583	missense	100132406							g.chr1:145299875C>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369338.1:c.111C>A	1.37:g.145299875C>A	ENSP00000358344:p.Asn37Lys					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Missense_Mutation_p.N308K|NBPF10_uc010oyi.1_5'Flank|NBPF10_uc001emq.1_Intron	p.N308K	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	6	959	+	all_hematologic(923;0.032)		308					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369338.1	37	c.924C>A		.	.	.	.	.	.	.	.	.	.	.	3.578	-0.086193	0.07097	.	.	ENSG00000163386	ENST00000448873;ENST00000369338;ENST00000369334;ENST00000342960	T;T	0.08896	3.04;4.14	1.05	-1.16	0.09678	.	.	.	.	.	T	0.04724	0.0128	L	0.56769	1.78	0.09310	N	1	P	0.42039	0.769	P	0.49332	0.607	T	0.27839	-1.0062	9	0.42905	T	0.14	.	4.3837	0.11305	0.0:0.5548:0.0:0.4452	.	37	Q86T75-2	.	K	233;37;37;308	ENSP00000358344:N37K;ENSP00000345684:N308K	ENSP00000345684:N308K	N	+	3	2	NBPF10	144011232	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.292000	0.08332	-0.536000	0.06298	-1.477000	0.00996	AAC		0.458	NBPF10-003	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038552.1	NM_001039703		37	369	1	0	6.43e-24	7.81e-24	37	369				
ADIPOR1	51094	broad.mit.edu	37	1	202915728	202915728	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr1:202915728C>T	ENST00000340990.5	-	4	567	c.269G>A	c.(268-270)gGa>gAa	p.G90E	ADIPOR1_ENST00000367254.3_Missense_Mutation_p.G90E|ADIPOR1_ENST00000436244.1_Missense_Mutation_p.G90E	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	90					adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|hormone-mediated signaling pathway (GO:0009755)|leptin-mediated signaling pathway (GO:0033210)|negative regulation of cell growth (GO:0030308)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of JAK-STAT cascade (GO:0046427)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			CCTCCAACGTCCCTCCCAGAC	0.502																																						uc001gyq.3		NA																	0					0						c.(268-270)GGA>GAA		adiponectin receptor 1							167.0	125.0	139.0					1																	202915728		2203	4300	6503	SO:0001583	missense	51094				fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity	g.chr1:202915728C>T		CCDS1430.1	1q32.1	2012-08-22			ENSG00000159346	ENSG00000159346		"""GPCR / Unclassified : Adiponectin receptors"""	24040	protein-coding gene	gene with protein product		607945				12802337	Standard	XM_006711360		Approved	PAQR1, ACDCR1	uc001gyq.5	Q96A54	OTTHUMG00000041391	ENST00000340990.5:c.269G>A	1.37:g.202915728C>T	ENSP00000341785:p.Gly90Glu					ADIPOR1_uc010pqd.1_Missense_Mutation_p.G14E|ADIPOR1_uc001gyr.3_5'UTR|ADIPOR1_uc001gys.3_Missense_Mutation_p.G90E	p.G90E	NM_015999	NP_057083	Q96A54	ADR1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.141)		4	536	-			90			Cytoplasmic (Potential).		B3KMB0|Q53HS7|Q53YY6|Q9Y360	Missense_Mutation	SNP	ENST00000340990.5	37	c.269G>A	CCDS1430.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.208158	0.79240	.	.	ENSG00000159346	ENST00000340990;ENST00000436244;ENST00000417068;ENST00000367254;ENST00000426229	D;D;D;D;D	0.96365	-3.99;-3.99;-3.99;-3.99;-3.99	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.92945	0.7755	N	0.25992	0.78	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	D	0.88218	0.2895	10	0.19147	T	0.46	.	19.4432	0.94831	0.0:1.0:0.0:0.0	.	90	Q96A54	ADR1_HUMAN	E	90	ENSP00000341785:G90E;ENSP00000395469:G90E;ENSP00000402178:G90E;ENSP00000356223:G90E;ENSP00000392946:G90E	ENSP00000341785:G90E	G	-	2	0	ADIPOR1	201182351	1.000000	0.71417	0.992000	0.48379	0.988000	0.76386	7.805000	0.86005	2.941000	0.99782	0.655000	0.94253	GGA		0.502	ADIPOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099160.2	NM_015999		9	44	0	0	0	0	9	44				
OBSCN	84033	broad.mit.edu	37	1	228557643	228557643	+	Splice_Site	SNP	C	C	G			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr1:228557643C>G	ENST00000422127.1	+	91	20012	c.19968C>G	c.(19966-19968)agC>agG	p.S6656R	OBSCN_ENST00000570156.2_Splice_Site_p.S7613R|OBSCN_ENST00000366707.4_Splice_Site_p.S4290R	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6656	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGTCTTCAGCCTGACCTGCT	0.622																																						uc009xez.1		NA																	0				stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(19966-19968)AGC>AGG		obscurin, cytoskeletal calmodulin and							64.0	66.0	65.0					1																	228557643		2032	4192	6224	SO:0001630	splice_region_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228557643C>G	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.19968-1C>G	1.37:g.228557643C>G						OBSCN_uc001hsr.1_Missense_Mutation_p.S1285R	p.S6656R	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			91	20012	+		Prostate(94;0.0405)	6656			Protein kinase 1.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.19968C>G	CCDS58065.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.03|16.03	3.006268|3.006268	0.54361|0.54361	.|.	.|.	ENSG00000154358|ENSG00000154358	ENST00000441106|ENST00000422127;ENST00000366707	.|T;T	.|0.39056	.|1.1;1.1	4.78|4.78	2.74|2.74	0.32292|0.32292	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|.	.|.	.|.	.|.	T|T	0.52741|0.52741	0.1753|0.1753	L|L	0.49126|0.49126	1.545|1.545	0.80722|0.80722	D|D	1|1	.|D	.|0.71674	.|0.998	.|D	.|0.70016	.|0.967	T|T	0.48536|0.48536	-0.9027|-0.9027	5|8	.|.	.|.	.|.	.|.	9.8556|9.8556	0.41084|0.41084	0.0:0.8133:0.0:0.1867|0.0:0.8133:0.0:0.1867	.|.	.|6656	.|Q5VST9	.|OBSCN_HUMAN	A|R	1273|6656;4290	.|ENSP00000409493:S6656R;ENSP00000355668:S4290R	.|.	P|S	+|+	1|3	0|2	OBSCN|OBSCN	226624266|226624266	0.973000|0.973000	0.33851|0.33851	1.000000|1.000000	0.80357|0.80357	0.684000|0.684000	0.39900|0.39900	0.278000|0.278000	0.18753|0.18753	1.241000|1.241000	0.43820|0.43820	0.455000|0.455000	0.32223|0.32223	CCT|AGC		0.622	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	Missense_Mutation	45	36	0	0	0	0	45	36				
BMI1	648	broad.mit.edu	37	10	22618334	22618334	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr10:22618334C>A	ENST00000376663.3	+	10	1349	c.844C>A	c.(844-846)Cct>Act	p.P282T	RP11-573G6.9_ENST00000606988.1_lincRNA|COMMD3-BMI1_ENST00000602390.1_Missense_Mutation_p.P425T	NM_005180.8	NP_005171.4	P35226	BMI1_HUMAN	BMI1 proto-oncogene, polycomb ring finger	282	Pro/Ser-rich.				chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|regulation of gene expression (GO:0010468)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|ubiquitin ligase complex (GO:0000151)	RING-like zinc finger domain binding (GO:0071535)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						AGTGCAGTCTCCTCATCCACA	0.507																																						uc001irh.2		NA																	0				ovary(1)|skin(1)	2						c.(844-846)CCT>ACT		BMI1 polycomb ring finger oncogene							167.0	151.0	156.0					10																	22618334		2203	4300	6503	SO:0001583	missense	648				hemopoiesis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fibroblast proliferation|positive regulation of ubiquitin-protein ligase activity|segment specification|transcription, DNA-dependent	cytoplasm|nucleolus|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding	g.chr10:22618334C>A	BC011652	CCDS7138.1	10p13	2014-06-26	2014-06-26	2006-04-26	ENSG00000168283	ENSG00000168283		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	1066	protein-coding gene	gene with protein product		164831	"""polycomb group ring finger 4"", ""B lymphoma Mo-MLV insertion region 1 homolog (mouse)"""	PCGF4		8268912	Standard	NM_005180		Approved	RNF51		P35226	OTTHUMG00000017807	ENST00000376663.3:c.844C>A	10.37:g.22618334C>A	ENSP00000365851:p.Pro282Thr					BMI1_uc009xkg.2_Missense_Mutation_p.P425T	p.P282T	NM_005180	NP_005171	P35226	BMI1_HUMAN			10	1483	+			282			Pro/Ser-rich.		Q16030|Q5T8Z3|Q96F37	Missense_Mutation	SNP	ENST00000376663.3	37	c.844C>A	CCDS7138.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.662718	0.29515	.	.	ENSG00000168283	ENST00000376691;ENST00000376663	T	0.34072	1.38	5.58	5.58	0.84498	.	0.111433	0.64402	D	0.000009	T	0.26048	0.0635	N	0.12182	0.205	0.49687	D	0.99981	B;B	0.11235	0.004;0.004	B;B	0.08055	0.003;0.003	T	0.03524	-1.1028	10	0.41790	T	0.15	-4.4865	19.1861	0.93644	0.0:1.0:0.0:0.0	.	282;282	Q5U0M5;P35226	.;BMI1_HUMAN	T	194;282	ENSP00000365851:P282T	ENSP00000365851:P282T	P	+	1	0	BMI1	22658340	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.713000	0.68415	2.638000	0.89438	0.650000	0.86243	CCT		0.507	BMI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047176.1	NM_005180		25	79	1	0	2.45e-14	2.92e-14	25	79				
ANKRD26	22852	broad.mit.edu	37	10	27326225	27326225	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr10:27326225T>A	ENST00000376087.4	-	23	2752	c.2587A>T	c.(2587-2589)Agg>Tgg	p.R863W	ANKRD26_ENST00000376070.3_Missense_Mutation_p.R420W|ANKRD26_ENST00000436985.2_Missense_Mutation_p.R879W	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	862					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						GAAAGTTGCCTCTGAGCGTCA	0.358																																						uc001ith.2		NA																	0				large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						c.(2584-2586)AGG>TGG		ankyrin repeat domain 26							161.0	142.0	148.0					10																	27326225		1832	4076	5908	SO:0001583	missense	22852					centrosome		g.chr10:27326225T>A	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.2587A>T	10.37:g.27326225T>A	ENSP00000365255:p.Arg863Trp					ANKRD26_uc001itg.2_Missense_Mutation_p.R549W|ANKRD26_uc009xku.1_Missense_Mutation_p.R863W	p.R862W	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN			23	2756	-			862			Potential.		A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	c.2584A>T	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.092486	0.76756	.	.	ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985	T;T;T	0.20332	2.08;2.08;2.08	5.29	2.85	0.33270	.	0.100545	0.40818	U	0.001009	T	0.34687	0.0906	L	0.59436	1.845	0.42839	D	0.994045	P;B;D	0.76494	0.524;0.389;0.999	B;B;D	0.66602	0.322;0.171;0.945	T	0.05767	-1.0865	10	0.87932	D	0	.	6.0565	0.19815	0.1623:0.0:0.1696:0.668	.	863;862;879	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	W	420;863;879	ENSP00000365238:R420W;ENSP00000365255:R863W;ENSP00000405112:R879W	ENSP00000365238:R420W	R	-	1	2	ANKRD26	27366231	1.000000	0.71417	0.984000	0.44739	0.998000	0.95712	2.527000	0.45615	0.278000	0.22164	0.477000	0.44152	AGG		0.358	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			42	121	0	0	0	0	42	121				
PTCHD3	374308	broad.mit.edu	37	10	27702586	27702586	+	Silent	SNP	G	G	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr10:27702586G>A	ENST00000438700.3	-	1	711	c.594C>T	c.(592-594)tcC>tcT	p.S198S		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	198					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TCCTGGAGGCGGAGAAGCGGT	0.602																																						uc001itu.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(592-594)TCC>TCT		patched domain containing 3							65.0	70.0	68.0					10																	27702586		2203	4300	6503	SO:0001819	synonymous_variant	374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27702586G>A	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.594C>T	10.37:g.27702586G>A							p.S198S	NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN			1	712	-			198					I3L499|Q6ZU28	Silent	SNP	ENST00000438700.3	37	c.594C>T	CCDS31173.1																																																																																				0.602	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		4	131	0	0	0	0	4	131				
MYOF	26509	broad.mit.edu	37	10	95069804	95069804	+	Silent	SNP	G	G	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr10:95069804G>A	ENST00000359263.4	-	53	6119	c.6120C>T	c.(6118-6120)ttC>ttT	p.F2040F	MYOF_ENST00000371501.4_Silent_p.F2040F|MYOF_ENST00000358334.5_Silent_p.F2027F|MYOF_ENST00000371502.4_Silent_p.F2030F	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	2040					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GCACGGCCACGAAGAGCAGCA	0.552																																						uc001kin.2		NA																	0				ovary(3)|breast(1)	4						c.(6118-6120)TTC>TTT		myoferlin isoform a							68.0	75.0	73.0					10																	95069804		2171	4279	6450	SO:0001819	synonymous_variant	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95069804G>A	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.6120C>T	10.37:g.95069804G>A						MYOF_uc001kio.2_Silent_p.F2027F|MYOF_uc009xue.2_RNA	p.F2040F	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN			53	6243	-			2040			Helical; (Potential).		B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Silent	SNP	ENST00000359263.4	37	c.6120C>T	CCDS41551.1																																																																																				0.552	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		5	30	0	0	0	0	5	30				
GSTO1	9446	broad.mit.edu	37	10	106027062	106027062	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr10:106027062G>A	ENST00000369713.5	+	6	819	c.625G>A	c.(625-627)Gat>Aat	p.D209N	GSTO1_ENST00000369710.4_Missense_Mutation_p.D176N|GSTO1_ENST00000539281.1_Missense_Mutation_p.D181N|GSTO2_ENST00000338595.2_5'Flank|MIR4482-1_ENST00000583050.1_RNA|GSTO2_ENST00000450629.2_5'Flank	NM_004832.2	NP_004823.1	P78417	GSTO1_HUMAN	glutathione S-transferase omega 1	209	GST C-terminal.				cellular response to arsenic-containing substance (GO:0071243)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014810)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione dehydrogenase (ascorbate) activity (GO:0045174)|glutathione transferase activity (GO:0004364)|methylarsonate reductase activity (GO:0050610)|oxidoreductase activity (GO:0016491)			large_intestine(1)|lung(1)|stomach(1)	3		Colorectal(252;0.102)|Breast(234;0.122)		Epithelial(162;8.07e-10)|all cancers(201;2.72e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0147)	Glutathione(DB00143)|Vitamin E(DB00163)	CATGAAGGAAGATCCCACAGT	0.493																																						uc001kya.2		NA																	0					0						c.(625-627)GAT>AAT		glutathione-S-transferase omega 1	Glutathione(DB00143)						85.0	73.0	77.0					10																	106027062		2203	4300	6503	SO:0001583	missense	9446				xenobiotic metabolic process	cytosol	glutathione transferase activity|monodehydroascorbate reductase (NADH) activity	g.chr10:106027062G>A	AF212303	CCDS7555.1, CCDS53572.1, CCDS53573.1	10q25.1	2012-06-21			ENSG00000148834	ENSG00000148834	2.5.1.18, 1.8.5.1, 1.20.4.2	"""Glutathione S-transferases / Soluble"""	13312	protein-coding gene	gene with protein product		605482				10783391, 12618591	Standard	NM_004832		Approved	GSTTLp28, P28	uc001kya.3	P78417	OTTHUMG00000019001	ENST00000369713.5:c.625G>A	10.37:g.106027062G>A	ENSP00000358727:p.Asp209Asn					GSTO2_uc001kyb.2_5'Flank	p.D209N	NM_004832	NP_004823	P78417	GSTO1_HUMAN		Epithelial(162;8.07e-10)|all cancers(201;2.72e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0147)	6	634	+		Colorectal(252;0.102)|Breast(234;0.122)	209			GST C-terminal.		D3DRA3|F5H7H0|Q5TA03|Q7Z3T2	Missense_Mutation	SNP	ENST00000369713.5	37	c.625G>A	CCDS7555.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.886006	0.91814	.	.	ENSG00000148834	ENST00000539281;ENST00000369710;ENST00000369713;ENST00000445155;ENST00000432659	T;T;T;T;T	0.01963	4.53;4.53;4.53;4.53;4.53	4.95	4.95	0.65309	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.048863	0.85682	D	0.000000	T	0.11110	0.0271	M	0.81239	2.535	0.80722	D	1	D	0.55605	0.972	P	0.58391	0.838	T	0.06570	-1.0819	10	0.31617	T	0.26	-27.907	17.9653	0.89098	0.0:0.0:1.0:0.0	.	209	P78417	GSTO1_HUMAN	N	181;176;209;181;148	ENSP00000441488:D181N;ENSP00000358724:D176N;ENSP00000358727:D209N;ENSP00000406708:D181N;ENSP00000405325:D148N	ENSP00000358724:D176N	D	+	1	0	GSTO1	106017052	1.000000	0.71417	0.837000	0.33122	0.951000	0.60555	7.117000	0.77129	2.582000	0.87167	0.591000	0.81541	GAT		0.493	GSTO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050193.1	NM_004832		15	30	0	0	0	0	15	30				
SHOC2	8036	broad.mit.edu	37	10	112724421	112724421	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr10:112724421C>G	ENST00000369452.4	+	2	650	c.305C>G	c.(304-306)tCa>tGa	p.S102*	SHOC2_ENST00000265277.5_Nonsense_Mutation_p.S102*|SHOC2_ENST00000489390.1_Intron	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	102					fibroblast growth factor receptor signaling pathway (GO:0008543)|positive regulation of Ras protein signal transduction (GO:0046579)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase binding (GO:0019903)|protein phosphatase regulator activity (GO:0019888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		GAAGAGAATTCAATGCGTTTG	0.383																																						uc001kzl.3		NA																	0				ovary(1)|skin(1)	2						c.(304-306)TCA>TGA		soc-2 suppressor of clear homolog							86.0	84.0	85.0					10																	112724421		2203	4300	6503	SO:0001587	stop_gained	8036				fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity	g.chr10:112724421C>G	AB020669	CCDS7568.1, CCDS58095.1	10q25	2014-09-17	2001-11-28		ENSG00000108061	ENSG00000108061			15454	protein-coding gene	gene with protein product		602775	"""soc-2 (suppressor of clear, C.elegans) homolog"""			9618511, 9674433, 10783161	Standard	NM_007373		Approved	KIAA0862, SOC2, SUR-8, SOC-2, SUR8	uc001kzl.4	Q9UQ13	OTTHUMG00000019047	ENST00000369452.4:c.305C>G	10.37:g.112724421C>G	ENSP00000358464:p.Ser102*					SHOC2_uc009xxx.2_Nonsense_Mutation_p.S102*|SHOC2_uc010qrg.1_Intron|SHOC2_uc001kzn.2_Nonsense_Mutation_p.S102*	p.S102*	NM_007373	NP_031399	Q9UQ13	SHOC2_HUMAN		Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)	2	654	+			102			LRR 1.		A8K9W8|B3KR23|O76063|Q5VZS8|Q5VZS9	Nonsense_Mutation	SNP	ENST00000369452.4	37	c.305C>G	CCDS7568.1	.	.	.	.	.	.	.	.	.	.	C	38	7.106531	0.98066	.	.	ENSG00000108061	ENST00000265277;ENST00000369452	.	.	.	5.75	5.75	0.90469	.	0.119589	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.9522	0.97203	0.0:1.0:0.0:0.0	.	.	.	.	X	102	.	ENSP00000265277:S102X	S	+	2	0	SHOC2	112714411	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.818000	0.86416	2.725000	0.93324	0.655000	0.94253	TCA		0.383	SHOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050355.1	NM_007373		16	63	0	0	0	0	16	63				
TRIM68	55128	broad.mit.edu	37	11	4626315	4626315	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr11:4626315C>G	ENST00000300747.5	-	2	709	c.420G>C	c.(418-420)gaG>gaC	p.E140D		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	140					protein autoubiquitination (GO:0051865)|regulation of androgen receptor signaling pathway (GO:0060765)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|histone acetyltransferase binding (GO:0035035)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		TCACCTTGTACTCCCAGGCAA	0.547																																						uc001lzf.1		NA																	0				ovary(1)	1						c.(418-420)GAG>GAC		ring finger protein 137							77.0	66.0	70.0					11																	4626315		2201	4298	6499	SO:0001583	missense	55128				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:4626315C>G	AF360739	CCDS31356.1	11p15.4	2013-01-09	2011-01-25	2004-11-17		ENSG00000167333		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21161	protein-coding gene	gene with protein product		613184	"""ring finger protein 137"", ""tripartite motif-containing 68"""	RNF137		11597395	Standard	NM_018073		Approved	SS-56, FLJ10369	uc001lzf.2	Q6AZZ1		ENST00000300747.5:c.420G>C	11.37:g.4626315C>G	ENSP00000300747:p.Glu140Asp					TRIM68_uc001lzg.1_5'UTR|TRIM68_uc010qyj.1_Intron|TRIM68_uc009yek.1_Missense_Mutation_p.E140D	p.E140D	NM_018073	NP_060543	Q6AZZ1	TRI68_HUMAN		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)	2	658	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	140					A6NI19|A8K551|B3KPM5|B4DVK4|Q8WZ70|Q96LE5|Q96PF7|Q9H9C2|Q9NW18	Missense_Mutation	SNP	ENST00000300747.5	37	c.420G>C	CCDS31356.1	.	.	.	.	.	.	.	.	.	.	C	8.805	0.933831	0.18206	.	.	ENSG00000167333	ENST00000300747;ENST00000533021	T;T	0.58060	0.36;0.36	4.67	-5.47	0.02600	.	0.308172	0.23787	N	0.044578	T	0.29556	0.0737	L	0.33753	1.03	0.25469	N	0.987843	B;B	0.11235	0.004;0.001	B;B	0.12837	0.003;0.008	T	0.05550	-1.0878	10	0.34782	T	0.22	.	4.0771	0.09909	0.1281:0.1591:0.1153:0.5976	.	140;140	E9PR29;Q6AZZ1	.;TRI68_HUMAN	D	140	ENSP00000300747:E140D;ENSP00000436112:E140D	ENSP00000300747:E140D	E	-	3	2	TRIM68	4582891	0.001000	0.12720	0.426000	0.26672	0.507000	0.33981	-2.445000	0.01011	-1.017000	0.03367	0.549000	0.68633	GAG		0.547	TRIM68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385948.1	NM_018073		5	29	0	0	0	0	5	29				
KLRC4	8302	broad.mit.edu	37	12	10560266	10560266	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr12:10560266T>C	ENST00000309384.1	-	4	644	c.463A>G	c.(463-465)Atc>Gtc	p.I155V	KLRC4-KLRK1_ENST00000539300.1_Missense_Mutation_p.D146G	NM_013431.2	NP_038459.1	O43908	NKG2F_HUMAN	killer cell lectin-like receptor subfamily C, member 4	155					cellular defense response (GO:0006968)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						AGAAAGCAGATCAGAGTTCTT	0.343																																						uc001qye.2		NA																	0					0						c.(463-465)ATC>GTC		killer cell lectin-like receptor subfamily C,							156.0	160.0	159.0					12																	10560266		2203	4300	6503	SO:0001583	missense	8302				cellular defense response	integral to membrane	binding|receptor activity	g.chr12:10560266T>C	U96846	CCDS8624.1	12p13.2-p12.3	2008-08-05			ENSG00000183542	ENSG00000183542		"""Killer cell lectin-like receptors"""	6377	protein-coding gene	gene with protein product		602893				9598306	Standard	NM_013431		Approved	NKG2-F	uc001qye.3	O43908	OTTHUMG00000168575	ENST00000309384.1:c.463A>G	12.37:g.10560266T>C	ENSP00000310216:p.Ile155Val					KLRK1_uc001qyc.2_5'UTR|KLRK1_uc009zhk.2_5'UTR|KLRK1_uc001qyd.2_5'UTR	p.I155V	NM_013431	NP_038459	O43908	NKG2F_HUMAN			4	645	-			155			Extracellular (Potential).		O60851	Missense_Mutation	SNP	ENST00000309384.1	37	c.463A>G	CCDS8624.1	.	.	.	.	.	.	.	.	.	.	T	2.073	-0.412613	0.04799	.	.	ENSG00000183542	ENST00000309384	T	0.03441	3.93	4.1	-7.31	0.01441	.	0.622312	0.13430	N	0.388493	T	0.01189	0.0039	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43540	-0.9385	10	0.66056	D	0.02	.	4.9916	0.14216	0.1147:0.507:0.1158:0.2625	.	155	O43908	NKG2F_HUMAN	V	155	ENSP00000310216:I155V	ENSP00000310216:I155V	I	-	1	0	KLRC4	10451533	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.008000	0.01456	-2.037000	0.00920	-2.780000	0.00118	ATC		0.343	KLRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400108.1	NM_013431		56	109	0	0	0	0	56	109				
KMT2D	8085	broad.mit.edu	37	12	49428364	49428364	+	Splice_Site	SNP	C	C	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr12:49428364C>T	ENST00000301067.7	-	36	10440		c.e36+1		KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D						chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TGACCACTTACCTGGCCACTC	0.562																																						uc001rta.3		NA								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.e36+1		myeloid/lymphoid or mixed-lineage leukemia 2																																				SO:0001630	splice_region_variant	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49428364C>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.10440+1G>A	12.37:g.49428364C>T		HNSCC(34;0.089)					p.Q3480_splice	NM_003482	NP_003473	O14686	MLL2_HUMAN			36	10440	-								O14687	Splice_Site	SNP	ENST00000301067.7	37	c.10440_splice	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.058832	0.76074	.	.	ENSG00000167548	ENST00000301067	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1649	0.81747	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MLL2	47714631	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.349000	0.73013	2.779000	0.95612	0.655000	0.94253	.		0.562	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2		Intron	4	11	0	0	0	0	4	11				
KCNH3	23416	broad.mit.edu	37	12	49934900	49934900	+	Silent	SNP	C	C	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr12:49934900C>T	ENST00000257981.6	+	2	555	c.295C>T	c.(295-297)Ctg>Ttg	p.L99L	KCNH3_ENST00000550434.1_3'UTR	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	99	PAC. {ECO:0000255|PROSITE- ProRule:PRU00141}.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						TGAGCTGATCCTGTACCGGAA	0.622																																						uc001ruh.1		NA																	0					0						c.(295-297)CTG>TTG		potassium voltage-gated channel, subfamily H							35.0	34.0	35.0					12																	49934900		2203	4300	6503	SO:0001819	synonymous_variant	23416				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	g.chr12:49934900C>T	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.295C>T	12.37:g.49934900C>T						KCNH3_uc010smj.1_Silent_p.L39L	p.L99L	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN			2	555	+			99			PAC.|Cytoplasmic (Potential).		Q9UQ06	Silent	SNP	ENST00000257981.6	37	c.295C>T	CCDS8786.1																																																																																				0.622	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284		5	45	0	0	0	0	5	45				
PA2G4	5036	broad.mit.edu	37	12	56504208	56504208	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr12:56504208G>A	ENST00000303305.6	+	8	1074	c.655G>A	c.(655-657)Gag>Aag	p.E219K	RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Missense_Mutation_p.E219K	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	219					cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of translation (GO:0006417)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			AGCTGAATTTGAGGTACATGA	0.443																																						uc001sjm.2		NA																	0					0						c.(655-657)GAG>AAG		ErbB3-binding protein 1							84.0	80.0	82.0					12																	56504208		2203	4300	6503	SO:0001583	missense	5036				cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding	g.chr12:56504208G>A	U59435, BC007561	CCDS8902.1	12q13.2	2008-09-05	2002-08-29		ENSG00000170515	ENSG00000170515			8550	protein-coding gene	gene with protein product		602145	"""proliferation-associated 2G4, 38kD"""			9345902	Standard	NM_006191		Approved		uc001sjm.3	Q9UQ80	OTTHUMG00000170173	ENST00000303305.6:c.655G>A	12.37:g.56504208G>A	ENSP00000302886:p.Glu219Lys					PA2G4_uc009zol.2_Missense_Mutation_p.E219K|PA2G4_uc009zom.2_Missense_Mutation_p.E219K	p.E219K	NM_006191	NP_006182	Q9UQ80	PA2G4_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.0739)		8	1074	+			219					O43846|Q9UM59	Missense_Mutation	SNP	ENST00000303305.6	37	c.655G>A	CCDS8902.1	.	.	.	.	.	.	.	.	.	.	G	34	5.296838	0.95574	.	.	ENSG00000170515	ENST00000303305;ENST00000552766;ENST00000417031;ENST00000546435;ENST00000548711	T;T	0.78246	-1.16;-1.16	5.07	5.07	0.68467	Peptidase M24, structural domain (3);	0.045645	0.85682	D	0.000000	D	0.83603	0.5290	M	0.75085	2.285	0.80722	D	1	P;P;P	0.39391	0.519;0.62;0.671	B;B;P	0.47528	0.074;0.413;0.549	D	0.85539	0.1214	10	0.66056	D	0.02	.	17.5857	0.87981	0.0:0.0:1.0:0.0	.	219;219;219	F8VRZ3;F8VTY8;Q9UQ80	.;.;PA2G4_HUMAN	K	219;219;248;219;219	ENSP00000302886:E219K;ENSP00000448557:E219K	ENSP00000302886:E219K	E	+	1	0	PA2G4	54790475	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.401000	0.97294	2.523000	0.85059	0.585000	0.79938	GAG		0.443	PA2G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407767.1	NM_006191		7	55	0	0	0	0	7	55				
ZFC3H1	196441	broad.mit.edu	37	12	72056924	72056924	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr12:72056924C>A	ENST00000378743.3	-	1	825	c.467G>T	c.(466-468)cGc>cTc	p.R156L	ZFC3H1_ENST00000552037.1_Missense_Mutation_p.R156L|ZFC3H1_ENST00000548100.1_Missense_Mutation_p.R156L|THAP2_ENST00000547843.1_5'Flank|THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000549407.1_5'UTR	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	156					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CCGACTCCAGCGACTCCCACC	0.667																																						uc001swo.2		NA																	0				ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(466-468)CGC>CTC		proline/serine-rich coiled-coil 2							62.0	73.0	69.0					12																	72056924		1989	4142	6131	SO:0001583	missense	196441				RNA processing	intracellular	metal ion binding	g.chr12:72056924C>A	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.467G>T	12.37:g.72056924C>A	ENSP00000368017:p.Arg156Leu					ZFC3H1_uc010sts.1_Missense_Mutation_p.R156L|ZFC3H1_uc001swp.2_Missense_Mutation_p.R156L|THAP2_uc001swq.2_5'Flank	p.R156L	NM_144982	NP_659419	O60293	ZC3H1_HUMAN			1	826	-			156					Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	c.467G>T	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.804073	0.50315	.	.	ENSG00000133858	ENST00000378743;ENST00000548100;ENST00000552037	T	0.32272	1.46	4.29	4.29	0.51040	.	0.288957	0.28766	N	0.014212	T	0.28034	0.0691	N	0.14661	0.345	0.80722	D	1	D;D;P	0.59767	0.986;0.986;0.919	P;P;B	0.57846	0.828;0.693;0.257	T	0.01874	-1.1256	10	0.10902	T	0.67	.	12.4267	0.55551	0.1677:0.8323:0.0:0.0	.	156;156;156	G3V1X1;O60293-4;O60293	.;.;ZC3H1_HUMAN	L	156	ENSP00000368017:R156L	ENSP00000368017:R156L	R	-	2	0	ZFC3H1	70343191	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.453000	0.52978	2.384000	0.81235	0.650000	0.86243	CGC		0.667	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		13	126	1	0	0.000308642	0.000324829	13	126				
OAS3	4940	broad.mit.edu	37	12	113388618	113388618	+	Missense_Mutation	SNP	G	G	A	rs199505039		TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr12:113388618G>A	ENST00000228928.7	+	7	1674	c.1495G>A	c.(1495-1497)Gag>Aag	p.E499K	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	499	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						GATCCTTGATGAGATGCGAGC	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		20060	0.0		0.001	False		,,,				2504	0.0					uc001tug.2		NA																	0				central_nervous_system(1)	1						c.(1495-1497)GAG>AAG		2'-5'oligoadenylate synthetase 3		G	LYS/GLU	0,3938		0,0,1969	78.0	85.0	83.0		1495	4.3	0.0	12		83	4,8280		0,4,4138	yes	missense	OAS3	NM_006187.2	56	0,4,6107	AA,AG,GG		0.0483,0.0,0.0327	possibly-damaging	499/1088	113388618	4,12218	1969	4142	6111	SO:0001583	missense	4940				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113388618G>A	AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"""2'-5'-oligoadenylate synthetase 3 (100 kD)"""			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.1495G>A	12.37:g.113388618G>A	ENSP00000228928:p.Glu499Lys						p.E499K	NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN			7	1582	+			499			OAS domain 2.		Q2HJ14|Q9H3P5	Missense_Mutation	SNP	ENST00000228928.7	37	c.1495G>A	CCDS44981.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	14.72	2.620389	0.46736	0.0	4.83E-4	ENSG00000111331	ENST00000228928;ENST00000323881	T	0.09911	2.93	4.26	4.26	0.50523	2-5-oligoadenylate synthetase, N-terminal (1);	.	.	.	.	T	0.11965	0.0291	L	0.54965	1.715	0.45837	D	0.998704	B	0.18310	0.027	B	0.15870	0.014	T	0.04495	-1.0947	9	0.33141	T	0.24	.	12.0286	0.53386	0.0:0.0:1.0:0.0	.	499	Q9Y6K5	OAS3_HUMAN	K	499;498	ENSP00000228928:E499K	ENSP00000228928:E499K	E	+	1	0	OAS3	111873001	0.767000	0.28508	0.011000	0.14972	0.420000	0.31355	4.068000	0.57534	2.196000	0.70406	0.655000	0.94253	GAG		0.572	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1			32	55	0	0	0	0	32	55				
N4BP2L2	10443	broad.mit.edu	37	13	33017607	33017607	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr13:33017607T>A	ENST00000504114.1	-	6	1113	c.1022A>T	c.(1021-1023)tAt>tTt	p.Y341F	N4BP2L2_ENST00000399396.3_Missense_Mutation_p.Y356F|N4BP2L2_ENST00000357505.6_Missense_Mutation_p.Y341F|N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000380121.3_5'UTR			Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	0					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)			kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		TTTAGTTGTATACACTTGTTC	0.378																																						uc010abe.1		NA																	0					0						c.(1066-1068)TAT>TTT		phosphonoformate immuno-associated protein 5							36.0	34.0	35.0					13																	33017607		1826	4078	5904	SO:0001583	missense	10443							g.chr13:33017607T>A	U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"""phosphonoformate immuno-associated protein 5"""	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000504114.1:c.1022A>T	13.37:g.33017607T>A	ENSP00000427477:p.Tyr341Phe					N4BP2L2_uc001uug.2_Missense_Mutation_p.Y239F|N4BP2L2_uc010abd.1_Missense_Mutation_p.Y269F|N4BP2L2_uc001uuh.2_Missense_Mutation_p.Y187F|N4BP2L2_uc001uuj.2_Intron|N4BP2L2_uc010tdz.1_Missense_Mutation_p.Y341F	p.Y356F	NM_033111	NP_149102	Q92802	N42L2_HUMAN		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)	7	1089	-		Lung SC(185;0.0262)	Error:Variant_position_missing_in_Q92802_after_alignment					A3KME8	Missense_Mutation	SNP	ENST00000504114.1	37	c.1067A>T		.	.	.	.	.	.	.	.	.	.	T	11.50	1.657288	0.29425	.	.	ENSG00000139617;ENSG00000139617;ENSG00000244754;ENSG00000244754;ENSG00000244754	ENST00000380121;ENST00000503296;ENST00000504114;ENST00000357505;ENST00000399396	.	.	.	5.1	-0.0101	0.13998	.	1.732250	0.02524	N	0.092876	T	0.23370	0.0565	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.33135	0.399;0.399;0.399;0.399	B;B;B;B	0.31686	0.134;0.134;0.092;0.092	T	0.18871	-1.0323	9	0.66056	D	0.02	-1.301	1.4527	0.02378	0.1417:0.1579:0.1477:0.5527	.	341;356;239;239	B4DPY1;Q92802-3;Q96KV2;Q9Y3H6	.;.;.;.	F	239;268;341;341;356	.	ENSP00000350104:Y341F	Y	-	2	0	N4BP2L2;RP11-298P3.4	31915607	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.935000	0.28924	0.000000	0.14550	-1.156000	0.01807	TAT		0.378	N4BP2L2-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000361380.1	NM_014887		6	18	0	0	0	0	6	18				
MYCBP2	23077	broad.mit.edu	37	13	77751900	77751900	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr13:77751900C>T	ENST00000544440.2	-	35	5226	c.5209G>A	c.(5209-5211)Gag>Aag	p.E1737K	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.E1737K|MYCBP2_ENST00000407578.2_Missense_Mutation_p.E1775K					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ACCAACACCTCTAATTCATAT	0.398																																						uc001vkf.2		NA																	0				ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(5209-5211)GAG>AAG		MYC binding protein 2							102.0	82.0	89.0					13																	77751900		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77751900C>T	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.5209G>A	13.37:g.77751900C>T	ENSP00000444596:p.Glu1737Lys					MYCBP2_uc010aev.2_Missense_Mutation_p.E1141K	p.E1737K	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	36	5300	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	1737						Missense_Mutation	SNP	ENST00000544440.2	37	c.5209G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.513307	0.96402	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.38887	1.12;1.11;1.12	5.72	5.72	0.89469	PHR (1);	0.000000	0.85682	D	0.000000	T	0.58018	0.2093	L	0.35723	1.085	0.80722	D	1	D	0.63046	0.992	D	0.76575	0.988	T	0.55490	-0.8133	10	0.54805	T	0.06	.	20.2406	0.98372	0.0:1.0:0.0:0.0	.	1737	O75592	MYCB2_HUMAN	K	1737;1775;1737	ENSP00000349892:E1737K;ENSP00000384288:E1775K;ENSP00000444596:E1737K	ENSP00000349892:E1737K	E	-	1	0	MYCBP2	76649901	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.776000	0.85560	2.857000	0.98124	0.650000	0.86243	GAG		0.398	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		20	16	0	0	0	0	20	16				
ARHGEF40	55701	broad.mit.edu	37	14	21543067	21543067	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr14:21543067G>T	ENST00000298694.4	+	3	1305	c.1178G>T	c.(1177-1179)cGa>cTa	p.R393L	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.R393L			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	393	Gly-rich.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						GCTCTTAGCCGAGGAGGGGAC	0.607																																						uc001vzp.2		NA																	0					0						c.(1177-1179)CGA>CTA		hypothetical protein LOC55701							83.0	73.0	77.0					14																	21543067		2203	4300	6503	SO:0001583	missense	55701				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr14:21543067G>T		CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"""Rho guanine nucleotide exchange factors"""	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.1178G>T	14.37:g.21543067G>T	ENSP00000298694:p.Arg393Leu					FLJ10357_uc001vzn.1_Missense_Mutation_p.R393L|FLJ10357_uc001vzo.1_Intron|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_5'UTR	p.R393L	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08)	GBM - Glioblastoma multiforme(265;0.0197)	3	1207	+	all_cancers(95;0.00185)		393			Gly-rich.		A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Missense_Mutation	SNP	ENST00000298694.4	37	c.1178G>T	CCDS32041.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245043	0.59103	.	.	ENSG00000165801	ENST00000298694;ENST00000555038;ENST00000298693	T;T	0.02472	4.33;4.28	5.14	3.28	0.37604	.	0.344565	0.21365	N	0.075730	T	0.04182	0.0116	N	0.19112	0.55	0.30745	N	0.745745	P;D	0.56746	0.875;0.977	P;P	0.55303	0.474;0.773	T	0.23119	-1.0197	10	0.46703	T	0.11	.	8.4119	0.32648	0.1904:0.0:0.8096:0.0	.	393;393	Q8TER5;G3V3N2	ARH40_HUMAN;.	L	393	ENSP00000298694:R393L;ENSP00000298693:R393L	ENSP00000298693:R393L	R	+	2	0	ARHGEF40	20612907	0.996000	0.38824	1.000000	0.80357	0.945000	0.59286	2.269000	0.43346	1.300000	0.44818	0.462000	0.41574	CGA		0.607	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1			13	32	1	0	2.62e-11	3.1e-11	13	32				
LRFN5	145581	broad.mit.edu	37	14	42356226	42356226	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr14:42356226A>G	ENST00000298119.4	+	3	1587	c.398A>G	c.(397-399)aAt>aGt	p.N133S	LRFN5_ENST00000554120.1_Missense_Mutation_p.N133S|LRFN5_ENST00000554171.1_Missense_Mutation_p.N133S	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	133						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CTGAACAACAATCAGCTGACT	0.373										HNSCC(30;0.082)																												uc001wvm.2		NA																	0				ovary(5)|pancreas(2)|central_nervous_system(1)	8						c.(397-399)AAT>AGT		leucine rich repeat and fibronectin type III							93.0	88.0	90.0					14																	42356226		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42356226A>G	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.398A>G	14.37:g.42356226A>G	ENSP00000298119:p.Asn133Ser	HNSCC(30;0.082)				LRFN5_uc010ana.2_Missense_Mutation_p.N133S	p.N133S	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	3	1596	+			133			Extracellular (Potential).|LRR 4.		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.398A>G	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	A	16.95	3.262441	0.59431	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.63580	-0.05;-0.05;-0.05	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000010	D	0.83161	0.5194	M	0.92691	3.335	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86981	0.2104	10	0.66056	D	0.02	.	13.6661	0.62396	1.0:0.0:0.0:0.0	.	133;133	G3V364;Q96NI6	.;LRFN5_HUMAN	S	133	ENSP00000298119:N133S;ENSP00000451897:N133S;ENSP00000451067:N133S	ENSP00000298119:N133S	N	+	2	0	LRFN5	41425976	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.339000	0.96797	2.098000	0.63641	0.528000	0.53228	AAT		0.373	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		15	47	0	0	0	0	15	47				
DAAM1	23002	broad.mit.edu	37	14	59798071	59798071	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr14:59798071C>G	ENST00000395125.1	+	13	1728	c.1705C>G	c.(1705-1707)Ctc>Gtc	p.L569V	DAAM1_ENST00000351081.1_Missense_Mutation_p.L569V|DAAM1_ENST00000360909.3_Missense_Mutation_p.L569V	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	569	FH1.|Pro-rich.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		accgcctcccctccctccagg	0.642																																						uc001xdz.1		NA																	0				ovary(1)	1						c.(1705-1707)CTC>GTC		dishevelled-associated activator of							28.0	30.0	29.0					14																	59798071		2201	4298	6499	SO:0001583	missense	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59798071C>G	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.1705C>G	14.37:g.59798071C>G	ENSP00000378557:p.Leu569Val					DAAM1_uc001xea.1_Missense_Mutation_p.L569V	p.L569V	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	14	1830	+			569			FH1.|Pro-rich.		Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	37	c.1705C>G	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	C	5.274	0.235897	0.10023	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	T;T;T	0.21543	2.0;2.0;2.0	5.86	5.86	0.93980	Actin-binding FH2 (1);	0.412335	0.29286	N	0.012581	T	0.23330	0.0564	L	0.43923	1.385	0.48288	D	0.999623	B;B	0.18310	0.027;0.004	B;B	0.22880	0.042;0.013	T	0.03202	-1.1061	10	0.24483	T	0.36	.	20.1735	0.98170	0.0:1.0:0.0:0.0	.	569;569	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	V	569	ENSP00000354162:L569V;ENSP00000247170:L569V;ENSP00000378557:L569V	ENSP00000247170:L569V	L	+	1	0	DAAM1	58867824	1.000000	0.71417	0.984000	0.44739	0.451000	0.32288	7.362000	0.79507	2.937000	0.99478	0.650000	0.86243	CTC		0.642	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		8	19	0	0	0	0	8	19				
SPTB	6710	broad.mit.edu	37	14	65242099	65242099	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr14:65242099C>A	ENST00000389721.5	-	22	4618	c.4586G>T	c.(4585-4587)gGc>gTc	p.G1529V	SPTB_ENST00000389722.3_Missense_Mutation_p.G1529V|SPTB_ENST00000389720.3_Missense_Mutation_p.G1529V|SPTB_ENST00000556626.1_Missense_Mutation_p.G1529V|SPTB_ENST00000542895.1_Missense_Mutation_p.G1529V	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1529					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)		CGGCGTATGGCCCAGAATCTC	0.662																																						uc001xht.2		NA																	0				ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11						c.(4585-4587)GGC>GTC		spectrin beta isoform b							32.0	30.0	31.0					14																	65242099		2203	4300	6503	SO:0001583	missense	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.chr14:65242099C>A		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.4586G>T	14.37:g.65242099C>A	ENSP00000374371:p.Gly1529Val					SPTB_uc001xhr.2_Missense_Mutation_p.G1529V|SPTB_uc001xhs.2_Missense_Mutation_p.G1529V|SPTB_uc001xhu.2_Missense_Mutation_p.G1529V|SPTB_uc010aqi.2_Missense_Mutation_p.G190V	p.G1529V	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)	22	4640	-		all_lung(585;4.15e-09)	1529			Spectrin 12.		Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.4586G>T	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.647152	0.67358	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000335612;ENST00000553938;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.67524	0.2902	M	0.66939	2.045	0.80722	D	1	P;D;D	0.71674	0.954;0.998;0.978	P;D;P	0.78314	0.814;0.991;0.775	T	0.69146	-0.5222	10	0.54805	T	0.06	.	17.5588	0.87901	0.0:1.0:0.0:0.0	.	313;1529;1533	E7EV95;P11277;Q59FP5	.;SPTB1_HUMAN;.	V	1533;1529;313;194;1529;1529;1529;1529	ENSP00000374372:G1529V;ENSP00000451324:G194V;ENSP00000451752:G1529V;ENSP00000374371:G1529V;ENSP00000443882:G1529V;ENSP00000374370:G1529V	ENSP00000334218:G313V	G	-	2	0	SPTB	64311852	1.000000	0.71417	1.000000	0.80357	0.207000	0.24258	7.799000	0.85936	2.496000	0.84212	0.561000	0.74099	GGC		0.662	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			15	13	1	0	1.15e-07	1.29e-07	15	13				
MAX	4149	broad.mit.edu	37	14	65544653	65544653	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr14:65544653C>G	ENST00000358664.4	-	4	403	c.273G>C	c.(271-273)caG>caC	p.Q91H	MAX_ENST00000556979.1_Missense_Mutation_p.Q91H|MAX_ENST00000555419.1_Missense_Mutation_p.Q55H|MAX_ENST00000284165.6_Missense_Mutation_p.Q91H|MAX_ENST00000556443.1_Missense_Mutation_p.Q82H|MAX_ENST00000341653.2_Intron|MAX_ENST00000358402.4_Missense_Mutation_p.Q82H|MAX_ENST00000557746.1_Missense_Mutation_p.Q82H|MAX_ENST00000557277.1_5'UTR|MAX_ENST00000555932.1_Intron|MAX_ENST00000555667.1_Missense_Mutation_p.Q82H	NM_002382.4	NP_002373.3	P61244	MAX_HUMAN	MYC associated factor X	91	Leucine-zipper.				cellular response to peptide hormone stimulus (GO:0071375)|cellular response to starvation (GO:0009267)|negative regulation of gene expression (GO:0010629)|neuron apoptotic process (GO:0051402)|protein complex assembly (GO:0006461)|response to axon injury (GO:0048678)|response to insulin (GO:0032868)|retina development in camera-type eye (GO:0060041)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)|PML body (GO:0016605)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		GAAGAGCATTCTGCCGCTTGA	0.567																																						uc001xif.1		NA																	0				lung(1)	1						c.(271-273)CAG>CAC		MAX protein isoform a							120.0	98.0	106.0					14																	65544653		2203	4300	6503	SO:0001583	missense	4149				transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:65544653C>G		CCDS9770.1, CCDS9771.1, CCDS9772.1, CCDS9774.1, CCDS41965.1	14q23	2014-09-17	2005-02-08		ENSG00000125952	ENSG00000125952		"""Basic helix-loop-helix proteins"""	6913	protein-coding gene	gene with protein product		154950	"""MAX protein"""			1557420	Standard	NM_002382		Approved	bHLHd4, bHLHd5, bHLHd6, bHLHd7, bHLHd8	uc001xif.2	P61244	OTTHUMG00000142809	ENST00000358664.4:c.273G>C	14.37:g.65544653C>G	ENSP00000351490:p.Gln91His					MAX_uc001xic.1_Intron|MAX_uc001xie.1_Missense_Mutation_p.Q91H|MAX_uc010aql.1_Intron|MAX_uc001xig.1_Missense_Mutation_p.Q82H|MAX_uc001xih.1_RNA|MAX_uc001xii.1_Missense_Mutation_p.Q82H|MAX_uc001xij.1_Missense_Mutation_p.Q91H	p.Q91H	NM_002382	NP_002373	P61244	MAX_HUMAN		all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)	4	443	-			91			Leucine-zipper.		A6NH73|A8K265|A8K4G4|A8K824|P25912|P52163|Q14803|Q96CY8	Missense_Mutation	SNP	ENST00000358664.4	37	c.273G>C	CCDS9771.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.200101	0.38905	.	.	ENSG00000125952	ENST00000358402;ENST00000284165;ENST00000358664;ENST00000555419;ENST00000556892;ENST00000441116;ENST00000556979;ENST00000555667;ENST00000557746;ENST00000556443	D;D;D;D;D;D;D;D;D	0.98455	-4.94;-4.94;-4.94;-4.05;-3.29;-4.94;-4.94;-4.94;-4.94	5.04	5.04	0.67666	Helix-loop-helix DNA-binding (2);	0.000000	0.85682	D	0.000000	D	0.97263	0.9105	M	0.65975	2.015	0.80722	D	1	B;B;P;P;B	0.39576	0.41;0.094;0.679;0.551;0.307	B;B;B;B;B	0.39094	0.135;0.048;0.29;0.152;0.132	D	0.98223	1.0479	10	0.66056	D	0.02	-4.3622	17.1401	0.86750	0.0:1.0:0.0:0.0	.	91;82;82;91;91	Q14803;Q6V3B1;P61244-2;P61244;P61244-3	.;.;.;MAX_HUMAN;.	H	82;91;91;55;18;98;91;82;82;82	ENSP00000351175:Q82H;ENSP00000284165:Q91H;ENSP00000351490:Q91H;ENSP00000452405:Q55H;ENSP00000452206:Q18H;ENSP00000452378:Q91H;ENSP00000452286:Q82H;ENSP00000452197:Q82H;ENSP00000450818:Q82H	ENSP00000284165:Q91H	Q	-	3	2	MAX	64614406	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.295000	0.51794	2.312000	0.78011	0.455000	0.32223	CAG		0.567	MAX-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286386.1	NM_197957		18	32	0	0	0	0	18	32				
SLC12A6	9990	broad.mit.edu	37	15	34628812	34628812	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr15:34628812C>G	ENST00000354181.3	-	2	562	c.70G>C	c.(70-72)Gac>Cac	p.D24H	SLC12A6_ENST00000397702.2_Intron|SLC12A6_ENST00000397707.2_Missense_Mutation_p.D24H|SLC12A6_ENST00000558667.1_Missense_Mutation_p.D24H|SLC12A6_ENST00000560611.1_Missense_Mutation_p.D24H|SLC12A6_ENST00000558589.1_Missense_Mutation_p.D15H|SLC12A6_ENST00000458406.2_Intron			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	24					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CCTGGAATGTCATCGATCTTT	0.488																																						uc001zhw.2		NA																	0				central_nervous_system(5)|ovary(1)|skin(1)	7						c.(70-72)GAC>CAC		solute carrier family 12, member 6 isoform a	Potassium Chloride(DB00761)						71.0	75.0	74.0					15																	34628812		2089	4236	6325	SO:0001583	missense	9990				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	g.chr15:34628812C>G	AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"""Solute carriers"""	10914	protein-coding gene	gene with protein product		604878	"""agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"""	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.70G>C	15.37:g.34628812C>G	ENSP00000346112:p.Asp24His					SLC12A6_uc001zhx.2_Missense_Mutation_p.D24H|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Intron|SLC12A6_uc001zib.2_Missense_Mutation_p.D15H|SLC12A6_uc001zic.2_Missense_Mutation_p.D24H|SLC12A6_uc010bau.2_Missense_Mutation_p.D24H|SLC12A6_uc001zid.2_Intron	p.D24H	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	1	234	-		all_lung(180;2.78e-08)	24			Cytoplasmic (Potential).		A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Missense_Mutation	SNP	ENST00000354181.3	37	c.70G>C	CCDS58352.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983859	0.74474	.	.	ENSG00000140199	ENST00000397707;ENST00000354181	D	0.85411	-1.98	4.75	4.75	0.60458	.	0.137269	0.45361	D	0.000368	T	0.81559	0.4848	N	0.08118	0	0.80722	D	1	P;P	0.52316	0.948;0.952	P;P	0.54706	0.759;0.579	D	0.85975	0.1479	10	0.72032	D	0.01	.	16.6728	0.85271	0.0:1.0:0.0:0.0	.	24;24	Q9UHW9-3;Q9UHW9	.;S12A6_HUMAN	H	24;15	ENSP00000380819:D24H	ENSP00000346112:D15H	D	-	1	0	SLC12A6	32416104	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.046000	0.71029	2.452000	0.82932	0.563000	0.77884	GAC		0.488	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135		14	21	0	0	0	0	14	21				
PRSS22	64063	broad.mit.edu	37	16	2905798	2905798	+	Silent	SNP	C	C	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr16:2905798C>T	ENST00000161006.3	-	4	401	c.336G>A	c.(334-336)ggG>ggA	p.G112G	LA16c-325D7.1_ENST00000577140.1_RNA|PRSS22_ENST00000571228.1_Intron|PRSS22_ENST00000574768.1_5'UTR	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN	protease, serine, 22	112	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						AGCCAGGGTTCCCCAGCTGCC	0.617																																						uc002cry.1		NA																	0				central_nervous_system(1)	1						c.(334-336)GGG>GGA		protease, serine, 22 precursor							36.0	39.0	38.0					16																	2905798		2198	4300	6498	SO:0001819	synonymous_variant	64063				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:2905798C>T	AF321182	CCDS10481.1	16p13.3	2010-05-07			ENSG00000005001	ENSG00000005001		"""Serine peptidases / Serine peptidases"""	14368	protein-coding gene	gene with protein product	"""brain-specific serine protease 4"""	609343				11602603, 15701722	Standard	XM_005255473		Approved	hBSSP-4, BSSP-4, SP001LA	uc002cry.1	Q9GZN4	OTTHUMG00000128961	ENST00000161006.3:c.336G>A	16.37:g.2905798C>T						PRSS22_uc002crz.1_Intron	p.G112G	NM_022119	NP_071402	Q9GZN4	BSSP4_HUMAN			4	402	-			112			Peptidase S1.		O43342|Q6UXE0	Silent	SNP	ENST00000161006.3	37	c.336G>A	CCDS10481.1																																																																																				0.617	PRSS22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250943.1	NM_022119		6	28	0	0	0	0	6	28				
COG7	91949	broad.mit.edu	37	16	23444886	23444886	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr16:23444886G>C	ENST00000307149.5	-	6	975	c.790C>G	c.(790-792)Caa>Gaa	p.Q264E		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	264					intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		CACTGGATTTGTGTGTGCCAA	0.547																																						uc002dlo.2		NA																	0					0						c.(790-792)CAA>GAA		component of oligomeric golgi complex 7							99.0	86.0	90.0					16																	23444886		2197	4300	6497	SO:0001583	missense	91949				intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:23444886G>C	AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"""Components of oligomeric golgi complex"""	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.790C>G	16.37:g.23444886G>C	ENSP00000305442:p.Gln264Glu						p.Q264E	NM_153603	NP_705831	P83436	COG7_HUMAN		GBM - Glioblastoma multiforme(48;0.0401)	6	978	-			264					Q6UWU7	Missense_Mutation	SNP	ENST00000307149.5	37	c.790C>G	CCDS10610.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.195605	0.38806	.	.	ENSG00000168434	ENST00000307149	T	0.42513	0.97	4.74	4.74	0.60224	.	0.114842	0.64402	D	0.000009	T	0.32971	0.0847	L	0.41573	1.285	0.80722	D	1	B	0.18310	0.027	B	0.23018	0.043	T	0.17379	-1.0371	10	0.02654	T	1	-10.8476	17.0603	0.86546	0.0:0.0:1.0:0.0	.	264	P83436	COG7_HUMAN	E	264	ENSP00000305442:Q264E	ENSP00000305442:Q264E	Q	-	1	0	COG7	23352387	1.000000	0.71417	0.941000	0.38009	0.895000	0.52256	6.887000	0.75616	2.334000	0.79466	0.655000	0.94253	CAA		0.547	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211625.1			3	40	0	0	0	0	3	40				
GTF3C1	2975	broad.mit.edu	37	16	27472703	27472703	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr16:27472703C>T	ENST00000356183.4	-	37	6313	c.6298G>A	c.(6298-6300)Gag>Aag	p.E2100K	GTF3C1_ENST00000567806.1_5'Flank|GTF3C1_ENST00000561623.1_Missense_Mutation_p.E2075K	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	2100					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CAGTTGACCTCGTGGGGGAAC	0.652																																						uc002dov.1		NA																	0				ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(6298-6300)GAG>AAG		general transcription factor IIIC, polypeptide							60.0	61.0	61.0					16																	27472703		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27472703C>T	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.6298G>A	16.37:g.27472703C>T	ENSP00000348510:p.Glu2100Lys					GTF3C1_uc002dou.2_Missense_Mutation_p.E2075K	p.E2100K	NM_001520	NP_001511	Q12789	TF3C1_HUMAN			37	6338	-			2100					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.6298G>A	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.978744	0.74360	.	.	ENSG00000077235	ENST00000356183	T	0.30448	1.53	5.23	4.28	0.50868	.	0.125811	0.52532	D	0.000067	T	0.29061	0.0722	M	0.72118	2.19	0.35897	D	0.830103	B;B	0.34264	0.446;0.178	B;B	0.20384	0.027;0.029	T	0.43376	-0.9395	10	0.66056	D	0.02	-21.7821	10.6613	0.45704	0.0:0.911:0.0:0.089	.	2100;2075	Q12789;Q12789-3	TF3C1_HUMAN;.	K	2100	ENSP00000348510:E2100K	ENSP00000348510:E2100K	E	-	1	0	GTF3C1	27380204	0.999000	0.42202	0.689000	0.30133	0.994000	0.84299	4.199000	0.58426	1.218000	0.43458	0.561000	0.74099	GAG		0.652	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		10	40	0	0	0	0	10	40				
ZNF768	79724	broad.mit.edu	37	16	30537124	30537124	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr16:30537124C>T	ENST00000380412.5	-	2	512	c.337G>A	c.(337-339)Gag>Aag	p.E113K	ZNF768_ENST00000562803.1_Missense_Mutation_p.E82K	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	113	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	DNA-directed RNA polymerase II, core complex (GO:0005665)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GATTCAAACTCAGGGCTCTGA	0.587																																						uc002dyk.3		NA																	0					0						c.(337-339)GAG>AAG		zinc finger protein 768							34.0	40.0	38.0					16																	30537124		2148	4277	6425	SO:0001583	missense	79724				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding	g.chr16:30537124C>T	BC013760	CCDS10681.2	16p11.2	2013-01-08			ENSG00000169957	ENSG00000169957		"""Zinc fingers, C2H2-type"""	26273	protein-coding gene	gene with protein product						12477932	Standard	NM_024671		Approved	FLJ23436	uc002dyk.4	Q9H5H4	OTTHUMG00000132392	ENST00000380412.5:c.337G>A	16.37:g.30537124C>T	ENSP00000369777:p.Glu113Lys					ZNF768_uc010vex.1_Missense_Mutation_p.E82K|uc002dyl.1_5'Flank|ZNF768_uc010vew.1_Missense_Mutation_p.E82K	p.E113K	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN			2	513	-			113			Pro-rich.		Q569L7|Q96CX4	Missense_Mutation	SNP	ENST00000380412.5	37	c.337G>A	CCDS10681.2	.	.	.	.	.	.	.	.	.	.	C	15.23	2.771288	0.49680	.	.	ENSG00000169957	ENST00000380412;ENST00000538507	T	0.06371	3.31	4.23	4.23	0.50019	.	0.283027	0.25552	N	0.029888	T	0.02304	0.0071	N	0.02539	-0.55	0.31936	N	0.611545	B	0.12013	0.005	B	0.15870	0.014	T	0.27640	-1.0068	10	0.06625	T	0.88	-8.7238	10.5306	0.44975	0.0:0.9057:0.0:0.0943	.	113	Q9H5H4	ZN768_HUMAN	K	113;82	ENSP00000369777:E113K	ENSP00000369777:E113K	E	-	1	0	ZNF768	30444625	0.994000	0.37717	0.996000	0.52242	0.989000	0.77384	5.489000	0.66875	2.648000	0.89879	0.561000	0.74099	GAG		0.587	ZNF768-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255522.2	NM_024671		14	60	0	0	0	0	14	60				
ZNF768	79724	broad.mit.edu	37	16	30537662	30537662	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr16:30537662C>G	ENST00000380412.5	-	1	248	c.73G>C	c.(73-75)Gaa>Caa	p.E25Q	ZNF747_ENST00000569360.1_Intron|ZNF747_ENST00000535210.1_Intron|ZNF768_ENST00000562803.1_Intron	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	25					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	DNA-directed RNA polymerase II, core complex (GO:0005665)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						AGGTACCCTTCGGGGCTCCTC	0.711																																						uc002dyk.3		NA																	0					0						c.(73-75)GAA>CAA		zinc finger protein 768							34.0	36.0	35.0					16																	30537662		2197	4300	6497	SO:0001583	missense	79724				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding	g.chr16:30537662C>G	BC013760	CCDS10681.2	16p11.2	2013-01-08			ENSG00000169957	ENSG00000169957		"""Zinc fingers, C2H2-type"""	26273	protein-coding gene	gene with protein product						12477932	Standard	NM_024671		Approved	FLJ23436	uc002dyk.4	Q9H5H4	OTTHUMG00000132392	ENST00000380412.5:c.73G>C	16.37:g.30537662C>G	ENSP00000369777:p.Glu25Gln					ZNF768_uc010vex.1_Intron|uc002dyl.1_5'Flank|ZNF768_uc010vew.1_Intron	p.E25Q	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN			1	249	-			25					Q569L7|Q96CX4	Missense_Mutation	SNP	ENST00000380412.5	37	c.73G>C	CCDS10681.2	.	.	.	.	.	.	.	.	.	.	C	11.85	1.763059	0.31228	.	.	ENSG00000169957	ENST00000380412	T	0.07216	3.21	5.05	2.95	0.34219	.	0.154985	0.30401	N	0.009711	T	0.04998	0.0134	N	0.19112	0.55	0.38465	D	0.947324	B	0.11235	0.004	B	0.09377	0.004	T	0.37572	-0.9700	10	0.21540	T	0.41	-2.9734	8.1392	0.31073	0.0:0.603:0.3062:0.0908	.	25	Q9H5H4	ZN768_HUMAN	Q	25	ENSP00000369777:E25Q	ENSP00000369777:E25Q	E	-	1	0	ZNF768	30445163	0.000000	0.05858	1.000000	0.80357	0.889000	0.51656	0.150000	0.16263	1.353000	0.45828	0.561000	0.74099	GAA		0.711	ZNF768-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255522.2	NM_024671		4	22	0	0	0	0	4	22				
ZNF768	79724	broad.mit.edu	37	16	30537672	30537672	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr16:30537672C>T	ENST00000380412.5	-	1	238	c.63G>A	c.(61-63)atG>atA	p.M21I	ZNF747_ENST00000569360.1_Intron|ZNF747_ENST00000535210.1_Intron|ZNF768_ENST00000562803.1_Intron	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	21					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	DNA-directed RNA polymerase II, core complex (GO:0005665)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						CGGGGCTCCTCATTTCGTCAG	0.701																																						uc002dyk.3		NA																	0					0						c.(61-63)ATG>ATA		zinc finger protein 768							35.0	37.0	36.0					16																	30537672		2197	4300	6497	SO:0001583	missense	79724				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding	g.chr16:30537672C>T	BC013760	CCDS10681.2	16p11.2	2013-01-08			ENSG00000169957	ENSG00000169957		"""Zinc fingers, C2H2-type"""	26273	protein-coding gene	gene with protein product						12477932	Standard	NM_024671		Approved	FLJ23436	uc002dyk.4	Q9H5H4	OTTHUMG00000132392	ENST00000380412.5:c.63G>A	16.37:g.30537672C>T	ENSP00000369777:p.Met21Ile					ZNF768_uc010vex.1_Intron|uc002dyl.1_5'Flank|ZNF768_uc010vew.1_Intron	p.M21I	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN			1	239	-			21					Q569L7|Q96CX4	Missense_Mutation	SNP	ENST00000380412.5	37	c.63G>A	CCDS10681.2	.	.	.	.	.	.	.	.	.	.	C	13.33	2.204022	0.38905	.	.	ENSG00000169957	ENST00000380412	T	0.05996	3.36	5.05	3.12	0.35913	.	0.863278	0.10007	N	0.727658	T	0.04048	0.0113	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37197	-0.9716	10	0.27785	T	0.31	0.0891	6.1467	0.20289	0.1511:0.6844:0.0:0.1645	.	21	Q9H5H4	ZN768_HUMAN	I	21	ENSP00000369777:M21I	ENSP00000369777:M21I	M	-	3	0	ZNF768	30445173	0.000000	0.05858	1.000000	0.80357	0.904000	0.53231	-1.108000	0.03313	0.729000	0.32403	0.561000	0.74099	ATG		0.701	ZNF768-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255522.2	NM_024671		5	23	0	0	0	0	5	23				
MMP2	4313	broad.mit.edu	37	16	55523685	55523685	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr16:55523685A>G	ENST00000219070.4	+	7	1638	c.1129A>G	c.(1129-1131)Acc>Gcc	p.T377A	MMP2_ENST00000570308.1_Missense_Mutation_p.T301A|MMP2_ENST00000437642.2_Missense_Mutation_p.T327A|MMP2_ENST00000543485.1_Missense_Mutation_p.T301A	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	377	Collagen-binding.|Fibronectin type-II 3. {ECO:0000255|PROSITE-ProRule:PRU00479}.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	GTGGTGTGCGACCACAGCCAA	0.592																																						uc002ehz.3		NA																	0				large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11						c.(1129-1131)ACC>GCC		matrix metalloproteinase 2 isoform a	Marimastat(DB00786)|Sulindac(DB00605)						110.0	91.0	98.0					16																	55523685		2198	4300	6498	SO:0001583	missense	4313				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:55523685A>G		CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"""matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)"", ""matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"""	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.1129A>G	16.37:g.55523685A>G	ENSP00000219070:p.Thr377Ala					MMP2_uc010vhd.1_Missense_Mutation_p.T301A|MMP2_uc010ccc.2_Missense_Mutation_p.T327A	p.T377A	NM_004530	NP_004521	P08253	MMP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	7	1440	+		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)	377			Fibronectin type-II 3.|Collagen-binding.		B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Missense_Mutation	SNP	ENST00000219070.4	37	c.1129A>G	CCDS10752.1	.	.	.	.	.	.	.	.	.	.	A	12.27	1.887475	0.33348	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	T;T;T	0.59502	0.26;0.26;0.26	5.05	5.05	0.67936	Peptidase M10, metallopeptidase (1);Fibronectin, type II, collagen-binding (5);Kringle-like fold (1);Peptidase, metallopeptidase (1);	0.379586	0.30227	N	0.010105	T	0.59500	0.2198	M	0.86953	2.85	0.32347	N	0.558916	P;B	0.44946	0.846;0.146	B;B	0.39217	0.294;0.086	T	0.74601	-0.3611	10	0.51188	T	0.08	.	8.9592	0.35836	0.7163:0.0:0.0:0.2837	.	327;377	E9PE45;P08253	.;MMP2_HUMAN	A	377;301;327	ENSP00000219070:T377A;ENSP00000444143:T301A;ENSP00000394237:T327A	ENSP00000219070:T377A	T	+	1	0	MMP2	54081186	0.970000	0.33590	0.328000	0.25416	0.383000	0.30230	2.290000	0.43531	2.026000	0.59711	0.533000	0.62120	ACC		0.592	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3			8	56	0	0	0	0	8	56				
DYNLRB2	83657	broad.mit.edu	37	16	80583380	80583380	+	Splice_Site	SNP	G	G	C			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr16:80583380G>C	ENST00000305904.6	+	3	199		c.e3-1		DYNLRB2_ENST00000570222.1_Splice_Site|DYNLRB2_ENST00000562982.1_Splice_Site|RP11-109P11.1_ENST00000568275.1_RNA|RP11-525K10.3_ENST00000568776.1_RNA|DYNLRB2_ENST00000568035.1_Intron	NM_130897.1	NP_570967.1	Q8TF09	DLRB2_HUMAN	dynein, light chain, roadblock-type 2						metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|transport (GO:0006810)	cytoplasmic dynein complex (GO:0005868)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			large_intestine(1)|lung(4)|prostate(1)	6						TTTCATAATAGGTATTCCCAT	0.338																																						uc002ffo.2		NA																	0					0						c.e5-1		dynein, light chain, roadblock-type 2							53.0	45.0	48.0					16																	80583380		2203	4300	6503	SO:0001630	splice_region_variant	83657				microtubule-based movement|transport	cytoplasmic dynein complex|microtubule	microtubule motor activity	g.chr16:80583380G>C	AF125108	CCDS10929.1	16q23.3	2008-02-05	2005-11-25	2005-11-25	ENSG00000168589	ENSG00000168589		"""Cytoplasmic dyneins"""	15467	protein-coding gene	gene with protein product	"""roadblock domain containing 2"""	607168	"""dynein, cytoplasmic, light polypeptide 2B"""	DNCL2B		11750132, 16260502	Standard	NM_130897		Approved	DNLC2B, ROBLD2	uc002ffo.3	Q8TF09	OTTHUMG00000137622	ENST00000305904.6:c.80-1G>C	16.37:g.80583380G>C						DYNLRB2_uc002ffp.2_Splice_Site|DYNLRB2_uc002ffq.2_RNA	p.G27_splice	NM_130897	NP_570967	Q8TF09	DLRB2_HUMAN			5	200	+									Splice_Site	SNP	ENST00000305904.6	37	c.80_splice	CCDS10929.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.457154	0.43634	.	.	ENSG00000168589	ENST00000305904	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7434	0.91782	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DYNLRB2	79140881	1.000000	0.71417	0.996000	0.52242	0.271000	0.26615	9.598000	0.98277	2.784000	0.95788	0.655000	0.94253	.		0.338	DYNLRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269043.1	NM_130897	Intron	4	20	0	0	0	0	4	20				
CLUH	23277	broad.mit.edu	37	17	2604528	2604528	+	Missense_Mutation	SNP	C	C	T	rs200340260		TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr17:2604528C>T	ENST00000570628.2	-	7	922	c.817G>A	c.(817-819)Gcc>Acc	p.A273T	CLUH_ENST00000435359.1_Missense_Mutation_p.A273T|CLUH_ENST00000538975.1_Missense_Mutation_p.A273T			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	273					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											CGGGGGCTGGCGGGCTTGGGG	0.622													C|||	1	0.000199681	0.0	0.0014	5008	,	,		13709	0.0		0.0	False		,,,				2504	0.0					uc002fuy.1		NA																	0				breast(2)	2						c.(817-819)GCC>ACC		hypothetical protein LOC23277		C	THR/ALA	0,3904		0,0,1952	28.0	31.0	30.0		817	4.7	1.0	17		30	1,8267		0,1,4133	no	missense	KIAA0664	NM_015229.3	58	0,1,6085	TT,TC,CC		0.0121,0.0,0.0082	possibly-damaging	273/1310	2604528	1,12171	1952	4134	6086	SO:0001583	missense	23277						binding	g.chr17:2604528C>T	AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"""KIAA0664"""	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.817G>A	17.37:g.2604528C>T	ENSP00000458986:p.Ala273Thr					KIAA0664_uc002fux.1_Missense_Mutation_p.A205T	p.A273T	NM_015229	NP_056044	O75153	K0664_HUMAN			7	903	-			273					Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Missense_Mutation	SNP	ENST00000570628.2	37	c.817G>A	CCDS45572.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	17.71	3.457268	0.63401	0.0	1.21E-4	ENSG00000132361	ENST00000435359;ENST00000322335;ENST00000538975	D;D	0.82081	-1.57;-1.57	4.74	4.74	0.60224	GSKIP/TIF31 domain (1);	0.155130	0.64402	D	0.000020	D	0.84754	0.5542	M	0.81239	2.535	0.80722	D	1	P;P	0.43826	0.818;0.818	B;B	0.41946	0.371;0.296	D	0.86390	0.1735	10	0.44086	T	0.13	.	16.8771	0.86054	0.0:1.0:0.0:0.0	.	273;273	O75153;C9J6D7	K0664_HUMAN;.	T	273	ENSP00000388872:A273T;ENSP00000439628:A273T	ENSP00000320468:A273T	A	-	1	0	KIAA0664	2551278	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	5.537000	0.67186	2.466000	0.83321	0.655000	0.94253	GCC		0.622	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437807.2	NM_015229		5	17	0	0	0	0	5	17				
MYBBP1A	10514	broad.mit.edu	37	17	4455195	4455195	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr17:4455195C>T	ENST00000254718.4	-	8	1309	c.1003G>A	c.(1003-1005)Gag>Aag	p.E335K	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.E335K			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	335	Interaction with MYB. {ECO:0000250}.				cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						CACACGTGCTCCCCGTAATGG	0.627																																						uc002fyb.3		NA																	0				ovary(1)|skin(1)	2						c.(1003-1005)GAG>AAG		MYB binding protein 1a isoform 2							77.0	61.0	67.0					17																	4455195		2203	4300	6503	SO:0001583	missense	10514				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding	g.chr17:4455195C>T	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"""p53-activated protein-2"""	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.1003G>A	17.37:g.4455195C>T	ENSP00000254718:p.Glu335Lys					MYBBP1A_uc002fxz.3_Missense_Mutation_p.E335K	p.E335K	NM_014520	NP_055335	Q9BQG0	MBB1A_HUMAN			8	1065	-			335			Interaction with MYB (By similarity).		Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Missense_Mutation	SNP	ENST00000254718.4	37	c.1003G>A	CCDS11046.1	.	.	.	.	.	.	.	.	.	.	c	15.05	2.716821	0.48622	.	.	ENSG00000132382	ENST00000381556;ENST00000254718;ENST00000426435	T;T	0.70631	-0.5;-0.5	5.12	4.13	0.48395	Armadillo-type fold (1);	0.270100	0.41500	D	0.000872	T	0.67757	0.2927	M	0.62723	1.935	0.33023	D	0.529135	B;B	0.34161	0.439;0.385	B;B	0.39094	0.267;0.29	T	0.70510	-0.4852	10	0.15499	T	0.54	-37.927	12.6534	0.56774	0.0:0.8337:0.1663:0.0	.	335;335	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	K	335	ENSP00000370968:E335K;ENSP00000254718:E335K	ENSP00000254718:E335K	E	-	1	0	MYBBP1A	4401944	0.947000	0.32204	0.990000	0.47175	0.272000	0.26649	3.417000	0.52714	1.352000	0.45808	0.457000	0.33378	GAG		0.627	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520		6	74	0	0	0	0	6	74				
MINK1	50488	broad.mit.edu	37	17	4789867	4789867	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr17:4789867C>T	ENST00000355280.6	+	10	1091	c.895C>T	c.(895-897)Cgc>Tgc	p.R299C	MINK1_ENST00000347992.7_Missense_Mutation_p.R299C|MINK1_ENST00000453408.3_Missense_Mutation_p.R299C	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2			misshapen-like kinase 1											central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						GCGGCAGGTCCGCATCCAGCT	0.602																																						uc010vsl.1		NA																	0				central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)|skin(1)	6						c.(895-897)CGC>TGC		misshapen-like kinase 1 isoform 3							52.0	56.0	55.0					17																	4789867		1957	4138	6095	SO:0001583	missense	50488				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr17:4789867C>T	AY775058	CCDS45588.1, CCDS45589.1, CCDS45590.1	17p13.2	2011-04-14	2010-06-24		ENSG00000141503	ENSG00000141503			17565	protein-coding gene	gene with protein product	"""misshapen/NIK-related kinase"""	609426	"""misshapen-like kinase 1 (zebrafish)"""			10708748, 12087176	Standard	NM_015716		Approved	B55, MINK, ZC3, MAP4K6, YSK2	uc010vsl.2	Q8N4C8		ENST00000355280.6:c.895C>T	17.37:g.4789867C>T	ENSP00000347427:p.Arg299Cys					MINK1_uc010vsk.1_Missense_Mutation_p.R299C|MINK1_uc010vsm.1_Missense_Mutation_p.R299C|MINK1_uc010vsn.1_Missense_Mutation_p.R299C|MINK1_uc010vso.1_Missense_Mutation_p.R244C|MINK1_uc010vsp.1_5'UTR	p.R299C	NM_153827	NP_722549	Q8N4C8	MINK1_HUMAN			10	1091	+			299						Missense_Mutation	SNP	ENST00000355280.6	37	c.895C>T	CCDS45588.1	.	.	.	.	.	.	.	.	.	.	C	34	5.338899	0.95783	.	.	ENSG00000141503	ENST00000355280;ENST00000453408;ENST00000347992	T;T;D	0.97352	1.51;0.07;-4.35	4.81	4.81	0.61882	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.98343	0.9450	M	0.82630	2.6	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.77557	0.99;0.99;0.978;0.99	D	0.99126	1.0851	10	0.87932	D	0	.	15.4193	0.74997	0.0:1.0:0.0:0.0	.	299;299;299;299	Q8N4C8-2;Q8N4C8-4;Q8N4C8;Q8N4C8-3	.;.;MINK1_HUMAN;.	C	299	ENSP00000347427:R299C;ENSP00000406487:R299C;ENSP00000269296:R299C	ENSP00000269296:R299C	R	+	1	0	MINK1	4730650	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.517000	0.84864	0.561000	0.74099	CGC		0.602	MINK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439801.1	NM_015716		20	46	0	0	0	0	20	46				
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575|rs397516437		TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr17:7577548C>T	ENST00000269305.4	-	7	922	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000420246.2_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2	G245S(SKLMS1_SOFT_TISSUE)|G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKMEL2_SKIN)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		420	Substitution - Missense(390)|Deletion - Frameshift(8)|Whole gene deletion(8)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)|Insertion - Frameshift(1)	p.G245S(274)|p.G245D(93)|p.G245V(50)|p.G245C(47)|p.G245R(10)|p.G245A(8)|p.0?(7)|p.G245G(3)|p.G245fs*2(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.G245fs*22(1)|p.M243fs*18(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)	large_intestine(119)|lung(51)|breast(38)|ovary(29)|central_nervous_system(27)|upper_aerodigestive_tract(25)|stomach(25)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(22)|urinary_tract(14)|skin(9)|liver(7)|prostate(7)|biliary_tract(5)|bone(5)|pancreas(4)|soft_tissue(3)|vulva(2)|endometrium(2)|kidney(1)|cervix(1)|salivary_gland(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM010463|CM900210|CM920674	TP53	M	rs28934575	c.(733-735)GGC>AGC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a		C	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	149.0	112.0	125.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	733,733,733,733,337,337,337	4.6	1.0	17	dbSNP_125	125	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	56,56,56,56,56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	245/394,245/394,245/347,245/342,113/262,113/210,113/215	7577548	1,13005	2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577548C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.733G>A	17.37:g.7577548C>T	ENSP00000269305:p.Gly245Ser	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.G245S|TP53_uc002gih.2_Missense_Mutation_p.G245S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G113S|TP53_uc010cng.1_Missense_Mutation_p.G113S|TP53_uc002gii.1_Missense_Mutation_p.G113S|TP53_uc010cnh.1_Missense_Mutation_p.G245S|TP53_uc010cni.1_Missense_Mutation_p.G245S|TP53_uc002gij.2_Missense_Mutation_p.G245S|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.G152S|TP53_uc002gio.2_Missense_Mutation_p.G113S	p.G245S	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	927	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	245		G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> A (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.733G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259904	0.95368	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99894	-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99878	0.9942	M	0.84585	2.705	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.976;0.992;0.999;0.999;1.0	D	0.96039	0.9023	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	rs28934575	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245S;ENSP00000352610:G245S;ENSP00000269305:G245S;ENSP00000398846:G245S;ENSP00000391127:G245S;ENSP00000391478:G245S;ENSP00000425104:G113S;ENSP00000423862:G152S	ENSP00000269305:G245S	G	-	1	0	TP53	7518273	1.000000	0.71417	0.965000	0.40720	0.974000	0.67602	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		15	21	0	0	0	0	15	21				
PHF12	57649	broad.mit.edu	37	17	27248731	27248731	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr17:27248731C>A	ENST00000332830.4	-	5	1621	c.811G>T	c.(811-813)Gtc>Ttc	p.V271F	PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000577226.1_Missense_Mutation_p.V271F|PHF12_ENST00000268756.3_Missense_Mutation_p.V271F	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CAGACTTTGACGGGTAAGGGA	0.408																																						uc002hdg.1		NA																	0				ovary(1)	1						c.(811-813)GTC>TTC		PHD finger protein 12 isoform 1							251.0	216.0	228.0					17																	27248731		2203	4300	6503	SO:0001583	missense	57649				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding	g.chr17:27248731C>A	AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.811G>T	17.37:g.27248731C>A	ENSP00000329933:p.Val271Phe					PHF12_uc010wbb.1_Missense_Mutation_p.V253F|PHF12_uc002hdi.1_Missense_Mutation_p.V267F|PHF12_uc002hdj.1_Missense_Mutation_p.V271F|PHF12_uc010crw.1_5'UTR|PHF12_uc002hdh.1_Missense_Mutation_p.V54F	p.V271F	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)		5	1341	-	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		271			PHD-type 2; atypical.|Interaction with SIN3A.			Missense_Mutation	SNP	ENST00000332830.4	37	c.811G>T	CCDS32598.1	.	.	.	.	.	.	.	.	.	.	C	34	5.325843	0.95708	.	.	ENSG00000109118	ENST00000332830;ENST00000378879;ENST00000268756	D;D;D	0.87650	-2.28;-2.28;-2.28	5.3	5.3	0.74995	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.121377	0.56097	D	0.000038	D	0.91815	0.7410	L	0.55481	1.735	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.992;0.999	D;D;D;P;D	0.75484	0.985;0.986;0.968;0.862;0.985	D	0.91787	0.5440	10	0.51188	T	0.08	-3.0466	17.4996	0.87727	0.0:1.0:0.0:0.0	.	253;271;271;271;271	B4DFE2;Q96QT6-2;Q2TAK2;C9J9G2;Q96QT6	.;.;.;.;PHF12_HUMAN	F	271	ENSP00000329933:V271F;ENSP00000368157:V271F;ENSP00000268756:V271F	ENSP00000268756:V271F	V	-	1	0	PHF12	24272857	1.000000	0.71417	0.986000	0.45419	0.991000	0.79684	7.712000	0.84684	2.474000	0.83562	0.655000	0.94253	GTC		0.408	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1	NM_020889		29	73	1	0	2.71e-09	3.16e-09	29	73				
MYO1D	4642	broad.mit.edu	37	17	31094761	31094761	+	Missense_Mutation	SNP	T	T	C	rs186742471	byFrequency	TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr17:31094761T>C	ENST00000318217.5	-	7	1028	c.724A>G	c.(724-726)Aat>Gat	p.N242D	MYO1D_ENST00000579584.1_Missense_Mutation_p.N242D|MYO1D_ENST00000394649.4_Missense_Mutation_p.N154D|MYO1D_ENST00000583621.1_Missense_Mutation_p.N242D	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	242	Myosin motor.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			GCAGCATCATTGATAGAAGAC	0.353																																						uc002hho.1		NA																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(724-726)AAT>GAT		myosin ID							77.0	69.0	72.0					17																	31094761		2203	4300	6503	SO:0001583	missense	4642					myosin complex	actin binding|ATP binding|calmodulin binding	g.chr17:31094761T>C	AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"""Myosins / Myosin superfamily : Class I"""	7598	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 108"""	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.724A>G	17.37:g.31094761T>C	ENSP00000324527:p.Asn242Asp					MYO1D_uc002hhp.1_Missense_Mutation_p.N242D|MYO1D_uc010wcb.1_Missense_Mutation_p.N242D	p.N242D	NM_015194	NP_056009	O94832	MYO1D_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0362)		7	736	-			242			Myosin head-like.		A6H8V3|Q8NHP9	Missense_Mutation	SNP	ENST00000318217.5	37	c.724A>G	CCDS32615.1	.	.	.	.	.	.	.	.	.	.	T	12.41	1.929524	0.34096	.	.	ENSG00000176658	ENST00000318217	D	0.83163	-1.69	5.86	5.86	0.93980	Myosin head, motor domain (2);	0.000000	0.41938	U	0.000788	T	0.65491	0.2696	N	0.04132	-0.27	0.54753	D	0.999986	B;B	0.18741	0.03;0.014	B;B	0.24006	0.039;0.05	T	0.62937	-0.6748	10	0.09843	T	0.71	.	14.1927	0.65649	0.0:0.0:0.0:1.0	.	153;242	Q7Z3N6;O94832	.;MYO1D_HUMAN	D	242	ENSP00000324527:N242D	ENSP00000324527:N242D	N	-	1	0	MYO1D	28118874	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.698000	0.84413	2.234000	0.73211	0.533000	0.62120	AAT		0.353	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1			24	39	0	0	0	0	24	39				
RFFL	117584	broad.mit.edu	37	17	33353416	33353416	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr17:33353416G>C	ENST00000315249.7	-	2	379	c.157C>G	c.(157-159)Cac>Gac	p.H53D	RFFL_ENST00000378516.2_Missense_Mutation_p.H53D|RFFL_ENST00000415395.2_Missense_Mutation_p.H53D|RFFL_ENST00000584655.1_Missense_Mutation_p.H53D|RFFL_ENST00000413582.2_Missense_Mutation_p.H53D|RFFL_ENST00000394597.2_Missense_Mutation_p.H53D|RFFL_ENST00000268850.7_Missense_Mutation_p.H53D|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000447669.2_Missense_Mutation_p.H53D					ring finger and FYVE-like domain containing E3 ubiquitin protein ligase											kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TTTGCAAAGTGAGCCCCACAG	0.597																																						uc002hin.1		NA																	0					0						c.(157-159)CAC>GAC		rififylin							93.0	65.0	74.0					17																	33353416		2203	4300	6503	SO:0001583	missense	117584				apoptosis	membrane	ligase activity|zinc ion binding	g.chr17:33353416G>C	AF434816	CCDS11286.1	17q12	2012-02-23	2012-02-23		ENSG00000092871	ENSG00000092871		"""RING-type (C3HC4) zinc fingers"""	24821	protein-coding gene	gene with protein product		609735	"""ring finger and FYVE-like domain containing"""			15229288	Standard	NR_037713		Approved	rififylin, fring, RNF189, RNF34L	uc002hin.1	Q8WZ73	OTTHUMG00000132933	ENST00000315249.7:c.157C>G	17.37:g.33353416G>C	ENSP00000326170:p.His53Asp					RFFL_uc002hiq.2_Intron|RFFL_uc002him.1_Missense_Mutation_p.H53D|RFFL_uc010cti.1_Missense_Mutation_p.H59D|RFFL_uc002hip.1_Missense_Mutation_p.H53D|RFFL_uc002hio.1_Missense_Mutation_p.H53D	p.H53D	NM_001017368	NP_001017368	Q8WZ73	RFFL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	2	330	-		Ovarian(249;0.17)	53			FYVE-type.			Missense_Mutation	SNP	ENST00000315249.7	37	c.157C>G	CCDS11286.1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.472526	0.26423	.	.	ENSG00000092871	ENST00000315249;ENST00000394597;ENST00000378516;ENST00000268850;ENST00000413582;ENST00000415395;ENST00000414419	T;T;T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67	5.08	4.12	0.48240	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.111745	0.64402	D	0.000011	T	0.72716	0.3495	L	0.27053	0.805	0.36370	D	0.86125	D;P;D;D	0.67145	0.996;0.885;0.964;0.996	D;P;P;D	0.77557	0.99;0.465;0.451;0.99	T	0.74645	-0.3596	10	0.27785	T	0.31	-17.4372	12.6923	0.56982	0.079:0.0:0.921:0.0	.	53;53;53;53	C9JN73;Q8WZ73-3;Q8WZ73;Q8WZ73-2	.;.;RFFL_HUMAN;.	D	53	ENSP00000326170:H53D;ENSP00000378096:H53D;ENSP00000367777:H53D;ENSP00000268850:H53D;ENSP00000408513:H53D;ENSP00000412322:H53D;ENSP00000395090:H53D	ENSP00000268850:H53D	H	-	1	0	RFFL	30377529	1.000000	0.71417	0.995000	0.50966	0.676000	0.39594	4.200000	0.58433	1.382000	0.46385	0.561000	0.74099	CAC		0.597	RFFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256460.2	NM_057178		6	24	0	0	0	0	6	24				
CCL23	6368	broad.mit.edu	37	17	34340266	34340266	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr17:34340266C>T	ENST00000591423.1	-	4	398	c.334G>A	c.(334-336)Gac>Aac	p.D112N	RP11-104J23.1_ENST00000588294.1_RNA|RP11-104J23.2_ENST00000590149.1_lincRNA|RP11-104J23.1_ENST00000590192.1_RNA|CCL23_ENST00000293280.2_Missense_Mutation_p.D129N	NM_145898.1	NP_665905.1	P55773	CCL23_HUMAN	chemokine (C-C motif) ligand 23	112					cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|monocyte chemotaxis (GO:0002548)|negative regulation of C-C chemokine binding (GO:2001264)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR1 chemokine receptor binding (GO:0031726)|chemokine activity (GO:0008009)|heparin binding (GO:0008201)			large_intestine(2)|liver(1)|lung(2)|prostate(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATCCGTGTGTCCAGCTTCAGC	0.498																																						uc002hkt.1		NA																	0					0						c.(334-336)GAC>AAC		small inducible cytokine A23 isoform CKbeta8	Treprostinil(DB00374)						108.0	88.0	95.0					17																	34340266		2203	4300	6503	SO:0001583	missense	6368				cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|negative regulation of cell proliferation	extracellular space	chemokine activity|heparin binding	g.chr17:34340266C>T	U58913	CCDS11305.1, CCDS59282.1	17q11.2	2014-05-06	2002-08-22	2002-08-23	ENSG00000167236	ENSG00000274736		"""Chemokine ligands"", ""Endogenous ligands"""	10622	protein-coding gene	gene with protein product		602494	"""small inducible cytokine subfamily A (Cys-Cys), member 23"""	SCYA23		9104803, 10409433	Standard	XR_429910		Approved	Ckb-8, MPIF-1, MIP-3, CKb8	uc002hks.1	P55773	OTTHUMG00000188409	ENST00000591423.1:c.334G>A	17.37:g.34340266C>T	ENSP00000465954:p.Asp112Asn					CCL23_uc002hks.1_Missense_Mutation_p.D129N	p.D112N	NM_145898	NP_665905	P55773	CCL23_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	4	405	-		Ovarian(249;0.17)	112					B7ZKQ3|O00174|O75950|Q52LD4	Missense_Mutation	SNP	ENST00000591423.1	37	c.334G>A	CCDS59282.1	.	.	.	.	.	.	.	.	.	.	C	0.139	-1.103849	0.01828	.	.	ENSG00000167236	ENST00000293280	T	0.03663	3.85	3.44	-5.34	0.02705	.	11.713300	0.00357	N	0.000022	T	0.00998	0.0033	N	0.00566	-1.37	0.09310	N	1	B;B	0.14012	0.002;0.009	B;B	0.15484	0.004;0.013	T	0.44802	-0.9304	10	0.02654	T	1	.	5.32	0.15876	0.149:0.2689:0.0:0.5821	.	112;129	P55773;P55773-2	CCL23_HUMAN;.	N	129	ENSP00000293280:D129N	ENSP00000293280:D129N	D	-	1	0	CCL23	31364379	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.496000	0.06436	-1.005000	0.03417	-0.409000	0.06214	GAC		0.498	CCL23-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450228.1	NM_005064, NM_145898		6	33	0	0	0	0	6	33				
TEX2	55852	broad.mit.edu	37	17	62248511	62248511	+	Missense_Mutation	SNP	C	C	G	rs200065155	byFrequency	TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr17:62248511C>G	ENST00000583097.1	-	7	2792	c.2620G>C	c.(2620-2622)Gtg>Ctg	p.V874L	TEX2_ENST00000584379.1_Missense_Mutation_p.V874L|TEX2_ENST00000258991.3_Missense_Mutation_p.V881L			Q8IWB9	TEX2_HUMAN	testis expressed 2	874					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		GGCACAGCCACGCCCATGTCA	0.448																																						uc002jec.2		NA																	0				ovary(1)	1						c.(2620-2622)GTG>CTG		testis expressed sequence 2							126.0	105.0	112.0					17																	62248511		2203	4300	6503	SO:0001583	missense	55852				signal transduction|sphingolipid metabolic process	integral to membrane		g.chr17:62248511C>G	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"""transmembrane protein 96"""		"""testis expressed sequence 2"""			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.2620G>C	17.37:g.62248511C>G	ENSP00000462665:p.Val874Leu					TEX2_uc002jed.2_Missense_Mutation_p.V881L|TEX2_uc002jee.2_Missense_Mutation_p.V874L	p.V874L	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	7	2793	-			874					Q6AHZ5|Q8N3L0|Q9C0C5	Missense_Mutation	SNP	ENST00000583097.1	37	c.2620G>C		.	.	.	.	.	.	.	.	.	.	C	12.71	2.020603	0.35606	.	.	ENSG00000136478	ENST00000258991	T	0.42900	0.96	6.03	6.03	0.97812	Domain of unknown function DUF2404 (1);	0.198665	0.46145	D	0.000302	T	0.30355	0.0762	N	0.22421	0.69	0.43693	D	0.996149	B;B	0.24043	0.079;0.096	B;B	0.26517	0.07;0.069	T	0.07385	-1.0775	10	0.37606	T	0.19	-17.6499	11.444	0.50112	0.0:0.8931:0.0:0.1069	.	881;874	Q8IWB9-2;Q8IWB9	.;TEX2_HUMAN	L	881	ENSP00000258991:V881L	ENSP00000258991:V881L	V	-	1	0	TEX2	59602243	0.767000	0.28508	0.968000	0.41197	0.768000	0.43524	1.514000	0.35834	2.868000	0.98415	0.555000	0.69702	GTG		0.448	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		5	35	0	0	0	0	5	35				
RFNG	5986	broad.mit.edu	37	17	80007651	80007651	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr17:80007651C>T	ENST00000310496.4	-	6	737	c.730G>A	c.(730-732)Gtg>Atg	p.V244M	GPS1_ENST00000306823.6_5'Flank|RFNG_ENST00000429557.3_Missense_Mutation_p.V118M|GPS1_ENST00000320548.4_5'Flank|GPS1_ENST00000392358.2_5'Flank|RFNG_ENST00000584838.1_5'UTR|GPS1_ENST00000578552.1_5'Flank|GPS1_ENST00000355130.2_5'Flank	NM_002917.1	NP_002908.1	Q9Y644	RFNG_HUMAN	RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	244					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|pattern specification process (GO:0007389)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			AGCCCCTCCACGATGTAGCCA	0.667																																						uc002kdj.2		NA																	0				central_nervous_system(1)	1						c.(730-732)GTG>ATG		radical fringe							20.0	26.0	24.0					17																	80007651		2201	4299	6500	SO:0001583	missense	5986				cell differentiation|nervous system development|organ morphogenesis|pattern specification process	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	g.chr17:80007651C>T	BC069034	CCDS32773.1	17q25.3	2013-02-19	2006-11-13		ENSG00000169733	ENSG00000169733	2.4.1.222	"""Beta 3-glycosyltransferases"""	9974	protein-coding gene	gene with protein product		602578	"""radical fringe (Drosophila) homolog"", ""radical fringe homolog (Drosophila)"""			9187150	Standard	NM_002917		Approved		uc002kdj.3	Q9Y644	OTTHUMG00000178512	ENST00000310496.4:c.730G>A	17.37:g.80007651C>T	ENSP00000307971:p.Val244Met					RFNG_uc002kdh.2_Missense_Mutation_p.V29M|GPS1_uc002kdk.1_5'Flank|GPS1_uc002kdl.1_5'Flank|GPS1_uc010dij.1_5'Flank|GPS1_uc002kdm.1_5'Flank|GPS1_uc002kdn.1_5'Flank|GPS1_uc002kdo.1_5'Flank|GPS1_uc010wvh.1_5'Flank	p.V244M	NM_002917	NP_002908	Q9Y644	RFNG_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)		6	738	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		244			Lumenal (Potential).		O00588	Missense_Mutation	SNP	ENST00000310496.4	37	c.730G>A	CCDS32773.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.759959	0.69763	.	.	ENSG00000169733	ENST00000310496;ENST00000429557	T	0.68765	-0.35	3.9	1.66	0.24008	.	0.064040	0.64402	D	0.000010	T	0.75221	0.3820	M	0.80982	2.52	0.30397	N	0.780369	D	0.71674	0.998	D	0.65573	0.936	T	0.69551	-0.5115	10	0.45353	T	0.12	-15.2531	4.4687	0.11701	0.0:0.4256:0.0:0.5744	.	244	Q9Y644	RFNG_HUMAN	M	244;203	ENSP00000307971:V244M	ENSP00000307971:V244M	V	-	1	0	RFNG	77600940	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	4.473000	0.60196	0.763000	0.33175	0.561000	0.74099	GTG		0.667	RFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442263.1	NM_002917		7	18	0	0	0	0	7	18				
CCDC57	284001	broad.mit.edu	37	17	80129690	80129690	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr17:80129690T>C	ENST00000389641.4	-	12	1805	c.1769A>G	c.(1768-1770)aAg>aGg	p.K590R	CCDC57_ENST00000327026.3_5'UTR|CCDC57_ENST00000392343.3_Missense_Mutation_p.K590R|CCDC57_ENST00000392347.1_Missense_Mutation_p.K590R			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	590										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			AAACTTATGCTTTAGAGTTCG	0.448																																						uc002kdz.1		NA																	0				ovary(2)	2						c.(1768-1770)AAG>AGG		coiled-coil domain containing 57							125.0	128.0	127.0					17																	80129690		1910	4109	6019	SO:0001583	missense	284001							g.chr17:80129690T>C	BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.1769A>G	17.37:g.80129690T>C	ENSP00000374292:p.Lys590Arg					CCDC57_uc002kdx.1_Missense_Mutation_p.K590R|CCDC57_uc010dik.1_Missense_Mutation_p.K98R	p.K590R	NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)		13	2124	-	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		590			Potential.		A6NP51|A8MQC7|Q8IWG2|Q8TER3	Missense_Mutation	SNP	ENST00000389641.4	37	c.1769A>G		.	.	.	.	.	.	.	.	.	.	T	21.6	4.167330	0.78339	.	.	ENSG00000176155	ENST00000389641;ENST00000392347;ENST00000327026;ENST00000392343	T;T;T	0.48836	2.11;2.11;0.8	3.71	3.71	0.42584	.	0.000000	0.64402	D	0.000013	T	0.62612	0.2442	M	0.69823	2.125	0.45733	D	0.998634	D;D	0.76494	0.999;0.987	D;P	0.83275	0.996;0.795	T	0.61549	-0.7040	10	0.37606	T	0.19	-47.6651	9.0561	0.36405	0.0:0.0:0.0:1.0	.	590;590	Q2TAC2-2;Q2TAC2	.;CCD57_HUMAN	R	590;590;98;590	ENSP00000374292:K590R;ENSP00000376158:K590R;ENSP00000376154:K590R	ENSP00000315967:K98R	K	-	2	0	CCDC57	77722979	0.998000	0.40836	0.132000	0.22025	0.783000	0.44284	3.608000	0.54109	1.913000	0.55393	0.459000	0.35465	AAG		0.448	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000277182.3	NM_198082		19	68	0	0	0	0	19	68				
PTPN2	5771	broad.mit.edu	37	18	12817283	12817283	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr18:12817283G>A	ENST00000309660.5	-	6	670	c.577C>T	c.(577-579)Ctc>Ttc	p.L193F	PTPN2_ENST00000591497.1_Missense_Mutation_p.L164F|PTPN2_ENST00000591115.1_Missense_Mutation_p.L216F|PTPN2_ENST00000353319.4_Missense_Mutation_p.L193F|PTPN2_ENST00000327283.3_Missense_Mutation_p.L193F	NM_002828.3	NP_002819.2	P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type 2	193	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				B cell differentiation (GO:0030183)|cytokine-mediated signaling pathway (GO:0019221)|erythrocyte differentiation (GO:0030218)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemotaxis (GO:0050922)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of interleukin-2-mediated signaling pathway (GO:1902206)|negative regulation of interleukin-4-mediated signaling pathway (GO:1902215)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage colony-stimulating factor signaling pathway (GO:1902227)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of positive thymic T cell selection (GO:1902233)|negative regulation of prolactin signaling pathway (GO:1902212)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|negative regulation of tyrosine phosphorylation of Stat1 protein (GO:0042512)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|negative regulation of tyrosine phosphorylation of Stat6 protein (GO:0042527)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of gluconeogenesis (GO:0045722)|regulation of hepatocyte growth factor receptor signaling pathway (GO:1902202)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|syntaxin binding (GO:0019905)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				AAGAAATTGAGAAATGAAGCT	0.453																																						uc002krp.2		NA																	0				skin(2)	2						c.(577-579)CTC>TTC		protein tyrosine phosphatase, non-receptor type							77.0	79.0	78.0					18																	12817283		2203	4300	6503	SO:0001583	missense	5771				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway	endoplasmic reticulum|nucleoplasm	protein binding	g.chr18:12817283G>A	M25393	CCDS11863.1, CCDS11864.1, CCDS11865.1, CCDS59306.1	18p11.3-p11.2	2011-06-09			ENSG00000175354	ENSG00000175354		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9650	protein-coding gene	gene with protein product		176887		PTPT		2164224	Standard	NM_002828		Approved	TCELLPTP, TC-PTP, TCPTP	uc002krp.3	P17706	OTTHUMG00000131702	ENST00000309660.5:c.577C>T	18.37:g.12817283G>A	ENSP00000311857:p.Leu193Phe					PTPN2_uc002krl.2_Missense_Mutation_p.L193F|PTPN2_uc002krn.2_Missense_Mutation_p.L216F|PTPN2_uc002kro.2_Missense_Mutation_p.L193F|PTPN2_uc002krm.2_Missense_Mutation_p.L193F	p.L193F	NM_002828	NP_002819	P17706	PTN2_HUMAN			6	771	-		Lung NSC(161;8.94e-06)	193			Tyrosine-protein phosphatase.		A8K955|A8MXU3|K7ENG3|Q96AU5|Q96HR2	Missense_Mutation	SNP	ENST00000309660.5	37	c.577C>T	CCDS11865.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.925336	0.92319	.	.	ENSG00000175354	ENST00000327283;ENST00000353319;ENST00000341361;ENST00000309660	D;D;D	0.86230	-2.09;-2.09;-2.09	5.28	5.28	0.74379	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.140493	0.32624	N	0.005850	D	0.94175	0.8131	M	0.90595	3.13	0.80722	D	1	D;P;D;P;P	0.56746	0.958;0.746;0.977;0.885;0.786	P;P;P;P;P	0.59948	0.815;0.484;0.866;0.537;0.618	D	0.95201	0.8317	10	0.87932	D	0	.	18.8968	0.92426	0.0:0.0:1.0:0.0	.	193;193;170;193;193	P17706;P17706-2;Q59F91;Q96AU5;A8K3N4	PTN2_HUMAN;.;.;.;.	F	193;193;170;193	ENSP00000320298:L193F;ENSP00000320546:L193F;ENSP00000311857:L193F	ENSP00000311857:L193F	L	-	1	0	PTPN2	12807283	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.772000	0.98984	2.447000	0.82792	0.591000	0.81541	CTC		0.453	PTPN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254613.3	NM_002828, NM_080422, NM_080423		19	64	0	0	0	0	19	64				
CHST9	83539	broad.mit.edu	37	18	24497019	24497019	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr18:24497019C>A	ENST00000284224.8	-	6	813	c.536G>T	c.(535-537)aGg>aTg	p.R179M	AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000568797.1_RNA|CHST9_ENST00000581714.1_Missense_Mutation_p.R179M	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	179					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					AAGGAAAGACCTTCGTTTCTC	0.383																																						uc002kwd.2		NA																	0				ovary(2)|skin(1)	3						c.(535-537)AGG>ATG		GalNAc-4-sulfotransferase 2							127.0	121.0	123.0					18																	24497019		1847	4084	5931	SO:0001583	missense	83539				carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr18:24497019C>A	AF239821	CCDS42422.1, CCDS58618.1	18q11.2	2011-04-28			ENSG00000154080	ENSG00000154080		"""Sulfotransferases, membrane-bound"""	19898	protein-coding gene	gene with protein product		610191				11139592, 11445554	Standard	NM_031422		Approved	GALNAC4ST-2, GALNAC-4-ST2	uc002kwe.4	Q7L1S5		ENST00000284224.8:c.536G>T	18.37:g.24497019C>A	ENSP00000284224:p.Arg179Met					C18orf16_uc002kwb.2_Intron|C18orf16_uc010xbm.1_Intron|CHST9_uc002kwc.2_Missense_Mutation_p.R94M|CHST9_uc002kwe.2_Missense_Mutation_p.R179M	p.R179M	NM_031422	NP_113610	Q7L1S5	CHST9_HUMAN			5	734	-	all_lung(6;0.0145)|Ovarian(20;0.124)		179			Lumenal (Potential).		Q6UX69|Q9BXH3|Q9BXH4|Q9BZW9	Missense_Mutation	SNP	ENST00000284224.8	37	c.536G>T	CCDS42422.1	.	.	.	.	.	.	.	.	.	.	C	12.86	2.064589	0.36470	.	.	ENSG00000154080	ENST00000284224	T	0.68903	-0.36	6.16	5.3	0.74995	.	0.067602	0.64402	D	0.000009	T	0.72104	0.3419	L	0.34521	1.04	0.18873	N	0.999986	D	0.76494	0.999	D	0.72075	0.976	T	0.65635	-0.6120	10	0.87932	D	0	-19.2398	11.665	0.51368	0.0:0.8652:0.0:0.1348	.	179	Q7L1S5	CHST9_HUMAN	M	179	ENSP00000284224:R179M	ENSP00000284224:R179M	R	-	2	0	CHST9	22751017	0.006000	0.16342	0.952000	0.39060	0.972000	0.66771	1.736000	0.38187	1.626000	0.50381	0.650000	0.86243	AGG		0.383	CHST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446549.1	NM_031422		17	82	1	0	1.15e-07	1.29e-07	17	82				
HNRNPL	3191	broad.mit.edu	37	19	39329127	39329127	+	Silent	SNP	C	C	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr19:39329127C>T	ENST00000221419.5	-	10	1833	c.1467G>A	c.(1465-1467)gaG>gaA	p.E489E	HNRNPL_ENST00000600873.1_Silent_p.E356E|AC104534.3_ENST00000594769.1_Missense_Mutation_p.S106N	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	489					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			TGGCTGCCTGCTCTGGGGTGG	0.572																																						uc010xul.1		NA																	0					0						c.(1465-1467)GAG>GAA		heterogeneous nuclear ribonucleoprotein L							76.0	64.0	68.0					19																	39329127		2203	4297	6500	SO:0001819	synonymous_variant	3191				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding	g.chr19:39329127C>T	X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"""RNA binding motif (RRM) containing"""	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.1467G>A	19.37:g.39329127C>T						HNRNPL_uc010ege.1_Intron|HNRNPL_uc002ojj.1_Silent_p.E145E|HNRNPL_uc002ojo.1_Silent_p.E67E|HNRNPL_uc002ojk.2_Silent_p.E145E|HNRNPL_uc002ojl.2_Silent_p.E145E|HNRNPL_uc010xum.1_Silent_p.E356E	p.E489E	NM_001533	NP_001524	P14866	HNRPL_HUMAN	Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)		10	1478	-	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		489					A6ND69|A6NIT8|Q9H3P3	Silent	SNP	ENST00000221419.5	37	c.1467G>A	CCDS33015.1																																																																																				0.572	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462670.1			5	21	0	0	0	0	5	21				
HNRNPUL1	11100	broad.mit.edu	37	19	41807560	41807560	+	Silent	SNP	C	C	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr19:41807560C>T	ENST00000392006.3	+	11	1811	c.1638C>T	c.(1636-1638)acC>acT	p.T546T	HNRNPUL1_ENST00000602130.1_Silent_p.T546T|HNRNPUL1_ENST00000595018.1_Silent_p.T446T|HNRNPUL1_ENST00000378215.4_Silent_p.T432T|HNRNPUL1_ENST00000263367.3_Silent_p.T457T|HNRNPUL1_ENST00000593587.1_Silent_p.T446T|HNRNPUL1_ENST00000352456.3_Silent_p.T446T	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	546	Necessary for interaction with BRD7 and transcriptional activation.|Necessary for interaction with TP53.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						TAAAGCGAACCGACGAGGAAG	0.483																																						uc002oqb.3		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1636-1638)ACC>ACT		heterogeneous nuclear ribonucleoprotein U-like 1							138.0	116.0	124.0					19																	41807560		2203	4300	6503	SO:0001819	synonymous_variant	11100				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding	g.chr19:41807560C>T	AJ007509	CCDS12576.1, CCDS12577.1	19q13.2	2013-06-12		2008-04-18	ENSG00000105323	ENSG00000105323			17011	protein-coding gene	gene with protein product	"""E1B 55kDa associated protein 5"""	605800		HNRPUL1		9733834, 12489984	Standard	XM_005258459		Approved	E1B-AP5, E1BAP5, FLJ12944	uc002oqb.4	Q9BUJ2	OTTHUMG00000182740	ENST00000392006.3:c.1638C>T	19.37:g.41807560C>T						CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Silent_p.T446T|HNRNPUL1_uc002oqa.3_Silent_p.T446T|HNRNPUL1_uc010ehm.2_Silent_p.T546T|HNRNPUL1_uc002oqc.3_Silent_p.T432T|HNRNPUL1_uc002oqe.3_Intron|HNRNPUL1_uc002oqd.3_Silent_p.T446T|HNRNPUL1_uc010ehn.2_Silent_p.T446T|HNRNPUL1_uc010eho.2_Silent_p.T446T|HNRNPUL1_uc010xvy.1_Silent_p.T446T|HNRNPUL1_uc010ehp.2_Silent_p.T402T|HNRNPUL1_uc002oqf.3_5'Flank	p.T546T	NM_007040	NP_008971	Q9BUJ2	HNRL1_HUMAN			11	1927	+			546			Necessary for interaction with TP53.|Necessary for interaction with BRD7 and transcriptional activation.		B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Silent	SNP	ENST00000392006.3	37	c.1638C>T	CCDS12576.1																																																																																				0.483	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463406.1	NM_144732, NM_007040		9	53	0	0	0	0	9	53				
NT5C1B	93034	broad.mit.edu	37	2	18767631	18767631	+	Silent	SNP	C	C	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr2:18767631C>T	ENST00000359846.2	-	4	404	c.327G>A	c.(325-327)aaG>aaA	p.K109K	NT5C1B_ENST00000304081.4_Silent_p.K49K|NT5C1B_ENST00000460052.1_5'UTR|RNU6-1215P_ENST00000384441.1_RNA|NT5C1B_ENST00000600945.1_Silent_p.K109K|NT5C1B-RDH14_ENST00000532967.1_Silent_p.K109K	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	109	Ser-rich.				nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				GAGAGTCTGTCTTCCGCAGTG	0.498																																						uc002rcz.2		NA																	0				skin(2)|ovary(1)	3						c.(325-327)AAG>AAA		5' nucleotidase, cytosolic IB isoform 1							121.0	106.0	111.0					2																	18767631		2203	4300	6503	SO:0001819	synonymous_variant	93034				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding	g.chr2:18767631C>T	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.327G>A	2.37:g.18767631C>T						NT5C1B_uc002rcy.2_Silent_p.K109K|NT5C1B_uc010exr.2_Silent_p.K49K|NT5C1B_uc010yju.1_Silent_p.K49K|NT5C1B_uc002rda.2_Silent_p.K49K|NT5C1B_uc010yjv.1_Silent_p.K126K|NT5C1B_uc010yjw.1_Silent_p.K92K|NT5C1B_uc010exs.2_Silent_p.K109K|NT5C1B_uc002rdb.1_5'Flank	p.K109K	NM_001002006	NP_001002006	Q96P26	5NT1B_HUMAN			4	431	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)	109			Ser-rich.		B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Silent	SNP	ENST00000359846.2	37	c.327G>A	CCDS33150.1																																																																																				0.498	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1			6	46	0	0	0	0	6	46				
HADHA	3030	broad.mit.edu	37	2	26438045	26438045	+	Splice_Site	SNP	C	C	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr2:26438045C>T	ENST00000380649.3	-	8	806		c.e8-1		HADHA_ENST00000457468.2_Splice_Site	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit						cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTCCTGGTCCTATAAAAATG	0.438																																						uc002rgy.2		NA																	0				ovary(1)	1						c.e8-1		mitochondrial trifunctional protein, alpha	NADH(DB00157)						138.0	139.0	139.0					2																	26438045		2203	4300	6503	SO:0001630	splice_region_variant	3030				fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding	g.chr2:26438045C>T	D16480	CCDS1721.1	2p23	2014-09-17	2010-04-30		ENSG00000084754	ENSG00000084754	1.1.1.211, 4.2.1.17		4801	protein-coding gene	gene with protein product	"""gastrin-binding protein"", ""long-chain-3-hydroxyacyl-CoA dehydrogenase"", ""long-chain 2-enoyl-CoA hydratase"", ""mitochondrial trifunctional protein, alpha subunit"""	600890	"""hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit"""			9605857, 7918661	Standard	NM_000182		Approved	GBP, LCEH, LCHAD, MTPA	uc002rgy.3	P40939	OTTHUMG00000096979	ENST00000380649.3:c.677-1G>A	2.37:g.26438045C>T						HADHA_uc010yks.1_Splice_Site_p.G139_splice|HADHA_uc010ykt.1_Splice_Site_p.G139_splice	p.G226_splice	NM_000182	NP_000173	P40939	ECHA_HUMAN			8	807	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)							B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Splice_Site	SNP	ENST00000380649.3	37	c.677_splice	CCDS1721.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.899211	0.72754	.	.	ENSG00000084754	ENST00000380649;ENST00000457468	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1464	0.89656	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HADHA	26291549	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	6.972000	0.76110	2.890000	0.99128	0.585000	0.79938	.		0.438	HADHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214051.1	NM_000182	Intron	23	105	0	0	0	0	23	105				
ALK	238	broad.mit.edu	37	2	29456500	29456500	+	Silent	SNP	A	A	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr2:29456500A>T	ENST00000389048.3	-	14	3324	c.2418T>A	c.(2416-2418)cgT>cgA	p.R806R	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	806					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R806R(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	TTCTGTTCACACGGATTTCTT	0.488			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													uc002rmy.2		NA	yes	Dom	yes	Familial neuroblastoma	2	2p23	238	T|Mis|A	anaplastic lymphoma kinase (Ki-1)			"""L, E, M"""	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	neuroblastoma	ALCL|NSCLC|Neuroblastoma	NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	1	Substitution - coding silent(1)		breast(1)	haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218						c.(2416-2418)CGT>CGA		anaplastic lymphoma kinase precursor	Adenosine triphosphate(DB00171)						197.0	176.0	183.0					2																	29456500		2203	4300	6503	SO:0001819	synonymous_variant	238	Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29456500A>T	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.2418T>A	2.37:g.29456500A>T							p.R806R	NM_004304	NP_004295	Q9UM73	ALK_HUMAN			14	3325	-	Acute lymphoblastic leukemia(172;0.155)		806			Extracellular (Potential).		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Silent	SNP	ENST00000389048.3	37	c.2418T>A	CCDS33172.1																																																																																				0.488	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		26	70	0	0	0	0	26	70				
ALMS1	7840	broad.mit.edu	37	2	73717132	73717132	+	Silent	SNP	A	A	G			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr2:73717132A>G	ENST00000264448.6	+	10	8154	c.8043A>G	c.(8041-8043)gaA>gaG	p.E2681E	ALMS1_ENST00000409009.1_Silent_p.E2639E|AC096546.1_ENST00000408160.1_RNA	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2681					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GGCTGTCAGAATTAGTAGAAC	0.403																																						uc002sje.1		NA																	0				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(8047-8049)GAA>GAG		Alstrom syndrome 1							162.0	150.0	154.0					2																	73717132		1860	4095	5955	SO:0001819	synonymous_variant	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73717132A>G	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.8043A>G	2.37:g.73717132A>G						ALMS1_uc002sjf.1_Silent_p.E2639E|ALMS1_uc002sjg.2_Silent_p.E2069E|ALMS1_uc002sjh.1_Silent_p.E2069E	p.E2683E	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			12	8160	+			2681					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	ENST00000264448.6	37	c.8049A>G	CCDS42697.1																																																																																				0.403	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		24	143	0	0	0	0	24	143				
SLC9A2	6549	broad.mit.edu	37	2	103321047	103321047	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr2:103321047G>C	ENST00000233969.2	+	10	2032	c.1890G>C	c.(1888-1890)gaG>gaC	p.E630D		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	630					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						ACACAAGTGAGAGACAAGCCA	0.428																																						uc002tca.2		NA																	0				central_nervous_system(3)|skin(3)|breast(2)	8						c.(1888-1890)GAG>GAC		solute carrier family 9 (sodium/hydrogen							89.0	82.0	85.0					2																	103321047		2203	4300	6503	SO:0001583	missense	6549					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr2:103321047G>C		CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"""Solute carriers"""	11072	protein-coding gene	gene with protein product		600530	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 2"""	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.1890G>C	2.37:g.103321047G>C	ENSP00000233969:p.Glu630Asp						p.E630D	NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN			10	2032	+			630			Cytoplasmic (Potential).		B2RMS2	Missense_Mutation	SNP	ENST00000233969.2	37	c.1890G>C	CCDS2062.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.766338	0.49574	.	.	ENSG00000115616	ENST00000233969	T	0.51071	0.72	5.25	4.36	0.52297	.	1.230650	0.05358	N	0.533124	T	0.48484	0.1502	L	0.50993	1.605	0.33806	D	0.627291	P	0.44478	0.836	B	0.43508	0.422	T	0.51252	-0.8729	10	0.41790	T	0.15	.	9.5979	0.39584	0.21:0.0:0.79:0.0	.	630	Q9UBY0	SL9A2_HUMAN	D	630	ENSP00000233969:E630D	ENSP00000233969:E630D	E	+	3	2	SLC9A2	102687479	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	0.504000	0.22626	2.594000	0.87642	0.655000	0.94253	GAG		0.428	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253292.2			5	28	0	0	0	0	5	28				
GCC2	9648	broad.mit.edu	37	2	109088215	109088215	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr2:109088215G>C	ENST00000309863.6	+	6	3144	c.2430G>C	c.(2428-2430)gaG>gaC	p.E810D		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	810					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AAGTATTAGAGTTAGAAAAAG	0.363																																						uc002tec.2		NA																	0				ovary(1)	1						c.(2428-2430)GAG>GAC		GRIP and coiled-coil domain-containing 2							61.0	64.0	63.0					2																	109088215		2203	4300	6503	SO:0001583	missense	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109088215G>C	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.2430G>C	2.37:g.109088215G>C	ENSP00000307939:p.Glu810Asp					GCC2_uc002ted.2_Missense_Mutation_p.E709D	p.E810D	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN			6	2584	+			810			Potential.		A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	c.2430G>C	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	G	8.923	0.961480	0.18583	.	.	ENSG00000135968	ENST00000309863;ENST00000409896;ENST00000393318	T	0.35048	1.33	5.45	-1.47	0.08772	.	0.445678	0.21955	N	0.066676	T	0.27900	0.0687	M	0.62723	1.935	0.09310	N	0.999996	B	0.10296	0.003	B	0.04013	0.001	T	0.16041	-1.0416	10	0.38643	T	0.18	.	5.1432	0.14971	0.5123:0.0:0.2332:0.2545	.	810	Q8IWJ2	GCC2_HUMAN	D	810;773;554	ENSP00000307939:E810D	ENSP00000307939:E810D	E	+	3	2	GCC2	108454647	0.119000	0.22226	0.154000	0.22540	0.371000	0.29859	-0.277000	0.08502	-0.517000	0.06461	-0.142000	0.14014	GAG		0.363	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		18	55	0	0	0	0	18	55				
SEC23B	10483	broad.mit.edu	37	20	18511339	18511339	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr20:18511339G>T	ENST00000336714.3	+	10	1557	c.1125G>T	c.(1123-1125)atG>atT	p.M375I	SEC23B_ENST00000262544.2_Missense_Mutation_p.M375I|SEC23B_ENST00000377465.1_Missense_Mutation_p.M375I|SEC23B_ENST00000377475.3_Missense_Mutation_p.M375I	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	375					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						ACATGGTAATGGGAGATTCTT	0.343																																						uc002wqz.1		NA																	0				ovary(1)	1						c.(1123-1125)ATG>ATT		Sec23 homolog B							93.0	92.0	92.0					20																	18511339		2203	4300	6503	SO:0001583	missense	10483				ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding	g.chr20:18511339G>T	X97065	CCDS13137.1	20p11.23	2010-02-09	2001-11-28		ENSG00000101310	ENSG00000101310			10702	protein-coding gene	gene with protein product		610512	"""Sec23 (S. cerevisiae) homolog B"", ""congenital dyserythropoietic anemia, type II"""	CDAN2		8898360, 10329445, 19621418	Standard	NM_032985		Approved	CDA-II, CDAII, HEMPAS	uc002wrb.2	Q15437	OTTHUMG00000031976	ENST00000336714.3:c.1125G>T	20.37:g.18511339G>T	ENSP00000338844:p.Met375Ile					SEC23B_uc002wra.1_Missense_Mutation_p.M375I|SEC23B_uc002wrb.1_Missense_Mutation_p.M375I|SEC23B_uc010zsb.1_Missense_Mutation_p.M357I|SEC23B_uc002wrc.1_Missense_Mutation_p.M375I	p.M375I	NM_006363	NP_006354	Q15437	SC23B_HUMAN			10	1568	+			375					D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Missense_Mutation	SNP	ENST00000336714.3	37	c.1125G>T	CCDS13137.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079931	0.55753	.	.	ENSG00000101310	ENST00000336714;ENST00000262544;ENST00000377475;ENST00000377465	T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23	5.3	5.3	0.74995	Sec23/Sec24, trunk domain (1);	0.038518	0.85682	D	0.000000	T	0.79393	0.4438	M	0.84219	2.685	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.17722	0.019;0.012	T	0.77370	-0.2613	10	0.62326	D	0.03	-27.0513	13.128	0.59366	0.0:0.0:0.8403:0.1597	.	357;375	B4DJW8;Q15437	.;SC23B_HUMAN	I	375	ENSP00000338844:M375I;ENSP00000262544:M375I;ENSP00000366695:M375I;ENSP00000366685:M375I	ENSP00000262544:M375I	M	+	3	0	SEC23B	18459339	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.615000	0.83006	2.769000	0.95229	0.655000	0.94253	ATG		0.343	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078184.5			6	73	1	0	1.07e-07	1.21e-07	6	73				
NDRG3	57446	broad.mit.edu	37	20	35293461	35293461	+	Silent	SNP	T	T	G			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr20:35293461T>G	ENST00000349004.1	-	12	879	c.798A>C	c.(796-798)gcA>gcC	p.A266A	NDRG3_ENST00000359675.2_Silent_p.A254A|NDRG3_ENST00000373773.3_Silent_p.A171A|NDRG3_ENST00000540765.1_Silent_p.A162A|NDRG3_ENST00000373803.2_Silent_p.A266A	NM_032013.3	NP_114402.1	Q9UGV2	NDRG3_HUMAN	NDRG family member 3	266					cell differentiation (GO:0030154)|negative regulation of cell growth (GO:0030308)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				CAGCCTCAACTGCAGGCGAAT	0.458																																						uc002xfw.2		NA																	0				ovary(1)	1						c.(796-798)GCA>GCC		N-myc downstream regulated gene 3 isoform a							191.0	176.0	181.0					20																	35293461		2203	4300	6503	SO:0001819	synonymous_variant	57446				cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm		g.chr20:35293461T>G	AL031662	CCDS13284.1, CCDS13285.1	20q11.21-q11.23	2008-07-28			ENSG00000101079	ENSG00000101079			14462	protein-coding gene	gene with protein product		605273				10831399, 17998568	Standard	NM_032013		Approved		uc002xfw.3	Q9UGV2	OTTHUMG00000032398	ENST00000349004.1:c.798A>C	20.37:g.35293461T>G						NDRG3_uc002xfx.2_Silent_p.A254A|NDRG3_uc010zvq.1_Silent_p.A171A|NDRG3_uc010zvr.1_Silent_p.A154A	p.A266A	NM_032013	NP_114402	Q9UGV2	NDRG3_HUMAN			12	880	-		Myeloproliferative disorder(115;0.00878)	266					A2A2S8|E1P5U7|E1P5U8|Q5TH32|Q96PL8|Q96SM2|Q9BXY7|Q9H3N7|Q9H411|Q9H8J6	Silent	SNP	ENST00000349004.1	37	c.798A>C	CCDS13285.1																																																																																				0.458	NDRG3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079053.2			46	93	0	0	0	0	46	93				
MROH8	140699	broad.mit.edu	37	20	35757571	35757571	+	Splice_Site	SNP	C	C	G			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr20:35757571C>G	ENST00000400441.3	-	14	1649		c.e14-1		MROH8_ENST00000217333.8_Splice_Site|MROH8_ENST00000441008.2_Splice_Site			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8																		AGCCAGGTGCCTGGAAATCCC	0.512																																						uc010zvu.1		NA																	0					0						c.e16-1		hypothetical protein LOC140699 isoform 1							35.0	34.0	34.0					20																	35757571		1906	4123	6029	SO:0001630	splice_region_variant	140699							g.chr20:35757571C>G	AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"""maestro heat-like repeat containing"""	16125	protein-coding gene	gene with protein product	"""hypothetical protein LOC140699"""		"""chromosome 20 open reading frame 131"", ""chromosome 20 open reading frame 132"""	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.1650-1G>C	20.37:g.35757571C>G						C20orf132_uc002xgk.2_Splice_Site_p.R182_splice|C20orf132_uc002xgm.2_Intron|C20orf132_uc002xgn.2_Intron	p.R560_splice	NM_152503	NP_689716	Q9H579	CT132_HUMAN			16	1771	-		Myeloproliferative disorder(115;0.00878)						Q5JYQ6	Splice_Site	SNP	ENST00000400441.3	37	c.1680_splice		.	.	.	.	.	.	.	.	.	.	C	17.71	3.455557	0.63401	.	.	ENSG00000101353	ENST00000343811;ENST00000417458;ENST00000441008;ENST00000400441;ENST00000217333;ENST00000421643;ENST00000400440	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3445	0.66651	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C20orf132	35190985	1.000000	0.71417	0.980000	0.43619	0.805000	0.45488	3.342000	0.52159	2.463000	0.83235	0.591000	0.81541	.		0.512	MROH8-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152503	Intron	10	14	0	0	0	0	10	14				
CHD6	84181	broad.mit.edu	37	20	40040857	40040857	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr20:40040857G>C	ENST00000373233.3	-	36	7355	c.7178C>G	c.(7177-7179)cCt>cGt	p.P2393R	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2393					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TAATTTTCCAGGTTCTTTACA	0.488																																						uc002xka.1		NA																	0				ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14						c.(7177-7179)CCT>CGT		chromodomain helicase DNA binding protein 6							121.0	112.0	115.0					20																	40040857		2203	4300	6503	SO:0001583	missense	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40040857G>C	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.7178C>G	20.37:g.40040857G>C	ENSP00000362330:p.Pro2393Arg					CHD6_uc002xjz.1_5'UTR	p.P2393R	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN			36	7356	-		Myeloproliferative disorder(115;0.00425)	2393					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.7178C>G	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.813922	0.90790	.	.	ENSG00000124177	ENST00000373233	T	0.47869	0.83	5.16	5.16	0.70880	.	0.131035	0.35407	N	0.003231	T	0.60051	0.2239	M	0.66939	2.045	0.80722	D	1	P	0.52577	0.954	P	0.51135	0.66	T	0.64997	-0.6275	10	0.87932	D	0	-5.264	18.8271	0.92123	0.0:0.0:1.0:0.0	.	2393	Q8TD26	CHD6_HUMAN	R	2393	ENSP00000362330:P2393R	ENSP00000362330:P2393R	P	-	2	0	CHD6	39474271	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.263000	0.95617	2.693000	0.91896	0.655000	0.94253	CCT		0.488	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			11	70	0	0	0	0	11	70				
LMCD1	29995	broad.mit.edu	37	3	8579047	8579047	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr3:8579047A>G	ENST00000157600.3	+	3	540	c.308A>G	c.(307-309)aAc>aGc	p.N103S	LMCD1_ENST00000397386.3_Intron|LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000454244.1_Missense_Mutation_p.N30S|LMCD1_ENST00000535732.1_Missense_Mutation_p.N103S	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	103	PET. {ECO:0000255|PROSITE- ProRule:PRU00636}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|regulation of cardiac muscle hypertrophy (GO:0010611)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		ATCATGACCAACCCTATTGCT	0.552																																						uc003bqq.2		NA																	0				ovary(1)	1						c.(307-309)AAC>AGC		LIM and cysteine-rich domains 1							162.0	170.0	167.0					3																	8579047		2203	4300	6503	SO:0001583	missense	29995				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding	g.chr3:8579047A>G	AF169284	CCDS33688.1, CCDS63533.1, CCDS63534.1	3p26-p24	2008-07-18			ENSG00000071282	ENSG00000071282			6633	protein-coding gene	gene with protein product	"""dyxin"""	604859				10662546	Standard	NM_001278233		Approved		uc003bqq.4	Q9NZU5	OTTHUMG00000154971	ENST00000157600.3:c.308A>G	3.37:g.8579047A>G	ENSP00000157600:p.Asn103Ser					LMCD1_uc011atd.1_Missense_Mutation_p.N30S|LMCD1_uc011ate.1_Intron|LMCD1_uc011atf.1_Missense_Mutation_p.N30S	p.N103S	NM_014583	NP_055398	Q9NZU5	LMCD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.124)	3	422	+			103			PET.		B4DG80	Missense_Mutation	SNP	ENST00000157600.3	37	c.308A>G	CCDS33688.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.792273	0.90453	.	.	ENSG00000071282	ENST00000157600;ENST00000415597;ENST00000535732;ENST00000454244;ENST00000426878	D;D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06;-2.06	5.75	5.75	0.90469	PET domain (2);	0.000000	0.85682	D	0.000000	D	0.87845	0.6280	L	0.56396	1.775	0.80722	D	1	D;D	0.61697	0.99;0.977	P;P	0.55087	0.768;0.698	D	0.86117	0.1566	10	0.28530	T	0.3	-38.3592	14.8947	0.70636	1.0:0.0:0.0:0.0	.	103;103	F5GX84;Q9NZU5	.;LMCD1_HUMAN	S	103;109;103;30;60	ENSP00000157600:N103S;ENSP00000400555:N109S;ENSP00000441100:N103S;ENSP00000396515:N30S;ENSP00000411222:N60S	ENSP00000157600:N103S	N	+	2	0	LMCD1	8554047	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.819000	0.91997	2.194000	0.70268	0.533000	0.62120	AAC		0.552	LMCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337854.1	NM_014583		10	138	0	0	0	0	10	138				
ZNF445	353274	broad.mit.edu	37	3	44488834	44488834	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr3:44488834G>C	ENST00000396077.2	-	8	2676	c.2329C>G	c.(2329-2331)Ctc>Gtc	p.L777V	ZNF445_ENST00000425708.2_Missense_Mutation_p.L777V	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	777					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		TGGATGAGGAGGAATGAGTGA	0.512																																						uc003cnf.2		NA																	0				ovary(1)	1						c.(2329-2331)CTC>GTC		zinc finger protein 445							61.0	59.0	60.0					3																	44488834		2203	4300	6503	SO:0001583	missense	353274				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44488834G>C	AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21018	protein-coding gene	gene with protein product			"""zinc finger protein 168"""	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.2329C>G	3.37:g.44488834G>C	ENSP00000379387:p.Leu777Val					ZNF445_uc011azv.1_Missense_Mutation_p.L765V|ZNF445_uc011azw.1_Missense_Mutation_p.L777V	p.L777V	NM_181489	NP_852466	P59923	ZN445_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)	8	2677	-			777			C2H2-type 8.		Q3MJD1	Missense_Mutation	SNP	ENST00000396077.2	37	c.2329C>G	CCDS2713.1	.	.	.	.	.	.	.	.	.	.	g	12.14	1.847555	0.32606	.	.	ENSG00000185219	ENST00000425708;ENST00000396077	T;T	0.52983	0.64;0.64	3.61	2.74	0.32292	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43919	D	0.000511	T	0.67154	0.2863	M	0.84219	2.685	0.32285	N	0.567079	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.985	T	0.75465	-0.3308	10	0.87932	D	0	.	10.8057	0.46516	0.099:0.0:0.901:0.0	.	765;777	B7ZKX2;P59923	.;ZN445_HUMAN	V	777	ENSP00000413073:L777V;ENSP00000379387:L777V	ENSP00000379387:L777V	L	-	1	0	ZNF445	44463838	1.000000	0.71417	0.863000	0.33907	0.128000	0.20619	5.215000	0.65241	1.111000	0.41721	-0.389000	0.06534	CTC		0.512	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2	NM_181489		21	20	0	0	0	0	21	20				
CCDC36	339834	broad.mit.edu	37	3	49293597	49293597	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr3:49293597A>G	ENST00000438782.1	+	8	903	c.667A>G	c.(667-669)Aac>Gac	p.N223D	CCDC36_ENST00000452691.2_Missense_Mutation_p.N223D|CCDC36_ENST00000296449.5_Missense_Mutation_p.N223D			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	223										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		AATGAAGTCCAACCTGAAGCA	0.473																																						uc003cwk.2		NA																	0				ovary(1)|kidney(1)	2						c.(667-669)AAC>GAC		coiled-coil domain containing 36							118.0	120.0	119.0					3																	49293597		2203	4300	6503	SO:0001583	missense	339834							g.chr3:49293597A>G	AK058049	CCDS33755.2	3p21.31	2009-08-06			ENSG00000173421	ENSG00000173421			27945	protein-coding gene	gene with protein product	"""cancer/testis antigen 74"""						Standard	NM_178173		Approved	FLJ25320, CT74	uc011bck.1	Q8IYA8	OTTHUMG00000155920	ENST00000438782.1:c.667A>G	3.37:g.49293597A>G	ENSP00000391788:p.Asn223Asp					CCDC36_uc011bck.1_Missense_Mutation_p.N223D	p.N223D	NM_178173	NP_835467	Q8IYA8	CCD36_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)	10	1054	+			223			Potential.		C9JJL0|Q05DG9|Q96LP7	Missense_Mutation	SNP	ENST00000438782.1	37	c.667A>G	CCDS33755.2	.	.	.	.	.	.	.	.	.	.	A	8.163	0.789872	0.16258	.	.	ENSG00000173421	ENST00000296449;ENST00000438782;ENST00000452691;ENST00000309062	T;T;T	0.14640	2.49;2.49;2.49	5.31	0.233	0.15386	.	0.923075	0.09177	N	0.838021	T	0.06416	0.0165	N	0.08118	0	0.09310	N	0.999997	B	0.06786	0.001	B	0.09377	0.004	T	0.44452	-0.9327	10	0.21014	T	0.42	-0.0014	7.5687	0.27894	0.6212:0.0:0.3788:0.0	.	223	Q8IYA8	CCD36_HUMAN	D	223;223;223;203	ENSP00000296449:N223D;ENSP00000391788:N223D;ENSP00000407837:N223D	ENSP00000296449:N223D	N	+	1	0	CCDC36	49268601	0.019000	0.18553	0.085000	0.20634	0.788000	0.44548	0.133000	0.15912	-0.084000	0.12595	0.482000	0.46254	AAC		0.473	CCDC36-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342332.1	NM_178173		34	58	0	0	0	0	34	58				
BSN	8927	broad.mit.edu	37	3	49699628	49699628	+	Missense_Mutation	SNP	T	T	G	rs530761003	byFrequency	TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr3:49699628T>G	ENST00000296452.4	+	6	10464	c.10350T>G	c.(10348-10350)agT>agG	p.S3450R		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3450					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CTGCATACAGTGGGGAGAAGC	0.607													T|||	123	0.0245607	0.0113	0.0303	5008	,	,		12425	0.0317		0.0288	False		,,,				2504	0.0266					uc003cxe.3		NA																	0				ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(10348-10350)AGT>AGG		bassoon protein							37.0	44.0	42.0					3																	49699628		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49699628T>G	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.10350T>G	3.37:g.49699628T>G	ENSP00000296452:p.Ser3450Arg						p.S3450R	NM_003458	NP_003449	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	6	10464	+			3450					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.10350T>G	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	T	8.127	0.782201	0.16189	.	.	ENSG00000164061	ENST00000296452	T	0.17691	2.26	5.81	-4.33	0.03677	.	0.166320	0.53938	D	0.000049	T	0.10208	0.0250	L	0.36672	1.1	0.31462	N	0.669397	B	0.31485	0.325	B	0.22753	0.041	T	0.04153	-1.0973	10	0.72032	D	0.01	-1.8476	11.1325	0.48356	0.0:0.5044:0.3303:0.1653	.	3450	Q9UPA5	BSN_HUMAN	R	3450	ENSP00000296452:S3450R	ENSP00000296452:S3450R	S	+	3	2	BSN	49674632	0.996000	0.38824	0.552000	0.28243	0.542000	0.35054	0.368000	0.20399	-0.679000	0.05217	-0.290000	0.09829	AGT		0.607	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		5	36	0	0	0	0	5	36				
A4GNT	51146	broad.mit.edu	37	3	137843343	137843343	+	Silent	SNP	G	G	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr3:137843343G>T	ENST00000236709.3	-	3	987	c.786C>A	c.(784-786)ccC>ccA	p.P262P		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	262					carbohydrate metabolic process (GO:0005975)|glycoprotein biosynthetic process (GO:0009101)|negative regulation of epithelial cell proliferation (GO:0050680)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylglucosaminyltransferase activity (GO:0008375)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						GATAGGAGATGGGGTAAAATC	0.483																																						uc003ers.2		NA																	0				central_nervous_system(1)	1						c.(784-786)CCC>CCA		alpha-1,4-N-acetylglucosaminyltransferase							79.0	79.0	79.0					3																	137843343		2203	4300	6503	SO:0001819	synonymous_variant	51146				protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity	g.chr3:137843343G>T	AF141315	CCDS3097.1	3p14.3	2010-12-14			ENSG00000118017	ENSG00000118017			17968	protein-coding gene	gene with protein product						10430883	Standard	NM_016161		Approved	alpha4GnT	uc003ers.2	Q9UNA3	OTTHUMG00000159820	ENST00000236709.3:c.786C>A	3.37:g.137843343G>T							p.P262P	NM_016161	NP_057245	Q9UNA3	A4GCT_HUMAN			3	988	-			262			Lumenal (Potential).		Q0VDK1|Q0VDK2	Silent	SNP	ENST00000236709.3	37	c.786C>A	CCDS3097.1																																																																																				0.483	A4GNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357557.1	NM_016161		11	79	1	0	0.000151284	0.000162631	11	79				
MRPS22	56945	broad.mit.edu	37	3	139067116	139067116	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr3:139067116G>A	ENST00000495075.1	+	5	886	c.454G>A	c.(454-456)Gaa>Aaa	p.E152K	MRPS22_ENST00000465056.1_Missense_Mutation_p.E151K|MRPS22_ENST00000478464.1_Missense_Mutation_p.E111K|MRPS22_ENST00000310776.4_Missense_Mutation_p.E152K|RP11-219D15.3_ENST00000608472.1_RNA			P82650	RT22_HUMAN	mitochondrial ribosomal protein S22	152						mitochondrial ribosome (GO:0005761)|mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						GGAAGGAACAGAAACAACCAA	0.363																																						uc003etb.2		NA																	0				ovary(2)|skin(1)	3						c.(454-456)GAA>AAA		mitochondrial ribosomal protein S22							110.0	106.0	107.0					3																	139067116		2203	4300	6503	SO:0001583	missense	56945					mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr3:139067116G>A	AF226045	CCDS3107.1	3q23	2012-09-13			ENSG00000175110	ENSG00000175110		"""Mitochondrial ribosomal proteins / small subunits"""	14508	protein-coding gene	gene with protein product		605810				11175783	Standard	NM_020191		Approved	MRP-S22, GK002, C3orf5, GIBT	uc003etb.3	P82650	OTTHUMG00000159910	ENST00000495075.1:c.454G>A	3.37:g.139067116G>A	ENSP00000418008:p.Glu152Lys					MRPS22_uc003etc.2_RNA|MRPS22_uc003etd.2_Missense_Mutation_p.E151K|MRPS22_uc003ete.2_Missense_Mutation_p.E111K	p.E152K	NM_020191	NP_064576	P82650	RT22_HUMAN			3	462	+			152					Q9H3I1	Missense_Mutation	SNP	ENST00000495075.1	37	c.454G>A	CCDS3107.1	.	.	.	.	.	.	.	.	.	.	G	35	5.572086	0.96553	.	.	ENSG00000175110	ENST00000495075;ENST00000310776;ENST00000465056;ENST00000465373;ENST00000478464	D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67	5.87	5.87	0.94306	.	0.047746	0.85682	D	0.000000	D	0.89403	0.6705	M	0.73962	2.25	0.58432	D	0.999999	P;P;D	0.52996	0.905;0.947;0.957	P;P;P	0.54706	0.469;0.645;0.759	D	0.89593	0.3829	10	0.66056	D	0.02	-12.1408	20.1935	0.98237	0.0:0.0:1.0:0.0	.	111;151;152	G5E9W7;G5E9V5;P82650	.;.;RT22_HUMAN	K	152;152;151;157;111	ENSP00000418008:E152K;ENSP00000310785:E152K;ENSP00000418233:E151K;ENSP00000419920:E157K;ENSP00000419303:E111K	ENSP00000310785:E152K	E	+	1	0	MRPS22	140549806	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.691000	0.91279	2.782000	0.95742	0.655000	0.94253	GAA		0.363	MRPS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358120.1	NM_020191		38	73	0	0	0	0	38	73				
ATR	545	broad.mit.edu	37	3	142168296	142168296	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr3:142168296T>C	ENST00000350721.4	-	47	8031	c.7910A>G	c.(7909-7911)tAt>tGt	p.Y2637C	XRN1_ENST00000465074.1_5'Flank|XRN1_ENST00000264951.4_5'Flank|XRN1_ENST00000544157.1_5'Flank|ATR_ENST00000383101.3_Missense_Mutation_p.Y2573C|XRN1_ENST00000463916.1_5'Flank|XRN1_ENST00000392981.2_5'Flank	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2637	FATC. {ECO:0000255|PROSITE- ProRule:PRU00534, ECO:0000255|PROSITE- ProRule:PRU00535}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CCAACCAAGATACATCTGGCA	0.338								Other conserved DNA damage response genes																														uc003eux.3		NA																	0				lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						c.(7909-7911)TAT>TGT	Other_conserved_DNA_damage_response_genes	ataxia telangiectasia and Rad3 related protein							109.0	108.0	109.0					3																	142168296		2203	4300	6503	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142168296T>C	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.7910A>G	3.37:g.142168296T>C	ENSP00000343741:p.Tyr2637Cys					XRN1_uc003eus.2_5'Flank|XRN1_uc003eut.2_5'Flank|XRN1_uc003euu.2_5'Flank|XRN1_uc003euw.2_5'Flank|XRN1_uc011bnh.1_5'Flank|ATR_uc003euy.1_3'UTR	p.Y2637C	NM_001184	NP_001175	Q13535	ATR_HUMAN			47	8032	-			2637			FATC.		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.7910A>G	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.431047	0.83776	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	D;D	0.86432	-2.12;-2.12	5.5	5.5	0.81552	PIK-related kinase, FATC (2);Phosphatidylinositol 3-/4-kinase, catalytic (1);	0.000000	0.85682	D	0.000000	D	0.96262	0.8781	H	0.98466	4.24	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97972	1.0344	10	0.87932	D	0	-11.0289	15.6063	0.76676	0.0:0.0:0.0:1.0	.	2637	Q13535	ATR_HUMAN	C	2637;2573	ENSP00000343741:Y2637C;ENSP00000372581:Y2573C	ENSP00000343741:Y2637C	Y	-	2	0	ATR	143650986	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.983000	0.88140	2.098000	0.63641	0.533000	0.62120	TAT		0.338	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		15	91	0	0	0	0	15	91				
SI	6476	broad.mit.edu	37	3	164786949	164786949	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr3:164786949G>A	ENST00000264382.3	-	4	352	c.290C>T	c.(289-291)cCg>cTg	p.P97L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	97	P-type 1. {ECO:0000255|PROSITE- ProRule:PRU00779}.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	GTCATTCCACGGCCTCCAGCA	0.373										HNSCC(35;0.089)																												uc003fei.2		NA																	0				ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(289-291)CCG>CTG		sucrase-isomaltase	Acarbose(DB00284)						50.0	51.0	51.0					3																	164786949		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164786949G>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.290C>T	3.37:g.164786949G>A	ENSP00000264382:p.Pro97Leu	HNSCC(35;0.089)					p.P97L	NM_001041	NP_001032	P14410	SUIS_HUMAN			4	352	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	97			Lumenal.|P-type 1.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.290C>T	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	31	5.074583	0.94000	.	.	ENSG00000090402	ENST00000264382	T	0.58358	0.34	5.81	5.81	0.92471	Glycoside hydrolase-type carbohydrate-binding (1);P-type trefoil (4);	0.000000	0.85682	U	0.000000	T	0.72922	0.3521	M	0.88450	2.955	0.80722	D	1	D	0.63046	0.992	P	0.53518	0.728	T	0.77107	-0.2710	10	0.54805	T	0.06	.	20.0782	0.97758	0.0:0.0:1.0:0.0	.	97	P14410	SUIS_HUMAN	L	97	ENSP00000264382:P97L	ENSP00000264382:P97L	P	-	2	0	SI	166269643	1.000000	0.71417	0.372000	0.25991	0.924000	0.55760	8.431000	0.90285	2.746000	0.94184	0.655000	0.94253	CCG		0.373	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		6	48	0	0	0	0	6	48				
MASP1	5648	broad.mit.edu	37	3	187003846	187003846	+	Splice_Site	SNP	T	T	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr3:187003846T>A	ENST00000337774.5	-	2	395		c.e2-2		MASP1_ENST00000296280.6_Splice_Site|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000392472.2_Intron|MASP1_ENST00000392470.2_Splice_Site|MASP1_ENST00000169293.6_Splice_Site	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)						complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		AGCAGCCACCTGAAAGACATG	0.478																																						uc003frh.1		NA																	0				ovary(2)|breast(1)|liver(1)	4						c.e2-1		mannan-binding lectin serine protease 1 isoform							51.0	47.0	48.0					3																	187003846		2203	4300	6503	SO:0001630	splice_region_variant	5648				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	g.chr3:187003846T>A	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.6-2A>T	3.37:g.187003846T>A						MASP1_uc003fri.2_Splice_Site_p.R2_splice|MASP1_uc003frj.2_Intron|MASP1_uc003frk.1_Splice_Site_p.R2_splice|MASP1_uc011bse.1_Splice_Site	p.R2_splice	NM_001879	NP_001870	P48740	MASP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)	2	338	-	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)							A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Splice_Site	SNP	ENST00000337774.5	37	c.6_splice	CCDS33907.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.57|15.57	2.873386|2.873386	0.51695|0.51695	.|.	.|.	ENSG00000127241|ENSG00000127241	ENST00000337774;ENST00000296280;ENST00000169293;ENST00000439271|ENST00000392475	.|T	.|0.60171	.|0.21	4.95|4.95	4.95|4.95	0.65309|0.65309	.|.	.|.	.|.	.|.	.|.	.|T	.|0.65270	.|0.2675	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.64402	.|-0.6416	.|5	.|.	.|.	.|.	.|.	13.7448|13.7448	0.62868|0.62868	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	.|W	-1|9	.|ENSP00000376267:R9W	.|.	.|R	-|-	.|1	.|2	MASP1|MASP1	188486540|188486540	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.931000|0.931000	0.56810|0.56810	4.490000|4.490000	0.60319|0.60319	1.989000|1.989000	0.58080|0.58080	0.383000|0.383000	0.25322|0.25322	.|AGG		0.478	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879	Intron	13	39	0	0	0	0	13	39				
ATP13A4	84239	broad.mit.edu	37	3	193175175	193175175	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr3:193175175G>C	ENST00000342695.4	-	15	2076	c.1754C>G	c.(1753-1755)gCc>gGc	p.A585G	ATP13A4_ENST00000392443.3_Missense_Mutation_p.A566G	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	585						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TACCTGGCTGGCTGTTCTGCA	0.483																																						uc003ftd.2		NA																	0				ovary(2)	2						c.(1753-1755)GCC>GGC		ATPase type 13A4							187.0	187.0	187.0					3																	193175175		2203	4300	6503	SO:0001583	missense	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193175175G>C	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.1754C>G	3.37:g.193175175G>C	ENSP00000339182:p.Ala585Gly					ATP13A4_uc003fte.1_Missense_Mutation_p.A585G|ATP13A4_uc011bsr.1_Missense_Mutation_p.A56G|ATP13A4_uc010hzi.2_RNA	p.A585G	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	15	1862	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		585			Extracellular (Potential).		B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	37	c.1754C>G	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	G	12.15	1.852642	0.32699	.	.	ENSG00000127249	ENST00000392443;ENST00000342695	D;D	0.86030	-1.78;-2.06	4.95	1.93	0.25924	ATPase, cation-transporting, domain N (1);ATPase, P-type, cytoplasmic domain N (1);	0.382254	0.24449	N	0.038436	T	0.78188	0.4244	L	0.56396	1.775	0.80722	D	1	B;B;B	0.12630	0.006;0.006;0.006	B;B;B	0.25614	0.062;0.037;0.046	T	0.66015	-0.6028	10	0.25751	T	0.34	-19.5254	3.6596	0.08233	0.1997:0.0:0.4991:0.3012	.	566;585;585	B7WPN9;Q4VNC1-2;Q4VNC1	.;.;AT134_HUMAN	G	566;585	ENSP00000376238:A566G;ENSP00000339182:A585G	ENSP00000339182:A585G	A	-	2	0	ATP13A4	194657869	0.789000	0.28775	0.996000	0.52242	0.893000	0.52053	0.915000	0.28638	0.593000	0.29745	0.655000	0.94253	GCC		0.483	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		19	281	0	0	0	0	19	281				
LRCH3	84859	broad.mit.edu	37	3	197585726	197585726	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr3:197585726G>C	ENST00000425562.2	+	15	1666	c.1666G>C	c.(1666-1668)Gtg>Ctg	p.V556L	LRCH3_ENST00000414675.2_Intron|LRCH3_ENST00000441090.2_Missense_Mutation_p.V402L|LRCH3_ENST00000438796.2_Missense_Mutation_p.V556L|LRCH3_ENST00000536618.1_Missense_Mutation_p.V151L|LRCH3_ENST00000334859.4_Missense_Mutation_p.V556L			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	556						cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		GTTGAATCAAGTGGGCTGTGC	0.453																																						uc011bul.1		NA																	0				ovary(1)	1						c.(1666-1668)GTG>CTG		leucine-rich repeats and calponin homology (CH)							213.0	197.0	203.0					3																	197585726		2203	4300	6503	SO:0001583	missense	84859					extracellular region		g.chr3:197585726G>C	AL137527	CCDS3330.1	3q29	2006-04-12			ENSG00000186001	ENSG00000186001			28637	protein-coding gene	gene with protein product						12477932	Standard	NM_032773		Approved	MGC4126	uc003fyj.1	Q96II8	OTTHUMG00000155378	ENST00000425562.2:c.1666G>C	3.37:g.197585726G>C	ENSP00000393579:p.Val556Leu					LRCH3_uc003fyj.1_Missense_Mutation_p.V556L|LRCH3_uc011bum.1_Intron|LRCH3_uc011bun.1_Missense_Mutation_p.V402L|LRCH3_uc003fyk.2_Missense_Mutation_p.V151L	p.V556L	NM_032773	NP_116162	Q96II8	LRCH3_HUMAN	Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)	15	1671	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		556					B4E0T7|Q96FP9|Q9NT52	Missense_Mutation	SNP	ENST00000425562.2	37	c.1666G>C		.	.	.	.	.	.	.	.	.	.	G	13.57	2.277309	0.40294	.	.	ENSG00000186001	ENST00000438796;ENST00000441090;ENST00000334859;ENST00000425562;ENST00000536618;ENST00000452660	T;T;T;T;T;T	0.45276	2.12;1.53;2.36;2.14;0.93;0.9	5.07	5.07	0.68467	.	0.503608	0.18964	N	0.126305	T	0.27205	0.0667	L	0.27053	0.805	0.27716	N	0.945296	B;B;B;B	0.31435	0.323;0.007;0.019;0.007	B;B;B;B	0.23716	0.048;0.01;0.03;0.017	T	0.09487	-1.0672	10	0.11794	T	0.64	-5.4673	14.0122	0.64505	0.0:0.0:1.0:0.0	.	402;556;556;556	E9PD99;Q96II8-2;Q96II8;Q96II8-3	.;.;LRCH3_HUMAN;.	L	556;402;556;556;151;67	ENSP00000399751:V556L;ENSP00000394609:V402L;ENSP00000334375:V556L;ENSP00000393579:V556L;ENSP00000439083:V151L;ENSP00000395309:V67L	ENSP00000334375:V556L	V	+	1	0	LRCH3	199070123	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.440000	0.66563	2.349000	0.79799	0.650000	0.86243	GTG		0.453	LRCH3-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000339965.1	NM_032773		40	134	0	0	0	0	40	134				
PPARGC1A	10891	broad.mit.edu	37	4	23830203	23830203	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr4:23830203C>T	ENST00000264867.2	-	5	696	c.577G>A	c.(577-579)Gcg>Acg	p.A193T	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	193					androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				ATACTCTTCGCTTTATTGCTC	0.413																																					Esophageal Squamous(29;694 744 13796 34866 44181)	uc003gqs.2		NA																	0				ovary(2)|lung(2)|kidney(2)|skin(2)	8						c.(577-579)GCG>ACG		peroxisome proliferator-activated receptor							243.0	220.0	228.0					4																	23830203		2203	4300	6503	SO:0001583	missense	10891				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	g.chr4:23830203C>T	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"""RNA binding motif (RRM) containing"""	9237	protein-coding gene	gene with protein product		604517	"""peroxisome proliferative activated receptor, gamma, coactivator 1"", ""peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"""	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.577G>A	4.37:g.23830203C>T	ENSP00000264867:p.Ala193Thr					PPARGC1A_uc003gqt.2_RNA|PPARGC1A_uc011bxp.1_RNA|PPARGC1A_uc010ier.1_RNA	p.A193T	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN			5	697	-		Breast(46;0.0503)	193					B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Missense_Mutation	SNP	ENST00000264867.2	37	c.577G>A	CCDS3429.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.044650	0.36085	.	.	ENSG00000109819	ENST00000264867	T	0.25749	1.78	5.91	5.91	0.95273	.	0.157954	0.56097	D	0.000030	T	0.17450	0.0419	L	0.34521	1.04	0.80722	D	1	B	0.22276	0.067	B	0.12156	0.007	T	0.09773	-1.0659	10	0.14656	T	0.56	-5.464	10.0467	0.42190	0.0:0.7903:0.1386:0.0712	.	193	Q9UBK2	PRGC1_HUMAN	T	193	ENSP00000264867:A193T	ENSP00000264867:A193T	A	-	1	0	PPARGC1A	23439301	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.039000	0.30266	2.793000	0.96121	0.655000	0.94253	GCG		0.413	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		3	87	0	0	0	0	3	87				
COX18	285521	broad.mit.edu	37	4	73930982	73930982	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr4:73930982C>A	ENST00000295890.4	-	3	674	c.583G>T	c.(583-585)Gca>Tca	p.A195S	COX18_ENST00000507544.2_Missense_Mutation_p.A195S	NM_173827.2	NP_776188.1	Q8N8Q8	COX18_HUMAN	COX18 cytochrome C oxidase assembly factor	195					protein insertion into mitochondrial membrane (GO:0051204)|protein transport (GO:0015031)|respiratory chain complex IV assembly (GO:0008535)	integral component of mitochondrial inner membrane (GO:0031305)	protein transporter activity (GO:0008565)			large_intestine(4)|lung(2)	6	Breast(15;0.00096)		Epithelial(6;1.26e-06)|OV - Ovarian serous cystadenocarcinoma(6;9.45e-06)|all cancers(17;2.05e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAATGTGCTGCCCCCGTGCTT	0.378																																						uc003hgm.1		NA																	0					0						c.(583-585)GCA>TCA		mitochondrial COX18 precursor							88.0	84.0	85.0					4																	73930982		2203	4300	6503	SO:0001583	missense	285521				protein insertion into mitochondrial membrane|respiratory chain complex IV assembly	integral to mitochondrial inner membrane	protein transporter activity	g.chr4:73930982C>A	AY957564	CCDS3554.1, CCDS75139.1	4q13.3	2013-06-12	2013-06-12		ENSG00000163626	ENSG00000163626		"""Mitochondrial respiratory chain complex assembly factors"""	26801	protein-coding gene	gene with protein product		610428	"""COX18 cytochrome c oxidase assembly homolog (S. cerevisiae)"", ""cytochrome c oxidase assembly homolog 18 (yeast)"""			16212937, 16911509	Standard	XM_005265679		Approved	FLJ38991	uc003hgm.1	Q8N8Q8	OTTHUMG00000129917	ENST00000295890.4:c.583G>T	4.37:g.73930982C>A	ENSP00000295890:p.Ala195Ser					COX18_uc003hgn.1_Missense_Mutation_p.A44S|COX18_uc011cbc.1_Missense_Mutation_p.A195S|COX18_uc010iih.1_Missense_Mutation_p.A195S	p.A195S	NM_173827	NP_776188	Q8N8Q8	COX18_HUMAN	Epithelial(6;1.26e-06)|OV - Ovarian serous cystadenocarcinoma(6;9.45e-06)|all cancers(17;2.05e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		3	689	-	Breast(15;0.00096)		195					Q2PB66|Q2PB67|Q2PB68|Q49B97|Q6IPP9	Missense_Mutation	SNP	ENST00000295890.4	37	c.583G>T	CCDS3554.1	.	.	.	.	.	.	.	.	.	.	C	1.374	-0.585329	0.03827	.	.	ENSG00000163626	ENST00000295890;ENST00000507544	.	.	.	5.57	1.73	0.24493	.	0.676716	0.16336	N	0.218908	T	0.22898	0.0553	N	0.12746	0.255	0.09310	N	1	B;B	0.14438	0.01;0.001	B;B	0.23150	0.044;0.02	T	0.24154	-1.0168	9	0.17369	T	0.5	0.0157	10.1492	0.42782	0.0:0.6254:0.0:0.3746	.	195;195	B7ZL88;Q8N8Q8	.;COX18_HUMAN	S	195	.	ENSP00000295890:A195S	A	-	1	0	COX18	74149846	0.000000	0.05858	0.028000	0.17463	0.508000	0.34012	-0.016000	0.12613	0.348000	0.23949	0.655000	0.94253	GCA		0.378	COX18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252169.2	NM_173827		17	30	1	0	2.35e-11	2.8e-11	17	30				
SEC24B	10427	broad.mit.edu	37	4	110384711	110384711	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr4:110384711C>T	ENST00000265175.5	+	2	843	c.788C>T	c.(787-789)tCa>tTa	p.S263L	SEC24B_ENST00000504968.2_Missense_Mutation_p.S294L|SEC24B_ENST00000399100.2_Missense_Mutation_p.S263L	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	263					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CTAACGTGGTCATCTCCAGGC	0.488																																						uc003hzk.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(787-789)TCA>TTA		SEC24 (S. cerevisiae) homolog B isoform a							104.0	110.0	108.0					4																	110384711		2184	4275	6459	SO:0001583	missense	10427				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	g.chr4:110384711C>T	AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.788C>T	4.37:g.110384711C>T	ENSP00000265175:p.Ser263Leu					SEC24B_uc003hzl.2_Missense_Mutation_p.S263L|SEC24B_uc011cfp.1_Missense_Mutation_p.S294L|SEC24B_uc011cfq.1_Missense_Mutation_p.S263L|SEC24B_uc011cfr.1_Missense_Mutation_p.S263L	p.S263L	NM_006323	NP_006314	O95487	SC24B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)	2	843	+		Hepatocellular(203;0.217)	263					B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	ENST00000265175.5	37	c.788C>T	CCDS47124.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.188895	0.57909	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	T;T;T	0.79033	-1.03;-1.23;-1.2	5.57	5.57	0.84162	.	0.361143	0.20059	N	0.100139	T	0.65729	0.2719	N	0.19112	0.55	0.36833	D	0.886991	B;P;P;P	0.39282	0.335;0.666;0.465;0.666	B;B;B;B	0.33339	0.058;0.162;0.124;0.115	T	0.74405	-0.3676	10	0.59425	D	0.04	-10.6567	17.7463	0.88422	0.0:1.0:0.0:0.0	.	213;294;263;263	B4DTM6;B7ZKM8;O95487-2;O95487	.;.;.;SC24B_HUMAN	L	294;263;263	ENSP00000428564:S294L;ENSP00000382051:S263L;ENSP00000265175:S263L	ENSP00000265175:S263L	S	+	2	0	SEC24B	110604160	0.984000	0.35163	0.991000	0.47740	0.696000	0.40369	5.038000	0.64177	2.630000	0.89119	0.591000	0.81541	TCA		0.488	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2			20	40	0	0	0	0	20	40				
RAI14	26064	broad.mit.edu	37	5	34823598	34823598	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr5:34823598G>C	ENST00000265109.3	+	15	1938	c.1651G>C	c.(1651-1653)Gag>Cag	p.E551Q	RAI14_ENST00000503673.1_Missense_Mutation_p.E551Q|RAI14_ENST00000397449.1_Missense_Mutation_p.E544Q|RAI14_ENST00000515799.1_Missense_Mutation_p.E554Q|RAI14_ENST00000512629.1_Missense_Mutation_p.E522Q|RAI14_ENST00000428746.2_Missense_Mutation_p.E551Q|RAI14_ENST00000506376.1_Missense_Mutation_p.E543Q	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	551						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					aagaaataaagagaaagtgag	0.393																																						uc003jir.2		NA																	0				ovary(1)	1						c.(1651-1653)GAG>CAG		retinoic acid induced 14 isoform a							41.0	40.0	40.0					5																	34823598		2203	4300	6503	SO:0001583	missense	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34823598G>C	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.1651G>C	5.37:g.34823598G>C	ENSP00000265109:p.Glu551Gln					RAI14_uc010iur.2_Missense_Mutation_p.E522Q|RAI14_uc011coj.1_Missense_Mutation_p.E551Q|RAI14_uc003jis.2_Missense_Mutation_p.E554Q|RAI14_uc003jit.2_Missense_Mutation_p.E551Q|RAI14_uc011cok.1_Missense_Mutation_p.E543Q	p.E551Q	NM_015577	NP_056392	Q9P0K7	RAI14_HUMAN			15	1847	+	all_lung(31;0.000191)		551			Potential.		E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	37	c.1651G>C	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.843195	0.51057	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T	0.37411	1.23;1.2;1.23;1.23;1.23;1.27;1.26	5.64	5.64	0.86602	.	.	.	.	.	T	0.37652	0.1011	N	0.19112	0.55	0.34636	D	0.720155	D;D;D;D	0.59767	0.986;0.977;0.963;0.977	P;P;P;P	0.55455	0.776;0.601;0.698;0.601	T	0.48103	-0.9064	9	0.48119	T	0.1	-11.3935	12.9729	0.58524	0.0736:0.0:0.9264:0.0	.	543;522;554;551	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	Q	551;522;551;551;554;543;544	ENSP00000265109:E551Q;ENSP00000422377:E522Q;ENSP00000388725:E551Q;ENSP00000422942:E551Q;ENSP00000427123:E554Q;ENSP00000423854:E543Q;ENSP00000380591:E544Q	ENSP00000265109:E551Q	E	+	1	0	RAI14	34859355	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	2.815000	0.48018	2.673000	0.90976	0.555000	0.69702	GAG		0.393	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		3	44	0	0	0	0	3	44				
RASA1	5921	broad.mit.edu	37	5	86670020	86670020	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr5:86670020T>A	ENST00000274376.6	+	14	2381	c.1817T>A	c.(1816-1818)cTc>cAc	p.L606H	RASA1_ENST00000506290.1_Missense_Mutation_p.L440H|RASA1_ENST00000456692.2_Missense_Mutation_p.L429H|CTC-428H11.2_ENST00000607486.1_RNA|RASA1_ENST00000512763.1_Missense_Mutation_p.L439H	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	606	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		GCCCATAAACTCCCAGTAAAA	0.333																																						uc003kiw.2		NA																	0				upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5						c.(1816-1818)CTC>CAC		RAS p21 protein activator 1 isoform 1							68.0	65.0	66.0					5																	86670020		2202	4300	6502	SO:0001583	missense	5921				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding	g.chr5:86670020T>A		CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.1817T>A	5.37:g.86670020T>A	ENSP00000274376:p.Leu606His					RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Missense_Mutation_p.L429H|RASA1_uc011ctv.1_Missense_Mutation_p.L439H|RASA1_uc011ctw.1_Missense_Mutation_p.L440H|RASA1_uc010jaw.2_Missense_Mutation_p.L428H	p.L606H	NM_002890	NP_002881	P20936	RASA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)	14	1935	+		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)	606			C2.		B2R6W3|Q9UDI1	Missense_Mutation	SNP	ENST00000274376.6	37	c.1817T>A	CCDS34200.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.541173	0.85917	.	.	ENSG00000145715	ENST00000274376;ENST00000534133;ENST00000456692;ENST00000512763;ENST00000506290	D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69	5.7	5.7	0.88788	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.057866	0.64402	D	0.000001	D	0.91630	0.7355	M	0.83223	2.63	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;0.999;1.0	D	0.92808	0.6262	10	0.87932	D	0	.	15.9734	0.80040	0.0:0.0:0.0:1.0	.	440;439;440;429;606	E9PGC0;B4DTL2;B4DTX4;P20936-2;P20936	.;.;.;.;RASA1_HUMAN	H	606;639;429;439;440	ENSP00000274376:L606H;ENSP00000411221:L429H;ENSP00000422008:L439H;ENSP00000420905:L440H	ENSP00000274376:L606H	L	+	2	0	RASA1	86705776	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.036000	0.88901	2.180000	0.69256	0.454000	0.30748	CTC		0.333	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890		7	11	0	0	0	0	7	11				
RAD50	10111	broad.mit.edu	37	5	131915747	131915747	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr5:131915747G>T	ENST00000265335.6	+	5	1132	c.745G>T	c.(745-747)Gat>Tat	p.D249Y	RAD50_ENST00000487596.1_3'UTR|RAD50_ENST00000378823.3_Missense_Mutation_p.D110Y			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	249					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAATGAACTTGATCCATTGAA	0.308								Homologous recombination																														uc003kxi.2		NA																	0				lung(2)|ovary(1)|skin(1)	4						c.(745-747)GAT>TAT	Homologous_recombination	RAD50 homolog isoform 1							65.0	68.0	67.0					5																	131915747		2202	4300	6502	SO:0001583	missense	10111				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding	g.chr5:131915747G>T	Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.745G>T	5.37:g.131915747G>T	ENSP00000265335:p.Asp249Tyr					RAD50_uc003kxg.1_Missense_Mutation_p.D150Y|RAD50_uc003kxh.2_Missense_Mutation_p.D110Y	p.D249Y	NM_005732	NP_005723	Q92878	RAD50_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		5	1132	+		all_cancers(142;0.0368)|Breast(839;0.198)	249			Potential.		B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Missense_Mutation	SNP	ENST00000265335.6	37	c.745G>T	CCDS34233.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.028002	0.54790	.	.	ENSG00000113522	ENST00000378823;ENST00000265335;ENST00000453394	T;T;T	0.07688	3.44;3.17;3.17	5.74	4.87	0.63330	.	0.505846	0.23676	N	0.045673	T	0.14227	0.0344	L	0.50333	1.59	0.43852	D	0.996446	P	0.36125	0.538	B	0.43331	0.416	T	0.01390	-1.1367	10	0.72032	D	0.01	-5.94	13.6104	0.62074	0.074:0.0:0.926:0.0	.	249	Q92878	RAD50_HUMAN	Y	110;249;249	ENSP00000368100:D110Y;ENSP00000265335:D249Y;ENSP00000400049:D249Y	ENSP00000265335:D249Y	D	+	1	0	RAD50	131943646	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.405000	0.66351	1.427000	0.47276	0.655000	0.94253	GAT		0.308	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732		8	45	1	0	5.18e-06	5.63e-06	8	45				
SIL1	64374	broad.mit.edu	37	5	138362615	138362615	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr5:138362615G>C	ENST00000394817.2	-	6	659	c.520C>G	c.(520-522)Ctg>Gtg	p.L174V	CTB-46B19.2_ENST00000512875.2_RNA|SIL1_ENST00000509534.1_Missense_Mutation_p.L181V|SIL1_ENST00000265195.5_Missense_Mutation_p.L174V	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	SIL1 nucleotide exchange factor	174	Interaction with HSPA5 and localization to the endoplasmic reticulum. {ECO:0000250}.				intracellular protein transport (GO:0006886)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ACAACATTCAGCTCATCAAAG	0.468									Marinesco-Sjgren syndrome																													uc003ldm.2		NA																	0					0						c.(520-522)CTG>GTG		SIL1 protein precursor							126.0	115.0	118.0					5																	138362615		2203	4300	6503	SO:0001583	missense	64374	Marinesco-Sj_gren_syndrome	Familial Cancer Database	Marinesco-Sjogren syndrome	intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding	g.chr5:138362615G>C	AK075177	CCDS4209.1	5q31	2013-08-21	2013-08-21		ENSG00000120725	ENSG00000120725			24624	protein-coding gene	gene with protein product		608005	"""Marinesco-Sjogren syndrome"", ""SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)"""	MSS		11101517, 12356756, 16282977	Standard	XM_006714671		Approved	BAP, ULG5	uc003ldp.3	Q9H173	OTTHUMG00000129226	ENST00000394817.2:c.520C>G	5.37:g.138362615G>C	ENSP00000378294:p.Leu174Val					SIL1_uc003ldn.2_Missense_Mutation_p.L173V|SIL1_uc003ldo.2_Missense_Mutation_p.L174V|SIL1_uc003ldp.2_Missense_Mutation_p.L174V|SIL1_uc003ldq.1_Intron	p.L174V	NM_022464	NP_071909	Q9H173	SIL1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		5	537	-			174			Interaction with HSPA5 and localization to the endoplasmic reticulum (By similarity).		D3DQC2|Q8N2L3	Missense_Mutation	SNP	ENST00000394817.2	37	c.520C>G	CCDS4209.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.418303	0.62622	.	.	ENSG00000120725	ENST00000394817;ENST00000265195;ENST00000509534	T;T;T	0.51817	0.69;0.69;0.69	5.58	1.29	0.21616	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.58793	0.2147	M	0.74389	2.26	0.35209	D	0.774979	D;D	0.67145	0.996;0.981	P;P	0.58620	0.842;0.757	T	0.66913	-0.5803	10	0.34782	T	0.22	-10.2645	11.2361	0.48942	0.2987:0.0:0.7013:0.0	.	181;174	D6REA1;Q9H173	.;SIL1_HUMAN	V	174;174;181	ENSP00000378294:L174V;ENSP00000265195:L174V;ENSP00000426858:L181V	ENSP00000265195:L174V	L	-	1	2	SIL1	138390514	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.928000	0.40104	0.321000	0.23259	0.555000	0.69702	CTG		0.468	SIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251319.1	NM_022464		9	40	0	0	0	0	9	40				
HIVEP1	3096	broad.mit.edu	37	6	12125603	12125603	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr6:12125603G>A	ENST00000379388.2	+	4	5907	c.5575G>A	c.(5575-5577)Gaa>Aaa	p.E1859K	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1859					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GCAGGAATTTGAAAACATCAA	0.338																																						uc003nac.2		NA																	0				ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(5575-5577)GAA>AAA		human immunodeficiency virus type I enhancer							71.0	66.0	68.0					6																	12125603		1848	4096	5944	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12125603G>A	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.5575G>A	6.37:g.12125603G>A	ENSP00000368698:p.Glu1859Lys					HIVEP1_uc011diq.1_RNA	p.E1859K	NM_002114	NP_002105	P15822	ZEP1_HUMAN			4	5754	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	1859					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.5575G>A	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.025451	0.35701	.	.	ENSG00000095951	ENST00000379388	T	0.11169	2.8	5.92	5.04	0.67666	.	0.222210	0.23010	N	0.052974	T	0.03651	0.0104	L	0.34521	1.04	0.80722	D	1	B	0.16166	0.016	B	0.16722	0.016	T	0.32268	-0.9913	9	.	.	.	-25.7098	13.3215	0.60436	0.0764:0.0:0.9236:0.0	.	1859	P15822	ZEP1_HUMAN	K	1859	ENSP00000368698:E1859K	.	E	+	1	0	HIVEP1	12233589	1.000000	0.71417	0.847000	0.33407	0.535000	0.34838	3.335000	0.52105	1.480000	0.48289	0.655000	0.94253	GAA		0.338	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		37	44	0	0	0	0	37	44				
ABCF1	23	broad.mit.edu	37	6	30547713	30547713	+	Silent	SNP	A	A	G			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr6:30547713A>G	ENST00000326195.8	+	7	607	c.495A>G	c.(493-495)gtA>gtG	p.V165V	ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Silent_p.V165V	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	165	Glu-rich.				inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						TCCAGGCCGTATCTGAGGAAC	0.433																																						uc003nql.2		NA																	0				ovary(2)	2						c.(493-495)GTA>GTG		ATP-binding cassette, sub-family F, member 1							97.0	66.0	77.0					6																	30547713		1511	2709	4220	SO:0001819	synonymous_variant	23				inflammatory response|translational initiation	nuclear envelope|nuclear envelope|nucleoplasm|nucleoplasm|polysomal ribosome	ATP binding|ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding	g.chr6:30547713A>G	AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"""ATP binding cassette transporters / subfamily F"""	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.495A>G	6.37:g.30547713A>G						ABCF1_uc003nqk.2_Silent_p.V166V|ABCF1_uc003nqm.2_Silent_p.V165V|ABCF1_uc010jsb.2_Intron	p.V165V	NM_001025091	NP_001020262	Q8NE71	ABCF1_HUMAN			7	590	+			165			Glu-rich.		A2BF75|O14897|Q69YP6	Silent	SNP	ENST00000326195.8	37	c.495A>G	CCDS34380.1																																																																																				0.433	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076137.3			7	8	0	0	0	0	7	8				
MUC21	394263	broad.mit.edu	37	6	30954739	30954739	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr6:30954739A>C	ENST00000376296.3	+	2	1028	c.787A>C	c.(787-789)Acc>Ccc	p.T263P	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	263	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GTCCAGCACGACCTCCAGTGG	0.632																																						uc003nsh.2		NA																	0				ovary(1)|skin(1)	2						c.(787-789)ACC>CCC		mucin 21 precursor							143.0	145.0	145.0					6																	30954739		2203	4300	6503	SO:0001583	missense	394263					integral to membrane|plasma membrane		g.chr6:30954739A>C	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"""Mucins"""	21661	protein-coding gene	gene with protein product	"""epiglycanin"""		"""chromosome 6 open reading frame 205"""	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.787A>C	6.37:g.30954739A>C	ENSP00000365473:p.Thr263Pro					MUC21_uc003nsi.1_RNA	p.T263P	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN			2	1038	+			263			Ser-rich.|16.|28 X 15 AA approximate tandem repeats.|Extracellular (Potential).		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	c.787A>C	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	A	10.32	1.318271	0.23994	.	.	ENSG00000204544	ENST00000376296	T	0.03441	3.93	4.09	-1.17	0.09648	.	.	.	.	.	T	0.00608	0.0020	N	0.24115	0.695	0.09310	N	1	B	0.31931	0.347	B	0.25884	0.064	T	0.47611	-0.9104	8	.	.	.	0.034	0.5038	0.00584	0.3607:0.1854:0.2744:0.1795	.	263	Q5SSG8	MUC21_HUMAN	P	263	ENSP00000365473:T263P	.	T	+	1	0	MUC21	31062718	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.227000	0.09126	-0.049000	0.13379	-2.676000	0.00143	ACC		0.632	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		9	177	0	0	0	0	9	177				
COL21A1	81578	broad.mit.edu	37	6	55922598	55922598	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr6:55922598C>G	ENST00000244728.5	-	30	3128	c.2731G>C	c.(2731-2733)Gac>Cac	p.D911H	COL21A1_ENST00000370808.2_Missense_Mutation_p.D277H|COL21A1_ENST00000535941.1_Missense_Mutation_p.D911H|COL21A1_ENST00000370819.1_Missense_Mutation_p.D908H|COL21A1_ENST00000467045.1_5'UTR	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	911	Collagen-like 7.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			AGACCTGGGTCTCCTGGAGGA	0.498																																						uc003pcs.2		NA																	0				ovary(2)	2						c.(2731-2733)GAC>CAC		collagen, type XXI, alpha 1 precursor							44.0	42.0	42.0					6																	55922598		1855	4095	5950	SO:0001583	missense	81578				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr6:55922598C>G	AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"""Collagens"""	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.2731G>C	6.37:g.55922598C>G	ENSP00000244728:p.Asp911His					COL21A1_uc010jzz.2_Missense_Mutation_p.D296H|COL21A1_uc011dxg.1_Missense_Mutation_p.D284H|COL21A1_uc011dxh.1_Missense_Mutation_p.D262H|COL21A1_uc003pcr.2_Missense_Mutation_p.D268H	p.D911H	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		30	2963	-	Lung NSC(77;0.0483)		911					A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Missense_Mutation	SNP	ENST00000244728.5	37	c.2731G>C	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	C	10.66	1.413299	0.25465	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811;ENST00000370808	D;D;D;D	0.94330	-3.4;-3.4;-3.4;-3.19	4.46	4.46	0.54185	.	0.367052	0.22672	N	0.057050	D	0.91243	0.7240	L	0.41824	1.3	0.32145	N	0.584955	D;D;P;D	0.54397	0.958;0.966;0.6;0.966	P;P;P;P	0.57371	0.639;0.754;0.606;0.819	D	0.89393	0.3690	10	0.44086	T	0.13	.	13.2699	0.60155	0.0:0.8407:0.1593:0.0	.	277;911;911;268	Q96P44-2;B7ZLK3;Q96P44;B3KU30	.;.;COLA1_HUMAN;.	H	911;908;911;908;277	ENSP00000244728:D911H;ENSP00000359855:D908H;ENSP00000444384:D911H;ENSP00000359844:D277H	ENSP00000244728:D911H	D	-	1	0	COL21A1	56030557	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.876000	0.56115	2.197000	0.70478	0.655000	0.94253	GAC		0.498	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2			8	11	0	0	0	0	8	11				
ECT2L	345930	broad.mit.edu	37	6	139223693	139223693	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr6:139223693G>A	ENST00000423192.1	+	21	2805	c.2644G>A	c.(2644-2646)Gaa>Aaa	p.E882K	ECT2L_ENST00000541398.1_Missense_Mutation_p.E736K|ECT2L_ENST00000367682.2_Missense_Mutation_p.E882K			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	882							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TTGTGCTACAGAAATAGAGGA	0.368			"""N, Splice, Mis"""		ETP ALL																																	uc003qif.1		NA		Rec	yes		6	6q24.1	345930		epithelial cell transforming sequence 2 oncogene-like			L					0					0						c.(2644-2646)GAA>AAA		epithelial cell transforming sequence 2							104.0	103.0	104.0					6																	139223693		1848	4086	5934	SO:0001583	missense	345930				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:139223693G>A		CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"""Rho guanine nucleotide exchange factors"", ""F-boxes /  ""other"""""	21118	protein-coding gene	gene with protein product	"""lung specific F-box and DH domain containing protein"", ""F-box protein 49"""		"""chromosome 6 open reading frame 91"", ""epithelial cell transforming sequence 2 oncogene-like"""	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.2644G>A	6.37:g.139223693G>A	ENSP00000387388:p.Glu882Lys					ECT2L_uc011edq.1_Missense_Mutation_p.E736K	p.E882K	NM_001077706	NP_001071174	Q008S8	ECT2L_HUMAN			20	2747	+			882					B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Missense_Mutation	SNP	ENST00000423192.1	37	c.2644G>A	CCDS43508.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.639089	0.87760	.	.	ENSG00000203734	ENST00000423192;ENST00000367682;ENST00000541398	T;T;T	0.79653	-1.29;-1.29;-1.29	5.85	5.85	0.93711	Pleckstrin homology-type (1);	0.000000	0.41294	U	0.000909	D	0.84714	0.5533	M	0.72118	2.19	0.29172	N	0.877044	D;D	0.71674	0.998;0.991	P;P	0.62089	0.898;0.793	T	0.80705	-0.1263	10	0.48119	T	0.1	-7.5187	17.0802	0.86596	0.0:0.0:1.0:0.0	.	736;882	F5H7S9;Q008S8	.;ECT2L_HUMAN	K	882;882;736	ENSP00000387388:E882K;ENSP00000356655:E882K;ENSP00000442307:E736K	ENSP00000356655:E882K	E	+	1	0	ECT2L	139265386	1.000000	0.71417	0.976000	0.42696	0.798000	0.45092	5.951000	0.70273	2.773000	0.95371	0.655000	0.94253	GAA		0.368	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3	NM_001077706		12	37	0	0	0	0	12	37				
RGS17	26575	broad.mit.edu	37	6	153347672	153347672	+	Silent	SNP	A	A	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr6:153347672A>T	ENST00000367225.2	-	2	150	c.126T>A	c.(124-126)acT>acA	p.T42T	RGS17_ENST00000206262.1_Silent_p.T42T			Q9UGC6	RGS17_HUMAN	regulator of G-protein signaling 17	42					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(2)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)		CATTCCTCACAGTGAGGCTGT	0.403																																					Esophageal Squamous(78;500 1236 6775 24364 49058)	uc003qpm.2		NA																	0				pancreas(1)	1						c.(124-126)ACT>ACA		regulator of G-protein signalling 17							228.0	180.0	196.0					6																	153347672		2203	4300	6503	SO:0001819	synonymous_variant	26575	Lung_Cancer_Familial_Clustering_of			negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr6:153347672A>T	AF202257	CCDS5244.1	6q25-q26	2009-05-29	2007-08-14		ENSG00000091844	ENSG00000091844		"""Regulators of G-protein signaling"""	14088	protein-coding gene	gene with protein product		607191	"""regulator of G-protein signalling 17"""			10419452	Standard	NM_012419		Approved	RGSZ2, RGS-17	uc003qpm.3	Q9UGC6	OTTHUMG00000015858	ENST00000367225.2:c.126T>A	6.37:g.153347672A>T							p.T42T	NM_012419	NP_036551	Q9UGC6	RGS17_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)	3	282	-		Ovarian(120;0.126)	42					Q5TF49|Q8TD61|Q9UJS8	Silent	SNP	ENST00000367225.2	37	c.126T>A	CCDS5244.1																																																																																				0.403	RGS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042773.2			26	59	0	0	0	0	26	59				
ITGB8	3696	broad.mit.edu	37	7	20441678	20441678	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr7:20441678G>T	ENST00000222573.4	+	10	2300	c.1616G>T	c.(1615-1617)gGa>gTa	p.G539V	ITGB8_ENST00000537992.1_Missense_Mutation_p.G404V	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	539	Cysteine-rich tandem repeats.				cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						ATTAAGCTTGGAAAAGTGTAT	0.388																																						uc003suu.2		NA																	0				skin(3)	3						c.(1615-1617)GGA>GTA		integrin, beta 8 precursor							139.0	144.0	142.0					7																	20441678		2203	4300	6503	SO:0001583	missense	3696				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	g.chr7:20441678G>T		CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"""Integrins"""	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.1616G>T	7.37:g.20441678G>T	ENSP00000222573:p.Gly539Val					ITGB8_uc011jyh.1_Missense_Mutation_p.G404V	p.G539V	NM_002214	NP_002205	P26012	ITB8_HUMAN			10	2321	+			539			Cysteine-rich tandem repeats.|II.|Extracellular (Potential).		A4D133|B4DHD4	Missense_Mutation	SNP	ENST00000222573.4	37	c.1616G>T	CCDS5370.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.572982	0.86542	.	.	ENSG00000105855	ENST00000537992;ENST00000222573	D;D	0.98732	-5.1;-5.1	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000001	D	0.99105	0.9692	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99857	1.1078	10	0.87932	D	0	.	20.3316	0.98722	0.0:0.0:1.0:0.0	.	539	P26012	ITB8_HUMAN	V	404;539	ENSP00000441561:G404V;ENSP00000222573:G539V	ENSP00000222573:G539V	G	+	2	0	ITGB8	20408203	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	8.311000	0.89973	2.871000	0.98454	0.655000	0.94253	GGA		0.388	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	NM_002214		28	101	1	0	5.77e-19	6.92e-19	28	101				
PURB	5814	broad.mit.edu	37	7	44924293	44924294	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr7:44924293_44924294GC>AA	ENST00000395699.2	-	1	666_667	c.654_655GC>TT	c.(652-657)gaGCtc>gaTTtc	p.218_219EL>DF	MIR4657_ENST00000578157.1_RNA|RP4-673M15.1_ENST00000608450.1_RNA	NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	218	Gly-rich.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of myeloid cell differentiation (GO:0045637)|transcription, DNA-templated (GO:0006351)	DNA replication factor A complex (GO:0005662)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						CCCTCCGGGAGCTCTCCATACA	0.668																																						uc003tme.2		NA																	0					0						c.(652-657)GAGCTC>GATTTC		purine-rich element binding protein B																																				SO:0001583	missense	5814				regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding	g.chr7:44924293_44924294GC>AA		CCDS5499.1	7p13	2008-07-18			ENSG00000146676	ENSG00000146676			9702	protein-coding gene	gene with protein product		608887				1448097	Standard	NM_033224		Approved	PURBETA	uc003tme.3	Q96QR8	OTTHUMG00000023578	ENST00000395699.2:c.654_655delinsAA	7.37:g.44924293_44924294delinsAA	ENSP00000379051:p.E218_L219delinsDF						p.218_219EL>DF	NM_033224	NP_150093	Q96QR8	PURB_HUMAN			1	667_668	-			218_219			Gly-rich.|By similarity.		A4D2L7	Missense_Mutation	DNP	ENST00000395699.2	37	c.654_655GC>TT	CCDS5499.1																																																																																				0.668	PURB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251332.2	NM_033224		15	50	0	0	0	0	15	50				
FZD1	8321	broad.mit.edu	37	7	90895177	90895177	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr7:90895177G>C	ENST00000287934.2	+	1	1395	c.982G>C	c.(982-984)Gtg>Ctg	p.V328L		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	328					autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CATTTGGTCAGTGCTGTGCTG	0.627																																						uc003ula.2		NA																	0					0						c.(982-984)GTG>CTG		frizzled 1 precursor							110.0	98.0	102.0					7																	90895177		2203	4300	6503	SO:0001583	missense	8321				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding	g.chr7:90895177G>C	AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"""GPCR / Class F : Frizzled receptors"""	4038	protein-coding gene	gene with protein product	"""Wnt receptor"", ""frizzled, Drosophila, homolog of, 1"""	603408	"""frizzled (Drosophila) homolog 1"", ""frizzled homolog 1 (Drosophila)"", ""frizzled 1, seven transmembrane spanning receptor"", ""frizzled family receptor 1"""			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.982G>C	7.37:g.90895177G>C	ENSP00000287934:p.Val328Leu						p.V328L	NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0134)		1	1395	+	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		328			Helical; Name=1; (Potential).		A4D1E8|O94815|Q549T8	Missense_Mutation	SNP	ENST00000287934.2	37	c.982G>C	CCDS5620.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.818257	0.50633	.	.	ENSG00000157240	ENST00000287934	D	0.82344	-1.6	4.63	4.63	0.57726	GPCR, family 2-like (1);	0.000000	0.48767	D	0.000164	D	0.82829	0.5122	M	0.65320	2	0.43503	D	0.995759	P	0.36837	0.571	B	0.38921	0.285	D	0.84743	0.0752	10	0.54805	T	0.06	.	17.658	0.88183	0.0:0.0:1.0:0.0	.	328	Q9UP38	FZD1_HUMAN	L	328	ENSP00000287934:V328L	ENSP00000287934:V328L	V	+	1	0	FZD1	90733113	1.000000	0.71417	0.982000	0.44146	0.990000	0.78478	3.915000	0.56409	2.396000	0.81511	0.511000	0.50034	GTG		0.627	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	NM_003505		15	87	0	0	0	0	15	87				
TRRAP	8295	broad.mit.edu	37	7	98535316	98535316	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr7:98535316A>T	ENST00000359863.4	+	30	4486	c.4277A>T	c.(4276-4278)cAt>cTt	p.H1426L	TRRAP_ENST00000355540.3_Missense_Mutation_p.H1426L|TRRAP_ENST00000446306.3_Missense_Mutation_p.H1425L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1426					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ATCCACACACATATGCGACCT	0.413																																						uc003upp.2		NA																	0				ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37						c.(4276-4278)CAT>CTT		transformation/transcription domain-associated							125.0	102.0	110.0					7																	98535316		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98535316A>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.4277A>T	7.37:g.98535316A>T	ENSP00000352925:p.His1426Leu					TRRAP_uc011kis.1_Missense_Mutation_p.H1426L|TRRAP_uc003upr.2_Missense_Mutation_p.H1118L	p.H1426L	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		30	4486	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		1426					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.4277A>T	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.942|9.942	1.217829|1.217829	0.22373|0.22373	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.64991|.	-0.13;-0.13|.	6.08|6.08	6.08|6.08	0.98989|0.98989	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.40956|0.40956	0.1138|0.1138	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B;B;B|.	0.23185|.	0.081;0.004;0.061|.	B;B;B|.	0.19666|.	0.026;0.004;0.016|.	T|T	0.36939|0.36939	-0.9727|-0.9727	10|5	0.39692|.	T|.	0.17|.	.|.	16.6438|16.6438	0.85155|0.85155	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1426;1140;1426|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	L|L	1426;1426;1424|1141	ENSP00000352925:H1426L;ENSP00000347733:H1426L|.	ENSP00000347733:H1426L|.	H|I	+|+	2|1	0|0	TRRAP|TRRAP	98373252|98373252	1.000000|1.000000	0.71417|0.71417	0.335000|0.335000	0.25508|0.25508	0.962000|0.962000	0.63368|0.63368	7.216000|7.216000	0.77974|0.77974	2.333000|2.333000	0.79357|0.79357	0.533000|0.533000	0.62120|0.62120	CAT|ATA		0.413	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		11	69	0	0	0	0	11	69				
PTPRZ1	5803	broad.mit.edu	37	7	121636535	121636535	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr7:121636535T>C	ENST00000393386.2	+	9	1439	c.1028T>C	c.(1027-1029)aTt>aCt	p.I343T	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.I343T	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	343	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GATACCATGATTGAGAAGTTT	0.408																																						uc003vjy.2		NA																	0				ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						c.(1027-1029)ATT>ACT		protein tyrosine phosphatase, receptor-type,							164.0	155.0	158.0					7																	121636535		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121636535T>C	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.1028T>C	7.37:g.121636535T>C	ENSP00000377047:p.Ile343Thr					PTPRZ1_uc003vjz.2_Missense_Mutation_p.I343T	p.I343T	NM_002851	NP_002842	P23471	PTPRZ_HUMAN			9	1423	+			343			Extracellular (Potential).|Fibronectin type-III.		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.1028T>C	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.343522	0.82022	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.62364	0.03;0.03	5.92	5.92	0.95590	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.71617	0.3361	L	0.34521	1.04	0.42926	D	0.994305	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.75113	-0.3432	10	0.87932	D	0	.	16.3631	0.83280	0.0:0.0:0.0:1.0	.	343;343	C9JFM0;P23471	.;PTPRZ_HUMAN	T	343	ENSP00000377047:I343T;ENSP00000410000:I343T	ENSP00000377047:I343T	I	+	2	0	PTPRZ1	121423771	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.483000	0.81158	2.266000	0.75297	0.533000	0.62120	ATT		0.408	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		4	98	0	0	0	0	4	98				
RNF133	168433	broad.mit.edu	37	7	122338545	122338545	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr7:122338545A>C	ENST00000340112.2	-	1	665	c.428T>G	c.(427-429)tTt>tGt	p.F143C	CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000412584.2_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	143	PA.				protein autoubiquitination (GO:0051865)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						TGCCTGATGAAACATGGGGAA	0.423																																					Colon(198;1778 2057 7449 19869 45985)	uc003vkj.1		NA																	0				skin(1)	1						c.(427-429)TTT>TGT		ring finger protein 133							112.0	105.0	107.0					7																	122338545		2203	4299	6502	SO:0001583	missense	168433					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding	g.chr7:122338545A>C	AF447589	CCDS5784.1	7q31.33	2013-01-09			ENSG00000188050	ENSG00000188050		"""RING-type (C3HC4) zinc fingers"""	21154	protein-coding gene	gene with protein product							Standard	NM_139175		Approved		uc003vkj.1	Q8WVZ7	OTTHUMG00000157092	ENST00000340112.2:c.428T>G	7.37:g.122338545A>C	ENSP00000344489:p.Phe143Cys					CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron	p.F143C	NM_139175	NP_631914	Q8WVZ7	RN133_HUMAN			1	664	-			143			PA.		A4D0W2|Q8N7G7	Missense_Mutation	SNP	ENST00000340112.2	37	c.428T>G	CCDS5784.1	.	.	.	.	.	.	.	.	.	.	A	14.94	2.686871	0.48097	.	.	ENSG00000188050	ENST00000340112	T	0.06608	3.28	5.62	2.83	0.33086	Protease-associated domain, PA (1);	0.249733	0.33253	N	0.005116	T	0.11067	0.0270	L	0.43923	1.385	0.58432	D	0.999999	P	0.48640	0.913	P	0.56343	0.796	T	0.06162	-1.0842	10	0.48119	T	0.1	.	6.0954	0.20017	0.483:0.0:0.517:0.0	.	143	Q8WVZ7	RN133_HUMAN	C	143	ENSP00000344489:F143C	ENSP00000344489:F143C	F	-	2	0	RNF133	122125781	0.972000	0.33761	1.000000	0.80357	0.990000	0.78478	1.030000	0.30153	0.717000	0.32145	-0.366000	0.07423	TTT		0.423	RNF133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347413.1	NM_139175		32	58	0	0	0	0	32	58				
KLHDC10	23008	broad.mit.edu	37	7	129761910	129761910	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr7:129761910A>G	ENST00000335420.5	+	5	781	c.647A>G	c.(646-648)aAt>aGt	p.N216S		NM_014997.3	NP_055812.1	Q6PID8	KLD10_HUMAN	kelch domain containing 10	216						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						GCCATCATCAATGGCTCCCTT	0.418																																						uc003vpj.1		NA																	0					0						c.(646-648)AAT>AGT		kelch domain containing 10							110.0	88.0	96.0					7																	129761910		2203	4300	6503	SO:0001583	missense	23008							g.chr7:129761910A>G		CCDS5815.1	7q32.2	2008-08-20			ENSG00000128607	ENSG00000128607			22194	protein-coding gene	gene with protein product	"""scruin like at the midline homolog (Drosophila)"""	615152					Standard	NM_014997		Approved	KIAA0265, slim	uc003vpj.2	Q6PID8	OTTHUMG00000157654	ENST00000335420.5:c.647A>G	7.37:g.129761910A>G	ENSP00000334140:p.Asn216Ser					KLHDC10_uc003vpk.1_Missense_Mutation_p.N187S|KLHDC10_uc010lmb.1_Missense_Mutation_p.N113S	p.N216S	NM_014997	NP_055812	Q6PID8	KLD10_HUMAN			5	782	+			216			Kelch 2.		Q86Y99|Q92554	Missense_Mutation	SNP	ENST00000335420.5	37	c.647A>G	CCDS5815.1	.	.	.	.	.	.	.	.	.	.	A	12.00	1.807130	0.31961	.	.	ENSG00000128607	ENST00000335420;ENST00000468226	T;T	0.69306	-0.39;-0.39	5.47	5.47	0.80525	Galactose oxidase, beta-propeller (1);	0.090176	0.85682	D	0.000000	T	0.56775	0.2008	L	0.41492	1.28	0.48236	D	0.999613	B;B;B	0.10296	0.001;0.001;0.003	B;B;B	0.10450	0.002;0.002;0.005	T	0.52518	-0.8565	10	0.15066	T	0.55	-14.7857	14.7329	0.69397	1.0:0.0:0.0:0.0	.	65;73;216	Q96G43;Q6PID8-2;Q6PID8	.;.;KLD10_HUMAN	S	216;73	ENSP00000334140:N216S;ENSP00000420034:N73S	ENSP00000334140:N216S	N	+	2	0	KLHDC10	129549146	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.475000	0.81041	2.064000	0.61679	0.533000	0.62120	AAT		0.418	KLHDC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349347.2			7	32	0	0	0	0	7	32				
AKR1B1	231	broad.mit.edu	37	7	134135632	134135632	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr7:134135632T>C	ENST00000285930.4	-	3	336	c.257A>G	c.(256-258)aAg>aGg	p.K86R	AKR1B1_ENST00000489022.1_5'UTR	NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	86					C21-steroid hormone biosynthetic process (GO:0006700)|carbohydrate metabolic process (GO:0005975)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|electron carrier activity (GO:0009055)|glyceraldehyde oxidoreductase activity (GO:0043795)			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					Sulindac(DB00605)	CACCAGGCCCTTCTCATGGTA	0.557																																						uc003vrp.1		NA																	0		p.K86K(1)		ovary(3)	3						c.(256-258)AAG>AGG		aldo-keto reductase family 1, member B1	NADH(DB00157)|Sulindac(DB00605)						89.0	67.0	74.0					7																	134135632		2203	4300	6503	SO:0001583	missense	231				C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding	g.chr7:134135632T>C	J04795	CCDS5831.1	7q35	2010-04-08			ENSG00000085662	ENSG00000085662	1.1.1.21	"""Aldo-keto reductases"""	381	protein-coding gene	gene with protein product		103880		ALDR1		1901827	Standard	NM_001628		Approved	AR	uc003vrp.1	P15121	OTTHUMG00000155322	ENST00000285930.4:c.257A>G	7.37:g.134135632T>C	ENSP00000285930:p.Lys86Arg					AKR1B1_uc003vrq.1_RNA	p.K86R	NM_001628	NP_001619	P15121	ALDR_HUMAN			3	331	-			86					B2R8N3|Q5U031|Q6FGA4|Q6ICP2|Q9BS21|Q9UCI9	Missense_Mutation	SNP	ENST00000285930.4	37	c.257A>G	CCDS5831.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.088884	0.36855	.	.	ENSG00000085662	ENST00000285930	T	0.10192	2.9	4.94	4.94	0.65067	NADP-dependent oxidoreductase domain (3);	0.043977	0.85682	D	0.000000	T	0.07638	0.0192	N	0.25094	0.71	0.24009	N	0.996185	B	0.17852	0.024	B	0.24541	0.054	T	0.20174	-1.0283	10	0.51188	T	0.08	.	6.172	0.20422	0.0:0.1849:0.0:0.8151	.	86	P15121	ALDR_HUMAN	R	86	ENSP00000285930:K86R	ENSP00000285930:K86R	K	-	2	0	AKR1B1	133786172	0.002000	0.14202	0.964000	0.40570	0.922000	0.55478	0.657000	0.24963	1.983000	0.57843	0.459000	0.35465	AAG		0.557	AKR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339448.2	NM_001628		5	26	0	0	0	0	5	26				
KMT2C	58508	broad.mit.edu	37	7	151874913	151874913	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr7:151874913G>A	ENST00000262189.6	-	38	7843	c.7625C>T	c.(7624-7626)tCa>tTa	p.S2542L	KMT2C_ENST00000355193.2_Missense_Mutation_p.S2542L	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2542	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GCTCTGTGGTGAAAAATGCTG	0.453																																						uc003wla.2		NA								N							medulloblastoma		0				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(7624-7626)TCA>TTA		myeloid/lymphoid or mixed-lineage leukemia 3							119.0	120.0	120.0					7																	151874913		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151874913G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.7625C>T	7.37:g.151874913G>A	ENSP00000262189:p.Ser2542Leu					MLL3_uc003wkz.2_Missense_Mutation_p.S1603L|MLL3_uc003wky.2_Missense_Mutation_p.S51L	p.S2542L	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	38	7844	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	2542			Pro-rich.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.7625C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.057757	0.36277	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.83335	-1.71;-1.71	5.48	5.48	0.80851	.	0.470482	0.17554	N	0.170058	T	0.76314	0.3970	N	0.19112	0.55	0.80722	D	1	B;B;B	0.19817	0.039;0.0;0.002	B;B;B	0.16722	0.016;0.003;0.004	T	0.71646	-0.4530	10	0.87932	D	0	.	19.3591	0.94428	0.0:0.0:1.0:0.0	.	2542;1603;2542	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	MLL3_HUMAN;.;.	L	2542	ENSP00000262189:S2542L;ENSP00000347325:S2542L	ENSP00000262189:S2542L	S	-	2	0	MLL3	151505846	1.000000	0.71417	0.258000	0.24420	0.715000	0.41141	7.501000	0.81600	2.572000	0.86782	0.650000	0.86243	TCA		0.453	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			40	71	0	0	0	0	40	71				
HTR5A	3361	broad.mit.edu	37	7	154863070	154863070	+	Missense_Mutation	SNP	G	G	A	rs371035945		TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr7:154863070G>A	ENST00000287907.2	+	1	1037	c.461G>A	c.(460-462)cGc>cAc	p.R154H	HTR5A-AS1_ENST00000395731.2_5'UTR|HTR5A-AS1_ENST00000543018.1_5'UTR|HTR5A-AS1_ENST00000493904.1_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	154					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)	p.R154H(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	CTCCGCACCCGCAAGTGCGTC	0.617																																						uc003wlu.1		NA																	1	Substitution - Missense(1)		prostate(1)	ovary(2)|large_intestine(1)	3						c.(460-462)CGC>CAC		5-hydroxytryptamine receptor 5A							101.0	73.0	82.0					7																	154863070		2203	4300	6503	SO:0001583	missense	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154863070G>A		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5300	protein-coding gene	gene with protein product		601305	"""5-hydroxytryptamine (serotonin) receptor 5A"""			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.461G>A	7.37:g.154863070G>A	ENSP00000287907:p.Arg154His					uc011kvt.1_5'UTR|uc003wlt.2_5'UTR	p.R154H	NM_024012	NP_076917	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	1	525	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	154			Cytoplasmic (By similarity).		Q2M2D2	Missense_Mutation	SNP	ENST00000287907.2	37	c.461G>A	CCDS5936.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.484424	0.84854	.	.	ENSG00000157219	ENST00000287907	T	0.38240	1.15	4.75	4.75	0.60458	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.59729	0.2215	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.63857	-0.6542	10	0.72032	D	0.01	.	17.9677	0.89105	0.0:0.0:1.0:0.0	.	154	P47898	5HT5A_HUMAN	H	154	ENSP00000287907:R154H	ENSP00000287907:R154H	R	+	2	0	HTR5A	154494003	1.000000	0.71417	0.159000	0.22649	0.788000	0.44548	9.228000	0.95250	2.465000	0.83290	0.655000	0.94253	CGC		0.617	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		9	25	0	0	0	0	9	25				
CSMD1	64478	broad.mit.edu	37	8	3087643	3087643	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr8:3087643G>A	ENST00000520002.1	-	28	4822	c.4267C>T	c.(4267-4269)Cag>Tag	p.Q1423*	CSMD1_ENST00000602723.1_Nonsense_Mutation_p.Q1423*|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000539096.1_Nonsense_Mutation_p.Q1422*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.Q1423*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.Q1422*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.Q1422*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.Q1423*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1423	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCTTGGAGCTGATAGCCAGGG	0.517																																						uc011kwk.1		NA																	0				breast(20)|large_intestine(5)	25						c.(4267-4269)CAG>TAG		CUB and Sushi multiple domains 1 precursor							92.0	92.0	92.0					8																	3087643		1987	4168	6155	SO:0001587	stop_gained	64478					integral to membrane		g.chr8:3087643G>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.4267C>T	8.37:g.3087643G>A	ENSP00000430733:p.Gln1423*					CSMD1_uc011kwj.1_Nonsense_Mutation_p.Q815*|CSMD1_uc003wqe.2_Nonsense_Mutation_p.Q579*	p.Q1423*	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	27	4657	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	1423			Extracellular (Potential).|Sushi 8.		Q0H0J5|Q96QU9|Q96RM4	Nonsense_Mutation	SNP	ENST00000520002.1	37	c.4267C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	47|47	13.297298|13.297298	0.99733|0.99733	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	.|.	.|.	.|.	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	0.000000|.	0.64402|.	D|.	0.000002|.	.|T	.|0.81351	.|0.4804	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.78303	.|-0.2256	.|3	0.13108|.	T|.	0.6|.	.|.	20.8598|20.8598	0.99761|0.99761	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	1423;1423;1285;1422;1422;1422|902	.|.	ENSP00000320445:Q1285X|.	Q|S	-|-	1|2	0|0	CSMD1|CSMD1	3075050|3075050	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.894000|0.894000	0.52154|0.52154	6.320000|6.320000	0.72876|0.72876	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	CAG|TCA		0.517	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		10	16	0	0	0	0	10	16				
ZFPM2	23414	broad.mit.edu	37	8	106814630	106814630	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr8:106814630C>T	ENST00000407775.2	+	8	2570	c.2320C>T	c.(2320-2322)Caa>Taa	p.Q774*	ZFPM2_ENST00000520492.1_Nonsense_Mutation_p.Q642*|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Nonsense_Mutation_p.Q505*|ZFPM2_ENST00000517361.1_Nonsense_Mutation_p.Q642*|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	774					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TACCTCCACTCAAGAACCCAC	0.463																																						uc003ymd.2		NA																	0				ovary(4)|large_intestine(1)	5						c.(2320-2322)CAA>TAA		zinc finger protein, multitype 2							64.0	63.0	63.0					8																	106814630		1936	4139	6075	SO:0001587	stop_gained	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106814630C>T	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.2320C>T	8.37:g.106814630C>T	ENSP00000384179:p.Gln774*					ZFPM2_uc011lhs.1_Nonsense_Mutation_p.Q505*	p.Q774*	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	2343	+			774					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Nonsense_Mutation	SNP	ENST00000407775.2	37	c.2320C>T	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	C	38	7.139881	0.98088	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.88	0.96892	0.0:1.0:0.0:0.0	.	.	.	.	X	774;642;642;505	.	ENSP00000367733:Q505X	Q	+	1	0	ZFPM2	106883806	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	5.920000	0.70017	2.708000	0.92522	0.561000	0.74099	CAA		0.463	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			4	27	0	0	0	0	4	27				
LY6H	4062	broad.mit.edu	37	8	144239772	144239772	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr8:144239772C>G	ENST00000430474.2	-	4	483	c.318G>C	c.(316-318)gaG>gaC	p.E106D	LY6H_ENST00000342752.4_Missense_Mutation_p.E127D|LY6H_ENST00000414417.2_Missense_Mutation_p.E127D	NM_002347.4	NP_002338.3	O94772	LY6H_HUMAN	lymphocyte antigen 6 complex, locus H	106					nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				endometrium(1)|lung(1)|stomach(2)	4	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					ACAAATCCTTCTCGCAGCAGT	0.612																																						uc011lka.1		NA																	0					0						c.(316-318)GAG>GAC		lymphocyte antigen 6 complex, locus H isoform a							86.0	94.0	91.0					8																	144239772		2203	4300	6503	SO:0001583	missense	4062				nervous system development|organ morphogenesis	anchored to membrane|plasma membrane		g.chr8:144239772C>G	AB012293	CCDS6396.1, CCDS47926.1	8q24.3	2008-08-01			ENSG00000176956	ENSG00000176956			6728	protein-coding gene	gene with protein product		603625				9799603	Standard	NM_001130478		Approved	NMLY6	uc011lkb.2	O94772	OTTHUMG00000154890	ENST00000430474.2:c.318G>C	8.37:g.144239772C>G	ENSP00000409899:p.Glu106Asp					LY6H_uc011lkb.1_Missense_Mutation_p.E127D|LY6H_uc003yxt.2_Missense_Mutation_p.E144D|LY6H_uc011lkc.1_Missense_Mutation_p.E127D	p.E106D	NM_002347	NP_002338	O94772	LY6H_HUMAN			4	484	-	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		106					B2RAD2|J3KQI0|Q6IAX0	Missense_Mutation	SNP	ENST00000430474.2	37	c.318G>C	CCDS6396.1	.	.	.	.	.	.	.	.	.	.	c	12.81	2.049962	0.36181	.	.	ENSG00000176956	ENST00000430474;ENST00000342752;ENST00000414417	T;T;T	0.70282	-0.47;-0.47;-0.47	4.22	-0.314	0.12750	Ly-6 antigen / uPA receptor -like (1);CD59 antigen (1);	.	.	.	.	T	0.49541	0.1563	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.28459	-1.0043	9	0.21014	T	0.42	-1.186	7.2213	0.25988	0.0:0.3773:0.5182:0.1045	.	106	O94772	LY6H_HUMAN	D	106;127;127	ENSP00000409899:E106D;ENSP00000342711:E127D;ENSP00000399485:E127D	ENSP00000342711:E127D	E	-	3	2	LY6H	144311147	0.000000	0.05858	0.013000	0.15412	0.981000	0.71138	0.067000	0.14510	0.120000	0.18254	0.561000	0.74099	GAG		0.612	LY6H-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337535.1			5	49	0	0	0	0	5	49				
RIC1	57589	broad.mit.edu	37	9	5773076	5773076	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr9:5773076G>C	ENST00000414202.2	+	25	4170	c.3979G>C	c.(3979-3981)Gac>Cac	p.D1327H	KIAA1432_ENST00000449720.2_Missense_Mutation_p.D1211H|KIAA1432_ENST00000418622.3_Missense_Mutation_p.D1248H	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		GGCCTCTACAGACTGGTAAGT	0.443																																						uc003zji.2		NA																	0					0						c.(3742-3744)GAC>CAC		connexin 43-interacting protein 150 isoform a							78.0	73.0	75.0					9																	5773076		2203	4300	6503	SO:0001583	missense	57589					integral to membrane		g.chr9:5773076G>C																												ENST00000414202.2:c.3979G>C	9.37:g.5773076G>C	ENSP00000416696:p.Asp1327His					KIAA1432_uc003zjl.3_Missense_Mutation_p.D1211H|ERMP1_uc011lme.1_Intron	p.D1248H	NM_020829	NP_065880	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	24	3835	+		Acute lymphoblastic leukemia(23;0.154)	1327						Missense_Mutation	SNP	ENST00000414202.2	37	c.3742G>C	CCDS34982.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.71|18.71	3.682728|3.682728	0.68157|0.68157	.|.	.|.	ENSG00000107036|ENSG00000107036	ENST00000414202;ENST00000418622;ENST00000449720;ENST00000490816|ENST00000545641	.|.	.|.	.|.	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	0.048263|.	0.85682|.	D|.	0.000000|.	T|T	0.75796|0.75796	0.3898|0.3898	M|M	0.67953|0.67953	2.075|2.075	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.68192|.	0.956;0.956|.	T|T	0.72934|0.72934	-0.4141|-0.4141	9|5	0.51188|.	T|.	0.08|.	-20.5143|-20.5143	19.9983|19.9983	0.97395|0.97395	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1211;1327|.	B7ZM67;Q4ADV7|.	.;RIC1_HUMAN|.	H|T	1327;1248;1211;146|1218	.|.	ENSP00000416696:D1327H|.	D|R	+|+	1|2	0|0	KIAA1432|KIAA1432	5763076|5763076	1.000000|1.000000	0.71417|0.71417	0.885000|0.885000	0.34714|0.34714	0.266000|0.266000	0.26442|0.26442	9.476000|9.476000	0.97823|0.97823	2.724000|2.724000	0.93272|0.93272	0.561000|0.561000	0.74099|0.74099	GAC|AGA		0.443	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			6	25	0	0	0	0	6	25				
VCP	7415	broad.mit.edu	37	9	35059698	35059698	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr9:35059698C>T	ENST00000358901.6	-	14	2691	c.1796G>A	c.(1795-1797)cGa>cAa	p.R599Q		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	599					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GTTGATGACTCGGTCAGCAGC	0.522																																						uc003zvy.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(1795-1797)CGA>CAA		valosin-containing protein							165.0	136.0	146.0					9																	35059698		2203	4300	6503	SO:0001583	missense	7415				activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding	g.chr9:35059698C>T	AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"""ATPases / AAA-type"""	12666	protein-coding gene	gene with protein product		601023	"""valosin-containing protein"""			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.1796G>A	9.37:g.35059698C>T	ENSP00000351777:p.Arg599Gln					VCP_uc003zvz.2_RNA|VCP_uc010mkh.1_Missense_Mutation_p.R268Q|VCP_uc010mki.1_Missense_Mutation_p.R554Q	p.R599Q	NM_007126	NP_009057	P55072	TERA_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		14	2185	-			599					B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Missense_Mutation	SNP	ENST00000358901.6	37	c.1796G>A	CCDS6573.1	.	.	.	.	.	.	.	.	.	.	C	35	5.475963	0.96291	.	.	ENSG00000165280	ENST00000358901	D	0.93659	-3.26	6.07	5.17	0.71159	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.96204	0.8762	M	0.75615	2.305	0.80722	D	1	D	0.76494	0.999	D	0.68353	0.957	D	0.96655	0.9484	10	0.87932	D	0	-23.334	15.583	0.76459	0.0:0.9341:0.0:0.0659	.	599	P55072	TERA_HUMAN	Q	599	ENSP00000351777:R599Q	ENSP00000351777:R599Q	R	-	2	0	VCP	35049698	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	1.577000	0.49804	0.655000	0.94253	CGA		0.522	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052290.1	NM_007126		18	87	0	0	0	0	18	87				
VCP	7415	broad.mit.edu	37	9	35061650	35061650	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr9:35061650T>A	ENST00000358901.6	-	10	2013	c.1118A>T	c.(1117-1119)gAt>gTt	p.D373V		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	373					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TCCTGTAGCATCAGGAATTCC	0.478																																						uc003zvy.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(1117-1119)GAT>GTT		valosin-containing protein							275.0	240.0	252.0					9																	35061650		2203	4300	6503	SO:0001583	missense	7415				activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding	g.chr9:35061650T>A	AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"""ATPases / AAA-type"""	12666	protein-coding gene	gene with protein product		601023	"""valosin-containing protein"""			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.1118A>T	9.37:g.35061650T>A	ENSP00000351777:p.Asp373Val					VCP_uc003zvz.2_RNA|VCP_uc010mkh.1_Missense_Mutation_p.D42V|VCP_uc010mki.1_Missense_Mutation_p.D328V	p.D373V	NM_007126	NP_009057	P55072	TERA_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		10	1507	-			373					B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Missense_Mutation	SNP	ENST00000358901.6	37	c.1118A>T	CCDS6573.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.317939	0.81469	.	.	ENSG00000165280	ENST00000358901	D	0.95821	-3.82	5.93	5.93	0.95920	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.99004	0.9660	H	0.99842	4.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98977	1.0803	10	0.87932	D	0	-11.2965	16.3943	0.83563	0.0:0.0:0.0:1.0	.	373	P55072	TERA_HUMAN	V	373	ENSP00000351777:D373V	ENSP00000351777:D373V	D	-	2	0	VCP	35051650	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.005000	0.88553	2.281000	0.76405	0.533000	0.62120	GAT		0.478	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052290.1	NM_007126		11	187	0	0	0	0	11	187				
SHB	6461	broad.mit.edu	37	9	37948721	37948721	+	Silent	SNP	G	G	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr9:37948721G>A	ENST00000377707.3	-	5	1822	c.1257C>T	c.(1255-1257)gaC>gaT	p.D419D	RP11-613M10.9_ENST00000540557.1_3'UTR	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	419	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		GGTTCTCGGCGTCTCCTCTGC	0.607																																						uc004aax.2		NA																	0				central_nervous_system(2)|skin(1)	3						c.(1255-1257)GAC>GAT		Src homology 2 domain containing adaptor protein							60.0	68.0	65.0					9																	37948721		2185	4286	6471	SO:0001819	synonymous_variant	6461				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity	g.chr9:37948721G>A		CCDS43806.1	9p13.2	2013-09-23	2005-05-24		ENSG00000107338	ENSG00000107338		"""SH2 domain containing"""	10838	protein-coding gene	gene with protein product		600314	"""SHB adaptor protein (a Src homology 2 protein)"", ""SHB (Src homology 2 domain containing) adaptor protein B"""			7713524	Standard	NM_003028		Approved		uc004aax.3	Q15464	OTTHUMG00000019936	ENST00000377707.3:c.1257C>T	9.37:g.37948721G>A							p.D419D	NM_003028	NP_003019	Q15464	SHB_HUMAN		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)	5	1825	-		all_epithelial(88;0.122)	419			SH2.		B9EGM0|D3DRQ5|Q504U5|Q5VUM8	Silent	SNP	ENST00000377707.3	37	c.1257C>T	CCDS43806.1																																																																																				0.607	SHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052490.1			7	107	0	0	0	0	7	107				
ZNF367	195828	broad.mit.edu	37	9	99150720	99150720	+	Silent	SNP	C	C	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr9:99150720C>T	ENST00000375256.4	-	5	1148	c.852G>A	c.(850-852)caG>caA	p.Q284Q		NM_153695.3	NP_710162.1	Q7RTV3	ZN367_HUMAN	zinc finger protein 367	284					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1)	12		Acute lymphoblastic leukemia(62;0.0167)				TGGGGGTGCGCTGCTCTCTCA	0.438																																						uc004awf.2		NA																	0					0						c.(850-852)CAG>CAA		zinc finger protein 367							73.0	76.0	75.0					9																	99150720		2203	4300	6503	SO:0001819	synonymous_variant	195828				regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:99150720C>T	AK091289	CCDS6718.1	9q22	2008-05-02			ENSG00000165244	ENSG00000165244		"""Zinc fingers, C2H2-type"""	18320	protein-coding gene	gene with protein product		610160					Standard	NM_153695		Approved	FLJ33970	uc004awf.3	Q7RTV3	OTTHUMG00000020295	ENST00000375256.4:c.852G>A	9.37:g.99150720C>T							p.Q284Q	NM_153695	NP_710162	Q7RTV3	ZN367_HUMAN			5	1207	-		Acute lymphoblastic leukemia(62;0.0167)	284					Q6Q7C8	Silent	SNP	ENST00000375256.4	37	c.852G>A	CCDS6718.1																																																																																				0.438	ZNF367-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053266.1			24	41	0	0	0	0	24	41				
COQ4	51117	broad.mit.edu	37	9	131088088	131088088	+	Silent	SNP	C	C	G			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr9:131088088C>G	ENST00000300452.3	+	4	653	c.330C>G	c.(328-330)ctC>ctG	p.L110L	COQ4_ENST00000372875.3_Silent_p.L110L	NM_016035.3	NP_057119			coenzyme Q4											endometrium(4)|large_intestine(1)|lung(4)	9						CATCCACCCTCGACCTGGGCA	0.582																																						uc004bur.3		NA																	0					0						c.(328-330)CTC>CTG		coenzyme Q4 homolog precursor							90.0	79.0	83.0					9																	131088088		2203	4300	6503	SO:0001819	synonymous_variant	51117				ubiquinone biosynthetic process	mitochondrial inner membrane		g.chr9:131088088C>G	AF151850	CCDS6898.1	9q34.2	2013-10-18	2013-10-18		ENSG00000167113	ENSG00000167113			19693	protein-coding gene	gene with protein product		612898	"""coenzyme Q4 homolog (yeast)"", ""coenzyme Q4 homolog (S. cerevisiae)"""			11469793, 18474229	Standard	NM_016035		Approved	CGI-92	uc004bur.4	Q9Y3A0	OTTHUMG00000020743	ENST00000300452.3:c.330C>G	9.37:g.131088088C>G						COQ4_uc011max.1_Silent_p.L110L|COQ4_uc004bus.2_Silent_p.L86L|COQ4_uc010mxy.2_Silent_p.L86L	p.L110L	NM_016035	NP_057119	Q9Y3A0	COQ4_HUMAN			4	677	+			110						Silent	SNP	ENST00000300452.3	37	c.330C>G	CCDS6898.1																																																																																				0.582	COQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054427.1	NM_016035		13	31	0	0	0	0	13	31				
MAGEB6	158809	broad.mit.edu	37	X	26212225	26212225	+	Missense_Mutation	SNP	G	G	T	rs140212002		TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chrX:26212225G>T	ENST00000379034.1	+	2	411	c.262G>T	c.(262-264)Ggc>Tgc	p.G88C		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	88	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GGCTGCCAACGGCCAAGATGA	0.542																																						uc004dbr.2		NA																	0				ovary(3)	3						c.(262-264)GGC>TGC		melanoma antigen family B, 6							87.0	81.0	83.0					X																	26212225		2202	4300	6502	SO:0001583	missense	158809							g.chrX:26212225G>T	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.262G>T	X.37:g.26212225G>T	ENSP00000368320:p.Gly88Cys					MAGEB6_uc010ngc.1_5'UTR	p.G88C	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN			2	411	+			88			Ser-rich.		Q6GS19|Q9H219	Missense_Mutation	SNP	ENST00000379034.1	37	c.262G>T	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	G	9.039	0.989306	0.18966	.	.	ENSG00000176746	ENST00000379034	T	0.04551	3.6	1.02	-1.87	0.07737	Melanoma associated antigen, MAGE, N-terminal (1);	.	.	.	.	T	0.09335	0.0230	L	0.39147	1.195	0.09310	N	1	D	0.89917	1.0	D	0.65323	0.934	T	0.18903	-1.0322	9	0.66056	D	0.02	.	4.6057	0.12376	0.4543:0.0:0.5457:0.0	.	88	Q8N7X4	MAGB6_HUMAN	C	88	ENSP00000368320:G88C	ENSP00000368320:G88C	G	+	1	0	MAGEB6	26122146	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.070000	0.11523	-0.814000	0.04352	-0.435000	0.05868	GGC		0.542	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		10	18	1	0	2.81e-09	3.26e-09	10	18				
MAGEB1	4112	broad.mit.edu	37	X	30268842	30268842	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chrX:30268842G>T	ENST00000378981.3	+	4	553	c.232G>T	c.(232-234)Gaa>Taa	p.E78*	MAGEB1_ENST00000397548.2_Nonsense_Mutation_p.E78*|MAGEB1_ENST00000397550.1_Nonsense_Mutation_p.E78*	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	78										NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						GTCATGTACCGAATCTGACGA	0.552																																						uc004dcc.2		NA																	0					0						c.(232-234)GAA>TAA		melanoma antigen family B, 1							48.0	35.0	39.0					X																	30268842		2202	4300	6502	SO:0001587	stop_gained	4112							g.chrX:30268842G>T		CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 10"", ""cancer/testis antigen family 3, member 1"""	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.232G>T	X.37:g.30268842G>T	ENSP00000368264:p.Glu78*					MAGEB1_uc004dcd.2_Nonsense_Mutation_p.E78*|MAGEB1_uc004dce.2_Nonsense_Mutation_p.E78*	p.E78*	NM_002363	NP_002354	P43366	MAGB1_HUMAN			4	552	+			78					B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Nonsense_Mutation	SNP	ENST00000378981.3	37	c.232G>T	CCDS14222.1	.	.	.	.	.	.	.	.	.	.	g	15.52	2.856517	0.51376	.	.	ENSG00000214107	ENST00000378981;ENST00000397550;ENST00000397548	.	.	.	3.99	-1.61	0.08399	.	2.337210	0.01741	N	0.029388	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	7.5197	0.27620	0.6804:0.0:0.3196:0.0	.	.	.	.	X	78	.	ENSP00000368264:E78X	E	+	1	0	MAGEB1	30178763	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.037000	0.12164	-0.347000	0.08299	-1.199000	0.01669	GAA		0.552	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056160.1	NM_002363		5	8	1	0	1.24e-05	1.34e-05	5	8				
DMD	1756	broad.mit.edu	37	X	31497125	31497125	+	Silent	SNP	T	T	C			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chrX:31497125T>C	ENST00000357033.4	-	58	8849	c.8643A>G	c.(8641-8643)ctA>ctG	p.L2881L	DMD_ENST00000445312.1_5'UTR|DMD_ENST00000541735.1_Silent_p.L421L|DMD_ENST00000359836.1_Silent_p.L421L|DMD_ENST00000474231.1_Silent_p.L421L|DMD_ENST00000378707.3_Silent_p.L421L|DMD_ENST00000378677.2_Silent_p.L2877L|DMD_ENST00000343523.2_Silent_p.L421L	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2881					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGAGTTTCTCTAGTCCTTCCA	0.428																																						uc004dda.1		NA																	0				ovary(3)|pancreas(2)|large_intestine(1)	6						c.(8641-8643)CTA>CTG		dystrophin Dp427m isoform							111.0	99.0	103.0					X																	31497125		2202	4300	6502	SO:0001819	synonymous_variant	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31497125T>C	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.8643A>G	X.37:g.31497125T>C						DMD_uc004dcq.1_Silent_p.L152L|DMD_uc004dcr.1_Silent_p.L421L|DMD_uc004dcs.1_Silent_p.L421L|DMD_uc004dct.1_Silent_p.L421L|DMD_uc004dcu.1_Silent_p.L421L|DMD_uc004dcv.1_Silent_p.L421L|DMD_uc004dcw.2_Silent_p.L1537L|DMD_uc004dcx.2_Silent_p.L1540L|DMD_uc004dcz.2_Silent_p.L2758L|DMD_uc004dcy.1_Silent_p.L2877L|DMD_uc004ddb.1_Silent_p.L2873L	p.L2881L	NM_004006	NP_003997	P11532	DMD_HUMAN			58	8887	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2881			Spectrin 20.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	c.8643A>G	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	T	7.636	0.679946	0.14907	.	.	ENSG00000198947	ENST00000465285	.	.	.	5.24	-0.406	0.12389	.	.	.	.	.	T	0.51176	0.1659	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39251	-0.9623	4	.	.	.	.	6.0208	0.19628	0.1284:0.4013:0.0:0.4703	.	.	.	.	G	610	.	.	R	-	1	2	DMD	31407046	0.974000	0.33945	0.997000	0.53966	0.998000	0.95712	-0.048000	0.11944	-0.039000	0.13602	0.486000	0.48141	AGA		0.428	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		14	9	0	0	0	0	14	9				
SMC1A	8243	broad.mit.edu	37	X	53421731	53421731	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chrX:53421731C>G	ENST00000322213.4	-	19	3067	c.2940G>C	c.(2938-2940)gaG>gaC	p.E980D		NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	980					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CGTAGTCAATCTCAATGAGGG	0.542																																						uc004dsg.2		NA																	0				ovary(5)|central_nervous_system(1)	6						c.(2938-2940)GAG>GAC		structural maintenance of chromosomes 1A							123.0	89.0	101.0					X																	53421731		2203	4300	6503	SO:0001583	missense	8243				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity	g.chrX:53421731C>G	S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"""Structural maintenance of chromosomes proteins"""	11111	protein-coding gene	gene with protein product		300040	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"""	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.2940G>C	X.37:g.53421731C>G	ENSP00000323421:p.Glu980Asp					SMC1A_uc011moe.1_Missense_Mutation_p.E958D	p.E980D	NM_006306	NP_006297	Q14683	SMC1A_HUMAN			19	3009	-			980					O14995|Q16351|Q2M228	Missense_Mutation	SNP	ENST00000322213.4	37	c.2940G>C	CCDS14352.1	.	.	.	.	.	.	.	.	.	.	-	15.83	2.948320	0.53186	.	.	ENSG00000072501	ENST00000322213	T	0.78707	-1.2	5.19	4.31	0.51392	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.75057	0.3798	L	0.58354	1.805	0.80722	D	1	P	0.51147	0.942	P	0.47015	0.534	T	0.74272	-0.3719	10	0.37606	T	0.19	.	9.3449	0.38102	0.0:0.8213:0.0:0.1787	.	980	Q14683	SMC1A_HUMAN	D	980	ENSP00000323421:E980D	ENSP00000323421:E980D	E	-	3	2	SMC1A	53438456	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	0.746000	0.26275	2.323000	0.78572	0.597000	0.82753	GAG		0.542	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306		4	26	0	0	0	0	4	26				
XKRX	402415	broad.mit.edu	37	X	100169656	100169656	+	Missense_Mutation	SNP	C	C	A	rs566350933		TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chrX:100169656C>A	ENST00000372956.2	-	3	1625	c.1021G>T	c.(1021-1023)Gac>Tac	p.D341Y	XKRX_ENST00000328526.5_Missense_Mutation_p.D354Y|XKRX_ENST00000468904.1_3'UTR			Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	341						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						TGCCCTTTGTCGACGAGATCT	0.478																																						uc004egn.2		NA																	0				breast(1)	1						c.(1021-1023)GAC>TAC		XK, Kell blood group complex subunit-related,							173.0	158.0	163.0					X																	100169656		2203	4300	6503	SO:0001583	missense	402415					integral to membrane|plasma membrane		g.chrX:100169656C>A	AY589511	CCDS14476.1, CCDS14476.2	Xq22	2008-02-05	2006-01-12		ENSG00000182489	ENSG00000182489			29845	protein-coding gene	gene with protein product		300684	"""X Kell blood group precursor-related, X-linked"""				Standard	NM_212559		Approved	XPLAC, XKR2	uc004egn.2	Q6PP77	OTTHUMG00000022010	ENST00000372956.2:c.1021G>T	X.37:g.100169656C>A	ENSP00000362047:p.Asp341Tyr					XKRX_uc011mre.1_Missense_Mutation_p.D137Y	p.D341Y	NM_212559	NP_997724	Q6PP77	XKR2_HUMAN			3	1626	-			341					B2RNN6|B4DKU2|Q5H9J6	Missense_Mutation	SNP	ENST00000372956.2	37	c.1021G>T	CCDS14476.2	.	.	.	.	.	.	.	.	.	.	C	18.10	3.548164	0.65311	.	.	ENSG00000182489	ENST00000328526;ENST00000372956	T;T	0.64085	-0.08;-0.08	5.74	5.74	0.90152	.	0.343688	0.36703	N	0.002444	T	0.69178	0.3082	L	0.38175	1.15	0.58432	D	0.999991	P	0.46512	0.879	P	0.55391	0.775	T	0.71111	-0.4687	10	0.66056	D	0.02	-6.7194	18.8903	0.92397	0.0:1.0:0.0:0.0	.	341	Q6PP77	XKR2_HUMAN	Y	354;341	ENSP00000327570:D354Y;ENSP00000362047:D341Y	ENSP00000327570:D354Y	D	-	1	0	XKRX	100056312	0.999000	0.42202	1.000000	0.80357	0.956000	0.61745	3.117000	0.50407	2.408000	0.81797	0.544000	0.68410	GAC		0.478	XKRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057501.3	NM_212559		60	66	1	0	5.09e-23	6.15e-23	60	66				
BCORL1	63035	broad.mit.edu	37	X	129147536	129147536	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chrX:129147536C>T	ENST00000218147.7	+	4	985	c.788C>T	c.(787-789)cCg>cTg	p.P263L	BCORL1_ENST00000359304.2_Missense_Mutation_p.P263L|BCORL1_ENST00000540052.1_Missense_Mutation_p.P263L|BCORL1_ENST00000303743.5_Missense_Mutation_p.P263L			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	263	Pro-rich.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CCAGCGCCACCGTCAGTGCCC	0.627																																						uc004evb.1		NA																	0				ovary(4)|breast(2)|lung(1)	7						c.(787-789)CCG>CTG		BCL6 co-repressor-like 1							120.0	106.0	111.0					X																	129147536		2203	4300	6503	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129147536C>T	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.788C>T	X.37:g.129147536C>T	ENSP00000218147:p.Pro263Leu					BCORL1_uc010nrd.1_Missense_Mutation_p.P165L	p.P263L	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN			4	902	+			263			Pro-rich.		B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.788C>T	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	C	4.384	0.070823	0.08436	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052	T;T;T;T	0.54071	0.64;1.03;0.59;0.64	4.0	3.12	0.35913	.	0.000000	0.33272	N	0.005095	T	0.31231	0.0790	N	0.08118	0	0.09310	N	1	D;D	0.60575	0.988;0.98	P;B	0.48270	0.572;0.368	T	0.07849	-1.0751	9	.	.	.	-10.4372	4.3162	0.10995	0.0:0.6333:0.2344:0.1323	.	263;263	Q5H9F3-2;Q5H9F3	.;BCORL_HUMAN	L	263	ENSP00000218147:P263L;ENSP00000307541:P263L;ENSP00000352253:P263L;ENSP00000437775:P263L	.	P	+	2	0	BCORL1	128975217	0.051000	0.20477	0.035000	0.18076	0.028000	0.11728	1.194000	0.32174	1.963000	0.57068	0.436000	0.28706	CCG		0.627	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		16	49	0	0	0	0	16	49				
SLITRK4	139065	broad.mit.edu	37	X	142718314	142718314	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chrX:142718314C>T	ENST00000381779.4	-	2	836	c.611G>A	c.(610-612)cGt>cAt	p.R204H	SLITRK4_ENST00000338017.4_Missense_Mutation_p.R204H|SLITRK4_ENST00000356928.1_Missense_Mutation_p.R204H	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	204						integral component of membrane (GO:0016021)		p.R204H(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TTCAACGACACGGCCAATGTG	0.428																																						uc004fbx.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	upper_aerodigestive_tract(1)|large_intestine(1)	2						c.(610-612)CGT>CAT		slit and trk like 4 protein precursor							86.0	82.0	84.0					X																	142718314		2203	4300	6503	SO:0001583	missense	139065					integral to membrane		g.chrX:142718314C>T	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.611G>A	X.37:g.142718314C>T	ENSP00000371198:p.Arg204His					SLITRK4_uc004fby.2_Missense_Mutation_p.R204H	p.R204H	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN			2	987	-	Acute lymphoblastic leukemia(192;6.56e-05)		204			Extracellular (Potential).		Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	c.611G>A	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.908800	0.52439	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.52526	0.66;0.66;0.66	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.54581	0.1867	N	0.17764	0.52	0.80722	D	1	D	0.76494	0.999	D	0.67725	0.953	T	0.59139	-0.7510	10	0.59425	D	0.04	-6.3467	17.313	0.87214	0.0:1.0:0.0:0.0	.	204	Q8IW52	SLIK4_HUMAN	H	204	ENSP00000371198:R204H;ENSP00000349400:R204H;ENSP00000336627:R204H	ENSP00000336627:R204H	R	-	2	0	SLITRK4	142545980	1.000000	0.71417	0.840000	0.33206	0.462000	0.32619	7.818000	0.86416	2.412000	0.81896	0.597000	0.82753	CGT		0.428	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		25	54	0	0	0	0	25	54				
PASD1	139135	broad.mit.edu	37	X	150817138	150817138	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chrX:150817138A>C	ENST00000370357.4	+	9	926	c.681A>C	c.(679-681)gaA>gaC	p.E227D		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	227						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TGTACGTTGAACCCgctgctg	0.433																																						uc004fev.3		NA																	0				ovary(3)	3						c.(679-681)GAA>GAC		PAS domain containing 1							87.0	85.0	86.0					X																	150817138		2203	4299	6502	SO:0001583	missense	139135					nucleus	signal transducer activity	g.chrX:150817138A>C	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.681A>C	X.37:g.150817138A>C	ENSP00000359382:p.Glu227Asp						p.E227D	NM_173493	NP_775764	Q8IV76	PASD1_HUMAN			9	1013	+	Acute lymphoblastic leukemia(192;6.56e-05)		227					Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	ENST00000370357.4	37	c.681A>C	CCDS35431.1	.	.	.	.	.	.	.	.	.	.	A	12.39	1.923523	0.33908	.	.	ENSG00000166049	ENST00000370357	T	0.72051	-0.62	3.93	-7.86	0.01187	.	.	.	.	.	T	0.40791	0.1131	L	0.27053	0.805	0.09310	N	1	P	0.40332	0.713	B	0.33339	0.162	T	0.38178	-0.9673	9	0.20046	T	0.44	.	1.0146	0.01505	0.1825:0.3173:0.271:0.2292	.	227	Q8IV76	PASD1_HUMAN	D	227	ENSP00000359382:E227D	ENSP00000359382:E227D	E	+	3	2	PASD1	150567794	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-1.948000	0.01533	-2.488000	0.00518	0.345000	0.21793	GAA		0.433	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		10	74	0	0	0	0	10	74				
TAZ	6901	broad.mit.edu	37	X	153649016	153649016	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chrX:153649016G>A	ENST00000350743.4	+	9	918	c.629G>A	c.(628-630)gGg>gAg	p.G210E	TAZ_ENST00000475699.1_Missense_Mutation_p.G213E|TAZ_ENST00000369776.4_Missense_Mutation_p.G210E|TAZ_ENST00000369790.4_Missense_Mutation_p.G196E|TAZ_ENST00000351413.4_Missense_Mutation_p.G226E|TAZ_ENST00000498029.1_3'UTR|TAZ_ENST00000299328.5_Missense_Mutation_p.G240E	NM_181311.2	NP_851828.1	Q9GZV5	WWTR1_HUMAN	tafazzin	0	Gln-rich.				cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|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)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			lung(1)	1	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTGCTGATCGGGAAGCCCTTC	0.642																																						uc004fkx.2		NA																	0					0						c.(718-720)GGG>GAG		tafazzin isoform 1							75.0	69.0	71.0					X																	153649016		2203	4300	6503	SO:0001583	missense	6901				cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity	g.chrX:153649016G>A	X92762	CCDS14748.1, CCDS14749.1, CCDS14750.1, CCDS35450.1	Xq28	2014-09-17	2008-07-29		ENSG00000102125	ENSG00000102125			11577	protein-coding gene	gene with protein product	"""Barth syndrome"""	300394	"""endocardial fibroelastosis 2"", ""cardiomyopathy, dilated 3A (X-linked)"""	CMD3A, EFE2, EFE		8042670	Standard	NM_000116		Approved	BTHS, XAP-2, G4.5	uc004fkx.3	Q16635	OTTHUMG00000033190	ENST00000350743.4:c.629G>A	X.37:g.153649016G>A	ENSP00000338891:p.Gly210Glu					TAZ_uc004fky.2_Missense_Mutation_p.G226E|TAZ_uc004fkz.2_RNA|TAZ_uc004fla.2_Missense_Mutation_p.G210E|TAZ_uc004flb.2_Missense_Mutation_p.G196E|TAZ_uc010nuy.2_Missense_Mutation_p.G244E|TAZ_uc004flc.3_Missense_Mutation_p.G210E	p.G240E	NM_000116	NP_000107	Q16635	TAZ_HUMAN			10	1023	+	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		240					D3DNH7|Q8N3P2|Q9Y3W6	Missense_Mutation	SNP	ENST00000350743.4	37	c.719G>A	CCDS14749.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.701313	0.68501	.	.	ENSG00000102125	ENST00000369790;ENST00000299328;ENST00000350743;ENST00000351413;ENST00000369776;ENST00000475699	D;D;D;D;D;D	0.99887	-3.7;-3.7;-3.7;-3.7;-7.53;-3.7	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	D	0.99894	0.9949	M	0.89601	3.045	0.58432	D	0.999994	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;0.999	D	0.95989	0.8984	10	0.87932	D	0	-8.2717	14.4766	0.67551	0.0:0.0:1.0:0.0	.	244;210;196;210;226;240	A6XNE1;Q96F92;Q16635-7;Q16635-3;Q16635-5;Q16635	.;.;.;.;.;TAZ_HUMAN	E	196;240;210;226;210;213	ENSP00000358805:G196E;ENSP00000299328:G240E;ENSP00000338891:G210E;ENSP00000218246:G226E;ENSP00000358791:G210E;ENSP00000419854:G213E	ENSP00000299328:G240E	G	+	2	0	TAZ	153302210	1.000000	0.71417	0.704000	0.30370	0.925000	0.55904	5.508000	0.67006	1.995000	0.58328	0.525000	0.51046	GGG		0.642	TAZ-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080939.1			18	19	0	0	0	0	18	19				
F8	2157	broad.mit.edu	37	X	154221234	154221234	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chrX:154221234C>G	ENST00000360256.4	-	4	778	c.578G>C	c.(577-579)gGa>gCa	p.G193A		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	193	F5/8 type A 1.|Plastocyanin-like 1.		G -> R (in HEMA; severe familial). {ECO:0000269|PubMed:11341489}.		acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TAGTAGGGCTCCAATGAGGCC	0.413																																						uc004fmt.2		NA																	0				ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	GRCh37	CM080299	F8	M		c.(577-579)GGA>GCA		coagulation factor VIII isoform a precursor	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						156.0	133.0	140.0					X																	154221234		2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154221234C>G	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.578G>C	X.37:g.154221234C>G	ENSP00000353393:p.Gly193Ala					F8_uc011mzx.1_Missense_Mutation_p.G158A	p.G193A	NM_000132	NP_000123	P00451	FA8_HUMAN			4	749	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		193		G -> R (in HEMA; severe familial).	Plastocyanin-like 1.|F5/8 type A 1.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.578G>C	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.105860	0.56291	.	.	ENSG00000185010	ENST00000360256;ENST00000423959	D;D	0.99872	-7.36;-7.36	4.88	4.88	0.63580	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99885	0.9945	H	0.94734	3.575	0.43729	D	0.996211	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96357	0.9263	10	0.87932	D	0	-18.2227	12.7501	0.57304	0.0:1.0:0.0:0.0	.	158;193	B1B0G8;P00451	.;FA8_HUMAN	A	193;158	ENSP00000353393:G193A;ENSP00000409446:G158A	ENSP00000353393:G193A	G	-	2	0	F8	153874428	1.000000	0.71417	1.000000	0.80357	0.106000	0.19336	6.654000	0.74387	2.154000	0.67381	0.523000	0.50628	GGA		0.413	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			3	79	0	0	0	0	3	79				
BMS1	9790	broad.mit.edu	37	10	43312844	43312846	+	In_Frame_Del	DEL	AAG	AAG	-	rs548237184		TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr10:43312844_43312846delAAG	ENST00000374518.5	+	15	2545_2547	c.2482_2484delAAG	c.(2482-2484)aagdel	p.K829del		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	829					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GCATTTGGATAAGAAGAGAAAAT	0.34																																						uc001jaj.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(2482-2484)AAGdel		BMS1-like, ribosome assembly protein																																				SO:0001651	inframe_deletion	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43312844_43312846delAAG	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.2482_2484delAAG	10.37:g.43312847_43312849delAAG	ENSP00000363642:p.Lys829del						p.K829del	NM_014753	NP_055568	Q14692	BMS1_HUMAN			15	2840_2842	+			829					Q5QPT5|Q86XJ9	In_Frame_Del	DEL	ENST00000374518.5	37	c.2482_2484delAAG	CCDS7199.1																																																																																				0.340	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		7	60	NA	NA	NA	NA	7	60	---	---	---	---
TMEM134	80194	broad.mit.edu	37	11	67232544	67232544	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr11:67232544delT	ENST00000308022.2	-	5	475	c.434delA	c.(433-435)gagfs	p.E145fs	CTC-1337H24.2_ENST00000602944.1_lincRNA|TMEM134_ENST00000541059.1_5'UTR|TMEM134_ENST00000393877.3_Intron	NM_001078651.1|NM_025124.2	NP_001072119.1|NP_079400.1	Q9H6X4	TM134_HUMAN	transmembrane protein 134	145						integral component of membrane (GO:0016021)				endometrium(1)|lung(1)	2						GGGGGTCGCCTCCAGTCCCAC	0.731																																						uc001olq.1		NA																	0					0						c.(433-435)GAGfs		transmembrane protein 134 isoform a							10.0	11.0	10.0					11																	67232544		2174	4240	6414	SO:0001589	frameshift_variant	80194					integral to membrane		g.chr11:67232544delT	AK025402	CCDS8167.1, CCDS41678.1	11q13.2	2006-03-09			ENSG00000172663	ENSG00000172663			26142	protein-coding gene	gene with protein product							Standard	NM_025124		Approved	FLJ21749	uc001olq.2	Q9H6X4	OTTHUMG00000168034	ENST00000308022.2:c.434delA	11.37:g.67232544delT	ENSP00000312615:p.Glu145fs					TMEM134_uc001olp.1_Frame_Shift_Del_p.E136fs|TMEM134_uc001olr.1_Intron|TMEM134_uc001ols.1_RNA|TMEM134_uc001olt.1_RNA	p.E145fs	NM_025124	NP_079400	Q9H6X4	TM134_HUMAN			5	502	-			145			Extracellular (Potential).		Q08AK4|Q6PJN3	Frame_Shift_Del	DEL	ENST00000308022.2	37	c.434delA	CCDS8167.1																																																																																				0.731	TMEM134-020	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398994.1	NM_025124		2	4	NA	NA	NA	NA	2	4	---	---	---	---
ZNF821	55565	broad.mit.edu	37	16	71894083	71894088	+	In_Frame_Del	DEL	CATTTT	CATTTT	-	rs199779560		TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr16:71894083_71894088delCATTTT	ENST00000565601.1	-	7	1479_1484	c.1072_1077delAAAATG	c.(1072-1077)aaaatgdel	p.KM358del	ATXN1L_ENST00000569119.1_Intron|ZNF821_ENST00000313565.6_In_Frame_Del_p.KM316del|ZNF821_ENST00000446827.2_In_Frame_Del_p.KM316del|ZNF821_ENST00000425432.1_In_Frame_Del_p.KM358del|ZNF821_ENST00000564134.1_3'UTR	NM_001201553.1	NP_001188482.1	O75541	ZN821_HUMAN	zinc finger protein 821	358					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2)	13						ACATCATGTCCATTTTCTCCAGCCTC	0.587																																						uc010vmj.1		NA																	0				ovary(1)	1						c.(1072-1077)AAAATGdel		zinc finger protein 821																																				SO:0001651	inframe_deletion	55565				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:71894083_71894088delCATTTT	AF070588	CCDS32481.1, CCDS56006.1, CCDS73911.1	16q22.3	2008-05-02				ENSG00000102984		"""Zinc fingers, C2H2-type"""	28043	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_017530		Approved		uc021tlb.1	O75541		ENST00000565601.1:c.1072_1077delAAAATG	16.37:g.71894083_71894088delCATTTT	ENSP00000455648:p.Lys358_Met359del					ATXN1L_uc010vmi.1_Intron|ZNF821_uc002fbe.2_In_Frame_Del_p.KM208del|ZNF821_uc002fbf.2_In_Frame_Del_p.KM316del|ZNF821_uc002fbg.3_In_Frame_Del_p.KM208del|ZNF821_uc002fbh.3_In_Frame_Del_p.KM316del|ZNF821_uc002fbi.3_In_Frame_Del_p.KM155del	p.KM358del	NM_017530	NP_060000	O75541	ZN821_HUMAN			7	1448_1453	-			358_359			Potential.		A6NK48|B4DKK4|D3DWS3	In_Frame_Del	DEL	ENST00000565601.1	37	c.1072_1077delAAAATG	CCDS56006.1																																																																																				0.587	ZNF821-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434180.1	NM_017530		8	55	NA	NA	NA	NA	8	55	---	---	---	---
NFKBIB	4793	broad.mit.edu	37	19	39399378	39399380	+	In_Frame_Del	DEL	ACG	ACG	-	rs141886159		TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr19:39399378_39399380delACG	ENST00000313582.5	+	6	1011_1013	c.977_979delACG	c.(976-981)tacgac>tac	p.D328del	NFKBIB_ENST00000392079.3_3'UTR	NM_002503.4	NP_002494.2	Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta	328					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|signal transduction (GO:0007165)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CAGGATGAATACGACGACATTGT	0.596																																					Pancreas(165;1492 2005 6979 7739 34483)	uc002ojw.2		NA																	0				lung(1)|kidney(1)	2						c.(976-981)TACGAC>TAC		nuclear factor of kappa light polypeptide gene																																				SO:0001651	inframe_deletion	4793				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity	g.chr19:39399378_39399380delACG	L40407	CCDS12524.1, CCDS74362.1	19q13.1	2013-01-10				ENSG00000104825		"""Ankyrin repeat domain containing"""	7798	protein-coding gene	gene with protein product		604495				9763672	Standard	NM_002503		Approved	IKBB, TRIP9	uc002ojw.3	Q15653		ENST00000313582.5:c.977_979delACG	19.37:g.39399381_39399383delACG	ENSP00000312988:p.Asp328del					NFKBIB_uc002ojx.2_3'UTR|NFKBIB_uc002ojy.2_3'UTR	p.D328del	NM_002503	NP_002494	Q15653	IKBB_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		6	1035_1037	+	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		328					A8K3F4|Q96BJ7	In_Frame_Del	DEL	ENST00000313582.5	37	c.977_979delACG	CCDS12524.1																																																																																				0.596	NFKBIB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438155.1	NM_002503		19	65	NA	NA	NA	NA	19	65	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179459274	179459275	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr2:179459274_179459275insT	ENST00000591111.1	-	246	53247_53248	c.53023_53024insA	c.(53023-53025)attfs	p.I17675fs	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Ins_p.I10376fs|TTN_ENST00000460472.2_Frame_Shift_Ins_p.I10251fs|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Ins_p.I10443fs|TTN_ENST00000589042.1_Frame_Shift_Ins_p.I19316fs|TTN_ENST00000342992.6_Frame_Shift_Ins_p.I16748fs|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17675	Fibronectin type-III 28. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATAGTTAATAATTTCTGACCCA	0.391																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(50242-50244)ATTfs		titin isoform N2-A																																				SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179459274_179459275insT	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.53024dupA	2.37:g.179459277_179459277dupT	ENSP00000465570:p.Ile17675fs					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Frame_Shift_Ins_p.I10443fs|TTN_uc010zfi.1_Frame_Shift_Ins_p.I10376fs|TTN_uc010zfj.1_Frame_Shift_Ins_p.I10251fs	p.I16748fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		245	50466_50467	-			17675					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Ins	INS	ENST00000591111.1	37	c.50242_50243insA																																																																																					0.391	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		41	59	NA	NA	NA	NA	41	59	---	---	---	---
BCLAF1	9774	broad.mit.edu	37	6	136582553	136582553	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr6:136582553delA	ENST00000531224.1	-	12	2859	c.2607delT	c.(2605-2607)tttfs	p.F869fs	BCLAF1_ENST00000392348.2_Frame_Shift_Del_p.F818fs|BCLAF1_ENST00000031135.9_Frame_Shift_Del_p.F87fs|BCLAF1_ENST00000530767.1_Frame_Shift_Del_p.F696fs|BCLAF1_ENST00000353331.4_Frame_Shift_Del_p.F818fs|BCLAF1_ENST00000527759.1_Frame_Shift_Del_p.F867fs|BCLAF1_ENST00000527536.1_Frame_Shift_Del_p.F820fs|BCLAF1_ENST00000529917.1_5'UTR	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	869					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TGCCACGTTGAAAAGTACCAC	0.413																																					Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1		NA																	0				ovary(1)	1						c.(2605-2607)TTTfs		BCL2-associated transcription factor 1 isoform							217.0	217.0	217.0					6																	136582553		2203	4300	6503	SO:0001589	frameshift_variant	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136582553delA	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.2607delT	6.37:g.136582553delA	ENSP00000435210:p.Phe869fs					BCLAF1_uc011edb.1_Frame_Shift_Del_p.F148fs|BCLAF1_uc003qgw.1_Frame_Shift_Del_p.F696fs|BCLAF1_uc003qgy.1_Frame_Shift_Del_p.F818fs|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Frame_Shift_Del_p.F867fs	p.F869fs	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	12	2860	-	Colorectal(23;0.24)		869					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Frame_Shift_Del	DEL	ENST00000531224.1	37	c.2607delT	CCDS5177.1																																																																																				0.413	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		18	256	NA	NA	NA	NA	18	256	---	---	---	---
